Incidental Mutation 'R6608:Cdan1'
ID |
526413 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cdan1
|
Ensembl Gene |
ENSMUSG00000027284 |
Gene Name |
codanin 1 |
Synonyms |
1500015A01Rik, codanin-1, CDA1, CDA-I |
MMRRC Submission |
044731-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6608 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
120546635-120561998 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 120557161 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Arginine
at position 555
(I555R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000106329
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000110700]
[ENSMUST00000110701]
[ENSMUST00000154193]
|
AlphaFold |
Q8CC12 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000110700
AA Change: I555R
PolyPhen 2
Score 0.672 (Sensitivity: 0.86; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000106328 Gene: ENSMUSG00000027284 AA Change: I555R
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 |
possibly damaging
Transcript: ENSMUST00000110701
AA Change: I555R
PolyPhen 2
Score 0.784 (Sensitivity: 0.85; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000106329 Gene: ENSMUSG00000027284 AA Change: I555R
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: ENSMUST00000124906
|
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 |
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152692
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150860
|
Meta Mutation Damage Score |
0.1795 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.2%
|
Validation Efficiency |
98% (43/44) |
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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acad10 |
T |
C |
5: 121,770,555 (GRCm39) |
T571A |
probably benign |
Het |
Adamts18 |
A |
T |
8: 114,501,911 (GRCm39) |
Y317N |
probably damaging |
Het |
Adgrg5 |
T |
C |
8: 95,668,348 (GRCm39) |
F470S |
probably damaging |
Het |
AK157302 |
T |
C |
13: 21,679,794 (GRCm39) |
S107P |
probably damaging |
Het |
Ankrd31 |
A |
G |
13: 96,969,288 (GRCm39) |
Y975C |
probably damaging |
Het |
Ankrd37 |
C |
T |
8: 46,452,891 (GRCm39) |
|
probably benign |
Het |
Aox1 |
T |
C |
1: 58,096,705 (GRCm39) |
Y267H |
probably benign |
Het |
Clns1a |
A |
G |
7: 97,365,675 (GRCm39) |
T226A |
probably benign |
Het |
Col18a1 |
C |
T |
10: 76,948,628 (GRCm39) |
|
probably benign |
Het |
Col5a3 |
C |
A |
9: 20,685,315 (GRCm39) |
V1454L |
unknown |
Het |
Coq6 |
G |
A |
12: 84,418,922 (GRCm39) |
V309I |
probably benign |
Het |
Decr2 |
C |
T |
17: 26,302,858 (GRCm39) |
V173M |
probably benign |
Het |
Dmgdh |
G |
A |
13: 93,843,252 (GRCm39) |
G363S |
possibly damaging |
Het |
Dnah7a |
A |
T |
1: 53,564,277 (GRCm39) |
D1927E |
probably benign |
Het |
Dnah8 |
G |
A |
17: 30,967,542 (GRCm39) |
D2585N |
probably benign |
Het |
Epm2a |
T |
C |
10: 11,266,731 (GRCm39) |
|
probably null |
Het |
Gm1979 |
T |
A |
5: 26,206,094 (GRCm39) |
H162L |
probably benign |
Het |
Irag1 |
A |
T |
7: 110,487,758 (GRCm39) |
S486T |
probably damaging |
Het |
Knl1 |
A |
G |
2: 118,917,093 (GRCm39) |
N1759D |
probably damaging |
Het |
Man1b1 |
T |
A |
2: 25,233,263 (GRCm39) |
V212E |
probably damaging |
Het |
Marf1 |
A |
G |
16: 13,950,578 (GRCm39) |
L936S |
probably damaging |
Het |
Mki67 |
G |
A |
7: 135,300,090 (GRCm39) |
T1648I |
probably benign |
Het |
Or2n1c |
T |
C |
17: 38,519,370 (GRCm39) |
V78A |
probably damaging |
Het |
Or3a1b |
T |
C |
11: 74,012,454 (GRCm39) |
V113A |
probably benign |
Het |
Or5d40 |
A |
G |
2: 88,016,049 (GRCm39) |
Y276C |
possibly damaging |
Het |
Or6n2 |
A |
G |
1: 173,897,295 (GRCm39) |
M144V |
probably benign |
Het |
Parp11 |
A |
G |
6: 127,454,811 (GRCm39) |
I110V |
possibly damaging |
Het |
Pcdhb5 |
A |
G |
18: 37,454,876 (GRCm39) |
T419A |
probably damaging |
Het |
Pitpnm1 |
A |
G |
19: 4,160,875 (GRCm39) |
D838G |
probably damaging |
Het |
Rbm26 |
T |
A |
14: 105,389,934 (GRCm39) |
N230I |
probably damaging |
Het |
Rnf20 |
C |
T |
4: 49,650,051 (GRCm39) |
S540F |
probably benign |
Het |
Rsad1 |
T |
C |
11: 94,433,435 (GRCm39) |
D417G |
probably damaging |
Het |
Serpina3c |
A |
T |
12: 104,115,883 (GRCm39) |
N220K |
probably benign |
Het |
Slc6a19 |
A |
G |
13: 73,832,091 (GRCm39) |
L495P |
probably damaging |
Het |
Stard7 |
A |
T |
2: 127,132,715 (GRCm39) |
K194N |
probably damaging |
Het |
Tinagl1 |
A |
G |
4: 130,066,782 (GRCm39) |
M105T |
probably benign |
Het |
Ttn |
G |
A |
2: 76,579,673 (GRCm39) |
T23740M |
probably damaging |
Het |
Tyk2 |
G |
T |
9: 21,019,312 (GRCm39) |
Q1014K |
probably benign |
Het |
Usp10 |
C |
T |
8: 120,675,161 (GRCm39) |
R461W |
probably benign |
Het |
Wsb1 |
C |
T |
11: 79,131,188 (GRCm39) |
E403K |
probably benign |
Het |
Ylpm1 |
C |
G |
12: 85,062,051 (GRCm39) |
P651A |
unknown |
Het |
Zp1 |
C |
T |
19: 10,896,344 (GRCm39) |
C127Y |
possibly damaging |
Het |
Zzef1 |
T |
A |
11: 72,803,652 (GRCm39) |
F2466L |
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 |
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 |
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'- GCAAAAGAAAATGGCTTGCC -3'
(R):5'- ATACTGGGCAGGTGTTCTCC -3'
Sequencing Primer
(F):5'- CCATTGGGGAGAGCAAATCTTTC -3'
(R):5'- AAGCTATATATCCCAAGCCTACTTTC -3'
|
Posted On |
2018-06-25 |