Incidental Mutation 'IGL00163:Cdadc1'
ID |
958 |
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 # |
IGL00163
|
Quality Score |
|
Status
|
|
Chromosome |
14 |
Chromosomal Location |
59796837-59835408 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 59818818 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Asparagine
at position 337
(H337N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000153357
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022555]
[ENSMUST00000056997]
[ENSMUST00000167100]
[ENSMUST00000171683]
[ENSMUST00000225595]
[ENSMUST00000225839]
|
AlphaFold |
Q8BMD5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000022555
AA Change: H337N
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000022555 Gene: ENSMUSG00000021982 AA Change: H337N
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 |
probably damaging
Transcript: ENSMUST00000056997
AA Change: H337N
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000052233 Gene: ENSMUSG00000021982 AA Change: H337N
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 |
probably damaging
Transcript: ENSMUST00000167100
AA Change: H337N
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000128022 Gene: ENSMUSG00000021982 AA Change: H337N
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 |
probably damaging
Transcript: ENSMUST00000171683
AA Change: H337N
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000128064 Gene: ENSMUSG00000021982 AA Change: H337N
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: H337N
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930553M12Rik |
G |
A |
4: 88,786,310 (GRCm39) |
Q103* |
probably null |
Het |
4933406P04Rik |
C |
A |
10: 20,186,970 (GRCm39) |
|
probably benign |
Het |
Adgrg6 |
T |
C |
10: 14,343,194 (GRCm39) |
E251G |
probably damaging |
Het |
Ago2 |
T |
C |
15: 72,998,302 (GRCm39) |
H292R |
probably benign |
Het |
Akr1c6 |
T |
C |
13: 4,498,977 (GRCm39) |
|
probably benign |
Het |
Arhgap24 |
T |
A |
5: 103,008,265 (GRCm39) |
M62K |
possibly damaging |
Het |
Bicd1 |
A |
G |
6: 149,451,888 (GRCm39) |
H834R |
possibly damaging |
Het |
Ccdc77 |
G |
T |
6: 120,306,045 (GRCm39) |
|
probably benign |
Het |
Cep192 |
A |
G |
18: 68,013,871 (GRCm39) |
T2424A |
possibly damaging |
Het |
Cep78 |
T |
C |
19: 15,946,504 (GRCm39) |
T443A |
probably benign |
Het |
Chrna1 |
T |
A |
2: 73,400,986 (GRCm39) |
E181D |
probably benign |
Het |
Dmxl1 |
G |
A |
18: 49,984,534 (GRCm39) |
D177N |
probably damaging |
Het |
Eif3h |
T |
A |
15: 51,650,195 (GRCm39) |
I330F |
probably damaging |
Het |
Fam184b |
T |
C |
5: 45,697,091 (GRCm39) |
E691G |
probably benign |
Het |
Fastkd1 |
T |
A |
2: 69,537,893 (GRCm39) |
S230C |
probably benign |
Het |
Gipc2 |
T |
C |
3: 151,843,215 (GRCm39) |
I141V |
probably damaging |
Het |
Hsd17b2 |
A |
T |
8: 118,485,410 (GRCm39) |
D291V |
probably damaging |
Het |
Itpr2 |
G |
A |
6: 146,292,334 (GRCm39) |
A420V |
possibly damaging |
Het |
Jag1 |
C |
T |
2: 136,927,952 (GRCm39) |
|
probably null |
Het |
Minar1 |
A |
T |
9: 89,473,150 (GRCm39) |
|
probably benign |
Het |
Mmp1b |
T |
A |
9: 7,387,946 (GRCm39) |
Y16F |
probably benign |
Het |
Muc4 |
G |
T |
16: 32,754,090 (GRCm38) |
R1322M |
probably benign |
Het |
Myo9b |
T |
C |
8: 71,801,379 (GRCm39) |
I1179T |
probably benign |
Het |
Nos1ap |
A |
G |
1: 170,342,175 (GRCm39) |
|
probably benign |
Het |
Npc1l1 |
A |
T |
11: 6,174,199 (GRCm39) |
V702E |
probably damaging |
Het |
Or13d1 |
G |
A |
4: 52,971,058 (GRCm39) |
V146M |
possibly damaging |
Het |
Or1j21 |
A |
G |
2: 36,684,012 (GRCm39) |
I255V |
probably benign |
Het |
Or2ag17 |
T |
A |
7: 106,389,796 (GRCm39) |
R137S |
probably benign |
Het |
Or2y10 |
A |
C |
11: 49,454,747 (GRCm39) |
|
probably benign |
Het |
Or4c31 |
A |
T |
2: 88,291,696 (GRCm39) |
Y4F |
probably benign |
Het |
Or4f7 |
A |
C |
2: 111,644,126 (GRCm39) |
|
probably benign |
Het |
Osmr |
A |
T |
15: 6,873,926 (GRCm39) |
L157* |
probably null |
Het |
Pdzph1 |
T |
C |
17: 59,281,791 (GRCm39) |
T164A |
possibly damaging |
Het |
Ptn |
T |
C |
6: 36,720,424 (GRCm39) |
K43E |
probably benign |
Het |
Rbm45 |
T |
C |
2: 76,209,051 (GRCm39) |
V340A |
probably damaging |
Het |
Rnf5 |
C |
T |
17: 34,821,083 (GRCm39) |
G83E |
probably damaging |
Het |
Scin |
G |
T |
12: 40,126,971 (GRCm39) |
Q459K |
probably benign |
Het |
Serpina5 |
C |
A |
12: 104,071,479 (GRCm39) |
A362D |
probably damaging |
Het |
Tex47 |
T |
A |
5: 7,355,468 (GRCm39) |
Y216* |
probably null |
Het |
Tll1 |
A |
T |
8: 64,469,170 (GRCm39) |
H984Q |
probably benign |
Het |
Tmem259 |
A |
G |
10: 79,815,568 (GRCm39) |
V81A |
probably benign |
Het |
Tns3 |
A |
T |
11: 8,401,066 (GRCm39) |
S1077R |
probably benign |
Het |
Trgv3 |
G |
A |
13: 19,427,381 (GRCm39) |
S88N |
probably benign |
Het |
Ttc17 |
A |
G |
2: 94,153,428 (GRCm39) |
|
probably benign |
Het |
Tubgcp2 |
T |
C |
7: 139,610,935 (GRCm39) |
T149A |
possibly damaging |
Het |
Ulk1 |
G |
A |
5: 110,935,738 (GRCm39) |
A25V |
probably damaging |
Het |
Vps13d |
T |
C |
4: 144,895,110 (GRCm39) |
E378G |
probably damaging |
Het |
Vsig10 |
A |
G |
5: 117,476,479 (GRCm39) |
N311S |
probably benign |
Het |
Zfp511 |
T |
C |
7: 139,617,429 (GRCm39) |
Y144H |
possibly damaging |
Het |
|
Other mutations in Cdadc1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
IGL02720:Cdadc1
|
APN |
14 |
59,823,496 (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 |
2011-07-12 |