Incidental Mutation 'R7055:Cdan1'
ID |
547826 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cdan1
|
Ensembl Gene |
ENSMUSG00000027284 |
Gene Name |
codanin 1 |
Synonyms |
1500015A01Rik, codanin-1, CDA1, CDA-I |
MMRRC Submission |
045152-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7055 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
120546635-120561998 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 120558342 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 490
(I490T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000106329
(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 |
possibly damaging
Transcript: ENSMUST00000110700
AA Change: I490T
PolyPhen 2
Score 0.586 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000106328 Gene: ENSMUSG00000027284 AA Change: I490T
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: I490T
PolyPhen 2
Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000106329 Gene: ENSMUSG00000027284 AA Change: I490T
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 |
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: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
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: 76 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700113H08Rik |
T |
C |
10: 87,062,083 (GRCm39) |
S178P |
probably damaging |
Het |
2610008E11Rik |
C |
T |
10: 78,903,681 (GRCm39) |
E212K |
probably damaging |
Het |
Abcc4 |
A |
T |
14: 118,832,197 (GRCm39) |
L736* |
probably null |
Het |
Acmsd |
A |
T |
1: 127,681,570 (GRCm39) |
M178L |
probably benign |
Het |
Adpgk |
T |
A |
9: 59,220,476 (GRCm39) |
M266K |
possibly damaging |
Het |
Aldh1b1 |
G |
A |
4: 45,802,909 (GRCm39) |
R149H |
possibly damaging |
Het |
Aox1 |
A |
G |
1: 58,338,927 (GRCm39) |
T307A |
probably benign |
Het |
C1galt1 |
T |
C |
6: 7,866,585 (GRCm39) |
Y144H |
probably damaging |
Het |
Cabin1 |
G |
C |
10: 75,579,117 (GRCm39) |
Q440E |
probably benign |
Het |
Casq2 |
A |
G |
3: 102,049,561 (GRCm39) |
S231G |
probably damaging |
Het |
Catsper2 |
TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT |
TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT |
2: 121,228,053 (GRCm39) |
|
probably benign |
Het |
Cep170b |
T |
A |
12: 112,702,149 (GRCm39) |
V314E |
probably damaging |
Het |
Col4a4 |
T |
C |
1: 82,496,757 (GRCm39) |
E413G |
unknown |
Het |
Cyp3a25 |
A |
C |
5: 145,929,801 (GRCm39) |
F189L |
probably benign |
Het |
Dido1 |
T |
A |
2: 180,303,002 (GRCm39) |
H1634L |
probably benign |
Het |
Dnaja2 |
A |
C |
8: 86,275,303 (GRCm39) |
V156G |
probably benign |
Het |
Dpy19l4 |
T |
C |
4: 11,290,291 (GRCm39) |
|
probably null |
Het |
Eomes |
A |
T |
9: 118,309,567 (GRCm39) |
N240I |
possibly damaging |
Het |
Fads6 |
A |
G |
11: 115,176,229 (GRCm39) |
F199L |
probably benign |
Het |
Fbrs |
T |
C |
7: 127,086,956 (GRCm39) |
|
probably null |
Het |
Fndc4 |
T |
C |
5: 31,451,522 (GRCm39) |
E153G |
probably benign |
Het |
Fv1 |
TTCTCTCTCTCTCTC |
TTCTCTCTCTCTCTCTC |
4: 147,954,775 (GRCm39) |
|
probably null |
Het |
Fzr1 |
T |
C |
10: 81,206,057 (GRCm39) |
Y210C |
probably damaging |
Het |
Gjc2 |
T |
A |
11: 59,067,856 (GRCm39) |
M209L |
unknown |
Het |
Gpr33 |
A |
G |
12: 52,071,036 (GRCm39) |
M1T |
probably null |
Het |
Gtf2a1 |
A |
T |
12: 91,553,523 (GRCm39) |
I28N |
possibly damaging |
Het |
Igf2r |
A |
C |
17: 12,923,210 (GRCm39) |
Y1200D |
probably damaging |
Het |
Ivd |
C |
T |
2: 118,703,730 (GRCm39) |
T212I |
probably damaging |
Het |
Jag1 |
A |
G |
2: 136,957,409 (GRCm39) |
V101A |
probably benign |
Het |
Kansl3 |
A |
T |
1: 36,404,701 (GRCm39) |
V83D |
possibly damaging |
Het |
Krt81 |
T |
A |
15: 101,359,006 (GRCm39) |
I249F |
probably benign |
Het |
Krtap21-1 |
G |
A |
16: 89,200,591 (GRCm39) |
S17L |
unknown |
Het |
Macf1 |
A |
T |
4: 123,302,989 (GRCm39) |
H504Q |
probably benign |
Het |
Map2 |
A |
G |
1: 66,455,983 (GRCm39) |
T1499A |
probably damaging |
Het |
Map3k9 |
T |
C |
12: 81,770,982 (GRCm39) |
T892A |
probably damaging |
Het |
Mcl1 |
G |
A |
3: 95,567,110 (GRCm39) |
V178I |
probably benign |
Het |
Mrs2 |
T |
A |
13: 25,188,937 (GRCm39) |
M126L |
probably benign |
Het |
Msantd1 |
C |
A |
5: 35,075,005 (GRCm39) |
N9K |
probably benign |
Het |
Myh9 |
C |
T |
15: 77,659,398 (GRCm39) |
R116H |
probably damaging |
Het |
Nfib |
A |
T |
4: 82,248,662 (GRCm39) |
D308E |
probably benign |
Het |
Nme2 |
T |
A |
11: 93,846,416 (GRCm39) |
I11F |
probably damaging |
Het |
Nmnat3 |
A |
G |
9: 98,292,286 (GRCm39) |
D111G |
probably benign |
Het |
Or5d37 |
T |
A |
2: 87,924,045 (GRCm39) |
L78F |
probably damaging |
Het |
Papss2 |
T |
C |
19: 32,641,827 (GRCm39) |
W501R |
probably damaging |
Het |
Parn |
A |
G |
16: 13,443,998 (GRCm39) |
I384T |
possibly damaging |
Het |
Pcdhb18 |
A |
G |
18: 37,623,864 (GRCm39) |
D398G |
possibly damaging |
Het |
Pdcl2 |
T |
C |
5: 76,465,771 (GRCm39) |
N102D |
probably benign |
Het |
Pdzrn3 |
C |
A |
6: 101,128,735 (GRCm39) |
E644* |
probably null |
Het |
Pi4ka |
T |
A |
16: 17,134,879 (GRCm39) |
|
probably benign |
Het |
Polg2 |
A |
G |
11: 106,668,040 (GRCm39) |
F216L |
probably damaging |
Het |
Prkcsh |
A |
G |
9: 21,924,457 (GRCm39) |
*522W |
probably null |
Het |
Prkcz |
G |
T |
4: 155,374,091 (GRCm39) |
D108E |
probably benign |
Het |
Pros1 |
T |
C |
16: 62,748,465 (GRCm39) |
V646A |
possibly damaging |
Het |
Ptprc |
A |
G |
1: 138,017,309 (GRCm39) |
I483T |
probably damaging |
Het |
Rabep2 |
T |
C |
7: 126,044,485 (GRCm39) |
I527T |
possibly damaging |
Het |
Rad50 |
T |
C |
11: 53,578,929 (GRCm39) |
K543R |
probably benign |
Het |
Samd4b |
A |
G |
7: 28,103,458 (GRCm39) |
I553T |
probably benign |
Het |
Sbpl |
A |
T |
17: 24,172,276 (GRCm39) |
N214K |
unknown |
Het |
Scgb2b11 |
C |
T |
7: 31,909,907 (GRCm39) |
E60K |
possibly damaging |
Het |
Sgk3 |
G |
A |
1: 9,956,284 (GRCm39) |
E331K |
probably damaging |
Het |
Snx6 |
A |
T |
12: 54,830,864 (GRCm39) |
L32Q |
probably damaging |
Het |
Srgap3 |
T |
A |
6: 112,723,924 (GRCm39) |
Q512L |
probably damaging |
Het |
Srsf12 |
A |
G |
4: 33,226,157 (GRCm39) |
D135G |
probably damaging |
Het |
Steap4 |
A |
G |
5: 8,026,858 (GRCm39) |
T274A |
probably damaging |
Het |
Svep1 |
A |
T |
4: 58,064,275 (GRCm39) |
V3236D |
probably benign |
Het |
Svep1 |
A |
T |
4: 58,120,642 (GRCm39) |
F797Y |
probably benign |
Het |
Tmem116 |
T |
C |
5: 121,605,987 (GRCm39) |
L113P |
probably damaging |
Het |
Tnfrsf1b |
A |
G |
4: 144,951,457 (GRCm39) |
V161A |
probably damaging |
Het |
Tnpo1 |
G |
T |
13: 98,991,987 (GRCm39) |
Q622K |
possibly damaging |
Het |
Top1mt |
A |
G |
15: 75,550,523 (GRCm39) |
V28A |
probably benign |
Het |
Trim25 |
T |
C |
11: 88,890,750 (GRCm39) |
S146P |
probably benign |
Het |
Tuba3b |
A |
G |
6: 145,566,935 (GRCm39) |
D392G |
possibly damaging |
Het |
Utrn |
C |
T |
10: 12,623,665 (GRCm39) |
R191Q |
probably benign |
Het |
Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
Wdfy2 |
T |
A |
14: 63,137,748 (GRCm39) |
S84T |
probably benign |
Het |
Zfp873 |
T |
A |
10: 81,895,832 (GRCm39) |
F225I |
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 |
R6608:Cdan1
|
UTSW |
2 |
120,557,161 (GRCm39) |
missense |
possibly damaging |
0.78 |
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'- CAGAACAAGTGCATGGCATCC -3'
(R):5'- TATGGGGTTAAAGACTGGCACTG -3'
Sequencing Primer
(F):5'- CATCCCTGGGATTGAGAAGC -3'
(R):5'- CACTGTGGGCAGGCTTATCTTAAAC -3'
|
Posted On |
2019-05-13 |