Incidental Mutation 'R4866:Cdan1'
| ID |
374887 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cdan1
|
| Ensembl Gene |
ENSMUSG00000027284 |
| Gene Name |
codanin 1 |
| Synonyms |
1500015A01Rik, codanin-1, CDA1, CDA-I |
| MMRRC Submission |
042476-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4866 (G1)
|
| Quality Score |
224 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
120546635-120561998 bp(-) (GRCm39) |
| Type of Mutation |
utr 3 prime |
| DNA Base Change (assembly) |
C to A
at 120561928 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116900
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028740]
[ENSMUST00000057135]
[ENSMUST00000085840]
[ENSMUST00000110700]
[ENSMUST00000110701]
[ENSMUST00000154193]
|
| AlphaFold |
Q8CC12 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028740
|
| SMART Domains |
Protein: ENSMUSP00000028740
Gene: ENSMUSG00000090100
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase
|
90 |
347 |
7e-31 |
PFAM |
|
Pfam:Pkinase_Tyr
|
90 |
348 |
8.2e-19 |
PFAM |
|
low complexity region
|
369 |
383 |
N/A |
INTRINSIC |
|
low complexity region
|
1143 |
1156 |
N/A |
INTRINSIC |
|
low complexity region
|
1205 |
1242 |
N/A |
INTRINSIC |
|
low complexity region
|
1254 |
1271 |
N/A |
INTRINSIC |
|
low complexity region
|
1285 |
1309 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000057135
|
| SMART Domains |
Protein: ENSMUSP00000055032
Gene: ENSMUSG00000090100
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase
|
21 |
274 |
1.2e-32 |
PFAM |
|
Pfam:Pkinase_Tyr
|
21 |
280 |
3.8e-19 |
PFAM |
|
low complexity region
|
300 |
314 |
N/A |
INTRINSIC |
|
low complexity region
|
1074 |
1087 |
N/A |
INTRINSIC |
|
low complexity region
|
1136 |
1173 |
N/A |
INTRINSIC |
|
low complexity region
|
1185 |
1202 |
N/A |
INTRINSIC |
|
low complexity region
|
1216 |
1240 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000085840
|
| SMART Domains |
Protein: ENSMUSP00000083001
Gene: ENSMUSG00000090100
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase
|
21 |
274 |
1.2e-32 |
PFAM |
|
Pfam:Pkinase_Tyr
|
21 |
280 |
3.8e-19 |
PFAM |
|
low complexity region
|
300 |
314 |
N/A |
INTRINSIC |
|
low complexity region
|
1074 |
1087 |
N/A |
INTRINSIC |
|
low complexity region
|
1136 |
1173 |
N/A |
INTRINSIC |
|
low complexity region
|
1185 |
1202 |
N/A |
INTRINSIC |
|
low complexity region
|
1216 |
1240 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000110700
AA Change: V19L
|
| SMART Domains |
Protein: ENSMUSP00000106328
Gene: ENSMUSG00000027284
AA Change: V19L
| 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 |
unknown
Transcript: ENSMUST00000110701
AA Change: V19L
|
| SMART Domains |
Protein: ENSMUSP00000106329
Gene: ENSMUSG00000027284
AA Change: V19L
| 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 |
noncoding transcript
Transcript: ENSMUST00000126133
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129384
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136725
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148285
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150860
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152692
|
| 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 |
0.0758 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.0%
|
| Validation Efficiency |
99% (79/80) |
| 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: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca3 |
C |
T |
17: 24,593,274 (GRCm39) |
R224C |
probably damaging |
Het |
| Abcc5 |
A |
T |
16: 20,241,182 (GRCm39) |
M1K |
probably null |
Het |
| Ablim2 |
C |
T |
5: 35,959,766 (GRCm39) |
R73C |
possibly damaging |
Het |
| Adam5 |
A |
C |
8: 25,232,172 (GRCm39) |
|
probably null |
Het |
| Adam5 |
G |
A |
8: 25,271,619 (GRCm39) |
T596I |
probably damaging |
Het |
| Apoa2 |
T |
C |
1: 171,053,369 (GRCm39) |
|
probably null |
Het |
| Atad1 |
A |
T |
19: 32,679,964 (GRCm39) |
H79Q |
probably benign |
Het |
| Atp8a2 |
T |
C |
14: 59,928,916 (GRCm39) |
D1046G |
probably damaging |
Het |
| Bcam |
A |
G |
7: 19,499,397 (GRCm39) |
Y209H |
probably benign |
Het |
| Brpf1 |
G |
A |
6: 113,299,431 (GRCm39) |
V1120I |
probably damaging |
Het |
| Catsperb |
G |
A |
12: 101,474,208 (GRCm39) |
C302Y |
probably damaging |
Het |
| Cbl |
A |
G |
9: 44,064,166 (GRCm39) |
V790A |
probably benign |
Het |
| Ccdc60 |
T |
C |
5: 116,310,549 (GRCm39) |
D171G |
probably damaging |
Het |
| Cd300c2 |
A |
T |
11: 114,891,807 (GRCm39) |
C22* |
probably null |
Het |
| Cdk5rap1 |
C |
T |
2: 154,212,876 (GRCm39) |
|
probably null |
Het |
| Cfap410 |
T |
A |
10: 77,817,413 (GRCm39) |
|
probably null |
Het |
| Cfap65 |
T |
C |
1: 74,964,716 (GRCm39) |
D479G |
probably damaging |
Het |
| Cmbl |
A |
G |
15: 31,585,490 (GRCm39) |
K113E |
probably benign |
Het |
| Cog6 |
G |
A |
3: 52,918,019 (GRCm39) |
T173I |
probably benign |
Het |
| Cts6 |
T |
A |
13: 61,350,090 (GRCm39) |
|
probably null |
Het |
| Cyp11a1 |
G |
A |
9: 57,933,380 (GRCm39) |
V413M |
probably damaging |
Het |
| Cyp2c39 |
G |
A |
19: 39,502,020 (GRCm39) |
M136I |
probably benign |
Het |
| Dclre1b |
A |
T |
3: 103,715,412 (GRCm39) |
Y29N |
probably damaging |
Het |
| Depdc1a |
T |
A |
3: 159,221,764 (GRCm39) |
I236K |
probably damaging |
Het |
| Dhx36 |
A |
T |
3: 62,380,198 (GRCm39) |
Y833N |
probably damaging |
Het |
| Dop1b |
G |
T |
16: 93,560,318 (GRCm39) |
|
probably null |
Het |
| Elovl3 |
A |
G |
19: 46,120,603 (GRCm39) |
E32G |
possibly damaging |
Het |
| Entrep1 |
A |
G |
19: 23,952,790 (GRCm39) |
S507P |
possibly damaging |
Het |
| Epcam |
T |
C |
17: 87,951,049 (GRCm39) |
V212A |
possibly damaging |
Het |
| Fcrl2 |
A |
T |
3: 87,170,773 (GRCm39) |
C4S |
possibly damaging |
Het |
| Galnt16 |
T |
C |
12: 80,630,851 (GRCm39) |
Y310H |
probably damaging |
Het |
| Gm12789 |
G |
A |
4: 101,846,182 (GRCm39) |
|
probably benign |
Het |
| Gspt1 |
C |
T |
16: 11,040,529 (GRCm39) |
R593H |
possibly damaging |
Het |
| Hmcn2 |
A |
T |
2: 31,279,403 (GRCm39) |
T1802S |
possibly damaging |
Het |
| Igha |
A |
G |
12: 113,223,129 (GRCm39) |
V166A |
probably benign |
Het |
| Itfg2 |
A |
G |
6: 128,393,279 (GRCm39) |
|
probably benign |
Het |
| Jund |
T |
C |
8: 71,152,254 (GRCm39) |
V183A |
probably damaging |
Het |
| Katnb1 |
T |
C |
8: 95,824,132 (GRCm39) |
