Incidental Mutation 'R8556:Cdan1'
| ID |
660088 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cdan1
|
| Ensembl Gene |
ENSMUSG00000027284 |
| Gene Name |
codanin 1 |
| Synonyms |
1500015A01Rik, codanin-1, CDA1, CDA-I |
| MMRRC Submission |
068519-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8556 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
120546635-120561998 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 120553471 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 971
(V971M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106329
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000110700]
[ENSMUST00000110701]
[ENSMUST00000154193]
|
| AlphaFold |
Q8CC12 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000110700
AA Change: V971M
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000106328
Gene: ENSMUSG00000027284
AA Change: V971M
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
25 |
42 |
N/A |
INTRINSIC |
|
low complexity region
|
78 |
99 |
N/A |
INTRINSIC |
|
low complexity region
|
102 |
151 |
N/A |
INTRINSIC |
|
low complexity region
|
154 |
180 |
N/A |
INTRINSIC |
|
low complexity region
|
326 |
337 |
N/A |
INTRINSIC |
|
low complexity region
|
561 |
576 |
N/A |
INTRINSIC |
|
low complexity region
|
724 |
735 |
N/A |
INTRINSIC |
|
Pfam:Codanin-1_C
|
786 |
906 |
2.4e-48 |
PFAM |
|
low complexity region
|
1157 |
1171 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000110701
AA Change: V971M
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000106329
Gene: ENSMUSG00000027284
AA Change: V971M
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
77 |
98 |
N/A |
INTRINSIC |
|
low complexity region
|
101 |
150 |
N/A |
INTRINSIC |
|
low complexity region
|
153 |
179 |
N/A |
INTRINSIC |
|
low complexity region
|
326 |
337 |
N/A |
INTRINSIC |
|
low complexity region
|
561 |
576 |
N/A |
INTRINSIC |
|
low complexity region
|
724 |
735 |
N/A |
INTRINSIC |
|
Pfam:Codanin-1_C
|
789 |
904 |
2.4e-41 |
PFAM |
|
low complexity region
|
1164 |
1178 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000154193
|
| SMART Domains |
Protein: ENSMUSP00000116900
Gene: ENSMUSG00000033705
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
63 |
77 |
N/A |
INTRINSIC |
|
coiled coil region
|
409 |
450 |
N/A |
INTRINSIC |
|
low complexity region
|
454 |
463 |
N/A |
INTRINSIC |
|
low complexity region
|
469 |
486 |
N/A |
INTRINSIC |
|
low complexity region
|
546 |
567 |
N/A |
INTRINSIC |
|
SCOP:d1jssa_
|
588 |
784 |
4e-29 |
SMART |
|
Blast:START
|
589 |
785 |
6e-12 |
BLAST |
|
| Meta Mutation Damage Score |
0.2824 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
100% (51/51) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that appears to play a role in nuclear envelope integrity, possibly related to microtubule attachments. Mutations in this gene cause congenital dyserythropoietic anemia type I, a disease resulting in morphological and functional abnormalities of erythropoiesis. [provided by RefSeq, Jul 2009]
PHENOTYPE: Mice homozygous for a gene trapped allele exhibit complete embryonic lethality between implantation and somite formation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acadvl |
A |
T |
11: 69,904,376 (GRCm39) |
M148K |
probably benign |
Het |
| Adcy2 |
T |
C |
13: 68,779,094 (GRCm39) |
Y982C |
possibly damaging |
Het |
| Adgrl4 |
T |
C |
3: 151,216,302 (GRCm39) |
I495T |
probably damaging |
Het |
| Ankfn1 |
A |
T |
11: 89,332,268 (GRCm39) |
I426K |
possibly damaging |
Het |
| Birc6 |
T |
G |
17: 74,864,949 (GRCm39) |
S236R |
probably benign |
Het |
| Col6a4 |
A |
G |
9: 105,944,252 (GRCm39) |
F1074S |
probably damaging |
Het |
| Crk |
A |
G |
11: 75,583,347 (GRCm39) |
K189R |
probably benign |
Het |
| Dennd5b |
A |
G |
6: 148,895,268 (GRCm39) |
L1254P |
probably damaging |
Het |
| Dlec1 |
A |
G |
9: 118,955,289 (GRCm39) |
T658A |
probably benign |
Het |
| Dock2 |
T |
C |
11: 34,212,457 (GRCm39) |
D1228G |
possibly damaging |
Het |
| Dync2h1 |
T |
C |
9: 7,113,198 (GRCm39) |
Y209C |
probably benign |
Het |
| Edem3 |
G |
A |
1: 151,660,586 (GRCm39) |
V283I |
possibly damaging |
Het |
| Elavl1 |
A |
G |
8: 4,345,388 (GRCm39) |
S202P |
possibly damaging |
Het |
| Eprs1 |
G |
A |
1: 185,152,485 (GRCm39) |
|
probably null |
Het |
| Esp31 |
A |
T |
17: 38,951,942 (GRCm39) |
M1L |
probably benign |
Het |
| Eya4 |
G |
A |
10: 22,982,157 (GRCm39) |
H601Y |
probably damaging |
Het |
| Gm6370 |
T |
C |
5: 146,430,702 (GRCm39) |
S296P |
probably benign |
Het |
| Helz2 |
A |
G |
2: 180,871,350 (GRCm39) |
V2754A |
probably damaging |
Het |
| Hgsnat |
C |
T |
8: 26,443,308 (GRCm39) |
|
probably null |
Het |
| Hoxb6 |
G |
T |
11: 96,191,543 (GRCm39) |
R155L |
probably damaging |
Het |
| Igkv6-17 |
T |
C |
6: 70,348,746 (GRCm39) |
V39A |
probably damaging |
Het |
| Iqgap1 |
G |
A |
7: 80,375,787 (GRCm39) |
L1363F |
probably damaging |
Het |
| Lcor |
TCA |
T |
19: 41,546,863 (GRCm39) |
|
probably null |
Het |
| Macf1 |
A |
G |
4: 123,382,136 (GRCm39) |
S476P |
probably damaging |
Het |
| Mdh1b |
A |
C |
1: 63,750,141 (GRCm39) |
|
probably null |
Het |
| Muc16 |
T |
A |
9: 18,552,233 (GRCm39) |
I4687L |
probably benign |
Het |
| Mylk3 |
T |
C |
8: 86,053,902 (GRCm39) |
M672V |
possibly damaging |
Het |
| Nbea |
A |
G |
3: 55,554,807 (GRCm39) |
F2614L |
probably benign |
Het |
| Or4p8 |
A |
T |
2: 88,727,382 (GRCm39) |
C186* |
probably null |
Het |
| Otop3 |
T |
A |
11: 115,235,782 (GRCm39) |
D471E |
probably benign |
Het |
| Pds5b |
G |
A |
5: 150,716,073 (GRCm39) |
M1077I |
probably benign |
Het |
| Plppr5 |
T |
A |
3: 117,465,679 (GRCm39) |
L310Q |
probably benign |
Het |
| Ptpn13 |
G |
A |
5: 103,707,038 (GRCm39) |
E1416K |
probably damaging |
Het |
| Ptprj |
A |
G |
2: 90,271,044 (GRCm39) |
L1228P |
probably damaging |
Het |
| Rbm12 |
T |
C |
2: 155,938,481 (GRCm39) |
D597G |
probably damaging |
Het |
| Ret |
A |
G |
6: 118,146,149 (GRCm39) |
F777L |
probably damaging |
Het |
| Rrbp1 |
A |
T |
2: 143,831,045 (GRCm39) |
V374D |
possibly damaging |
Het |
| Scin |
T |
C |
12: 40,127,593 (GRCm39) |
|
probably null |
Het |
| Serpina1a |
T |
A |
12: 103,822,229 (GRCm39) |
K234N |
probably damaging |
Het |
| Snx20 |
T |
A |
8: 89,356,661 (GRCm39) |
M52L |
probably benign |
Het |
| Svs6 |
T |
C |
2: 164,159,485 (GRCm39) |
S83P |
possibly damaging |
Het |
| Tdp1 |
T |
C |
12: 99,857,527 (GRCm39) |
S29P |
probably benign |
Het |
| Tet1 |
T |
C |
10: 62,675,985 (GRCm39) |
N697S |
probably benign |
Het |
| Trgc4 |
A |
G |
13: 19,528,952 (GRCm39) |
|
probably benign |
Het |
| Trpv3 |
A |
G |
11: 73,178,291 (GRCm39) |
I453V |
probably benign |
Het |
| Trrap |
T |
C |
5: 144,762,747 (GRCm39) |
F2407L |
probably benign |
Het |
| Tsc22d4 |
T |
C |
5: 137,745,849 (GRCm39) |
S158P |
probably damaging |
Het |
| Uaca |
A |
T |
9: 60,777,923 (GRCm39) |
K768M |
probably damaging |
Het |
| Wdr20rt |
G |
A |
12: 65,273,739 (GRCm39) |
V228I |
probably benign |
Het |
| Zbtb7b |
T |
C |
3: 89,300,444 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Cdan1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01592:Cdan1
|
APN |
2 |
120,556,466 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01660:Cdan1
|
APN |
2 |
120,556,134 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
IGL01930:Cdan1
|
APN |
2 |
120,557,063 (GRCm39) |
intron |
probably benign |
|
|
IGL02597:Cdan1
|
APN |
2 |
120,555,720 (GRCm39) |
missense |
probably benign |
0.08 |
|
IGL03025:Cdan1
|
APN |
2 |
120,561,222 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03130:Cdan1
|
APN |
2 |
120,558,393 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL03388:Cdan1
|
APN |
2 |
120,560,992 (GRCm39) |
utr 3 prime |
probably benign |
|
|
FR4737:Cdan1
|
UTSW |
2 |
120,555,452 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0001:Cdan1
|
UTSW |
2 |
120,554,232 (GRCm39) |
missense |
probably benign |
0.41 |
|
R0650:Cdan1
|
UTSW |
2 |
120,556,526 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0781:Cdan1
|
UTSW |
2 |
120,551,083 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0881:Cdan1
|
UTSW |
2 |
120,551,466 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1110:Cdan1
|
UTSW |
2 |
120,551,083 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1345:Cdan1
|
UTSW |
2 |
120,549,620 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1370:Cdan1
|
UTSW |
2 |
120,549,620 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1503:Cdan1
|
UTSW |
2 |
120,560,056 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1579:Cdan1
|
UTSW |
2 |
120,561,220 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1664:Cdan1
|
UTSW |
2 |
120,550,987 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1749:Cdan1
|
UTSW |
2 |
120,560,280 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1765:Cdan1
|
UTSW |
2 |
120,551,230 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1806:Cdan1
|
UTSW |
2 |
120,561,907 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R1856:Cdan1
|
UTSW |
2 |
120,555,417 (GRCm39) |
missense |
probably benign |
|
|
R2202:Cdan1
|
UTSW |
2 |
120,551,241 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2203:Cdan1
|
UTSW |
2 |
120,551,241 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2204:Cdan1
|
UTSW |
2 |
120,551,241 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3957:Cdan1
|
UTSW |
2 |
120,561,501 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R3957:Cdan1
|
UTSW |
2 |
120,556,113 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4060:Cdan1
|
UTSW |
2 |
120,556,224 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4324:Cdan1
|
UTSW |
2 |
120,555,460 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4379:Cdan1
|
UTSW |
2 |
120,557,099 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4611:Cdan1
|
UTSW |
2 |
120,561,201 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4695:Cdan1
|
UTSW |
2 |
120,558,864 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4866:Cdan1
|
UTSW |
2 |
120,561,928 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R5183:Cdan1
|
UTSW |
2 |
120,560,061 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5347:Cdan1
|
UTSW |
2 |
120,560,546 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5789:Cdan1
|
UTSW |
2 |
120,560,016 (GRCm39) |
missense |
probably benign |
0.22 |
|
R5958:Cdan1
|
UTSW |
2 |
120,554,383 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R6608:Cdan1
|
UTSW |
2 |
120,557,161 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R7055:Cdan1
|
UTSW |
2 |
120,558,342 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7065:Cdan1
|
UTSW |
2 |
120,549,402 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7225:Cdan1
|
UTSW |
2 |
120,555,393 (GRCm39) |
missense |
probably benign |
|
|
R7238:Cdan1
|
UTSW |
2 |
120,560,783 (GRCm39) |
missense |
probably benign |
|
|
R7316:Cdan1
|
UTSW |
2 |
120,558,813 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7325:Cdan1
|
UTSW |
2 |
120,555,185 (GRCm39) |
missense |
probably benign |
0.25 |
|
R7432:Cdan1
|
UTSW |
2 |
120,553,236 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7517:Cdan1
|
UTSW |
2 |
120,558,405 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7691:Cdan1
|
UTSW |
2 |
120,560,048 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8004:Cdan1
|
UTSW |
2 |
120,561,924 (GRCm39) |
missense |
unknown |
|
|
R8324:Cdan1
|
UTSW |
2 |
120,557,806 (GRCm39) |
missense |
probably benign |
0.07 |
|
R8465:Cdan1
|
UTSW |
2 |
120,558,921 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8932:Cdan1
|
UTSW |
2 |
120,561,568 (GRCm39) |
nonsense |
probably null |
|
|
R9462:Cdan1
|
UTSW |
2 |
120,560,060 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R9718:Cdan1
|
UTSW |
2 |
120,554,650 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0050:Cdan1
|
UTSW |
2 |
120,554,626 (GRCm39) |
missense |
probably benign |
0.29 |
|
Z1088:Cdan1
|
UTSW |
2 |
120,560,817 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGAATGTCTCCCTGCAAGG -3'
(R):5'- CTGTACGTAGGAAGGAAGCCTG -3'
Sequencing Primer
(F):5'- CTGCAAGGGCTAGTCATGAC -3'
(R):5'- GCAGCTAGCAGGCCAGTAG -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation