Incidental Mutation 'R3743:Cyp4a31'
ID |
270441 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cyp4a31
|
Ensembl Gene |
ENSMUSG00000028712 |
Gene Name |
cytochrome P450, family 4, subfamily a, polypeptide 31 |
Synonyms |
|
MMRRC Submission |
040729-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.075)
|
Stock # |
R3743 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
115420846-115436212 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 115423716 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Proline
at position 140
(Q140P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000030486
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030480]
[ENSMUST00000030486]
[ENSMUST00000126645]
[ENSMUST00000141033]
|
AlphaFold |
F8WGU9 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000030480
AA Change: Q125P
PolyPhen 2
Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000030480 Gene: ENSMUSG00000028712 AA Change: Q125P
Domain | Start | End | E-Value | Type |
transmembrane domain
|
13 |
35 |
N/A |
INTRINSIC |
Pfam:p450
|
51 |
415 |
3.6e-97 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000030486
AA Change: Q140P
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000030486 Gene: ENSMUSG00000028712 AA Change: Q140P
Domain | Start | End | E-Value | Type |
transmembrane domain
|
10 |
32 |
N/A |
INTRINSIC |
Pfam:p450
|
51 |
504 |
2.6e-134 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000126645
AA Change: Q139P
PolyPhen 2
Score 0.912 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000117129 Gene: ENSMUSG00000028712 AA Change: Q139P
Domain | Start | End | E-Value | Type |
transmembrane domain
|
10 |
32 |
N/A |
INTRINSIC |
Pfam:p450
|
51 |
340 |
4.3e-66 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000141033
AA Change: Q140P
PolyPhen 2
Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000115628 Gene: ENSMUSG00000028712 AA Change: Q140P
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 |
0.6077 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
Validation Efficiency |
98% (43/44) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700013G24Rik |
A |
G |
4: 137,182,348 (GRCm39) |
R168G |
probably damaging |
Het |
1700030K09Rik |
A |
G |
8: 73,199,013 (GRCm39) |
H140R |
probably benign |
Het |
Adamts10 |
A |
G |
17: 33,747,686 (GRCm39) |
I41V |
probably damaging |
Het |
Arnt |
T |
C |
3: 95,382,016 (GRCm39) |
V198A |
possibly damaging |
Het |
Atg3 |
A |
G |
16: 44,998,591 (GRCm39) |
|
probably null |
Het |
Atmin |
T |
C |
8: 117,683,312 (GRCm39) |
V324A |
probably benign |
Het |
Ccdc88c |
G |
A |
12: 100,914,843 (GRCm39) |
R464C |
probably damaging |
Het |
Ccr7 |
G |
T |
11: 99,036,033 (GRCm39) |
S296R |
possibly damaging |
Het |
Cdh12 |
T |
A |
15: 21,537,745 (GRCm39) |
S415R |
probably damaging |
Het |
Cep162 |
A |
T |
9: 87,099,230 (GRCm39) |
|
probably benign |
Het |
Chd3 |
G |
A |
11: 69,254,876 (GRCm39) |
R61* |
probably null |
Het |
Cr2 |
A |
G |
1: 194,832,274 (GRCm39) |
|
probably benign |
Het |
Csf1r |
T |
C |
18: 61,247,846 (GRCm39) |
S305P |
probably benign |
Het |
Dhx40 |
A |
T |
11: 86,661,985 (GRCm39) |
W691R |
probably damaging |
Het |
Dlgap1 |
G |
A |
17: 71,025,221 (GRCm39) |
|
probably null |
Het |
Entr1 |
A |
G |
2: 26,278,655 (GRCm39) |
|
probably benign |
Het |
Exoc5 |
T |
C |
14: 49,251,806 (GRCm39) |
I582V |
probably benign |
Het |
Exoc5 |
A |
T |
14: 49,270,864 (GRCm39) |
L387* |
probably null |
Het |
Fbxw8 |
A |
G |
5: 118,251,704 (GRCm39) |
S270P |
probably damaging |
Het |
Fgf14 |
C |
A |
14: 124,914,032 (GRCm39) |
G33V |
probably benign |
Het |
Hoxd9 |
T |
A |
2: 74,528,710 (GRCm39) |
V104E |
probably damaging |
Het |
Igsf10 |
T |
C |
3: 59,233,546 (GRCm39) |
H1729R |
possibly damaging |
Het |
Irf8 |
C |
T |
8: 121,480,310 (GRCm39) |
R274C |
probably damaging |
Het |
Itgb4 |
G |
A |
11: 115,894,496 (GRCm39) |
M1350I |
probably damaging |
Het |
Lrrn4 |
A |
G |
2: 132,711,786 (GRCm39) |
|
probably null |
Het |
Map3k6 |
C |
T |
4: 132,972,384 (GRCm39) |
T320I |
probably benign |
Het |
Morc2a |
A |
G |
11: 3,633,700 (GRCm39) |
E604G |
possibly damaging |
Het |
Mtmr6 |
T |
C |
14: 60,537,747 (GRCm39) |
I582T |
probably benign |
Het |
Ninl |
A |
G |
2: 150,792,168 (GRCm39) |
V785A |
probably benign |
Het |
Obscn |
T |
C |
11: 58,969,911 (GRCm39) |
E77G |
probably damaging |
Het |
Or2b11 |
T |
C |
11: 59,462,335 (GRCm39) |
Y77C |
probably damaging |
Het |
Or2n1 |
T |
G |
17: 38,486,793 (GRCm39) |
F273V |
probably damaging |
Het |
Or4f61 |
A |
G |
2: 111,922,965 (GRCm39) |
L27P |
probably benign |
Het |
Pcdhb2 |
A |
G |
18: 37,429,470 (GRCm39) |
D124G |
probably damaging |
Het |
Pfkl |
G |
A |
10: 77,832,179 (GRCm39) |
T304M |
probably damaging |
Het |
Ppil4 |
T |
A |
10: 7,696,935 (GRCm39) |
S483T |
unknown |
Het |
Slc7a10 |
C |
T |
7: 34,898,325 (GRCm39) |
T332I |
probably damaging |
Het |
Spats2 |
T |
C |
15: 99,108,795 (GRCm39) |
S382P |
probably benign |
Het |
Stpg1 |
T |
A |
4: 135,242,197 (GRCm39) |
D70E |
probably benign |
Het |
Tmprss11e |
G |
A |
5: 86,857,315 (GRCm39) |
Q333* |
probably null |
Het |
Trpv1 |
A |
T |
11: 73,145,128 (GRCm39) |
D430V |
probably damaging |
Het |
Ttc23l |
G |
A |
15: 10,537,652 (GRCm39) |
S206L |
probably benign |
Het |
Ttc23l |
CT |
CTTGGATT |
15: 10,537,648 (GRCm39) |
|
probably benign |
Het |
Zc3h6 |
A |
G |
2: 128,839,712 (GRCm39) |
Y175C |
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 |
R2993:Cyp4a31
|
UTSW |
4 |
115,427,017 (GRCm39) |
missense |
probably benign |
0.03 |
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'- AACAGTTCCACTATGTCGCTCC -3'
(R):5'- CTGTGGCAGTAGTAGTAGCAG -3'
Sequencing Primer
(F):5'- TAGATCTCACTCTGTAGACCAGG -3'
(R):5'- TAGTAGTAGCAGAAGAAGCAGCTG -3'
|
Posted On |
2015-03-18 |