Incidental Mutation 'R7065:Cdan1'
| ID |
548501 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cdan1
|
| Ensembl Gene |
ENSMUSG00000027284 |
| Gene Name |
codanin 1 |
| Synonyms |
1500015A01Rik, codanin-1, CDA1, CDA-I |
| MMRRC Submission |
045161-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7065 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
120546635-120561998 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 120549402 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 1201
(S1201P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106329
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000110700]
[ENSMUST00000110701]
[ENSMUST00000140843]
[ENSMUST00000154193]
[ENSMUST00000180041]
|
| AlphaFold |
Q8CC12 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000070420
|
| SMART Domains |
Protein: ENSMUSP00000070111
Gene: ENSMUSG00000033705
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
97 |
138 |
N/A |
INTRINSIC |
|
low complexity region
|
142 |
151 |
N/A |
INTRINSIC |
|
low complexity region
|
157 |
174 |
N/A |
INTRINSIC |
|
low complexity region
|
234 |
255 |
N/A |
INTRINSIC |
|
Pfam:START
|
274 |
469 |
3.2e-7 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110700
AA Change: S1194P
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000106328
Gene: ENSMUSG00000027284
AA Change: S1194P
| 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: S1201P
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000106329
Gene: ENSMUSG00000027284
AA Change: S1201P
| 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: ENSMUST00000140843
|
| SMART Domains |
Protein: ENSMUSP00000117178
Gene: ENSMUSG00000033705
| Domain | Start | End | E-Value | Type |
|---|
|
FHA
|
63 |
115 |
2.8e-4 |
SMART |
|
coiled coil region
|
334 |
354 |
N/A |
INTRINSIC |
|
low complexity region
|
573 |
584 |
N/A |
INTRINSIC |
|
low complexity region
|
866 |
871 |
N/A |
INTRINSIC |
|
low complexity region
|
1023 |
1035 |
N/A |
INTRINSIC |
|
low complexity region
|
1234 |
1248 |
N/A |
INTRINSIC |
|
low complexity region
|
1765 |
1775 |
N/A |
INTRINSIC |
|
low complexity region
|
2546 |
2559 |
N/A |
INTRINSIC |
|
low complexity region
|
2953 |
2963 |
N/A |
INTRINSIC |
|
low complexity region
|
3269 |
3281 |
N/A |
INTRINSIC |
|
low complexity region
|
3421 |
3435 |
N/A |
INTRINSIC |
|
coiled coil region
|
3767 |
3808 |
N/A |
INTRINSIC |
|
low complexity region
|
3812 |
3821 |
N/A |
INTRINSIC |
|
low complexity region
|
3827 |
3844 |
N/A |
INTRINSIC |
|
low complexity region
|
3904 |
3925 |
N/A |
INTRINSIC |
|
SCOP:d1jssa_
|
3946 |
4142 |
1e-28 |
SMART |
|
Blast:START
|
3947 |
4143 |
1e-10 |
BLAST |
|
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000180041
|
| SMART Domains |
Protein: ENSMUSP00000136055
Gene: ENSMUSG00000033705
| Domain | Start | End | E-Value | Type |
|---|
|
KISc
|
1 |
392 |
3.31e-143 |
SMART |
|
low complexity region
|
398 |
409 |
N/A |
INTRINSIC |
|
FHA
|
481 |
533 |
2.8e-4 |
SMART |
|
coiled coil region
|
752 |
772 |
N/A |
INTRINSIC |
|
low complexity region
|
991 |
1002 |
N/A |
INTRINSIC |
|
low complexity region
|
1284 |
1289 |
N/A |
INTRINSIC |
|
low complexity region
|
1441 |
1453 |
N/A |
INTRINSIC |
|
low complexity region
|
1652 |
1666 |
N/A |
INTRINSIC |
|
low complexity region
|
2183 |
2193 |
N/A |
INTRINSIC |
|
low complexity region
|
2964 |
2977 |
N/A |
INTRINSIC |
|
low complexity region
|
3371 |
3381 |
N/A |
INTRINSIC |
|
low complexity region
|
3687 |
3699 |
N/A |
INTRINSIC |
|
low complexity region
|
3839 |
3853 |
N/A |
INTRINSIC |
|
coiled coil region
|
4185 |
4226 |
N/A |
INTRINSIC |
|
low complexity region
|
4230 |
4239 |
N/A |
INTRINSIC |
|
low complexity region
|
4245 |
4262 |
N/A |
INTRINSIC |
|
low complexity region
|
4322 |
4343 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (62/62) |
| 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 |
|---|
| Abca1 |
G |
T |
4: 53,074,233 (GRCm39) |
S1150Y |
probably damaging |
Het |
| Abca13 |
T |
A |
11: 9,242,595 (GRCm39) |
V1486E |
probably benign |
Het |
| Abca17 |
T |
A |
17: 24,546,725 (GRCm39) |
Y292F |
probably damaging |
Het |
| Adam3 |
A |
G |
8: 25,201,691 (GRCm39) |
|
probably null |
Het |
| Ankmy2 |
G |
A |
12: 36,237,707 (GRCm39) |
E269K |
probably damaging |
Het |
| Cep57 |
T |
C |
9: 13,729,677 (GRCm39) |
Y122C |
probably damaging |
Het |
| Cfh |
T |
A |
1: 140,014,140 (GRCm39) |
Y1210F |
probably damaging |
Het |
| Cflar |
T |
G |
1: 58,770,368 (GRCm39) |
L154V |
probably damaging |
Het |
| Chmp4b |
A |
G |
2: 154,533,162 (GRCm39) |
D134G |
probably damaging |
Het |
| Clec14a |
A |
G |
12: 58,315,580 (GRCm39) |
F14S |
possibly damaging |
Het |
| Ctnna1 |
A |
T |
18: 35,285,669 (GRCm39) |
H5L |
probably benign |
Het |
| Cyp2e1 |
T |
A |
7: 140,343,906 (GRCm39) |
L48Q |
probably damaging |
Het |
| Dnah6 |
T |
G |
6: 73,064,545 (GRCm39) |
Q2627P |
possibly damaging |
Het |
| Ehmt1 |
T |
C |
2: 24,730,709 (GRCm39) |
D569G |
probably damaging |
Het |
| Frmd4a |
G |
A |
2: 4,570,923 (GRCm39) |
|
|
Het |
| Fryl |
T |
C |
5: 73,248,099 (GRCm39) |
D1006G |
probably damaging |
Het |
| Gclm |
A |
G |
3: 122,056,320 (GRCm39) |
N137D |
probably benign |
Het |
| Gk5 |
A |
G |
9: 96,061,109 (GRCm39) |
Y531C |
probably damaging |
Het |
| Gpm6a |
C |
A |
8: 55,490,493 (GRCm39) |
N56K |
probably benign |
Het |
| Grik4 |
A |
C |
9: 42,455,127 (GRCm39) |
V656G |
probably damaging |
Het |
| Grip2 |
C |
A |
6: 91,760,550 (GRCm39) |
|
probably null |
Het |
| Gucy2c |
T |
C |
6: 136,697,764 (GRCm39) |
K636E |
probably damaging |
Het |
| Ifi44l |
A |
G |
3: 151,465,429 (GRCm39) |
I107T |
|
Het |
| Kif1b |
T |
C |
4: 149,286,982 (GRCm39) |
T1237A |
possibly damaging |
Het |
| Klk1b11 |
A |
G |
7: 43,648,386 (GRCm39) |
D131G |
probably benign |
Het |
| Lipe |
A |
G |
7: 25,084,603 (GRCm39) |
|
probably null |
Het |
| Lrp4 |
A |
G |
2: 91,341,925 (GRCm39) |
D1846G |
probably damaging |
Het |
| Madd |
A |
T |
2: 90,985,402 (GRCm39) |
M1273K |
probably benign |
Het |