S471P |
possibly damaging |
Het |
| Kazn |
A |
G |
4: 141,832,216 (GRCm39) |
F661S |
unknown |
Het |
| Kif19a |
G |
A |
11: 114,658,053 (GRCm39) |
M37I |
probably benign |
Het |
| Lgr5 |
C |
T |
10: 115,288,590 (GRCm39) |
V661I |
probably benign |
Het |
| Lvrn |
G |
T |
18: 47,026,768 (GRCm39) |
A789S |
probably damaging |
Het |
| Mapk10 |
T |
C |
5: 103,111,391 (GRCm39) |
D351G |
probably damaging |
Het |
| Mga |
T |
A |
2: 119,794,535 (GRCm39) |
C2622S |
possibly damaging |
Het |
| Mios |
T |
G |
6: 8,214,857 (GRCm39) |
F18V |
probably damaging |
Het |
| Mllt6 |
A |
G |
11: 97,565,285 (GRCm39) |
D575G |
probably damaging |
Het |
| Mmp10 |
G |
A |
9: 7,508,190 (GRCm39) |
V439M |
probably damaging |
Het |
| Myh4 |
A |
G |
11: 67,139,453 (GRCm39) |
D590G |
probably benign |
Het |
| Ndufs2 |
C |
T |
1: 171,074,618 (GRCm39) |
G14R |
probably benign |
Het |
| Or10ad1b |
T |
A |
15: 98,125,371 (GRCm39) |
I52F |
probably damaging |
Het |
| Or51a7 |
A |
T |
7: 102,614,927 (GRCm39) |
M207L |
probably benign |
Het |
| Or56a4 |
T |
C |
7: 104,806,514 (GRCm39) |
Y125C |
possibly damaging |
Het |
| Or8g26 |
A |
G |
9: 39,096,367 (GRCm39) |
K298E |
probably damaging |
Het |
| Plau |
G |
T |
14: 20,887,872 (GRCm39) |
V39L |
probably benign |
Het |
| Ppp3cb |
A |
G |
14: 20,573,911 (GRCm39) |
C275R |
probably damaging |
Het |
| Ppp4r4 |
T |
G |
12: 103,566,706 (GRCm39) |
M51R |
possibly damaging |
Het |
| Prr5 |
A |
G |
15: 84,626,105 (GRCm39) |
Y60C |
probably damaging |
Het |
| Ptprt |
T |
C |
2: 161,402,159 (GRCm39) |
D1023G |
probably damaging |
Het |
| Raly |
T |
A |
2: 154,703,816 (GRCm39) |
V129E |
probably damaging |
Het |
| Rsph10b |
A |
G |
5: 143,885,347 (GRCm39) |
E249G |
probably benign |
Het |
| Sart1 |
A |
C |
19: 5,432,248 (GRCm39) |
L577W |
probably damaging |
Het |
| Senp1 |
T |
C |
15: 97,964,729 (GRCm39) |
E189G |
possibly damaging |
Het |
| Slc22a2 |
G |
T |
17: 12,803,316 (GRCm39) |
C50F |
probably damaging |
Het |
| Spem1 |
A |
T |
11: 69,711,755 (GRCm39) |
V303E |
probably damaging |
Het |
| Tgfb3 |
A |
G |
12: 86,124,588 (GRCm39) |
V40A |
possibly damaging |
Het |
| Ttl |
T |
C |
2: 128,923,147 (GRCm39) |
S163P |
probably damaging |
Het |
| Ttll9 |
C |
A |
2: 152,844,920 (GRCm39) |
N429K |
probably benign |
Het |
| Uggt1 |
G |
A |
1: 36,241,936 (GRCm39) |
R333* |
probably null |
Het |
| Zfhx2 |
A |
G |
14: 55,302,993 (GRCm39) |
S1664P |
possibly damaging |
Het |
| Zfp51 |
T |
A |
17: 21,682,012 (GRCm39) |
D70E |
possibly damaging |
Het |
| Zfp592 |
T |
A |
7: 80,691,607 (GRCm39) |
V1262E |
probably damaging |
Het |
| Zfp595 |
C |
A |
13: 67,465,760 (GRCm39) |
G168C |
probably damaging |
Het |
| Zswim9 |
A |
T |
7: 12,995,095 (GRCm39) |
S354T |
probably damaging |
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 |
|
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 |
|
R8556:Cdan1
|
UTSW |
2 |
120,553,471 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- ACGAATTCCTTCCGCAGAGG -3'
(R):5'- AATCAGAGAAAGGCGCCTC -3'
Sequencing Primer
(F):5'- CTCGGAGCTATCCTGAGGAAG -3'
(R):5'- TGGCTGGGCAGATCTTCC -3'
|
| Posted On |
2016-03-17 |
Incidental Mutation