Incidental Mutation 'R8188:Cyp4a31'
ID |
634965 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cyp4a31
|
Ensembl Gene |
ENSMUSG00000028712 |
Gene Name |
cytochrome P450, family 4, subfamily a, polypeptide 31 |
Synonyms |
|
MMRRC Submission |
067611-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.075)
|
Stock # |
R8188 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
115420846-115436212 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 115426943 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 182
(I182T)
|
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: I167T
PolyPhen 2
Score 0.686 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000030480 Gene: ENSMUSG00000028712 AA Change: I167T
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: I182T
PolyPhen 2
Score 0.286 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000030486 Gene: ENSMUSG00000028712 AA Change: I182T
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: I181T
PolyPhen 2
Score 0.286 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000117129 Gene: ENSMUSG00000028712 AA Change: I181T
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 |
0.0846 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
Validation Efficiency |
100% (56/56) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aco1 |
C |
G |
4: 40,180,284 (GRCm39) |
A395G |
probably benign |
Het |
Adgrf5 |
G |
A |
17: 43,741,503 (GRCm39) |
C380Y |
probably damaging |
Het |
Astn2 |
T |
C |
4: 65,977,418 (GRCm39) |
T422A |
unknown |
Het |
Baz1b |
G |
T |
5: 135,233,916 (GRCm39) |
V148F |
probably benign |
Het |
Bicd1 |
A |
C |
6: 149,451,854 (GRCm39) |
S823R |
probably damaging |
Het |
Bltp3b |
C |
T |
10: 89,647,928 (GRCm39) |
T1330M |
possibly damaging |
Het |
Blvra |
A |
C |
2: 126,937,047 (GRCm39) |
S167R |
probably damaging |
Het |
Camsap2 |
G |
T |
1: 136,225,132 (GRCm39) |
|
probably null |
Het |
Card14 |
T |
C |
11: 119,228,623 (GRCm39) |
S650P |
probably damaging |
Het |
Ccdc121rt2 |
A |
G |
5: 112,597,993 (GRCm39) |
D180G |
possibly damaging |
Het |
Cdh2 |
A |
G |
18: 16,781,593 (GRCm39) |
I166T |
probably damaging |
Het |
Cdnf |
T |
C |
2: 3,514,228 (GRCm39) |
V22A |
probably benign |
Het |
Cfhr4 |
T |
A |
1: 139,625,868 (GRCm39) |
I869F |
probably damaging |
Het |
Chd2 |
T |
A |
7: 73,079,504 (GRCm39) |
K1799* |
probably null |
Het |
Col20a1 |
G |
A |
2: 180,658,126 (GRCm39) |
|
probably null |
Het |
Dap3 |
A |
T |
3: 88,843,543 (GRCm39) |
F25L |
probably benign |
Het |
Dcc |
T |
A |
18: 71,943,928 (GRCm39) |
Y241F |
probably benign |
Het |
Ddx46 |
A |
G |
13: 55,814,029 (GRCm39) |
I662V |
possibly damaging |
Het |
Dzip3 |
T |
C |
16: 48,772,499 (GRCm39) |
D390G |
probably damaging |
Het |
Eif1 |
A |
G |
11: 100,211,624 (GRCm39) |
D55G |
probably benign |
Het |
Exosc5 |
T |
A |
7: 25,358,790 (GRCm39) |
S44T |
probably damaging |
Het |
Fat2 |
A |
G |
11: 55,163,997 (GRCm39) |
V3086A |
probably damaging |
Het |
Fcamr |
T |
A |
1: 130,730,665 (GRCm39) |
|
probably null |
Het |
Gcg |
T |
C |
2: 62,309,004 (GRCm39) |
D50G |
probably damaging |
Het |
Gm7298 |
A |
G |
6: 121,763,537 (GRCm39) |
|
probably null |
Het |
Hfe |
A |
G |
13: 23,892,175 (GRCm39) |
V63A |
probably damaging |
Het |
Hoxd11 |
T |
A |
2: 74,514,298 (GRCm39) |
I276N |
probably damaging |
Het |
Htt |
T |
C |
5: 34,919,287 (GRCm39) |
S13P |
probably benign |
Het |
Il12a |
T |
A |
3: 68,598,872 (GRCm39) |
C18S |
unknown |
Het |
Itk |
G |
T |
11: 46,222,776 (GRCm39) |
Y564* |
probably null |
Het |
Lrrc46 |
A |
T |
11: 96,931,705 (GRCm39) |
L39Q |
probably damaging |
Het |
Myom3 |
T |
A |
4: 135,507,231 (GRCm39) |
L537Q |
probably damaging |
Het |
Nrap |
A |
C |
19: 56,325,010 (GRCm39) |
Y1234* |
probably null |
Het |
Or51q1 |
T |
C |
7: 103,628,743 (GRCm39) |
S121P |
probably damaging |
Het |
Or8b9 |
A |
T |
9: 37,766,407 (GRCm39) |
M98L |
probably benign |
Het |
Parn |
T |
C |
16: 13,359,020 (GRCm39) |
D574G |
probably benign |
Het |
Pbrm1 |
A |
G |
14: 30,789,773 (GRCm39) |
I807V |
probably damaging |
Het |
Pclo |
T |
A |
5: 14,725,193 (GRCm39) |
S1350R |
unknown |
Het |
Pira13 |
T |
C |
7: 3,826,126 (GRCm39) |
H289R |
unknown |
Het |
Plaa |
T |
C |
4: 94,474,586 (GRCm39) |
Q272R |
probably damaging |
Het |
Rfx6 |
T |
A |
10: 51,594,292 (GRCm39) |
I174N |
probably benign |
Het |
Ripk2 |
T |
A |
4: 16,139,218 (GRCm39) |
K226N |
probably damaging |
Het |
Scgb1b2 |
T |
C |
7: 30,990,946 (GRCm39) |
D54G |
possibly damaging |
Het |
Slc45a4 |
T |
C |
15: 73,456,383 (GRCm39) |
Y599C |
probably benign |
Het |
Slc7a13 |
T |
C |
4: 19,819,082 (GRCm39) |
V94A |
probably benign |
Het |
Slc7a8 |
A |
G |
14: 54,972,579 (GRCm39) |
F281L |
probably benign |
Het |
Slco4c1 |
T |
A |
1: 96,772,261 (GRCm39) |
T243S |
probably damaging |
Het |
Smim30 |
C |
T |
6: 13,870,541 (GRCm39) |
G57E |
probably damaging |
Het |
Stat5b |
A |
G |
11: 100,692,262 (GRCm39) |
I174T |
probably damaging |
Het |
Styk1 |
C |
A |
6: 131,281,848 (GRCm39) |
V257L |
probably benign |
Het |
Tmem268 |
T |
C |
4: 63,498,209 (GRCm39) |
F210L |
probably damaging |
Het |
Ugt2b35 |
T |
A |
5: 87,149,302 (GRCm39) |
S184R |
probably damaging |
Het |
Vps50 |
T |
A |
6: 3,562,297 (GRCm39) |
L464* |
probably null |
Het |
Zfhx2 |
A |
T |
14: 55,301,898 (GRCm39) |
S2029T |
probably benign |
Het |
Zfp235 |
T |
A |
7: 23,841,296 (GRCm39) |
F572I |
probably damaging |
Het |
Zfp280d |
T |
C |
9: 72,267,615 (GRCm39) |
I766T |
probably benign |
Het |
Zfr |
T |
G |
15: 12,171,904 (GRCm39) |
C933W |
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 |
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 |
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'- GAGCTCAGCTTCCCATACAC -3'
(R):5'- AGATGTCCCACATGCATCAC -3'
Sequencing Primer
(F):5'- GAGCTCAGCTTCCCATACACTAATG -3'
(R):5'- CACAGTGAAGTCCATATCAGTTGG -3'
|
Posted On |
2020-07-13 |