| Matn3 |
T |
A |
12: 9,002,472 (GRCm39) |
M228K |
probably damaging |
Het |
| Mterf4 |
T |
A |
1: 93,232,617 (GRCm39) |
H78L |
probably benign |
Het |
| Ncoa4 |
T |
A |
14: 31,894,857 (GRCm39) |
L128* |
probably null |
Het |
| Nedd4l |
A |
G |
18: 65,329,040 (GRCm39) |
N627S |
probably benign |
Het |
| Niban1 |
A |
G |
1: 151,575,858 (GRCm39) |
|
probably null |
Het |
| Nphp3 |
A |
G |
9: 103,919,189 (GRCm39) |
Y1279C |
probably damaging |
Het |
| Nrp1 |
C |
A |
8: 129,187,193 (GRCm39) |
T413N |
probably benign |
Het |
| Opn4 |
C |
A |
14: 34,317,834 (GRCm39) |
A267S |
probably benign |
Het |
| Or4c11c |
A |
T |
2: 88,661,730 (GRCm39) |
I90F |
probably damaging |
Het |
| Or5ak24 |
A |
G |
2: 85,260,523 (GRCm39) |
Y217H |
probably damaging |
Het |
| Or5al6 |
A |
C |
2: 85,976,345 (GRCm39) |
H244Q |
probably damaging |
Het |
| Or5p78 |
G |
A |
7: 108,212,266 (GRCm39) |
V251I |
probably damaging |
Het |
| Pax3 |
T |
C |
1: 78,170,648 (GRCm39) |
|
probably null |
Het |
| Pcdha12 |
A |
G |
18: 37,154,679 (GRCm39) |
E466G |
probably damaging |
Het |
| Pdzk1 |
A |
G |
3: 96,775,748 (GRCm39) |
E372G |
probably benign |
Het |
| Pigs |
T |
A |
11: 78,227,565 (GRCm39) |
V243D |
possibly damaging |
Het |
| Pla2g5 |
C |
A |
4: 138,527,915 (GRCm39) |
C117F |
probably damaging |
Het |
| Ppt2 |
A |
G |
17: 34,841,829 (GRCm39) |
S236P |
probably damaging |
Het |
| Raver1 |
T |
C |
9: 21,001,590 (GRCm39) |
D81G |
probably benign |
Het |
| Rpgrip1 |
T |
C |
14: 52,378,650 (GRCm39) |
L525P |
possibly damaging |
Het |
| Ryr1 |
T |
C |
7: 28,803,068 (GRCm39) |
E662G |
probably damaging |
Het |
| Scaf8 |
G |
A |
17: 3,209,486 (GRCm39) |
V66M |
probably damaging |
Het |
| Scn3a |
A |
C |
2: 65,295,199 (GRCm39) |
L1508R |
probably benign |
Het |
| Semp2l2b |
T |
C |
10: 21,943,197 (GRCm39) |
D261G |
probably benign |
Het |
| Slfn8 |
T |
C |
11: 82,907,794 (GRCm39) |
R250G |
probably benign |
Het |
| Speer4d |
A |
C |
5: 15,825,421 (GRCm39) |
T49P |
probably damaging |
Het |
| Spice1 |
T |
A |
16: 44,175,898 (GRCm39) |
D32E |
probably damaging |
Het |
| Stt3b |
A |
G |
9: 115,095,224 (GRCm39) |
L269P |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,628,456 (GRCm39) |
I14568T |
possibly damaging |
Het |
| U2surp |
T |
C |
9: 95,367,712 (GRCm39) |
T413A |
probably benign |
Het |
| Ubr3 |
A |
G |
2: 69,784,049 (GRCm39) |
E755G |
probably damaging |
Het |
| Unc5a |
A |
T |
13: 55,138,896 (GRCm39) |
S92C |
probably damaging |
Het |
| Zfat |
T |
C |
15: 68,052,969 (GRCm39) |
Y275C |
probably damaging |
Het |
| Zfp874a |
A |
T |
13: 67,590,401 (GRCm39) |
S428T |
probably damaging |
Het |
| Zfy1 |
A |
G |
Y: 725,428 (GRCm39) |
V779A |
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 |
|
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'- CCTTCACTTAGGAGCAGCAAG -3'
(R):5'- AAACCTTAGTTTACCAGTCATGGAG -3'
Sequencing Primer
(F):5'- GGTTACACACCTGGACACTCTTG -3'
(R):5'- CAGTCATGGAGATTTGTATCTGC -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation