Incidental Mutation 'R4688:Cic'
| ID |
353857 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cic
|
| Ensembl Gene |
ENSMUSG00000005442 |
| Gene Name |
capicua transcriptional repressor |
| Synonyms |
1200010B10Rik |
| MMRRC Submission |
041939-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.943)
|
| Stock # |
R4688 (G1)
|
| Quality Score |
132 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
24967129-24993584 bp(+) (GRCm39) |
| Type of Mutation |
frame shift |
| DNA Base Change (assembly) |
TCCCCC to TCCCCCCC
at 24991095 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132351
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005578]
[ENSMUST00000005583]
[ENSMUST00000108410]
[ENSMUST00000148150]
[ENSMUST00000155118]
[ENSMUST00000163320]
[ENSMUST00000169266]
[ENSMUST00000164820]
[ENSMUST00000165239]
|
| AlphaFold |
Q924A2 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000005578
|
| SMART Domains |
Protein: ENSMUSP00000005578
Gene: ENSMUSG00000005442
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:4J2L|D
|
21 |
48 |
6e-12 |
PDB |
|
low complexity region
|
106 |
120 |
N/A |
INTRINSIC |
|
low complexity region
|
124 |
138 |
N/A |
INTRINSIC |
|
HMG
|
199 |
269 |
1.24e-17 |
SMART |
|
low complexity region
|
415 |
431 |
N/A |
INTRINSIC |
|
low complexity region
|
473 |
486 |
N/A |
INTRINSIC |
|
low complexity region
|
508 |
521 |
N/A |
INTRINSIC |
|
low complexity region
|
525 |
555 |
N/A |
INTRINSIC |
|
low complexity region
|
567 |
583 |
N/A |
INTRINSIC |
|
low complexity region
|
645 |
660 |
N/A |
INTRINSIC |
|
low complexity region
|
729 |
740 |
N/A |
INTRINSIC |
|
low complexity region
|
782 |
803 |
N/A |
INTRINSIC |
|
low complexity region
|
837 |
859 |
N/A |
INTRINSIC |
|
low complexity region
|
939 |
951 |
N/A |
INTRINSIC |
|
low complexity region
|
1065 |
1080 |
N/A |
INTRINSIC |
|
low complexity region
|
1118 |
1132 |
N/A |
INTRINSIC |
|
low complexity region
|
1135 |
1155 |
N/A |
INTRINSIC |
|
low complexity region
|
1223 |
1253 |
N/A |
INTRINSIC |
|
low complexity region
|
1280 |
1313 |
N/A |
INTRINSIC |
|
low complexity region
|
1405 |
1418 |
N/A |
INTRINSIC |
|
low complexity region
|
1483 |
1494 |
N/A |
INTRINSIC |
|
low complexity region
|
1524 |
1547 |
N/A |
INTRINSIC |
|
low complexity region
|
1568 |
1603 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000005583
|
| SMART Domains |
Protein: ENSMUSP00000005583
Gene: ENSMUSG00000005447
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Lipase_GDSL_2
|
12 |
203 |
3.8e-13 |
PFAM |
|
Pfam:Lipase_GDSL
|
42 |
209 |
1.2e-8 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108410
|
| SMART Domains |
Protein: ENSMUSP00000104048
Gene: ENSMUSG00000005447
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Lipase_GDSL_2
|
4 |
151 |
1.2e-23 |
PFAM |
|
low complexity region
|
155 |
166 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140093
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148150
|
| SMART Domains |
Protein: ENSMUSP00000121250
Gene: ENSMUSG00000005447
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Lipase_GDSL_2
|
43 |
143 |
5.5e-14 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148828
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155118
|
| SMART Domains |
Protein: ENSMUSP00000120379
Gene: ENSMUSG00000005447
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Lipase_GDSL_2
|
43 |
149 |
2.2e-12 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000170500
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000163320
|
| SMART Domains |
Protein: ENSMUSP00000126659
Gene: ENSMUSG00000005442
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:4J2L|D
|
21 |
48 |
6e-12 |
PDB |
|
low complexity region
|
106 |
120 |
N/A |
INTRINSIC |
|
low complexity region
|
124 |
138 |
N/A |
INTRINSIC |
|
HMG
|
199 |
269 |
1.24e-17 |
SMART |
|
low complexity region
|
415 |
431 |
N/A |
INTRINSIC |
|
low complexity region
|
473 |
486 |
N/A |
INTRINSIC |
|
low complexity region
|
508 |
521 |
N/A |
INTRINSIC |
|
low complexity region
|
525 |
555 |
N/A |
INTRINSIC |
|
low complexity region
|
567 |
583 |
N/A |
INTRINSIC |
|
low complexity region
|
645 |
660 |
N/A |
INTRINSIC |
|
low complexity region
|
729 |
740 |
N/A |
INTRINSIC |
|
low complexity region
|
782 |
803 |
N/A |
INTRINSIC |
|
low complexity region
|
837 |
859 |
N/A |
INTRINSIC |
|
low complexity region
|
939 |
951 |
N/A |
INTRINSIC |
|
low complexity region
|
1064 |
1079 |
N/A |
INTRINSIC |
|
low complexity region
|
1117 |
1131 |
N/A |
INTRINSIC |
|
low complexity region
|
1134 |
1154 |
N/A |
INTRINSIC |
|
low complexity region
|
1222 |
1252 |
N/A |
INTRINSIC |
|
low complexity region
|
1279 |
1312 |
N/A |
INTRINSIC |
|
low complexity region
|
1405 |
1418 |
N/A |
INTRINSIC |
|
low complexity region
|
1483 |
1494 |
N/A |
INTRINSIC |
|
low complexity region
|
1524 |
1547 |
N/A |
INTRINSIC |
|
low complexity region
|
1568 |
1603 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000169266
|
| SMART Domains |
Protein: ENSMUSP00000132351
Gene: ENSMUSG00000005442
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
9 |
23 |
N/A |
INTRINSIC |
|
low complexity region
|
33 |
73 |
N/A |
INTRINSIC |
|
low complexity region
|
151 |
165 |
N/A |
INTRINSIC |
|
Pfam:DUF4819
|
249 |
346 |
1.8e-23 |
PFAM |
|
low complexity region
|
351 |
367 |
N/A |
INTRINSIC |
|
low complexity region
|
403 |
427 |
N/A |
INTRINSIC |
|
low complexity region
|
445 |
457 |
N/A |
INTRINSIC |
|
low complexity region
|
462 |
475 |
N/A |
INTRINSIC |
|
low complexity region
|
618 |
633 |
N/A |
INTRINSIC |
|
low complexity region
|
673 |
685 |
N/A |
INTRINSIC |
|
low complexity region
|
724 |
734 |
N/A |
INTRINSIC |
|
low complexity region
|
740 |
751 |
N/A |
INTRINSIC |
|
low complexity region
|
779 |
786 |
N/A |
INTRINSIC |
|
low complexity region
|
858 |
883 |
N/A |
INTRINSIC |
|
low complexity region
|
898 |
911 |
N/A |
INTRINSIC |
|
PDB:4J2L|D
|
930 |
955 |
5e-10 |
PDB |
|
low complexity region
|
1013 |
1027 |
N/A |
INTRINSIC |
|
low complexity region
|
1031 |
1045 |
N/A |
INTRINSIC |
|
HMG
|
1106 |
1176 |
1.24e-17 |
SMART |
|
low complexity region
|
1322 |
1338 |
N/A |
INTRINSIC |
|
low complexity region
|
1380 |
1393 |
N/A |
INTRINSIC |
|
low complexity region
|
1415 |
1428 |
N/A |
INTRINSIC |
|
low complexity region
|
1432 |
1462 |
N/A |
INTRINSIC |
|
low complexity region
|
1474 |
1490 |
N/A |
INTRINSIC |
|
low complexity region
|
1552 |
1567 |
N/A |
INTRINSIC |
|
low complexity region
|
1636 |
1647 |
N/A |
INTRINSIC |
|
low complexity region
|
1689 |
1710 |
N/A |
INTRINSIC |
|
low complexity region
|
1744 |
1766 |
N/A |
INTRINSIC |
|
low complexity region
|
1846 |
1858 |
N/A |
INTRINSIC |
|
low complexity region
|
1971 |
1986 |
N/A |
INTRINSIC |
|
low complexity region
|
2024 |
2038 |
N/A |
INTRINSIC |
|
low complexity region
|
2041 |
2061 |
N/A |
INTRINSIC |
|
low complexity region
|
2129 |
2159 |
N/A |
INTRINSIC |
|
low complexity region
|
2186 |
2219 |
N/A |
INTRINSIC |
|
low complexity region
|
2311 |
2324 |
N/A |
INTRINSIC |
|
low complexity region
|
2389 |
2400 |
N/A |
INTRINSIC |
|
low complexity region
|
2430 |
2453 |
N/A |
INTRINSIC |
|
low complexity region
|
2474 |
2509 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000167162
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000165742
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000167379
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164820
|
| SMART Domains |
Protein: ENSMUSP00000130146
Gene: ENSMUSG00000005442
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
22 |
36 |
N/A |
INTRINSIC |
|
low complexity region
|
39 |
57 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165239
|
| SMART Domains |
Protein: ENSMUSP00000128071
Gene: ENSMUSG00000005442
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:4J2L|D
|
21 |
48 |
5e-12 |
PDB |
|
low complexity region
|
106 |
120 |
N/A |
INTRINSIC |
|
low complexity region
|
124 |
138 |
N/A |
INTRINSIC |
|
HMG
|
199 |
269 |
1.24e-17 |
SMART |
|
low complexity region
|
415 |
431 |
N/A |
INTRINSIC |
|
low complexity region
|
473 |
486 |
N/A |
INTRINSIC |
|
low complexity region
|
508 |
521 |
N/A |
INTRINSIC |
|
low complexity region
|
525 |
555 |
N/A |
INTRINSIC |
|
low complexity region
|
567 |
583 |
N/A |
INTRINSIC |
|
low complexity region
|
645 |
660 |
N/A |
INTRINSIC |
|
low complexity region
|
729 |
740 |
N/A |
INTRINSIC |
|
low complexity region
|
782 |
803 |
N/A |
INTRINSIC |
|
low complexity region
|
837 |
859 |
N/A |
INTRINSIC |
|
low complexity region
|
939 |
951 |
N/A |
INTRINSIC |
|
low complexity region
|
1065 |
1080 |
N/A |
INTRINSIC |
|
low complexity region
|
1118 |
1132 |
N/A |
INTRINSIC |
|
low complexity region
|
1135 |
1153 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163901
|
| SMART Domains |
Protein: ENSMUSP00000127858
Gene: ENSMUSG00000005442
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
24 |
35 |
N/A |
INTRINSIC |
|
low complexity region
|
114 |
128 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an ortholog of the Drosophila melanogaster capicua gene, and is a member of the high mobility group (HMG)-box superfamily of transcriptional repressors. This protein contains a conserved HMG domain that is involved in DNA binding and nuclear localization, and a conserved C-terminus. Studies suggest that the N-terminal region of this protein interacts with Atxn1 (GeneID:6310), to form a transcription repressor complex, and in vitro studies suggest that polyglutamine-expansion of ATXN1 may alter the repressor activity of this complex. Mutations in this gene have been associated with olidogdendrogliomas (PMID:21817013). In addition, translocation events resulting in gene fusions of this gene with both DUX4 (GeneID:100288687) and FOXO4 (GeneID:4303) have been associated with round cell sarcomas. There are multiple pseudogenes of this gene found on chromosomes 1, 4, 6, 7, 16, 20, and the Y chromosome. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Feb 2015]
PHENOTYPE: Mice homozygous for a gene trapped allele exhibit partial postnatal lethality, decreased body size, and severe lung alveolarization defects. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(61) : Targeted, other(4) Gene trapped(57)
|
| Other mutations in this stock |
Total: 96 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700003E16Rik |
A |
G |
6: 83,139,680 (GRCm39) |
N535S |
probably damaging |
Het |
| Abcc12 |
T |
C |
8: 87,275,323 (GRCm39) |
S452G |
possibly damaging |
Het |
| Acacb |
C |
A |
5: 114,342,824 (GRCm39) |
Q897K |
probably benign |
Het |
| Acot3 |
C |
A |
12: 84,100,691 (GRCm39) |
R145S |
probably damaging |
Het |
| Ankrd54 |
A |
T |
15: 78,938,782 (GRCm39) |
Y247N |
probably damaging |
Het |
| Arl11 |
G |
A |
14: 61,548,546 (GRCm39) |
V119I |
probably benign |
Het |
| Atosb |
A |
G |
4: 43,034,663 (GRCm39) |
F352S |
probably damaging |
Het |
| Atxn7 |
T |
A |
14: 14,089,288 (GRCm38) |
M268K |
probably benign |
Het |
| Bms1 |
G |
A |
6: 118,369,667 (GRCm39) |
R934C |
probably damaging |
Het |
| Brd10 |
A |
G |
19: 29,694,501 (GRCm39) |
I1664T |
probably benign |
Het |
| Chrnb3 |
T |
C |
8: 27,884,147 (GRCm39) |
S295P |
probably damaging |
Het |
| Cnr1 |
A |
T |
4: 33,944,571 (GRCm39) |
I320F |
probably benign |
Het |
| Cntn4 |
C |
T |
6: 106,414,910 (GRCm39) |
P147L |
probably damaging |
Het |
| Col24a1 |
G |
A |
3: 145,020,144 (GRCm39) |
V172I |
probably benign |
Het |
| Col9a3 |
A |
G |
2: 180,249,424 (GRCm39) |
D262G |
probably damaging |
Het |
| Csrnp2 |
A |
G |
15: 100,380,241 (GRCm39) |
V350A |
probably damaging |
Het |
| D630045J12Rik |
A |
G |
6: 38,173,592 (GRCm39) |
V192A |
possibly damaging |
Het |
| Deptor |
A |
G |
15: 55,072,177 (GRCm39) |
M219V |
probably benign |
Het |
| Dmrtb1 |
A |
T |
4: 107,541,247 (GRCm39) |
L38Q |
probably damaging |
Het |
| Dvl2 |
G |
A |
11: 69,898,344 (GRCm39) |
R367Q |
possibly damaging |
Het |
| Dync1h1 |
T |
G |
12: 110,621,962 (GRCm39) |
I3435S |
probably damaging |
Het |
| Ecpas |
A |
G |
4: 58,840,757 (GRCm39) |
V667A |
probably damaging |
Het |
| Eif2b3 |
A |
G |
4: 116,916,046 (GRCm39) |
N218D |
probably benign |
Het |
| Epha2 |
A |
G |
4: 141,046,292 (GRCm39) |
D497G |
probably benign |
Het |
| Epha7 |
G |
T |
4: 28,821,367 (GRCm39) |
L177F |
probably damaging |
Het |
| Fam98c |
C |
T |
7: 28,854,666 (GRCm39) |
E147K |
probably damaging |
Het |
| Fbxo17 |
A |
G |
7: 28,431,979 (GRCm39) |
T19A |
probably benign |
Het |
| Fbxo47 |
A |
G |
11: 97,747,049 (GRCm39) |
F339S |
probably damaging |
Het |
| Frmd4a |
G |
T |
2: 4,542,122 (GRCm39) |
V234L |
possibly damaging |
Het |
| Gal3st2 |
A |
G |
1: 93,800,245 (GRCm39) |
D32G |
probably damaging |
Het |
| Gpr135 |
T |
C |
12: 72,117,720 (GRCm39) |
T16A |
probably benign |
Het |
| Gpr160 |
A |
T |
3: 30,950,835 (GRCm39) |
R302S |
probably benign |
Het |
| Hrh2 |
C |
A |
13: 54,368,820 (GRCm39) |
N265K |
probably benign |
Het |
| Htatip2 |
C |
A |
7: 49,423,171 (GRCm39) |
A242E |
probably damaging |
Het |
| Igfbp7 |
T |
C |
5: 77,555,482 (GRCm39) |
Y127C |
probably damaging |
Het |
| Igkv16-104 |
A |
G |
6: 68,402,878 (GRCm39) |
Q57R |
possibly damaging |
Het |
| Ino80c |
A |
G |
18: 24,241,903 (GRCm39) |
S161P |
probably damaging |
Het |
| Itprid1 |
G |
A |
6: 55,944,132 (GRCm39) |
|
probably null |
Het |
| Kcnc1 |
A |
G |
7: 46,047,259 (GRCm39) |
D53G |
probably benign |
Het |
| Khdc4 |
T |
A |
3: 88,593,824 (GRCm39) |
M71K |
probably damaging |
Het |
| Lce1h |
G |
T |
3: 92,670,874 (GRCm39) |
R93S |
unknown |
Het |
| Lce1k |
T |
C |
3: 92,713,951 (GRCm39) |
S78G |
unknown |
Het |
| Lhcgr |
T |
A |
17: 89,072,580 (GRCm39) |
I156F |
probably damaging |
Het |
| Lpl |
T |
C |
8: 69,352,077 (GRCm39) |
Y343H |
probably damaging |
Het |
| Lrp6 |
G |
T |
6: 134,456,706 (GRCm39) |
R853S |
probably damaging |
Het |
| Lrrc7 |
A |
G |
3: 157,854,242 (GRCm39) |
V1322A |
probably damaging |
Het |
| Lrrc74a |
C |
T |
12: 86,784,472 (GRCm39) |
Q67* |
probably null |
Het |
| Megf6 |
A |
T |
4: 154,338,271 (GRCm39) |
D447V |
probably damaging |
Het |
| Mep1a |
T |
C |
17: 43,793,139 (GRCm39) |
D355G |
possibly damaging |
Het |
| Ncoa1 |
T |
C |
12: 4,365,781 (GRCm39) |
D95G |
probably benign |
Het |
| Npepl1 |
A |
T |
2: 173,956,235 (GRCm39) |
I139F |
possibly damaging |
Het |
| Nrcam |
T |
C |
12: 44,594,020 (GRCm39) |
S262P |
probably benign |
Het |
| Nrp1 |
A |
G |
8: 129,229,047 (GRCm39) |
N842D |
probably benign |
Het |
| Olfml3 |
A |
G |
3: 103,639,497 (GRCm39) |
|
probably benign |
Het |
| Or1x6 |
A |
G |
11: 50,939,815 (GRCm39) |
R294G |
probably damaging |
Het |
| Or4b1d |
T |
A |
2: 89,969,343 (GRCm39) |
N47Y |
possibly damaging |
Het |
| Or6b6 |
T |
A |
7: 106,571,068 (GRCm39) |
Y161F |
probably benign |
Het |
| Or6c204 |
G |
A |
10: 129,022,514 (GRCm39) |
P259S |
probably damaging |
Het |
| Or6k8-ps1 |
T |
C |
1: 173,979,162 (GRCm39) |
Y27H |
possibly damaging |
Het |
| Or8b3b |
A |
G |
9: 38,584,659 (GRCm39) |
L27P |
probably damaging |
Het |
| Or9i1b |
A |
T |
19: 13,896,605 (GRCm39) |
T74S |
probably benign |
Het |
| Pde2a |
A |
G |
7: 101,152,041 (GRCm39) |
N316S |
probably benign |
Het |
| Pde4dip |
T |
A |
3: 97,750,993 (GRCm39) |
R74* |
probably null |
Het |
| Pex13 |
A |
T |
11: 23,605,472 (GRCm39) |
W253R |
possibly damaging |
Het |
| Piezo1 |
A |
T |
8: 123,215,278 (GRCm39) |
W1444R |
probably damaging |
Het |
| Pla2g4e |
T |
C |
2: 119,998,414 (GRCm39) |
K843R |
possibly damaging |
Het |
| Plxna2 |
C |
T |
1: 194,326,753 (GRCm39) |
P229L |
probably damaging |
Het |
| Prelid3b |
G |
T |
2: 174,308,592 (GRCm39) |
T131K |
probably benign |
Het |
| Pros1 |
T |
C |
16: 62,709,370 (GRCm39) |
|
probably null |
Het |
| Prrc2c |
G |
T |
1: 162,525,256 (GRCm39) |
P450Q |
unknown |
Het |
| Ptbp1 |
G |
T |
10: 79,692,342 (GRCm39) |
V5F |
possibly damaging |
Het |
| Ptk2 |
T |
A |
15: 73,078,074 (GRCm39) |
L997F |
probably damaging |
Het |
| Rims1 |
G |
T |
1: 22,518,528 (GRCm39) |
S525* |
probably null |
Het |
| Sanbr |
A |
G |
11: 23,543,449 (GRCm39) |
S530P |
probably benign |
Het |
| Sh2b3 |
T |
A |
5: 121,956,697 (GRCm39) |
D318V |
probably benign |
Het |
| Slc16a13 |
A |
T |
11: 70,111,101 (GRCm39) |
I88N |
probably damaging |
Het |
| Slit2 |
T |
A |
5: 48,414,345 (GRCm39) |
|
probably null |
Het |
| Snx10 |
A |
G |
6: 51,556,918 (GRCm39) |
N67S |
probably damaging |
Het |
| Stil |
A |
G |
4: 114,898,505 (GRCm39) |
Y1045C |
probably damaging |
Het |
| Stra6 |
A |
G |
9: 58,042,359 (GRCm39) |
|
probably null |
Het |
| Sympk |
A |
G |
7: 18,788,335 (GRCm39) |
S1254G |
probably benign |
Het |
| Syt15 |
G |
T |
14: 33,950,011 (GRCm39) |
G377V |
probably damaging |
Het |
| Taar4 |
A |
T |
10: 23,836,731 (GRCm39) |
I114F |
probably damaging |
Het |
| Tcaf3 |
G |
A |
6: 42,570,300 (GRCm39) |
|
probably null |
Het |
| Tgm7 |
A |
T |
2: 120,924,502 (GRCm39) |
N558K |
probably benign |
Het |
| Tln2 |
T |
G |
9: 67,304,935 (GRCm39) |
M1L |
probably benign |
Het |
| Trim50 |
C |
T |
5: 135,395,994 (GRCm39) |
T314I |
probably damaging |
Het |
| Trp53rka |
A |
T |
2: 165,333,312 (GRCm39) |
Y192* |
probably null |
Het |
| Ube3b |
T |
C |
5: 114,531,139 (GRCm39) |
V211A |
probably benign |
Het |
| Ush2a |
A |
G |
1: 188,132,138 (GRCm39) |
S787G |
probably benign |
Het |
| Vmn1r189 |
T |
C |
13: 22,286,289 (GRCm39) |
M183V |
probably damaging |
Het |
| Vps13d |
G |
T |
4: 144,904,782 (GRCm39) |
Q115K |
probably benign |
Het |
| Zfp358 |
A |
G |
8: 3,545,493 (GRCm39) |
D25G |
probably damaging |
Het |
| Zfp521 |
T |
G |
18: 13,977,647 (GRCm39) |
K922T |
probably damaging |
Het |
| Zfp521 |
T |
A |
18: 13,977,648 (GRCm39) |
K922* |
probably null |
Het |
| Zfp68 |
T |
A |
5: 138,614,743 (GRCm39) |
K4* |
probably null |
Het |
|
| Other mutations in Cic |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00092:Cic
|
APN |
7 |
24,991,549 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01668:Cic
|
APN |
7 |
24,990,629 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
IGL02229:Cic
|
APN |
7 |
24,990,375 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02506:Cic
|
APN |
7 |
24,990,282 (GRCm39) |
missense |
probably benign |
|
|
IGL02794:Cic
|
APN |
7 |
24,985,069 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03065:Cic
|
APN |
7 |
24,985,246 (GRCm39) |
splice site |
probably benign |
|
|
IGL03304:Cic
|
APN |
7 |
24,984,274 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Capuccino
|
UTSW |
7 |
24,986,565 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Cassock
|
UTSW |
7 |
24,988,338 (GRCm39) |
nonsense |
probably null |
|
|
Monkey
|
UTSW |
7 |
24,986,566 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4850_Cic_466
|
UTSW |
7 |
24,972,327 (GRCm39) |
missense |
probably damaging |
0.98 |
|
1mM(1):Cic
|
UTSW |
7 |
24,990,214 (GRCm39) |
splice site |
probably benign |
|
|
IGL03046:Cic
|
UTSW |
7 |
24,990,500 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0012:Cic
|
UTSW |
7 |
24,986,566 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0012:Cic
|
UTSW |
7 |
24,986,565 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0027:Cic
|
UTSW |
7 |
24,986,566 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0027:Cic
|
UTSW |
7 |
24,986,565 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0038:Cic
|
UTSW |
7 |
24,986,566 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0038:Cic
|
UTSW |
7 |
24,986,565 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0063:Cic
|
UTSW |
7 |
24,986,566 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0063:Cic
|
UTSW |
7 |
24,986,565 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0064:Cic
|
UTSW |
7 |
24,986,566 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0064:Cic
|
UTSW |
7 |
24,986,565 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0118:Cic
|
UTSW |
7 |
24,985,459 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0193:Cic
|
UTSW |
7 |
24,986,566 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0193:Cic
|
UTSW |
7 |
24,986,565 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0241:Cic
|
UTSW |
7 |
24,986,566 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0241:Cic
|
UTSW |
7 |
24,986,565 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0377:Cic
|
UTSW |
7 |
24,985,224 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0462:Cic
|
UTSW |
7 |
24,986,565 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0462:Cic
|
UTSW |
7 |
24,986,566 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0800:Cic
|
UTSW |
7 |
24,984,662 (GRCm39) |
missense |
probably benign |
|
|
R1253:Cic
|
UTSW |
7 |
24,990,373 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1458:Cic
|
UTSW |
7 |
24,979,162 (GRCm39) |
intron |
probably benign |
|
|
R1462:Cic
|
UTSW |
7 |
24,971,032 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1462:Cic
|
UTSW |
7 |
24,971,032 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1519:Cic
|
UTSW |
7 |
24,993,235 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1586:Cic
|
UTSW |
7 |
24,985,386 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1824:Cic
|
UTSW |
7 |
24,987,691 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1908:Cic
|
UTSW |
7 |
24,986,265 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2045:Cic
|
UTSW |
7 |
24,970,961 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R2063:Cic
|
UTSW |
7 |
24,972,876 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2161:Cic
|
UTSW |
7 |
24,987,559 (GRCm39) |
splice site |
probably null |
|
|
R2495:Cic
|
UTSW |
7 |
24,991,201 (GRCm39) |
splice site |
probably benign |
|
|
R2865:Cic
|
UTSW |
7 |
24,972,646 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R3692:Cic
|
UTSW |
7 |
24,988,338 (GRCm39) |
nonsense |
probably null |
|
|
R3709:Cic
|
UTSW |
7 |
24,986,406 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3710:Cic
|
UTSW |
7 |
24,986,406 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3872:Cic
|
UTSW |
7 |
24,971,124 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R3946:Cic
|
UTSW |
7 |
24,971,771 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4199:Cic
|
UTSW |
7 |
24,991,095 (GRCm39) |
frame shift |
probably null |
|
|
R4426:Cic
|
UTSW |
7 |
24,993,433 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R4502:Cic
|
UTSW |
7 |
24,987,892 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4585:Cic
|
UTSW |
7 |
24,972,203 (GRCm39) |
missense |
probably benign |
0.33 |
|
R4586:Cic
|
UTSW |
7 |
24,972,203 (GRCm39) |
missense |
probably benign |
0.33 |
|
R4614:Cic
|
UTSW |
7 |
24,991,095 (GRCm39) |
frame shift |
probably null |
|
|
R4664:Cic
|
UTSW |
7 |
24,990,099 (GRCm39) |
small deletion |
probably benign |
|
|
R4695:Cic
|
UTSW |
7 |
24,973,013 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R4696:Cic
|
UTSW |
7 |
24,987,908 (GRCm39) |
missense |
probably benign |
|
|
R4746:Cic
|
UTSW |
7 |
24,987,905 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4758:Cic
|
UTSW |
7 |
24,991,636 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R4767:Cic
|
UTSW |
7 |
24,971,025 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4776:Cic
|
UTSW |
7 |
24,982,308 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4820:Cic
|
UTSW |
7 |
24,971,157 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4850:Cic
|
UTSW |
7 |
24,972,327 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4851:Cic
|
UTSW |
7 |
24,972,327 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4922:Cic
|
UTSW |
7 |
24,991,095 (GRCm39) |
small insertion |
probably benign |
|
|
R4989:Cic
|
UTSW |
7 |
24,986,535 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5131:Cic
|
UTSW |
7 |
24,991,095 (GRCm39) |
small insertion |
probably benign |
|
|
R5718:Cic
|
UTSW |
7 |
24,972,203 (GRCm39) |
missense |
probably benign |
0.33 |
|
R5801:Cic
|
UTSW |
7 |
24,970,863 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5949:Cic
|
UTSW |
7 |
24,971,730 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6000:Cic
|
UTSW |
7 |
24,971,423 (GRCm39) |
missense |
probably benign |
0.33 |
|
R6246:Cic
|
UTSW |
7 |
24,971,067 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6283:Cic
|
UTSW |
7 |
24,985,459 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6364:Cic
|
UTSW |
7 |
24,972,248 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R6481:Cic
|
UTSW |
7 |
24,987,706 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R6919:Cic
|
UTSW |
7 |
24,971,202 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6920:Cic
|
UTSW |
7 |
24,990,107 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6995:Cic
|
UTSW |
7 |
24,970,736 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R7002:Cic
|
UTSW |
7 |
24,971,621 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7113:Cic
|
UTSW |
7 |
24,972,869 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7560:Cic
|
UTSW |
7 |
24,972,278 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7680:Cic
|
UTSW |
7 |
24,991,856 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7698:Cic
|
UTSW |
7 |
24,972,597 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R7746:Cic
|
UTSW |
7 |
24,988,207 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7841:Cic
|
UTSW |
7 |
24,985,192 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7879:Cic
|
UTSW |
7 |
24,984,551 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7916:Cic
|
UTSW |
7 |
24,987,715 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7920:Cic
|
UTSW |
7 |
24,971,384 (GRCm39) |
missense |
probably benign |
|
|
R8056:Cic
|
UTSW |
7 |
24,990,366 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R8226:Cic
|
UTSW |
7 |
24,987,213 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8281:Cic
|
UTSW |
7 |
24,971,249 (GRCm39) |
missense |
probably benign |
|
|
R8847:Cic
|
UTSW |
7 |
24,970,631 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8991:Cic
|
UTSW |
7 |
24,988,885 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9083:Cic
|
UTSW |
7 |
24,985,470 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9140:Cic
|
UTSW |
7 |
24,985,165 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9200:Cic
|
UTSW |
7 |
24,971,940 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9208:Cic
|
UTSW |
7 |
24,987,502 (GRCm39) |
missense |
probably benign |
0.07 |
|
R9301:Cic
|
UTSW |
7 |
24,991,117 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9408:Cic
|
UTSW |
7 |
24,971,414 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R9569:Cic
|
UTSW |
7 |
24,972,120 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R9752:Cic
|
UTSW |
7 |
24,971,403 (GRCm39) |
missense |
probably damaging |
0.96 |
|
V7732:Cic
|
UTSW |
7 |
24,991,670 (GRCm39) |
missense |
probably benign |
|
|
Z1176:Cic
|
UTSW |
7 |
24,970,444 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGCTTAGTGGCTCCCAAAG -3'
(R):5'- AAAACCCTTGGCCCCTGAAG -3'
Sequencing Primer
(F):5'- AAGCTCAGCGACCCAGC -3'
(R):5'- CTGAAGGCCAGGATACCCAG -3'
|
| Posted On |
2015-10-21 |
Incidental Mutation