Incidental Mutation 'R7225:Cdan1'
| ID |
562077 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cdan1
|
| Ensembl Gene |
ENSMUSG00000027284 |
| Gene Name |
codanin 1 |
| Synonyms |
1500015A01Rik, codanin-1, CDA1, CDA-I |
| MMRRC Submission |
045297-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7225 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
120546635-120561998 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 120555393 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 783
(T783A)
|
| 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: T783A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000106328
Gene: ENSMUSG00000027284
AA Change: T783A
| 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: T783A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000106329
Gene: ENSMUSG00000027284
AA Change: T783A
| 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 |
|
| Meta Mutation Damage Score |
0.0846 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
98% (62/63) |
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700001K19Rik |
T |
C |
12: 110,637,299 (GRCm39) |
|
probably benign |
Het |
| 5730480H06Rik |
T |
A |
5: 48,537,575 (GRCm39) |
|
probably null |
Het |
| Actn4 |
A |
T |
7: 28,598,124 (GRCm39) |
V492D |
probably damaging |
Het |
| Alpk2 |
T |
C |
18: 65,438,270 (GRCm39) |
E1041G |
probably benign |
Het |
| Asap1 |
G |
A |
15: 64,002,099 (GRCm39) |
T404M |
probably damaging |
Het |
| Cd22 |
C |
T |
7: 30,577,059 (GRCm39) |
A83T |
not run |
Het |
| Cdh9 |
C |
T |
15: 16,856,159 (GRCm39) |
S733F |
probably damaging |
Het |
| Cfap54 |
A |
G |
10: 92,740,236 (GRCm39) |
F2282S |
unknown |
Het |
| Chst9 |
T |
C |
18: 15,585,718 (GRCm39) |
K282E |
probably damaging |
Het |
| Clcn1 |
G |
A |
6: 42,270,396 (GRCm39) |
D232N |
probably damaging |
Het |
| Clpb |
T |
A |
7: 101,360,672 (GRCm39) |
L234Q |
probably damaging |
Het |
| Cluh |
T |
G |
11: 74,557,232 (GRCm39) |
|
probably null |
Het |
| Cnp |
C |
T |
11: 100,471,413 (GRCm39) |
Q352* |
probably null |
Het |
| Cyfip1 |
AGTGT |
AGT |
7: 55,577,937 (GRCm39) |
|
probably null |
Het |
| Dtx3 |
C |
T |
10: 127,027,358 (GRCm39) |
C272Y |
probably damaging |
Het |
| Dync2h1 |
A |
G |
9: 7,142,756 (GRCm39) |
I1156T |
probably benign |
Het |
| Epg5 |
T |
A |
18: 78,055,917 (GRCm39) |
V1697E |
probably benign |
Het |
| Exoc3l4 |
A |
G |
12: 111,390,058 (GRCm39) |
D211G |
probably benign |
Het |
| Fank1 |
A |
G |
7: 133,454,988 (GRCm39) |
K36R |
probably benign |
Het |
| Fat4 |
T |
C |
3: 39,034,325 (GRCm39) |
I2659T |
possibly damaging |
Het |
| Fer1l5 |
T |
C |
1: 36,460,033 (GRCm39) |
W1893R |
possibly damaging |
Het |
| Gorasp2 |
T |
A |
2: 70,514,391 (GRCm39) |
L256Q |
probably damaging |
Het |
| Gpc5 |
T |
G |
14: 115,789,710 (GRCm39) |
V528G |
probably damaging |
Het |
| Gria2 |
T |
A |
3: 80,709,938 (GRCm39) |
|
probably benign |
Het |
| Htatip2 |
A |
G |
7: 49,420,604 (GRCm39) |
E150G |
possibly damaging |
Het |
| Jak3 |
C |
A |
8: 72,138,155 (GRCm39) |
Q869K |
probably benign |
Het |
| Jmjd1c |
T |
C |
10: 67,061,844 (GRCm39) |
V1218A |
probably benign |
Het |
| Kcnf1 |
A |
G |
12: 17,225,694 (GRCm39) |
C176R |
possibly damaging |
Het |
| Kcnq4 |
A |
G |
4: 120,604,111 (GRCm39) |
V88A |
probably benign |
Het |
| Lmod3 |
T |
A |
6: 97,224,345 (GRCm39) |
D492V |
probably benign |
Het |
| Lurap1l |
A |
C |
4: 80,829,718 (GRCm39) |
S43R |
probably benign |
Het |
| Mamdc4 |
T |
C |
2: 25,455,558 (GRCm39) |
H890R |
possibly damaging |
Het |
| Mertk |
T |
G |
2: 128,643,482 (GRCm39) |
N960K |
possibly damaging |
Het |
| Nudt9 |
C |
A |
5: 104,212,966 (GRCm39) |
D346E |
probably benign |
Het |
| Obi1 |
T |
C |
14: 104,717,294 (GRCm39) |
T360A |
probably benign |
Het |
| Opa1 |
A |
G |
16: 29,432,857 (GRCm39) |
|
probably null |
Het |
| Or5an1 |
A |
T |
19: 12,260,831 (GRCm39) |
T140S |
probably benign |
Het |
| Oxr1 |
C |
T |
15: 41,677,004 (GRCm39) |
P187L |
not run |
Het |
| Paxbp1 |
T |
C |
16: 90,823,956 (GRCm39) |
E564G |
probably damaging |
Het |
| Pcdhb13 |
C |
T |
18: 37,577,490 (GRCm39) |
R623C |
possibly damaging |
Het |
| Pkhd1l1 |
G |
T |
15: 44,410,337 (GRCm39) |
V2615F |
probably damaging |
Het |
| Plin3 |
T |
C |
17: 56,593,541 (GRCm39) |
T58A |
possibly damaging |
Het |
| Por |
A |
G |
5: 135,761,441 (GRCm39) |
D309G |
probably benign |
Het |
| Ppp2r5e |
T |
C |
12: 75,515,353 (GRCm39) |
K261R |
probably damaging |
Het |
| Ptpn18 |
C |
T |
1: 34,511,927 (GRCm39) |
T366I |
possibly damaging |
Het |
| Ptprz1 |
G |
A |
6: 23,000,928 (GRCm39) |
G1006E |
possibly damaging |
Het |
| Rpl12 |
C |
T |
2: 32,851,909 (GRCm39) |
|
probably benign |
Het |
| Rpsa |
T |
G |
9: 119,960,222 (GRCm39) |
F262V |
probably benign |
Het |
| Sh3pxd2a |
G |
T |
19: 47,255,828 (GRCm39) |
N991K |
probably damaging |
Het |
| Shank2 |
T |
A |
7: 143,838,762 (GRCm39) |
N19K |
probably benign |
Het |
| Sik1 |
T |
C |
17: 32,073,274 (GRCm39) |
T61A |
probably benign |
Het |
| Sipa1l3 |
A |
C |
7: 29,098,853 (GRCm39) |
V472G |
probably damaging |
Het |
| Sirt6 |
A |
G |
10: 81,458,315 (GRCm39) |
S313P |
probably benign |
Het |
| Slc12a7 |
A |
G |
13: 73,912,081 (GRCm39) |
|
probably benign |
Het |
| Sox13 |
A |
T |
1: 133,314,862 (GRCm39) |
V266E |
probably benign |
Het |
| Spag9 |
T |
C |
11: 93,988,184 (GRCm39) |
C833R |
probably damaging |
Het |
| Tcof1 |
T |
C |
18: 60,961,520 (GRCm39) |
T812A |
unknown |
Het |
| Tnfsf4 |
A |
G |
1: 161,244,821 (GRCm39) |
D170G |
possibly damaging |
Het |
| Tshz3 |
A |
G |
7: 36,469,082 (GRCm39) |
N357S |
probably damaging |
Het |
| Txk |
C |
T |
5: 72,858,057 (GRCm39) |
D418N |
probably damaging |
Het |
| Ube2j2 |
A |
G |
4: 156,033,773 (GRCm39) |
|
probably null |
Het |
| Vmn2r84 |
G |
A |
10: 130,222,552 (GRCm39) |
P556L |
probably damaging |
Het |
| Zfp1007 |
T |
C |
5: 109,825,015 (GRCm39) |
H145R |
possibly damaging |
Het |
| Zfp442 |
T |
C |
2: 150,250,925 (GRCm39) |
N326D |
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 |
|
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 |
|
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'- TTACCAATGTAGGGGCAACAGG -3'
(R):5'- CAGAAGAAACTTGCTTGACCC -3'
Sequencing Primer
(F):5'- CAGGTATATAACAGCTGCTGGTCC -3'
(R):5'- AAACTTGCTTGACCCGGGAC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation