Incidental Mutation 'IGL02720:Cdadc1'
ID |
304939 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Cdadc1
|
Ensembl Gene |
ENSMUSG00000021982 |
Gene Name |
cytidine and dCMP deaminase domain containing 1 |
Synonyms |
2310010M10Rik, NYD-SP15 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.168)
|
Stock # |
IGL02720
|
Quality Score |
|
Status
|
|
Chromosome |
14 |
Chromosomal Location |
59796837-59835408 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 59823496 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 332
(Y332C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000153357
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022555]
[ENSMUST00000056997]
[ENSMUST00000167100]
[ENSMUST00000171683]
[ENSMUST00000225595]
[ENSMUST00000225839]
|
AlphaFold |
Q8BMD5 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000022555
AA Change: Y332C
PolyPhen 2
Score 0.483 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000022555 Gene: ENSMUSG00000021982 AA Change: Y332C
Domain | Start | End | E-Value | Type |
Pfam:dCMP_cyt_deam_1
|
73 |
153 |
9.2e-8 |
PFAM |
Pfam:dCMP_cyt_deam_1
|
317 |
446 |
4.2e-11 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000056997
AA Change: Y332C
PolyPhen 2
Score 0.483 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000052233 Gene: ENSMUSG00000021982 AA Change: Y332C
Domain | Start | End | E-Value | Type |
Pfam:dCMP_cyt_deam_1
|
73 |
153 |
9.8e-8 |
PFAM |
Pfam:dCMP_cyt_deam_1
|
317 |
446 |
4.6e-11 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000167100
AA Change: Y332C
PolyPhen 2
Score 0.483 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000128022 Gene: ENSMUSG00000021982 AA Change: Y332C
Domain | Start | End | E-Value | Type |
Pfam:dCMP_cyt_deam_1
|
74 |
153 |
4.9e-9 |
PFAM |
Pfam:dCMP_cyt_deam_1
|
317 |
446 |
1.1e-11 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000171683
AA Change: Y332C
PolyPhen 2
Score 0.483 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000128064 Gene: ENSMUSG00000021982 AA Change: Y332C
Domain | Start | End | E-Value | Type |
Pfam:dCMP_cyt_deam_1
|
74 |
153 |
1.4e-8 |
PFAM |
Pfam:dCMP_cyt_deam_1
|
317 |
446 |
3e-11 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225103
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000225595
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000225839
AA Change: Y332C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aass |
G |
A |
6: 23,122,702 (GRCm39) |
|
probably benign |
Het |
Adgrv1 |
A |
G |
13: 81,726,991 (GRCm39) |
S454P |
probably damaging |
Het |
Adh4 |
A |
T |
3: 138,124,981 (GRCm39) |
I51F |
possibly damaging |
Het |
Amigo2 |
A |
T |
15: 97,143,578 (GRCm39) |
C281* |
probably null |
Het |
Btn2a2 |
C |
T |
13: 23,664,637 (GRCm39) |
R307Q |
probably benign |
Het |
C2cd6 |
T |
C |
1: 59,090,307 (GRCm39) |
I483M |
probably damaging |
Het |
Capn9 |
T |
C |
8: 125,327,236 (GRCm39) |
|
probably benign |
Het |
Carmil3 |
A |
G |
14: 55,744,867 (GRCm39) |
K1279E |
probably damaging |
Het |
Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
Cep112 |
T |
G |
11: 108,750,177 (GRCm39) |
F893L |
probably damaging |
Het |
Cit |
A |
G |
5: 116,133,511 (GRCm39) |
S1867G |
probably benign |
Het |
Clptm1l |
T |
C |
13: 73,762,721 (GRCm39) |
|
probably benign |
Het |
Cyp4a12b |
A |
T |
4: 115,292,368 (GRCm39) |
|
probably benign |
Het |
Dlx3 |
G |
T |
11: 95,014,470 (GRCm39) |
W251L |
possibly damaging |
Het |
Dnah1 |
C |
T |
14: 30,984,177 (GRCm39) |
V3993M |
probably damaging |
Het |
Efs |
A |
T |
14: 55,157,172 (GRCm39) |
Y380N |
probably damaging |
Het |
Fam53c |
T |
A |
18: 34,903,720 (GRCm39) |
W331R |
probably damaging |
Het |
Gm5414 |
T |
C |
15: 101,533,990 (GRCm39) |
E331G |
probably damaging |
Het |
Gstcd |
A |
G |
3: 132,777,722 (GRCm39) |
V363A |
probably benign |
Het |
Jak1 |
A |
G |
4: 101,021,647 (GRCm39) |
|
probably benign |
Het |
Kifc3 |
A |
G |
8: 95,834,993 (GRCm39) |
V264A |
probably benign |
Het |
Mapk8ip2 |
A |
G |
15: 89,341,785 (GRCm39) |
D332G |
probably damaging |
Het |
Nbeal1 |
G |
A |
1: 60,323,146 (GRCm39) |
E2075K |
probably damaging |
Het |
Opn5 |
T |
G |
17: 42,907,517 (GRCm39) |
S120R |
probably damaging |
Het |
Or52m2 |
C |
T |
7: 102,264,046 (GRCm39) |
G50E |
probably damaging |
Het |
Paqr8 |
C |
T |
1: 21,005,733 (GRCm39) |
Q296* |
probably null |
Het |
Pcsk6 |
C |
T |
7: 65,629,995 (GRCm39) |
R374* |
probably null |
Het |
Pld1 |
A |
G |
3: 28,141,411 (GRCm39) |
H469R |
probably damaging |
Het |
Rbl1 |
A |
G |
2: 157,041,349 (GRCm39) |
S93P |
possibly damaging |
Het |
Reln |
C |
T |
5: 22,202,939 (GRCm39) |
R1287Q |
probably damaging |
Het |
Rev3l |
C |
T |
10: 39,698,391 (GRCm39) |
R963* |
probably null |
Het |
Serinc4 |
C |
T |
2: 121,282,908 (GRCm39) |
S418N |
probably benign |
Het |
Slc6a18 |
A |
G |
13: 73,818,087 (GRCm39) |
M310T |
probably benign |
Het |
Slitrk3 |
T |
A |
3: 72,958,101 (GRCm39) |
S224C |
probably damaging |
Het |
Slu7 |
T |
C |
11: 43,336,030 (GRCm39) |
I471T |
probably benign |
Het |
Stxbp5 |
A |
G |
10: 9,665,105 (GRCm39) |
|
probably null |
Het |
Tm7sf3 |
A |
T |
6: 146,514,872 (GRCm39) |
|
probably benign |
Het |
Trem1 |
C |
T |
17: 48,539,869 (GRCm39) |
S16L |
probably benign |
Het |
Trp53bp2 |
T |
A |
1: 182,281,289 (GRCm39) |
D963E |
probably benign |
Het |
Trp63 |
A |
T |
16: 25,682,491 (GRCm39) |
D184V |
probably damaging |
Het |
Ttll6 |
T |
C |
11: 96,042,899 (GRCm39) |
|
probably null |
Het |
Usp32 |
A |
G |
11: 84,897,817 (GRCm39) |
|
probably null |
Het |
Vmn2r14 |
A |
T |
5: 109,369,305 (GRCm39) |
N89K |
probably damaging |
Het |
Vmn2r76 |
T |
C |
7: 85,874,914 (GRCm39) |
R688G |
probably benign |
Het |
Vmn2r93 |
A |
T |
17: 18,525,296 (GRCm39) |
H318L |
probably damaging |
Het |
Vstm4 |
A |
G |
14: 32,585,574 (GRCm39) |
H47R |
probably damaging |
Het |
Wdr55 |
A |
G |
18: 36,896,435 (GRCm39) |
E375G |
probably benign |
Het |
Ybx2 |
T |
A |
11: 69,831,157 (GRCm39) |
S56T |
probably benign |
Het |
Ybx2 |
C |
A |
11: 69,831,158 (GRCm39) |
S251Y |
probably benign |
Het |
Zbtb3 |
T |
C |
19: 8,781,578 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Cdadc1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00163:Cdadc1
|
APN |
14 |
59,818,818 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01897:Cdadc1
|
APN |
14 |
59,829,986 (GRCm39) |
critical splice acceptor site |
probably null |
|
IGL02648:Cdadc1
|
APN |
14 |
59,823,812 (GRCm39) |
missense |
probably damaging |
1.00 |
R0254:Cdadc1
|
UTSW |
14 |
59,813,356 (GRCm39) |
splice site |
probably benign |
|
R0470:Cdadc1
|
UTSW |
14 |
59,811,290 (GRCm39) |
splice site |
probably benign |
|
R0554:Cdadc1
|
UTSW |
14 |
59,823,901 (GRCm39) |
missense |
probably damaging |
1.00 |
R1462:Cdadc1
|
UTSW |
14 |
59,813,307 (GRCm39) |
missense |
probably damaging |
1.00 |
R1462:Cdadc1
|
UTSW |
14 |
59,813,307 (GRCm39) |
missense |
probably damaging |
1.00 |
R1540:Cdadc1
|
UTSW |
14 |
59,823,541 (GRCm39) |
missense |
probably damaging |
1.00 |
R1540:Cdadc1
|
UTSW |
14 |
59,823,532 (GRCm39) |
missense |
probably damaging |
1.00 |
R1649:Cdadc1
|
UTSW |
14 |
59,811,242 (GRCm39) |
missense |
probably damaging |
1.00 |
R1900:Cdadc1
|
UTSW |
14 |
59,823,981 (GRCm39) |
missense |
probably damaging |
1.00 |
R1934:Cdadc1
|
UTSW |
14 |
59,827,309 (GRCm39) |
missense |
possibly damaging |
0.91 |
R1976:Cdadc1
|
UTSW |
14 |
59,811,217 (GRCm39) |
missense |
probably damaging |
1.00 |
R2061:Cdadc1
|
UTSW |
14 |
59,818,783 (GRCm39) |
missense |
probably damaging |
1.00 |
R2136:Cdadc1
|
UTSW |
14 |
59,805,493 (GRCm39) |
splice site |
probably null |
|
R2147:Cdadc1
|
UTSW |
14 |
59,835,202 (GRCm39) |
critical splice donor site |
probably null |
|
R2929:Cdadc1
|
UTSW |
14 |
59,835,284 (GRCm39) |
start codon destroyed |
probably null |
0.70 |
R2991:Cdadc1
|
UTSW |
14 |
59,823,521 (GRCm39) |
missense |
possibly damaging |
0.68 |
R4179:Cdadc1
|
UTSW |
14 |
59,829,935 (GRCm39) |
missense |
probably benign |
0.12 |
R4621:Cdadc1
|
UTSW |
14 |
59,824,004 (GRCm39) |
missense |
probably benign |
0.00 |
R4814:Cdadc1
|
UTSW |
14 |
59,806,440 (GRCm39) |
frame shift |
probably null |
|
R4816:Cdadc1
|
UTSW |
14 |
59,806,440 (GRCm39) |
frame shift |
probably null |
|
R4817:Cdadc1
|
UTSW |
14 |
59,806,440 (GRCm39) |
frame shift |
probably null |
|
R4872:Cdadc1
|
UTSW |
14 |
59,801,973 (GRCm39) |
missense |
probably benign |
0.04 |
R5448:Cdadc1
|
UTSW |
14 |
59,811,275 (GRCm39) |
missense |
possibly damaging |
0.94 |
R5642:Cdadc1
|
UTSW |
14 |
59,827,372 (GRCm39) |
missense |
possibly damaging |
0.95 |
R5732:Cdadc1
|
UTSW |
14 |
59,834,360 (GRCm39) |
missense |
probably damaging |
0.99 |
R6472:Cdadc1
|
UTSW |
14 |
59,823,491 (GRCm39) |
missense |
probably damaging |
0.99 |
R6501:Cdadc1
|
UTSW |
14 |
59,823,898 (GRCm39) |
missense |
probably benign |
0.00 |
R7332:Cdadc1
|
UTSW |
14 |
59,813,213 (GRCm39) |
missense |
possibly damaging |
0.63 |
R7763:Cdadc1
|
UTSW |
14 |
59,811,283 (GRCm39) |
missense |
probably damaging |
1.00 |
R8978:Cdadc1
|
UTSW |
14 |
59,813,197 (GRCm39) |
missense |
probably damaging |
1.00 |
X0064:Cdadc1
|
UTSW |
14 |
59,813,303 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2015-04-16 |