Incidental Mutation 'R5789:Cdan1'
| ID |
448191 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cdan1
|
| Ensembl Gene |
ENSMUSG00000027284 |
| Gene Name |
codanin 1 |
| Synonyms |
1500015A01Rik, codanin-1, CDA1, CDA-I |
| MMRRC Submission |
043383-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5789 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
120546635-120561998 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 120560016 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 383
(F383L)
|
| 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 |
probably benign
Transcript: ENSMUST00000110700
AA Change: F383L
PolyPhen 2
Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000106328
Gene: ENSMUSG00000027284
AA Change: F383L
| 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 benign
Transcript: ENSMUST00000110701
AA Change: F383L
PolyPhen 2
Score 0.225 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000106329
Gene: ENSMUSG00000027284
AA Change: F383L
| 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: ENSMUST00000150860
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148285
|
| 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 |
|
| Meta Mutation Damage Score |
0.2278 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.0%
|
| Validation Efficiency |
97% (61/63) |
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb11 |
A |
G |
2: 69,076,108 (GRCm39) |
F1200S |
probably damaging |
Het |
| Ahnak |
A |
T |
19: 8,979,685 (GRCm39) |
D323V |
probably benign |
Het |
| Aloxe3 |
T |
C |
11: 69,017,265 (GRCm39) |
Y13H |
probably damaging |
Het |
| Aqp1 |
A |
G |
6: 55,313,746 (GRCm39) |
I91V |
probably benign |
Het |
| C9orf72 |
T |
A |
4: 35,226,112 (GRCm39) |
|
probably benign |
Het |
| Carmil1 |
A |
G |
13: 24,305,831 (GRCm39) |
S318P |
probably damaging |
Het |
| Ciao3 |
T |
C |
17: 26,000,177 (GRCm39) |
C303R |
probably benign |
Het |
| Col6a2 |
T |
A |
10: 76,440,223 (GRCm39) |
E606V |
probably damaging |
Het |
| Col6a5 |
T |
C |
9: 105,741,807 (GRCm39) |
T2371A |
possibly damaging |
Het |
| Cops3 |
T |
C |
11: 59,721,106 (GRCm39) |
|
probably benign |
Het |
| Coq7 |
G |
T |
7: 118,128,929 (GRCm39) |
H35Q |
possibly damaging |
Het |
| Cp |
T |
A |
3: 20,011,454 (GRCm39) |
F3I |
probably benign |
Het |
| D630003M21Rik |
C |
T |
2: 158,058,734 (GRCm39) |
E389K |
possibly damaging |
Het |
| Dclre1c |
A |
T |
2: 3,438,993 (GRCm39) |
Q51L |
probably damaging |
Het |
| Dhx37 |
A |
C |
5: 125,498,103 (GRCm39) |
I702S |
possibly damaging |
Het |
| Dnah3 |
G |
T |
7: 119,542,822 (GRCm39) |
A3530D |
possibly damaging |
Het |
| Dnajc13 |
T |
C |
9: 104,091,387 (GRCm39) |
R635G |
probably damaging |
Het |
| Dnhd1 |
A |
G |
7: 105,354,217 (GRCm39) |
S3066G |
possibly damaging |
Het |
| Doc2b |
T |
A |
11: 75,676,941 (GRCm39) |
H144L |
probably damaging |
Het |
| Eif2b3 |
T |
A |
4: 116,885,692 (GRCm39) |
I78N |
probably damaging |
Het |
| Enpp1 |
A |
T |
10: 24,523,137 (GRCm39) |
H767Q |
probably benign |
Het |
| Fam180a |
C |
A |
6: 35,290,461 (GRCm39) |
*174L |
probably null |
Het |
| Gabra1 |
A |
T |
11: 42,073,742 (GRCm39) |
|
probably benign |
Het |
| Gfral |
C |
T |
9: 76,104,328 (GRCm39) |
R228Q |
probably benign |
Het |
| Gm16551 |
T |
A |
9: 74,756,535 (GRCm39) |
|
noncoding transcript |
Het |
| Ifi213 |
C |
A |
1: 173,396,360 (GRCm39) |
|
probably benign |
Het |
| Inpp4a |
T |
C |
1: 37,411,410 (GRCm39) |
V358A |
possibly damaging |
Het |
| Kmt2a |
T |
C |
9: 44,731,201 (GRCm39) |
|
probably benign |
Het |
| Mrgprb13 |
A |
T |
7: 47,961,946 (GRCm39) |
|
noncoding transcript |
Het |
| Mtrex |
A |
T |
13: 113,027,819 (GRCm39) |
N680K |
probably benign |
Het |
| Nckap5 |
A |
G |
1: 125,955,439 (GRCm39) |
F371S |
probably damaging |
Het |
| Nudcd1 |
G |
A |
15: 44,251,879 (GRCm39) |
Q428* |
probably null |
Het |
| Pcdhgc5 |
C |
A |
18: 37,954,559 (GRCm39) |
P611Q |
probably damaging |
Het |
| Plekhb1 |
A |
T |
7: 100,294,793 (GRCm39) |
Y193* |
probably null |
Het |
| Prrt1 |
T |
C |
17: 34,850,931 (GRCm39) |
|
probably null |
Het |
| Ptpn12 |
G |
A |
5: 21,194,013 (GRCm39) |
T753I |
possibly damaging |
Het |
| Samsn1 |
T |
C |
16: 75,673,336 (GRCm39) |
D180G |
probably damaging |
Het |
| Sh2d2a |
T |
A |
3: 87,756,820 (GRCm39) |
|
probably benign |
Het |
| Slc12a2 |
T |
A |
18: 58,045,091 (GRCm39) |
|
probably null |
Het |
| Socs3 |
T |
A |
11: 117,858,608 (GRCm39) |
Q150L |
probably benign |
Het |
| Supt6 |
A |
G |
11: 78,124,412 (GRCm39) |
V23A |
unknown |
Het |
| Tcf12 |
T |
C |
9: 71,792,518 (GRCm39) |
Y119C |
probably damaging |
Het |
| Them5 |
A |
G |
3: 94,253,908 (GRCm39) |
E210G |
probably damaging |
Het |
| Tmem135 |
A |
G |
7: 88,845,330 (GRCm39) |
F167S |
possibly damaging |
Het |
| Tmem170 |
A |
G |
8: 112,593,032 (GRCm39) |
V134A |
possibly damaging |
Het |
| Trbv20 |
A |
G |
6: 41,165,725 (GRCm39) |
Y50C |
probably damaging |
Het |
| Uroc1 |
A |
G |
6: 90,321,179 (GRCm39) |
M252V |
probably damaging |
Het |
| Wasf1 |
G |
A |
10: 40,802,570 (GRCm39) |
R75Q |
probably damaging |
Het |
| Xpnpep3 |
T |
A |
15: 81,300,065 (GRCm39) |
|
probably benign |
Het |
| Yars1 |
C |
T |
4: 129,090,690 (GRCm39) |
T78M |
probably damaging |
Het |
| Zdhhc16 |
T |
A |
19: 41,926,572 (GRCm39) |
H98Q |
probably damaging |
Het |
| Zfp90 |
T |
C |
8: 107,150,605 (GRCm39) |
L106P |
probably benign |
Het |
| Zscan22 |
T |
G |
7: 12,637,853 (GRCm39) |
S82A |
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 |
|
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 |
|
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'- TTGCTTAGCACCAAACCCAG -3'
(R):5'- ATCAAGTCAGGGTGCCCTAG -3'
Sequencing Primer
(F):5'- ATCTATGCAGGTTTAAGGCCAGC -3'
(R):5'- TGCCCTAGGTCAGTAAGCAAGTC -3'
|
| Posted On |
2016-12-15 |
Incidental Mutation