Incidental Mutation 'R0193:Cic'
| ID |
23224 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cic
|
| Ensembl Gene |
ENSMUSG00000005442 |
| Gene Name |
capicua transcriptional repressor |
| Synonyms |
1200010B10Rik |
| MMRRC Submission |
038452-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.949)
|
| Stock # |
R0193 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
24967129-24993584 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 24986566 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Tyrosine
at position 1299
(S1299Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132351
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005578]
[ENSMUST00000163320]
[ENSMUST00000164820]
[ENSMUST00000165239]
[ENSMUST00000169266]
|
| AlphaFold |
Q924A2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000005578
AA Change: S392Y
PolyPhen 2
Score 0.140 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000005578
Gene: ENSMUSG00000005442
AA Change: S392Y
| 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 |
possibly damaging
Transcript: ENSMUST00000163320
AA Change: S392Y
PolyPhen 2
Score 0.543 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000126659
Gene: ENSMUSG00000005442
AA Change: S392Y
| 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 |
noncoding transcript
Transcript: ENSMUST00000163819
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000164440
|
| 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
AA Change: S392Y
PolyPhen 2
Score 0.199 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000128071
Gene: ENSMUSG00000005442
AA Change: S392Y
| 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 |
noncoding transcript
Transcript: ENSMUST00000165742
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000169266
AA Change: S1299Y
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000132351
Gene: ENSMUSG00000005442
AA Change: S1299Y
| 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: ENSMUST00000167379
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000167162
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000168956
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000170500
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000169743
|
| Meta Mutation Damage Score |
0.0659 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.0%
- 10x: 94.7%
- 20x: 85.3%
|
| Validation Efficiency |
95% (186/196) |
| 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: 90 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrb1 |
T |
C |
15: 74,444,005 (GRCm39) |
S96P |
probably damaging |
Het |
| Akr1c20 |
A |
G |
13: 4,561,292 (GRCm39) |
|
probably benign |
Het |
| Atp2a3 |
G |
T |
11: 72,863,046 (GRCm39) |
V99L |
possibly damaging |
Het |
| Atp6v0a1 |
T |
A |
11: 100,939,308 (GRCm39) |
I691N |
possibly damaging |
Het |
| Atp8b1 |
C |
T |
18: 64,694,707 (GRCm39) |
R525Q |
probably benign |
Het |
| Aurkb |
A |
G |
11: 68,939,370 (GRCm39) |
D151G |
probably damaging |
Het |
| Bank1 |
A |
T |
3: 135,772,279 (GRCm39) |
|
probably benign |
Het |
| Bcl9l |
T |
C |
9: 44,418,703 (GRCm39) |
L847P |
probably damaging |
Het |
| Bscl2 |
T |
A |
19: 8,824,793 (GRCm39) |
M292K |
probably benign |
Het |
| Cacna1c |
C |
T |
6: 118,579,363 (GRCm39) |
|
probably benign |
Het |
| Cadps2 |
T |
C |
6: 23,599,439 (GRCm39) |
K260R |
probably benign |
Het |
| Cc2d2a |
T |
C |
5: 43,893,460 (GRCm39) |
S1419P |
probably damaging |
Het |
| Ccdc180 |
G |
A |
4: 45,914,803 (GRCm39) |
E145K |
probably benign |
Het |
| Ccno |
C |
T |
13: 113,125,418 (GRCm39) |
|
probably benign |
Het |
| Cd300a |
A |
G |
11: 114,784,202 (GRCm39) |
D70G |
probably benign |
Het |
| Cenpc1 |
T |
C |
5: 86,180,262 (GRCm39) |
D670G |
probably benign |
Het |
| Cenpl |
A |
G |
1: 160,913,558 (GRCm39) |
I323V |
probably damaging |
Het |
| Cfap44 |
A |
G |
16: 44,269,573 (GRCm39) |
|
probably null |
Het |
| Cfap74 |
C |
T |
4: 155,510,572 (GRCm39) |
R386C |
probably benign |
Het |
| Clcnkb |
T |
C |
4: 141,139,627 (GRCm39) |
E125G |
possibly damaging |
Het |
| Clstn1 |
G |
A |
4: 149,719,253 (GRCm39) |
V361M |
probably damaging |
Het |
| Coro7 |
G |
A |
16: 4,445,368 (GRCm39) |
|
probably benign |
Het |
| Dchs1 |
C |
T |
7: 105,414,190 (GRCm39) |
R875H |
probably benign |
Het |
| Eif3j1 |
A |
C |
2: 121,882,508 (GRCm39) |
M239L |
probably benign |
Het |
| Eif4g3 |
G |
T |
4: 137,873,687 (GRCm39) |
|
probably benign |
Het |
| Elapor2 |
A |
T |
5: 9,472,359 (GRCm39) |
Q352L |
probably damaging |
Het |
| Erbb4 |
T |
C |
1: 68,083,119 (GRCm39) |
|
probably benign |
Het |
| Erlin2 |
T |
G |
8: 27,521,792 (GRCm39) |
V164G |
possibly damaging |
Het |
| Fbxo43 |
G |
T |
15: 36,162,029 (GRCm39) |
Q393K |
probably benign |
Het |
| Fcgr4 |
A |
T |
1: 170,853,329 (GRCm39) |
N178I |
possibly damaging |
Het |
| Grid2 |
A |
G |
6: 64,040,937 (GRCm39) |
N293S |
possibly damaging |
Het |
| H2-M1 |
C |
T |
17: 36,982,224 (GRCm39) |
V126I |
probably benign |
Het |
| Htr1f |
T |
A |
16: 64,747,112 (GRCm39) |
Y60F |
probably damaging |
Het |
| Ilf2 |
A |
G |
3: 90,388,646 (GRCm39) |
|
probably null |
Het |
| Impg2 |
A |
T |
16: 56,085,412 (GRCm39) |
K931* |
probably null |
Het |
| Ints1 |
T |
C |
5: 139,737,485 (GRCm39) |
E2176G |
probably damaging |
Het |
| Iqsec2 |
T |
C |
X: 151,006,399 (GRCm39) |
V1319A |
probably benign |
Het |
| Iqsec3 |
G |
T |
6: 121,387,683 (GRCm39) |
D685E |
probably damaging |
Het |
| Itgbl1 |
G |
A |
14: 124,083,958 (GRCm39) |
V279I |
probably benign |
Het |
| Kdm4b |
C |
T |
17: 56,700,952 (GRCm39) |
A541V |
probably benign |
Het |
| Kif14 |
A |
T |
1: 136,396,176 (GRCm39) |
T161S |
probably benign |
Het |
| Krt86 |
T |
C |
15: 101,377,244 (GRCm39) |
|
probably benign |
Het |
| Kyat1 |
C |
T |
2: 30,077,198 (GRCm39) |
|
probably null |
Het |
| Limch1 |
T |
C |
5: 67,184,882 (GRCm39) |
W791R |
probably damaging |
Het |
| Map3k11 |
T |
A |
19: 5,745,874 (GRCm39) |
M396K |
probably damaging |
Het |
| Mat2a |
A |
G |
6: 72,413,178 (GRCm39) |
|
probably null |
Het |
| Mbnl2 |
A |
G |
14: 120,616,649 (GRCm39) |
I88V |
possibly damaging |
Het |
| Mib2 |
T |
C |
4: 155,740,130 (GRCm39) |
T708A |
probably benign |
Het |
| Mix23 |
T |
C |
16: 35,903,184 (GRCm39) |
S59P |
probably damaging |
Het |
| Mkks |
T |
C |
2: 136,719,526 (GRCm39) |
|
probably null |
Het |
| Mtss1 |
T |
C |
15: 58,815,866 (GRCm39) |
M565V |
probably damaging |
Het |
| Myoc |
A |
G |
1: 162,476,604 (GRCm39) |
N436S |
probably damaging |
Het |
| Myod1 |
T |
A |
7: 46,026,536 (GRCm39) |
V147E |
probably damaging |
Het |
| Ngef |
A |
G |
1: 87,437,056 (GRCm39) |
L144P |
probably benign |
Het |
| Ngrn |
C |
T |
7: 79,911,678 (GRCm39) |
R92W |
probably damaging |
Het |
| Nup153 |
G |
A |
13: 46,863,130 (GRCm39) |
T349I |
probably benign |
Het |
| Or4c15 |
T |
A |
2: 88,760,627 (GRCm39) |
I11L |
probably benign |
Het |
| Or52ad1 |
G |
T |
7: 102,995,411 (GRCm39) |
S241R |
possibly damaging |
Het |
| Pigl |
A |
G |
11: 62,394,574 (GRCm39) |
I135M |
probably damaging |
Het |
| Pitpnm3 |
A |
G |
11: 71,961,318 (GRCm39) |
|
probably benign |
Het |
| Pkhd1 |
A |
T |
1: 20,429,141 (GRCm39) |
F2420I |
probably damaging |
Het |
| Polr2b |
C |
T |
5: 77,467,923 (GRCm39) |
T119M |
probably damaging |
Het |
| Prr29 |
A |
G |
11: 106,267,722 (GRCm39) |
Y130C |
probably damaging |
Het |
| Rab11fip3 |
T |
C |
17: 26,209,973 (GRCm39) |
I1048V |
probably damaging |
Het |
| Rab12 |
G |
A |
17: 66,807,357 (GRCm39) |
T124I |
probably damaging |
Het |
| Rab44 |
A |
G |
17: 29,359,281 (GRCm39) |
S490G |
probably benign |
Het |
| Rasa3 |
A |
G |
8: 13,620,233 (GRCm39) |
|
probably null |
Het |
| Rhbdl3 |
C |
T |
11: 80,244,400 (GRCm39) |
S369L |
possibly damaging |
Het |
| Rimbp2 |
A |
T |
5: 128,865,420 (GRCm39) |
S643T |
probably benign |
Het |
| Rin1 |
T |
G |
19: 5,102,680 (GRCm39) |
S396R |
probably damaging |
Het |
| Rpusd3 |
C |
T |
6: 113,396,198 (GRCm39) |
G28S |
probably damaging |
Het |
| Rtl9 |
T |
A |
X: 141,883,274 (GRCm39) |
S229T |
probably damaging |
Het |
| Rufy1 |
G |
T |
11: 50,280,679 (GRCm39) |
T701N |
probably benign |
Het |
| Scn4a |
A |
T |
11: 106,211,364 (GRCm39) |
L1551* |
probably null |
Het |
| Sec24b |
T |
C |
3: 129,782,633 (GRCm39) |
N1119S |
probably null |
Het |
| Serbp1 |
T |
A |
6: 67,249,868 (GRCm39) |
*75R |
probably null |
Het |
| Setx |
C |
T |
2: 29,069,685 (GRCm39) |
P2497S |
probably benign |
Het |
| Slc26a11 |
A |
T |
11: 119,250,140 (GRCm39) |
I132F |
probably damaging |
Het |
| Slc4a1 |
A |
G |
11: 102,243,510 (GRCm39) |
V707A |
possibly damaging |
Het |
| Slfn1 |
A |
G |
11: 83,012,669 (GRCm39) |
I262V |
probably damaging |
Het |
| Tmem168 |
T |
A |
6: 13,583,312 (GRCm39) |
D523V |
possibly damaging |
Het |
| Traf7 |
G |
T |
17: 24,729,525 (GRCm39) |
Q469K |
probably benign |
Het |
| Trdmt1 |
C |
A |
2: 13,549,428 (GRCm39) |
V6F |
probably damaging |
Het |
| Tsacc |
A |
T |
3: 88,194,395 (GRCm39) |
|
probably benign |
Het |
| Vmn2r5 |
A |
G |
3: 64,398,951 (GRCm39) |
I589T |
possibly damaging |
Het |
| Vmn2r7 |
T |
C |
3: 64,598,460 (GRCm39) |
D699G |
probably damaging |
Het |
| Vmn2r82 |
T |
C |
10: 79,217,129 (GRCm39) |
V487A |
probably damaging |
Het |
| Zbtb47 |
T |
C |
9: 121,596,732 (GRCm39) |
V696A |
probably damaging |
Het |
| Zfp287 |
A |
T |
11: 62,605,855 (GRCm39) |
S351T |
probably benign |
Het |
| Zfp654 |
T |
C |
16: 64,606,051 (GRCm39) |
H176R |
possibly damaging |
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 |
24,986,565 (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 |
24,986,566 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0462:Cic
|
UTSW |
7 |
24,986,565 (GRCm39) |
missense |
probably damaging |
0.98 |
|
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 |
|
|
R4688:Cic
|
UTSW |
7 |
24,991,095 (GRCm39) |
frame shift |
probably null |
|
|
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'- TCTTGATGGTGGGGAAGTAGACAGC -3'
(R):5'- ACCTGAAGCCGTACACTAGGAAGAG -3'
Sequencing Primer
(F):5'- GTAGACAGCCAAGCACTTCAAG -3'
(R):5'- TCCGTGGCTGAAGTATATCCAAC -3'
|
| Posted On |
2013-04-16 |
Incidental Mutation