Incidental Mutation 'R1110:Cdan1'
ID |
96558 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cdan1
|
Ensembl Gene |
ENSMUSG00000027284 |
Gene Name |
codanin 1 |
Synonyms |
1500015A01Rik, codanin-1, CDA1, CDA-I |
MMRRC Submission |
039183-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R1110 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
120546635-120561998 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 120551083 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Valine
at position 1103
(A1103V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000106329
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000110700]
[ENSMUST00000110701]
[ENSMUST00000140843]
[ENSMUST00000154193]
[ENSMUST00000180041]
|
AlphaFold |
Q8CC12 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000070420
|
SMART Domains |
Protein: ENSMUSP00000070111 Gene: ENSMUSG00000033705
Domain | Start | End | E-Value | Type |
coiled coil region
|
97 |
138 |
N/A |
INTRINSIC |
low complexity region
|
142 |
151 |
N/A |
INTRINSIC |
low complexity region
|
157 |
174 |
N/A |
INTRINSIC |
low complexity region
|
234 |
255 |
N/A |
INTRINSIC |
Pfam:START
|
274 |
469 |
3.2e-7 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000110700
AA Change: A1096V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000106328 Gene: ENSMUSG00000027284 AA Change: A1096V
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: A1103V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000106329 Gene: ENSMUSG00000027284 AA Change: A1103V
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: 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 |
noncoding transcript
Transcript: ENSMUST00000141917
|
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 |
probably benign
Transcript: ENSMUST00000180041
|
SMART Domains |
Protein: ENSMUSP00000136055 Gene: ENSMUSG00000033705
Domain | Start | End | E-Value | Type |
KISc
|
1 |
392 |
3.31e-143 |
SMART |
low complexity region
|
398 |
409 |
N/A |
INTRINSIC |
FHA
|
481 |
533 |
2.8e-4 |
SMART |
coiled coil region
|
752 |
772 |
N/A |
INTRINSIC |
low complexity region
|
991 |
1002 |
N/A |
INTRINSIC |
low complexity region
|
1284 |
1289 |
N/A |
INTRINSIC |
low complexity region
|
1441 |
1453 |
N/A |
INTRINSIC |
low complexity region
|
1652 |
1666 |
N/A |
INTRINSIC |
low complexity region
|
2183 |
2193 |
N/A |
INTRINSIC |
low complexity region
|
2964 |
2977 |
N/A |
INTRINSIC |
low complexity region
|
3371 |
3381 |
N/A |
INTRINSIC |
low complexity region
|
3687 |
3699 |
N/A |
INTRINSIC |
low complexity region
|
3839 |
3853 |
N/A |
INTRINSIC |
coiled coil region
|
4185 |
4226 |
N/A |
INTRINSIC |
low complexity region
|
4230 |
4239 |
N/A |
INTRINSIC |
low complexity region
|
4245 |
4262 |
N/A |
INTRINSIC |
low complexity region
|
4322 |
4343 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.1209 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 94.3%
|
Validation Efficiency |
97% (63/65) |
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: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acap3 |
T |
A |
4: 155,989,856 (GRCm39) |
|
probably null |
Het |
Acp2 |
A |
G |
2: 91,038,767 (GRCm39) |
|
probably null |
Het |
Akap13 |
T |
G |
7: 75,261,125 (GRCm39) |
S447A |
possibly damaging |
Het |
Alk |
G |
A |
17: 72,291,740 (GRCm39) |
|
probably benign |
Het |
Arhgef39 |
T |
C |
4: 43,496,834 (GRCm39) |
T327A |
probably benign |
Het |
Calhm5 |
T |
G |
10: 33,972,013 (GRCm39) |
I141L |
probably benign |
Het |
Cdh18 |
A |
G |
15: 23,474,403 (GRCm39) |
T758A |
probably benign |
Het |
Cdk17 |
T |
A |
10: 93,074,895 (GRCm39) |
Y3* |
probably null |
Het |
Cdon |
T |
C |
9: 35,367,733 (GRCm39) |
|
probably benign |
Het |
Cntn3 |
T |
A |
6: 102,222,119 (GRCm39) |
N460I |
probably benign |
Het |
Cntrl |
T |
A |
2: 35,050,639 (GRCm39) |
C985S |
possibly damaging |
Het |
Col6a2 |
T |
C |
10: 76,443,574 (GRCm39) |
E497G |
probably benign |
Het |
Crybg1 |
A |
G |
10: 43,875,089 (GRCm39) |
M673T |
