Incidental Mutation 'R1579:Cdan1'
ID |
171265 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cdan1
|
Ensembl Gene |
ENSMUSG00000027284 |
Gene Name |
codanin 1 |
Synonyms |
1500015A01Rik, codanin-1, CDA1, CDA-I |
MMRRC Submission |
039616-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R1579 (G1)
|
Quality Score |
203 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
120546635-120561998 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 120561220 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 183
(F183L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000106328
(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 |
probably damaging
Transcript: ENSMUST00000110700
AA Change: F183L
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000106328 Gene: ENSMUSG00000027284 AA Change: F183L
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: F182L
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000106329 Gene: ENSMUSG00000027284 AA Change: F182L
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: ENSMUST00000148285
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150860
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152692
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136725
|
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 |
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 91.8%
|
Validation Efficiency |
|
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 |
1700037C18Rik |
T |
C |
16: 3,724,039 (GRCm39) |
R162G |
probably benign |
Het |
Adamtsl4 |
T |
A |
3: 95,592,807 (GRCm39) |
|
probably benign |
Het |
Adgrv1 |
A |
T |
13: 81,711,898 (GRCm39) |
L306H |
probably damaging |
Het |
Aknad1 |
T |
A |
3: 108,659,452 (GRCm39) |
Y155* |
probably null |
Het |
Aldh6a1 |
C |
T |
12: 84,488,622 (GRCm39) |
R88H |
possibly damaging |
Het |
Apc2 |
G |
C |
10: 80,147,179 (GRCm39) |
K715N |
probably damaging |
Het |
Arhgap45 |
G |
A |
10: 79,864,811 (GRCm39) |
V798M |
probably damaging |
Het |
Calcrl |
T |
C |
2: 84,163,881 (GRCm39) |
T437A |
probably benign |
Het |
Chmp7 |
C |
T |
14: 69,956,899 (GRCm39) |
M336I |
probably benign |
Het |
Cntnap4 |
A |
G |
8: 113,608,462 (GRCm39) |
E1294G |
possibly damaging |
Het |
Crybg3 |
C |
A |
16: 59,350,561 (GRCm39) |
G2607V |
probably damaging |
Het |
Dhx29 |
G |
T |
13: 113,072,132 (GRCm39) |
|
probably null |
Het |
Dmrtb1 |
T |
A |
4: 107,541,322 (GRCm39) |
H13L |
probably damaging |
Het |
Echdc2 |
A |
G |
4: 108,031,006 (GRCm39) |
M162V |
probably benign |
Het |
Entpd8 |
A |
G |
2: 24,974,986 (GRCm39) |
D439G |
possibly damaging |
Het |
Fastkd2 |
C |
G |
1: 63,785,046 (GRCm39) |
H477Q |
probably null |
Het |
Fbrs |
A |
G |
7: 127,084,529 (GRCm39) |
E517G |
probably damaging |
Het |
Gchfr |
A |
G |
2: 119,002,502 (GRCm39) |
T71A |
possibly damaging |
Het |
Hecw1 |
A |
T |
13: 14,552,492 (GRCm39) |
C35S |
probably damaging |
Het |
Izumo1r |
C |
T |
9: 14,813,098 (GRCm39) |
R58H |
probably benign |
Het |
Kif13a |
T |
C |
13: 46,906,332 (GRCm39) |
E537G |
possibly damaging |
Het |
Kif13b |
G |
A |
14: 65,019,790 (GRCm39) |
|
probably null |
Het |
Kremen1 |
CGGG |
CGGGGGG |
11: 5,151,791 (GRCm39) |
|
probably benign |
Het |
Lnpk |
A |
T |
2: 74,378,340 (GRCm39) |
