Incidental Mutation 'IGL02292:Cyp4a31'
ID |
290064 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Cyp4a31
|
Ensembl Gene |
ENSMUSG00000028712 |
Gene Name |
cytochrome P450, family 4, subfamily a, polypeptide 31 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.075)
|
Stock # |
IGL02292
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
115420846-115436212 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 115423698 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Isoleucine
at position 133
(N133I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000117129
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030480]
[ENSMUST00000030486]
[ENSMUST00000126645]
[ENSMUST00000141033]
|
AlphaFold |
F8WGU9 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000030480
AA Change: N119I
PolyPhen 2
Score 0.867 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000030480 Gene: ENSMUSG00000028712 AA Change: N119I
Domain | Start | End | E-Value | Type |
transmembrane domain
|
13 |
35 |
N/A |
INTRINSIC |
Pfam:p450
|
51 |
415 |
3.6e-97 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000030486
AA Change: N134I
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000030486 Gene: ENSMUSG00000028712 AA Change: N134I
Domain | Start | End | E-Value | Type |
transmembrane domain
|
10 |
32 |
N/A |
INTRINSIC |
Pfam:p450
|
51 |
504 |
2.6e-134 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000126645
AA Change: N133I
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000117129 Gene: ENSMUSG00000028712 AA Change: N133I
Domain | Start | End | E-Value | Type |
transmembrane domain
|
10 |
32 |
N/A |
INTRINSIC |
Pfam:p450
|
51 |
340 |
4.3e-66 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000141033
AA Change: N134I
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000115628 Gene: ENSMUSG00000028712 AA Change: N134I
Domain | Start | End | E-Value | Type |
transmembrane domain
|
10 |
32 |
N/A |
INTRINSIC |
Pfam:p450
|
51 |
155 |
2.9e-17 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310022A10Rik |
A |
G |
7: 27,263,982 (GRCm39) |
M51V |
probably benign |
Het |
Abcb5 |
C |
T |
12: 118,881,932 (GRCm39) |
G599D |
probably damaging |
Het |
Aim2 |
T |
A |
1: 173,289,840 (GRCm39) |
I261N |
probably benign |
Het |
Alpk3 |
A |
G |
7: 80,727,653 (GRCm39) |
H261R |
possibly damaging |
Het |
Ankrd12 |
G |
A |
17: 66,349,582 (GRCm39) |
H84Y |
probably damaging |
Het |
Ankrd17 |
T |
C |
5: 90,400,718 (GRCm39) |
|
probably benign |
Het |
Apc2 |
C |
T |
10: 80,138,258 (GRCm39) |
P139S |
possibly damaging |
Het |
Cct7 |
A |
G |
6: 85,438,091 (GRCm39) |
Y111C |
probably benign |
Het |
Cd226 |
G |
A |
18: 89,225,216 (GRCm39) |
V38I |
possibly damaging |
Het |
Cdh3 |
A |
G |
8: 107,271,833 (GRCm39) |
Y582C |
probably damaging |
Het |
Csmd1 |
T |
C |
8: 16,261,884 (GRCm39) |
D871G |
probably damaging |
Het |
Fem1b |
T |
C |
9: 62,703,977 (GRCm39) |
I428V |
probably benign |
Het |
Fhdc1 |
G |
A |
3: 84,352,042 (GRCm39) |
A1061V |
possibly damaging |
Het |
Flrt3 |
G |
A |
2: 140,502,045 (GRCm39) |
P528S |
probably damaging |
Het |
Gm9476 |
A |
C |
10: 100,143,046 (GRCm39) |
|
noncoding transcript |
Het |
Itgae |
T |
C |
11: 73,009,361 (GRCm39) |
I515T |
probably damaging |
Het |
Itih1 |
T |
A |
14: 30,655,312 (GRCm39) |
|
probably null |
Het |
Map3k4 |
A |
G |
17: 12,454,045 (GRCm39) |
V1419A |
possibly damaging |
Het |
Mfsd6l |
A |
T |
11: 68,448,576 (GRCm39) |
I476L |
probably benign |
Het |
Mrpl2 |
T |
C |
17: 46,959,157 (GRCm39) |
|
probably benign |
Het |
Mrpl37 |
A |
G |
4: 106,917,729 (GRCm39) |
L314P |
probably damaging |
Het |
Msto1 |
C |
A |
3: 88,819,131 (GRCm39) |
R205S |
probably benign |
Het |
Myh9 |
A |
T |
15: 77,692,196 (GRCm39) |
I121N |
probably damaging |
Het |
Omt2a |
G |
A |
9: 78,220,621 (GRCm39) |
R20C |
possibly damaging |
Het |
Or4c11b |
G |
A |
2: 88,625,631 (GRCm39) |
V302I |
probably benign |
Het |
Pdpr |
G |
A |
8: 111,852,312 (GRCm39) |
V560I |
probably damaging |
Het |
Rimkla |
A |
T |
4: 119,325,549 (GRCm39) |
C287S |
probably damaging |
Het |
Shcbp1l |
T |
A |
1: 153,311,891 (GRCm39) |
|
probably benign |
Het |
Tm7sf2 |
T |
A |
19: 6,113,598 (GRCm39) |
K111I |
probably damaging |
Het |
Tnfrsf21 |
A |
G |
17: 43,350,802 (GRCm39) |
E322G |
probably benign |
Het |
Ttn |
A |
G |
2: 76,711,543 (GRCm39) |
|
probably benign |
Het |
Zbtb20 |
T |
A |
16: 43,431,011 (GRCm39) |
Y507* |
probably null |
Het |
|
Other mutations in Cyp4a31 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00429:Cyp4a31
|
APN |
4 |
115,432,171 (GRCm39) |
unclassified |
probably benign |
|
IGL01682:Cyp4a31
|
APN |
4 |
115,435,228 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL02112:Cyp4a31
|
APN |
4 |
115,428,180 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02343:Cyp4a31
|
APN |
4 |
115,421,026 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02508:Cyp4a31
|
APN |
4 |
115,428,261 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03094:Cyp4a31
|
APN |
4 |
115,435,305 (GRCm39) |
utr 3 prime |
probably benign |
|
IGL03493:Cyp4a31
|
APN |
4 |
115,427,952 (GRCm39) |
splice site |
probably null |
|
R0400:Cyp4a31
|
UTSW |
4 |
115,420,915 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
R1263:Cyp4a31
|
UTSW |
4 |
115,431,908 (GRCm39) |
missense |
probably benign |
0.01 |
R1508:Cyp4a31
|
UTSW |
4 |
115,422,250 (GRCm39) |
missense |
possibly damaging |
0.53 |
R1523:Cyp4a31
|
UTSW |
4 |
115,426,951 (GRCm39) |
missense |
probably benign |
0.23 |
R1822:Cyp4a31
|
UTSW |
4 |
115,423,810 (GRCm39) |
splice site |
probably null |
|
R1832:Cyp4a31
|
UTSW |
4 |
115,426,928 (GRCm39) |
missense |
probably benign |
|
R1872:Cyp4a31
|
UTSW |
4 |
115,431,933 (GRCm39) |
missense |
probably damaging |
0.99 |
R2351:Cyp4a31
|
UTSW |
4 |
115,428,510 (GRCm39) |
missense |
possibly damaging |
0.95 |
R2426:Cyp4a31
|
UTSW |
4 |
115,428,213 (GRCm39) |
missense |
probably damaging |
0.98 |
R2993:Cyp4a31
|
UTSW |
4 |
115,427,017 (GRCm39) |
missense |
probably benign |
0.03 |
R3743:Cyp4a31
|
UTSW |
4 |
115,423,716 (GRCm39) |
missense |
possibly damaging |
0.95 |
R3812:Cyp4a31
|
UTSW |
4 |
115,423,706 (GRCm39) |
missense |
probably benign |
|
R3963:Cyp4a31
|
UTSW |
4 |
115,431,969 (GRCm39) |
unclassified |
probably benign |
|
R4211:Cyp4a31
|
UTSW |
4 |
115,422,210 (GRCm39) |
missense |
probably benign |
0.01 |
R4814:Cyp4a31
|
UTSW |
4 |
115,427,466 (GRCm39) |
missense |
probably damaging |
1.00 |
R6245:Cyp4a31
|
UTSW |
4 |
115,428,545 (GRCm39) |
missense |
possibly damaging |
0.91 |
R6255:Cyp4a31
|
UTSW |
4 |
115,432,117 (GRCm39) |
missense |
possibly damaging |
0.82 |
R6330:Cyp4a31
|
UTSW |
4 |
115,421,074 (GRCm39) |
missense |
probably damaging |
0.99 |
R6433:Cyp4a31
|
UTSW |
4 |
115,427,466 (GRCm39) |
missense |
probably damaging |
1.00 |
R6602:Cyp4a31
|
UTSW |
4 |
115,426,904 (GRCm39) |
critical splice acceptor site |
probably null |
|
R6844:Cyp4a31
|
UTSW |
4 |
115,420,989 (GRCm39) |
missense |
probably null |
0.00 |
R7154:Cyp4a31
|
UTSW |
4 |
115,431,963 (GRCm39) |
critical splice donor site |
probably null |
|
R7300:Cyp4a31
|
UTSW |
4 |
115,427,468 (GRCm39) |
missense |
probably benign |
0.03 |
R8188:Cyp4a31
|
UTSW |
4 |
115,426,943 (GRCm39) |
missense |
probably benign |
0.29 |
R8557:Cyp4a31
|
UTSW |
4 |
115,427,438 (GRCm39) |
missense |
possibly damaging |
0.93 |
R8692:Cyp4a31
|
UTSW |
4 |
115,423,769 (GRCm39) |
missense |
probably damaging |
0.98 |
R8696:Cyp4a31
|
UTSW |
4 |
115,422,225 (GRCm39) |
missense |
probably benign |
0.43 |
R8728:Cyp4a31
|
UTSW |
4 |
115,422,225 (GRCm39) |
missense |
probably benign |
0.43 |
R8753:Cyp4a31
|
UTSW |
4 |
115,432,158 (GRCm39) |
missense |
probably benign |
0.37 |
R8822:Cyp4a31
|
UTSW |
4 |
115,422,225 (GRCm39) |
missense |
probably benign |
0.43 |
R8942:Cyp4a31
|
UTSW |
4 |
115,426,918 (GRCm39) |
missense |
possibly damaging |
0.87 |
R9230:Cyp4a31
|
UTSW |
4 |
115,428,281 (GRCm39) |
nonsense |
probably null |
|
R9672:Cyp4a31
|
UTSW |
4 |
115,427,422 (GRCm39) |
missense |
probably benign |
0.05 |
X0020:Cyp4a31
|
UTSW |
4 |
115,422,306 (GRCm39) |
missense |
probably benign |
0.06 |
X0021:Cyp4a31
|
UTSW |
4 |
115,435,158 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2015-04-16 |