Incidental Mutation 'R0881:Cdan1'
| ID |
80504 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cdan1
|
| Ensembl Gene |
ENSMUSG00000027284 |
| Gene Name |
codanin 1 |
| Synonyms |
1500015A01Rik, codanin-1, CDA1, CDA-I |
| MMRRC Submission |
039048-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0881 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
120546635-120561998 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 120551466 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 1039
(V1039E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106328
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000110700]
[ENSMUST00000110701]
[ENSMUST00000140843]
[ENSMUST00000154193]
|
| AlphaFold |
Q8CC12 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000110700
AA Change: V1039E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000106328
Gene: ENSMUSG00000027284
AA Change: V1039E
| 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: V1046E
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000106329
Gene: ENSMUSG00000027284
AA Change: V1046E
| 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: ENSMUST00000126753
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129384
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140843
|
| SMART Domains |
Protein: ENSMUSP00000117178
Gene: ENSMUSG00000033705
| Domain | Start | End | E-Value | Type |
|---|
|
FHA
|
63 |
115 |
2.8e-4 |
SMART |
|
coiled coil region
|
334 |
354 |
N/A |
INTRINSIC |
|
low complexity region
|
573 |
584 |
N/A |
INTRINSIC |
|
low complexity region
|
866 |
871 |
N/A |
INTRINSIC |
|
low complexity region
|
1023 |
1035 |
N/A |
INTRINSIC |
|
low complexity region
|
1234 |
1248 |
N/A |
INTRINSIC |
|
low complexity region
|
1765 |
1775 |
N/A |
INTRINSIC |
|
low complexity region
|
2546 |
2559 |
N/A |
INTRINSIC |
|
low complexity region
|
2953 |
2963 |
N/A |
INTRINSIC |
|
low complexity region
|
3269 |
3281 |
N/A |
INTRINSIC |
|
low complexity region
|
3421 |
3435 |
N/A |
INTRINSIC |
|
coiled coil region
|
3767 |
3808 |
N/A |
INTRINSIC |
|
low complexity region
|
3812 |
3821 |
N/A |
INTRINSIC |
|
low complexity region
|
3827 |
3844 |
N/A |
INTRINSIC |
|
low complexity region
|
3904 |
3925 |
N/A |
INTRINSIC |
|
SCOP:d1jssa_
|
3946 |
4142 |
1e-28 |
SMART |
|
Blast:START
|
3947 |
4143 |
1e-10 |
BLAST |
|
| 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 |
|
| Meta Mutation Damage Score |
0.3297 |
| Coding Region Coverage |
- 1x: 99.6%
- 3x: 98.9%
- 10x: 97.0%
- 20x: 93.0%
|
| Validation Efficiency |
96% (51/53) |
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aasdh |
G |
A |
5: 77,024,130 (GRCm39) |
T174M |
probably damaging |
Het |
| Abcc9 |
T |
A |
6: 142,592,029 (GRCm39) |
I732F |
probably damaging |
Het |
| Adam10 |
T |
C |
9: 70,653,519 (GRCm39) |
S248P |
probably damaging |
Het |
| Adam18 |
A |
T |
8: 25,162,159 (GRCm39) |
|
probably benign |
Het |
| Angel2 |
G |
A |
1: 190,669,661 (GRCm39) |
E114K |
probably damaging |
Het |
| Arhgap29 |
A |
G |
3: 121,808,328 (GRCm39) |
T1169A |
probably damaging |
Het |
| Atp13a2 |
T |
A |
4: 140,731,242 (GRCm39) |
M759K |
probably damaging |
Het |
| Atxn2l |
A |
G |
7: 126,095,768 (GRCm39) |
S450P |
probably damaging |
Het |
| B3glct |
T |
A |
5: 149,663,034 (GRCm39) |
V264E |
probably damaging |
Het |
| Bbx |
A |
G |
16: 50,040,963 (GRCm39) |
|
probably benign |
Het |
| Bmp3 |
A |
G |
5: 99,020,461 (GRCm39) |
N295D |
possibly damaging |
Het |
| C9 |
G |
A |
15: 6,488,349 (GRCm39) |
|
probably benign |
Het |
| Cacna1c |
C |
T |
6: 118,589,586 (GRCm39) |
R1446H |
probably damaging |
Het |
| Dennd4a |
T |
C |
9: 64,758,665 (GRCm39) |
|
probably null |
Het |
| Ext1 |
A |
G |
15: 53,207,879 (GRCm39) |
L294P |
probably benign |
Het |
| Fsip2 |
C |
A |
2: 82,816,617 (GRCm39) |
H4117N |
possibly damaging |
Het |
| Itga8 |
C |
T |
2: 12,267,003 (GRCm39) |
|
probably null |
Het |
| Itln1 |
G |
T |
1: 171,360,949 (GRCm39) |
H48N |
probably benign |
Het |
| Kcna5 |
T |
A |
6: 126,511,957 (GRCm39) |
H57L |
probably benign |
Het |
| Klhdc4 |
A |
T |
8: 122,526,226 (GRCm39) |
Y304* |
probably null |
Het |
| Klhl25 |
A |
G |
7: 75,516,027 (GRCm39) |
Y6C |
probably damaging |
Het |
| Lars1 |
C |
T |
18: 42,347,851 (GRCm39) |
V991M |
probably benign |
Het |
| Med20 |
T |
C |
17: 47,922,605 (GRCm39) |
M1T |
probably null |
Het |
| Mslnl |
A |
T |
17: 25,961,939 (GRCm39) |
H138L |
possibly damaging |
Het |
| Mycbp2 |
T |
C |
14: 103,457,449 (GRCm39) |
I1583V |
probably benign |
Het |
| Nipbl |
A |
C |
15: 8,337,096 (GRCm39) |
V2093G |
probably damaging |
Het |
| Nup98 |
T |
A |
7: 101,809,923 (GRCm39) |
T536S |
probably damaging |
Het |
| Opalin |
T |
C |
19: 41,052,420 (GRCm39) |
|
probably null |
Het |
| Or1j12 |
T |
G |
2: 36,343,452 (GRCm39) |
L285R |
probably damaging |
Het |
| Or51d1 |
T |
A |
7: 102,348,291 (GRCm39) |
V282D |
possibly damaging |
Het |
| Or8g26 |
A |
G |
9: 39,095,984 (GRCm39) |
K170R |
probably benign |
Het |
| Pgm2 |
A |
T |
5: 64,250,351 (GRCm39) |
T9S |
unknown |
Het |
| Piwil2 |
A |
C |
14: 70,646,376 (GRCm39) |
S387A |
probably benign |
Het |
| Polr1c |
T |
C |
17: 46,555,539 (GRCm39) |
T240A |
possibly damaging |
Het |
| Polr3c |
A |
G |
3: 96,631,163 (GRCm39) |
M118T |
probably damaging |
Het |
| Pth1r |
C |
T |
9: 110,560,641 (GRCm39) |
C42Y |
probably damaging |
Het |
| Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
| Rictor |
A |
T |
15: 6,821,151 (GRCm39) |
M1492L |
probably benign |
Het |
| Rrbp1 |
T |
A |
2: 143,795,173 (GRCm39) |
Y1277F |
probably benign |
Het |
| Scgb3a2 |
T |
G |
18: 43,897,549 (GRCm39) |
|
probably benign |
Het |
| Skint1 |
G |
A |
4: 111,886,054 (GRCm39) |
S327N |
probably benign |
Het |
| Steap4 |
A |
T |
5: 8,030,388 (GRCm39) |
S415C |
probably benign |
Het |
| Tex48 |
A |
G |
4: 63,530,228 (GRCm39) |
|
probably benign |
Het |
| Tox2 |
T |
A |
2: 163,163,365 (GRCm39) |
S502T |
probably benign |
Het |
| Usp47 |
T |
A |
7: 111,690,643 (GRCm39) |
I762K |
possibly damaging |
Het |
| Vmn2r53 |
T |
C |
7: 12,334,859 (GRCm39) |
H267R |
probably benign |
Het |
| Wnt2b |
A |
G |
3: 104,860,513 (GRCm39) |
|
probably benign |
Het |
| Xirp1 |
T |
C |
9: 119,847,483 (GRCm39) |
N28D |
possibly damaging |
Het |
| Zeb1 |
T |
C |
18: 5,767,138 (GRCm39) |
S550P |
probably benign |
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 |
|
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 |
|
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'- GCAGAAGAGCACATCCTATGCTCC -3'
(R):5'- TGCCTGAGCCTCAGCCATAAGAAC -3'
Sequencing Primer
(F):5'- GCTTGTACGCAACCTTGG -3'
(R):5'- GAACACCTTGACCCAGTTGC -3'
|
| Posted On |
2013-11-07 |
Incidental Mutation