D140E |
probably damaging |
Het |
Ltbp1 |
A |
G |
17: 75,559,362 (GRCm39) |
M284V |
probably benign |
Het |
Me3 |
A |
T |
7: 89,495,050 (GRCm39) |
T323S |
possibly damaging |
Het |
Mtus1 |
A |
G |
8: 41,535,895 (GRCm39) |
V607A |
probably damaging |
Het |
Myh14 |
A |
T |
7: 44,305,118 (GRCm39) |
|
probably null |
Het |
Myo1h |
T |
A |
5: 114,485,496 (GRCm39) |
C545* |
probably null |
Het |
Nbn |
T |
A |
4: 15,964,289 (GRCm39) |
D121E |
probably damaging |
Het |
Nox4 |
A |
G |
7: 87,019,231 (GRCm39) |
Y408C |
probably damaging |
Het |
Nup214 |
C |
T |
2: 31,924,478 (GRCm39) |
S1669F |
probably damaging |
Het |
Or10q1b |
A |
G |
19: 13,682,566 (GRCm39) |
D125G |
probably damaging |
Het |
Or52d3 |
T |
A |
7: 104,229,268 (GRCm39) |
Y138* |
probably null |
Het |
Or5w20 |
G |
A |
2: 87,727,286 (GRCm39) |
A248T |
probably benign |
Het |
Osbpl5 |
T |
C |
7: 143,262,939 (GRCm39) |
T150A |
possibly damaging |
Het |
Pgap3 |
C |
A |
11: 98,280,879 (GRCm39) |
M265I |
probably benign |
Het |
Pirb |
A |
T |
7: 3,720,637 (GRCm39) |
L287Q |
probably benign |
Het |
Pkd2l2 |
A |
T |
18: 34,560,446 (GRCm39) |
N351I |
possibly damaging |
Het |
Prkdc |
T |
A |
16: 15,493,192 (GRCm39) |
Y700N |
probably benign |
Het |
Pzp |
A |
G |
6: 128,500,931 (GRCm39) |
|
probably null |
Het |
Rfwd3 |
C |
T |
8: 112,014,874 (GRCm39) |
R326Q |
probably damaging |
Het |
Rptor |
A |
T |
11: 119,786,827 (GRCm39) |
Q1264L |
probably benign |
Het |
Scnn1a |
T |
C |
6: 125,299,103 (GRCm39) |
F61S |
probably damaging |
Het |
Tenm2 |
C |
A |
11: 35,997,610 (GRCm39) |
W825C |
probably damaging |
Het |
Tex264 |
A |
T |
9: 106,559,116 (GRCm39) |
I70N |
possibly damaging |
Het |
Tns2 |
G |
T |
15: 102,019,645 (GRCm39) |
D504Y |
probably damaging |
Het |
Trappc14 |
T |
C |
5: 138,260,128 (GRCm39) |
I338V |
probably benign |
Het |
Trpc2 |
T |
A |
7: 101,733,447 (GRCm39) |
F132Y |
probably damaging |
Het |
Trpm4 |
A |
G |
7: 44,958,021 (GRCm39) |
F816S |
probably damaging |
Het |
Uqcc1 |
G |
A |
2: 155,763,641 (GRCm39) |
Q5* |
probably null |
Het |
Usp36 |
G |
T |
11: 118,175,771 (GRCm39) |
T130N |
probably damaging |
Het |
Vav1 |
A |
G |
17: 57,604,252 (GRCm39) |
M165V |
probably benign |
Het |
Vmn1r64 |
A |
T |
7: 5,886,803 (GRCm39) |
F247I |
probably damaging |
Het |
Vmn2r26 |
G |
C |
6: 124,016,706 (GRCm39) |
R390P |
probably benign |
Het |
Vmn2r57 |
G |
T |
7: 41,049,548 (GRCm39) |
H734N |
probably benign |
Het |
Wfdc16 |
G |
T |
2: 164,477,843 (GRCm39) |
H69N |
possibly damaging |
Het |
Zfp316 |
C |
T |
5: 143,239,317 (GRCm39) |
E901K |
probably damaging |
Het |
Zfp334 |
T |
C |
2: 165,223,719 (GRCm39) |
E108G |
probably damaging |
Het |
Zfp407 |
T |
C |
18: 84,227,763 (GRCm39) |
S1949G |
probably benign |
Het |
Zfp408 |
A |
G |
2: 91,476,473 (GRCm39) |
L227P |
probably benign |
Het |
Zfp560 |
T |
C |
9: 20,259,287 (GRCm39) |
H525R |
possibly damaging |
Het |
Zfp609 |
G |
A |
9: 65,611,754 (GRCm39) |
A403V |
possibly 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 |
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'- TCGAGAAGGCTTCGTTCTGCTG -3'
(R):5'- AAGGAATTCGTGCCGTTCCTGC -3'
Sequencing Primer
(F):5'- GCATCATTCCATCCATAACAGTTGG -3'
(R):5'- CTGAACTTCCTGAGGGAGCAG -3'
|
Posted On |
2014-04-13 |