Incidental Mutation 'R0650:Cdan1'
| ID |
62185 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cdan1
|
| Ensembl Gene |
ENSMUSG00000027284 |
| Gene Name |
codanin 1 |
| Synonyms |
1500015A01Rik, codanin-1, CDA1, CDA-I |
| MMRRC Submission |
038835-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0650 (G1)
|
| Quality Score |
199 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
120546635-120561998 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 120556526 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 633
(V633A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106329
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000110700]
[ENSMUST00000110701]
[ENSMUST00000154193]
|
| AlphaFold |
Q8CC12 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110700
AA Change: V633A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000106328
Gene: ENSMUSG00000027284
AA Change: V633A
| 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: V633A
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000106329
Gene: ENSMUSG00000027284
AA Change: V633A
| 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: ENSMUST00000129384
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136725
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148285
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150860
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152692
|
| 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 |
0.0577 |
| Coding Region Coverage |
- 1x: 99.5%
- 3x: 99.0%
- 10x: 97.8%
- 20x: 96.0%
|
| Validation Efficiency |
99% (77/78) |
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700020N15Rik |
A |
G |
X: 68,989,391 (GRCm39) |
S96G |
unknown |
Het |
| 4930447C04Rik |
T |
C |
12: 72,956,830 (GRCm39) |
D120G |
probably damaging |
Het |
| Actmap |
A |
T |
7: 26,902,072 (GRCm39) |
H233L |
probably damaging |
Het |
| Adgrg5 |
T |
A |
8: 95,660,785 (GRCm39) |
|
probably null |
Het |
| Afg3l2 |
G |
T |
18: 67,548,627 (GRCm39) |
H534Q |
possibly damaging |
Het |
| Ankar |
G |
A |
1: 72,695,380 (GRCm39) |
|
probably benign |
Het |
| Arid2 |
T |
A |
15: 96,299,930 (GRCm39) |
F1814L |
possibly damaging |
Het |
| Asb15 |
C |
T |
6: 24,566,163 (GRCm39) |
A372V |
probably damaging |
Het |
| Atg16l1 |
A |
T |
1: 87,709,421 (GRCm39) |
D403V |
possibly damaging |
Het |
| Bnc2 |
T |
C |
4: 84,211,433 (GRCm39) |
D407G |
probably benign |
Het |
| Ccdc121 |
T |
C |
5: 31,643,312 (GRCm39) |
|
probably benign |
Het |
| Cfap46 |
T |
C |
7: 139,185,571 (GRCm39) |
Y2482C |
unknown |
Het |
| Chd8 |
T |
C |
14: 52,439,761 (GRCm39) |
E964G |
probably benign |
Het |
| Cyp2s1 |
A |
G |
7: 25,508,683 (GRCm39) |
V253A |
probably damaging |
Het |
| Depdc1b |
A |
G |
13: 108,460,443 (GRCm39) |
N18D |
probably damaging |
Het |
| Fis1 |
T |
A |
5: 136,991,048 (GRCm39) |
V4E |
probably damaging |
Het |
| Gba2 |
T |
A |
4: 43,570,424 (GRCm39) |
|
probably null |
Het |
| Gm2381 |
C |
T |
7: 42,469,504 (GRCm39) |
G207R |
probably damaging |
Het |
| Gpr89 |
T |
A |
3: 96,804,640 (GRCm39) |
|
probably benign |
Het |
| Gtf2i |
A |
G |
5: 134,290,691 (GRCm39) |
|
probably benign |
Het |
| Herc2 |
T |
G |
7: 55,762,958 (GRCm39) |
S896A |
probably damaging |
Het |
| Huwe1 |
T |
C |
X: 150,659,309 (GRCm39) |
S921P |
probably damaging |
Het |
| Iqgap1 |
T |
A |
7: 80,386,143 (GRCm39) |
K936I |
probably damaging |
Het |
| Kcna4 |
T |
A |
2: 107,125,927 (GRCm39) |
Y220* |
probably null |
Het |
| Krt18 |
A |
G |
15: 101,937,920 (GRCm39) |
D139G |
possibly damaging |
Het |
| Krt87 |
T |
C |
15: 101,384,921 (GRCm39) |
N392D |
probably damaging |
Het |
| L3mbtl4 |
G |
A |
17: 69,081,286 (GRCm39) |
C558Y |
probably damaging |
Het |