possibly damaging |
Het |
Cyp2u1 |
A |
G |
3: 131,087,258 (GRCm39) |
I441T |
possibly damaging |
Het |
Disp2 |
T |
C |
2: 118,620,920 (GRCm39) |
S551P |
probably damaging |
Het |
Dock2 |
A |
T |
11: 34,206,535 (GRCm39) |
F1354I |
possibly damaging |
Het |
Dstyk |
A |
G |
1: 132,381,063 (GRCm39) |
|
probably benign |
Het |
Dzip1 |
T |
C |
14: 119,126,717 (GRCm39) |
N527S |
probably benign |
Het |
Eomes |
A |
G |
9: 118,313,667 (GRCm39) |
I571V |
probably benign |
Het |
Fbxl13 |
T |
C |
5: 21,689,034 (GRCm39) |
D758G |
probably benign |
Het |
Frem1 |
T |
C |
4: 82,868,557 (GRCm39) |
S1457G |
probably damaging |
Het |
Gabbr2 |
C |
T |
4: 46,718,838 (GRCm39) |
C613Y |
probably damaging |
Het |
Gm9755 |
A |
T |
8: 67,967,710 (GRCm39) |
|
noncoding transcript |
Het |
Hnrnpul2 |
A |
G |
19: 8,804,110 (GRCm39) |
R570G |
probably damaging |
Het |
Ift70a1 |
A |
T |
2: 75,810,320 (GRCm39) |
C588S |
probably damaging |
Het |
Igdcc4 |
A |
G |
9: 65,034,208 (GRCm39) |
H674R |
possibly damaging |
Het |
Kdm5d |
T |
A |
Y: 910,539 (GRCm39) |
L250H |
probably damaging |
Het |
Kif1a |
T |
C |
1: 92,951,175 (GRCm39) |
|
probably benign |
Het |
Kmt2c |
T |
C |
5: 25,519,360 (GRCm39) |
N2250S |
probably benign |
Het |
Kmt2e |
C |
T |
5: 23,707,653 (GRCm39) |
H1739Y |
probably damaging |
Het |
Lmtk3 |
T |
A |
7: 45,444,427 (GRCm39) |
|
probably benign |
Het |
Lpin3 |
A |
G |
2: 160,735,999 (GRCm39) |
D93G |
probably benign |
Het |
Myh10 |
T |
C |
11: 68,682,676 (GRCm39) |
|
probably benign |
Het |
Myom2 |
G |
A |
8: 15,172,413 (GRCm39) |
E1171K |
probably benign |
Het |
Ncoa6 |
A |
T |
2: 155,253,440 (GRCm39) |
|
probably benign |
Het |
Nup160 |
A |
G |
2: 90,563,563 (GRCm39) |
|
probably benign |
Het |
Oit3 |
G |
A |
10: 59,264,016 (GRCm39) |
R373C |
probably damaging |
Het |
Olfml2a |
A |
T |
2: 38,849,765 (GRCm39) |
I494L |
probably damaging |
Het |
Or11g27 |
T |
C |
14: 50,771,159 (GRCm39) |
S97P |
possibly damaging |
Het |
Or9r7 |
A |
G |
10: 129,962,522 (GRCm39) |
Y135H |
probably damaging |
Het |
Parp6 |
G |
T |
9: 59,556,847 (GRCm39) |
C584F |
probably damaging |
Het |
Pcgf2 |
A |
G |
11: 97,582,676 (GRCm39) |
|
probably benign |
Het |
Pde3a |
T |
C |
6: 141,405,042 (GRCm39) |
|
probably benign |
Het |
Pibf1 |
C |
T |
14: 99,350,409 (GRCm39) |
R186C |
probably damaging |
Het |
Pitrm1 |
A |
G |
13: 6,608,280 (GRCm39) |
D335G |
probably benign |
Het |
Pkp4 |
T |
C |
2: 59,169,109 (GRCm39) |
L752P |
probably damaging |
Het |
Plcb3 |
C |
A |
19: 6,939,281 (GRCm39) |
E566* |
probably null |
Het |
Prune2 |
T |
C |
19: 17,102,586 (GRCm39) |
S2582P |
probably benign |
Het |
Reln |
A |
T |
5: 22,239,773 (GRCm39) |
D831E |
probably benign |
Het |
Samd9l |
T |
A |
6: 3,374,267 (GRCm39) |
D998V |
probably benign |
Het |
Sardh |
G |
A |
2: 27,081,931 (GRCm39) |
T865I |
possibly damaging |
Het |
Setbp1 |
G |
A |
18: 78,901,075 (GRCm39) |
T864I |
probably damaging |
Het |
Slc9a1 |
T |
A |
4: 133,097,859 (GRCm39) |
M2K |
probably benign |
Het |
Sorbs2 |
A |
G |
8: 46,248,767 (GRCm39) |
T593A |
probably benign |
Het |
Spata31e3 |
A |
T |
13: 50,402,296 (GRCm39) |
D83E |
possibly damaging |
Het |
Svs5 |
A |
T |
2: 164,175,507 (GRCm39) |
I120L |
probably benign |
Het |
Tcl1b1 |
G |
T |
12: 105,126,074 (GRCm39) |
V19F |
probably damaging |
Het |
Urgcp |
T |
C |
11: 5,666,004 (GRCm39) |
N778S |
probably benign |
Het |
Vnn1 |
A |
T |
10: 23,775,499 (GRCm39) |
I250F |
possibly damaging |
Het |
Xntrpc |
A |
G |
7: 101,732,181 (GRCm39) |
R365G |
possibly damaging |
Het |
Zfp84 |
T |
A |
7: 29,470,797 (GRCm39) |
M1K |
probably null |
Het |
Zfyve26 |
G |
A |
12: 79,326,841 (GRCm39) |
R761C |
probably damaging |
Het |
Zp3r |
A |
G |
1: 130,505,621 (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 |
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'- CTTGGCCTAGTATCTGCCAGAAGC -3'
(R):5'- CAGTAAGAATGACGCCCATGTCTCC -3'
Sequencing Primer
(F):5'- GCCAGAAGCCCTACATTTCTTG -3'
(R):5'- AACTGCTGAGCAGCATCTG -3'
|
Posted On |
2014-01-05 |