Incidental Mutation 'R2993:Cyp4a31'
| ID |
257959 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cyp4a31
|
| Ensembl Gene |
ENSMUSG00000028712 |
| Gene Name |
cytochrome P450, family 4, subfamily a, polypeptide 31 |
| Synonyms |
|
| MMRRC Submission |
040528-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.075)
|
| Stock # |
R2993 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
115420846-115436212 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 115427017 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 206
(V206I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117129
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030480]
[ENSMUST00000030486]
[ENSMUST00000126645]
[ENSMUST00000141033]
|
| AlphaFold |
F8WGU9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030480
AA Change: V192I
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000030480
Gene: ENSMUSG00000028712
AA Change: V192I
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
13 |
35 |
N/A |
INTRINSIC |
|
Pfam:p450
|
51 |
415 |
3.6e-97 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030486
AA Change: V207I
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000030486
Gene: ENSMUSG00000028712
AA Change: V207I
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
10 |
32 |
N/A |
INTRINSIC |
|
Pfam:p450
|
51 |
504 |
2.6e-134 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000126645
AA Change: V206I
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000117129
Gene: ENSMUSG00000028712
AA Change: V206I
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
10 |
32 |
N/A |
INTRINSIC |
|
Pfam:p450
|
51 |
340 |
4.3e-66 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000141033
|
| SMART Domains |
Protein: ENSMUSP00000115628
Gene: ENSMUSG00000028712
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
10 |
32 |
N/A |
INTRINSIC |
|
Pfam:p450
|
51 |
155 |
2.9e-17 |
PFAM |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
| Validation Efficiency |
100% (34/34) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700003H04Rik |
A |
G |
3: 124,372,184 (GRCm39) |
W67R |
probably damaging |
Het |
| Abca16 |
T |
C |
7: 120,134,384 (GRCm39) |
V1377A |
probably damaging |
Het |
| Adarb2 |
A |
C |
13: 8,763,752 (GRCm39) |
I550L |
probably benign |
Het |
| Afdn |
T |
C |
17: 14,111,262 (GRCm39) |
|
probably null |
Het |
| Ago1 |
G |
T |
4: 126,333,839 (GRCm39) |
|
probably benign |
Het |
| Atp4a |
G |
A |
7: 30,419,650 (GRCm39) |
R671Q |
probably benign |
Het |
| Cdc7 |
G |
A |
5: 107,121,764 (GRCm39) |
V226I |
probably benign |
Het |
| Cdh15 |
G |
A |
8: 123,588,763 (GRCm39) |
R279Q |
probably damaging |
Het |
| Ddx47 |
G |
T |
6: 134,995,944 (GRCm39) |
R120L |
probably damaging |
Het |
| Dnah7a |
G |
A |
1: 53,542,713 (GRCm39) |
L2486F |
probably damaging |
Het |
| Eif3d |
A |
G |
15: 77,845,905 (GRCm39) |
I372T |
possibly damaging |
Het |
| Eogt |
A |
T |
6: 97,095,915 (GRCm39) |
|
probably null |
Het |
| Epb42 |
G |
A |
2: 120,859,525 (GRCm39) |
|
probably benign |
Het |
| Fbxl2 |
T |
C |
9: 113,818,484 (GRCm39) |
E159G |
possibly damaging |
Het |
| Gabrb2 |
T |
C |
11: 42,488,476 (GRCm39) |
V314A |
probably damaging |
Het |
| Gpr15lg |
T |
A |
14: 36,829,402 (GRCm39) |
H27L |
probably benign |
Het |
| Gtf2h3 |
T |
C |
5: 124,721,997 (GRCm39) |
F32L |
probably benign |
Het |
| Gzmk |
A |
G |
13: 113,317,011 (GRCm39) |
I56T |
probably damaging |
Het |
| Katnbl1 |
G |
T |
2: 112,238,963 (GRCm39) |
|
probably null |
Het |
| Klhdc4 |
G |
C |
8: 122,533,320 (GRCm39) |
S118* |
probably null |
Het |
| Klrb1-ps1 |
A |
T |
6: 129,097,992 (GRCm39) |
K73N |
probably benign |
Het |
| Lrp1 |
T |
C |
10: 127,446,250 (GRCm39) |
D98G |
probably damaging |
Het |
| Lrrfip1 |
C |
A |
1: 91,032,956 (GRCm39) |
D313E |
probably damaging |
Het |
| Misp3 |
A |
G |
8: 84,738,213 (GRCm39) |
L34P |
probably damaging |
Het |
| Mmp21 |
C |
T |
7: 133,280,715 (GRCm39) |
R85H |
probably damaging |
Het |
| Mrpl16 |
A |
G |
19: 11,751,895 (GRCm39) |
I218M |
possibly damaging |
Het |
| Mtmr4 |
T |
A |
11: 87,495,823 (GRCm39) |
V553D |
probably damaging |
Het |
| Rap1gap2 |
C |
A |
11: 74,298,148 (GRCm39) |
A491S |
possibly damaging |
Het |
| Secisbp2l |
C |
T |
2: 125,582,657 (GRCm39) |
G933D |
possibly damaging |
Het |
| Spata31e2 |
A |
T |
1: 26,724,909 (GRCm39) |
D90E |
possibly damaging |
Het |
| Vmn1r224 |
T |
A |
17: 20,639,472 (GRCm39) |
S16R |
probably damaging |
Het |
| Vmn2r55 |
C |
T |
7: 12,418,882 (GRCm39) |
A13T |
probably damaging |
Het |
| Zer1 |
A |
G |
2: 29,991,909 (GRCm39) |
V637A |
probably damaging |
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 |
|
IGL02292:Cyp4a31
|
APN |
4 |
115,423,698 (GRCm39) |
missense |
probably damaging |
0.98 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGTCAACTGAACACATGTCTTC -3'
(R):5'- CCGCAGATAGAATGGACTCTG -3'
Sequencing Primer
(F):5'- GTCAACTGAACACATGTCTTCTGAGG -3'
(R):5'- GCATGAGTGACTAGGCATCTACC -3'
|
| Posted On |
2015-01-11 |
Incidental Mutation