| Lamc2 |
T |
A |
1: 153,019,622 (GRCm39) |
I440F |
possibly damaging |
Het |
| Lrrc28 |
T |
C |
7: 67,267,833 (GRCm39) |
N98S |
probably damaging |
Het |
| Lrrk1 |
G |
A |
7: 65,942,084 (GRCm39) |
A718V |
probably damaging |
Het |
| Mrgprx2 |
T |
C |
7: 48,132,666 (GRCm39) |
I51V |
probably damaging |
Het |
| Myt1 |
A |
T |
2: 181,424,408 (GRCm39) |
R25* |
probably null |
Het |
| Npdc1 |
C |
T |
2: 25,298,021 (GRCm39) |
T199I |
probably benign |
Het |
| Nup98 |
T |
A |
7: 101,801,660 (GRCm39) |
Y755F |
probably damaging |
Het |
| Or51q1c |
A |
G |
7: 103,652,446 (GRCm39) |
|
probably null |
Het |
| Or5p69 |
T |
A |
7: 107,966,996 (GRCm39) |
C100S |
probably damaging |
Het |
| Or5p76 |
G |
T |
7: 108,122,289 (GRCm39) |
N289K |
probably damaging |
Het |
| Or8g22 |
T |
A |
9: 38,957,996 (GRCm39) |
M240L |
probably benign |
Het |
| Osgin1 |
A |
T |
8: 120,172,211 (GRCm39) |
Y335F |
probably damaging |
Het |
| Pde10a |
A |
T |
17: 9,161,797 (GRCm39) |
I493F |
probably damaging |
Het |
| Pdgfrb |
A |
G |
18: 61,212,780 (GRCm39) |
I895V |
probably benign |
Het |
| Peg10 |
T |
TCCCCANNANNNN |
6: 4,756,475 (GRCm39) |
|
probably benign |
Het |
| Pidd1 |
A |
T |
7: 141,020,726 (GRCm39) |
L457* |
probably null |
Het |
| Pik3c2a |
A |
G |
7: 115,945,482 (GRCm39) |
|
probably benign |
Het |
| Pkd1l3 |
C |
G |
8: 110,350,281 (GRCm39) |
D375E |
possibly damaging |
Het |
| Plcg1 |
C |
T |
2: 160,595,283 (GRCm39) |
|
probably benign |
Het |
| Prr13 |
A |
C |
15: 102,370,650 (GRCm39) |
*138C |
probably null |
Het |
| Prrc2b |
T |
C |
2: 32,119,267 (GRCm39) |
|
probably benign |
Het |
| Psph |
T |
C |
5: 129,868,633 (GRCm39) |
|
probably benign |
Het |
| Ripor1 |
A |
G |
8: 106,344,746 (GRCm39) |
|
probably benign |
Het |
| Scg3 |
A |
G |
9: 75,576,617 (GRCm39) |
S253P |
probably damaging |
Het |
| Sema6a |
G |
A |
18: 47,423,112 (GRCm39) |
|
probably null |
Het |
| Sgk1 |
A |
G |
10: 21,758,556 (GRCm39) |
N7D |
probably damaging |
Het |
| Skor2 |
T |
C |
18: 76,964,255 (GRCm39) |
F940L |
probably benign |
Het |
| Slbp |
T |
C |
5: 33,802,833 (GRCm39) |
|
probably benign |
Het |
| Snrnp40 |
C |
G |
4: 130,271,836 (GRCm39) |
|
probably null |
Het |
| Susd5 |
A |
T |
9: 113,911,603 (GRCm39) |
H171L |
possibly damaging |
Het |
| Sybu |
T |
C |
15: 44,536,664 (GRCm39) |
E354G |
probably benign |
Het |
| Synpo |
T |
C |
18: 60,735,412 (GRCm39) |
N845D |
possibly damaging |
Het |
| Tdrd6 |
A |
T |
17: 43,939,050 (GRCm39) |
I666N |
probably damaging |
Het |
| Tm9sf4 |
T |
C |
2: 153,029,285 (GRCm39) |
I111T |
probably benign |
Het |
| Tnc |
T |
C |
4: 63,926,971 (GRCm39) |
T852A |
probably benign |
Het |
| Tnfrsf10b |
T |
A |
14: 70,013,625 (GRCm39) |
I185K |
probably damaging |
Het |
| Tnks1bp1 |
A |
G |
2: 84,892,974 (GRCm39) |
E305G |
possibly damaging |
Het |
| Tnrc6b |
T |
C |
15: 80,668,959 (GRCm39) |
V22A |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,598,956 (GRCm39) |
F19319Y |
probably damaging |
Het |
| Ubr5 |
T |
C |
15: 38,031,051 (GRCm39) |
|
probably benign |
Het |
| Ugt2b5 |
T |
A |
5: 87,287,627 (GRCm39) |
Q191L |
probably benign |
Het |
| Urod |
T |
C |
4: 116,848,473 (GRCm39) |
T300A |
probably benign |
Het |
| Vmn1r213 |
A |
G |
13: 23,195,564 (GRCm39) |
|
probably benign |
Het |
| Znfx1 |
G |
A |
2: 166,889,574 (GRCm39) |
Q723* |
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 |
|
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 |
|
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'- GCAAAGCCCGTATATCCAGAACAGG -3'
(R):5'- GCCCACATAGGTAATGTCATCGTCC -3'
Sequencing Primer
(F):5'- TGCCAGGGTACTAGACTAGC -3'
(R):5'- ATATGGGGCATCTCCTCTAAACG -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation