Incidental Mutation 'R8942:Cyp4a31'
| ID |
681030 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R8942 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
115420846-115436212 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 115426918 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Tryptophan
at position 173
(R173W)
|
| 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: R159W
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000030480
Gene: ENSMUSG00000028712
AA Change: R159W
| 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: R174W
PolyPhen 2
Score 0.728 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000030486
Gene: ENSMUSG00000028712
AA Change: R174W
| 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: R173W
PolyPhen 2
Score 0.872 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000117129
Gene: ENSMUSG00000028712
AA Change: R173W
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc4 |
A |
T |
14: 118,790,732 (GRCm39) |
D833E |
probably damaging |
Het |
| Adgrl3 |
A |
T |
5: 81,796,568 (GRCm39) |
I626L |
probably benign |
Het |
| AI182371 |
A |
C |
2: 34,990,622 (GRCm39) |
L25R |
probably damaging |
Het |
| Atp2b2 |
G |
T |
6: 113,790,991 (GRCm39) |
Q138K |
probably benign |
Het |
| Atp8b5 |
T |
C |
4: 43,353,658 (GRCm39) |
F491L |
probably damaging |
Het |
| Bcap29 |
T |
A |
12: 31,684,353 (GRCm39) |
M1L |
probably damaging |
Het |
| C1qtnf7 |
A |
G |
5: 43,773,583 (GRCm39) |
D294G |
probably benign |
Het |
| Ccdc170 |
C |
T |
10: 4,484,044 (GRCm39) |
A290V |
probably benign |
Het |
| Cfhr2 |
A |
T |
1: 139,741,292 (GRCm39) |
L228I |
probably benign |
Het |
| Clip4 |
T |
A |
17: 72,170,768 (GRCm39) |
V645D |
probably benign |
Het |
| Dis3l |
T |
C |
9: 64,214,875 (GRCm39) |
K898R |
probably benign |
Het |
| Efr3b |
G |
T |
12: 4,032,091 (GRCm39) |
H172Q |
possibly damaging |
Het |
| Eipr1 |
A |
T |
12: 28,917,053 (GRCm39) |
N374Y |
probably damaging |
Het |
| Exoc3l4 |
A |
T |
12: 111,392,002 (GRCm39) |
E414D |
possibly damaging |
Het |
| Exoc3l4 |
G |
T |
12: 111,392,003 (GRCm39) |
V415L |
probably benign |
Het |
| Faap100 |
G |
T |
11: 120,267,856 (GRCm39) |
H306N |
possibly damaging |
Het |
| Gapvd1 |
T |
C |
2: 34,619,134 (GRCm39) |
T80A |
probably benign |
Het |
| Gen1 |
A |
G |
12: 11,292,287 (GRCm39) |
S501P |
probably benign |
Het |
| Gm10643 |
A |
G |
8: 84,790,799 (GRCm39) |
|
probably benign |
Het |
| Hecw1 |
A |
T |
13: 14,481,395 (GRCm39) |
V445D |
probably benign |
Het |
| Hells |
CT |
C |
19: 38,942,045 (GRCm39) |
|
probably null |
Het |
| Hnrnpr |
T |
G |
4: 136,059,791 (GRCm39) |
D197E |
possibly damaging |
Het |
| Hspb1 |
G |
A |
5: 135,916,928 (GRCm39) |
V6M |
probably damaging |
Het |
| Iglon5 |
A |
G |
7: 43,126,315 (GRCm39) |
V196A |
probably benign |
Het |
| Ints2 |
T |
C |
11: 86,103,720 (GRCm39) |
T1142A |
probably benign |
Het |
| Katnip |
T |
G |
7: 125,449,975 (GRCm39) |
L1013R |
probably damaging |
Het |
| Kcnq2 |
T |
A |
2: 180,724,244 (GRCm39) |
D587V |
probably damaging |
Het |
| Lmln |
C |
T |
16: 32,901,330 (GRCm39) |
P242L |
probably damaging |
Het |
| Mapt |
G |
A |
11: 104,173,307 (GRCm39) |
|
probably null |
Het |
| Mrgpre |
T |
C |
7: 143,335,002 (GRCm39) |
Y167C |
|
Het |
| Mtx2 |
A |
T |
2: 74,699,696 (GRCm39) |
I156F |
probably benign |
Het |
| Nipbl |
A |
T |
15: 8,381,104 (GRCm39) |
S563T |
probably benign |
Het |
| Nmbr |
C |
T |
10: 14,646,197 (GRCm39) |
S357L |
probably benign |
Het |
| Or10ak14 |
A |
T |
4: 118,611,594 (GRCm39) |
I49N |
possibly damaging |
Het |
| Or4e1 |
A |
C |
14: 52,700,692 (GRCm39) |
I258S |
probably damaging |
Het |
| Or4f14 |
T |
A |
2: 111,743,207 (GRCm39) |
I23F |
probably benign |
Het |
| Or4f60 |
T |
C |
2: 111,902,802 (GRCm39) |
N42S |
probably damaging |
Het |
| Or4k15b |
A |
C |
14: 50,272,602 (GRCm39) |
L86R |
probably damaging |
Het |
| Or4p4 |
C |
T |
2: 88,483,308 (GRCm39) |
L271F |
possibly damaging |
Het |
| Pctp |
A |
G |
11: 89,875,554 (GRCm39) |
M203T |
possibly damaging |
Het |
| Pip4k2c |
A |
G |
10: 127,036,084 (GRCm39) |
V261A |
probably benign |
Het |
| Pm20d1 |
G |
T |
1: 131,739,785 (GRCm39) |
V378F |
possibly damaging |
Het |
| Ppcdc |
C |
T |
9: 57,342,265 (GRCm39) |
R19H |
probably benign |
Het |
| Pramel26 |
T |
C |
4: 143,536,861 (GRCm39) |
N490S |
probably benign |
Het |
| Sdk1 |
A |
G |
5: 142,082,598 (GRCm39) |
E1332G |
probably damaging |
Het |
| Sgce |
G |
T |
6: 4,730,027 (GRCm39) |
L66M |
probably benign |
Het |
| Sycp2l |
G |
T |
13: 41,277,522 (GRCm39) |
|
probably null |
Het |
| Tars1 |
G |
T |
15: 11,384,183 (GRCm39) |
H695N |
probably benign |
Het |
| Tdo2 |
A |
G |
3: 81,876,851 (GRCm39) |
V107A |
probably benign |
Het |
| Tmem131l |
A |
T |
3: 83,805,793 (GRCm39) |
M1550K |
possibly damaging |
Het |
| Ttf2 |
A |
C |
3: 100,869,042 (GRCm39) |
S431R |
probably benign |
Het |
| Unc80 |
A |
G |
1: 66,512,468 (GRCm39) |
D126G |
possibly damaging |
Het |
| Usp17lb |
C |
T |
7: 104,490,583 (GRCm39) |
V115I |
possibly damaging |
Het |
| Vezf1 |
A |
G |
11: 87,972,553 (GRCm39) |
T305A |
probably benign |
Het |
| Vmn1r45 |
A |
T |
6: 89,910,876 (GRCm39) |
N31K |
probably benign |
Het |
| Wdr59 |
T |
C |
8: 112,211,808 (GRCm39) |
K380E |
probably benign |
Het |
| Xylt1 |
T |
A |
7: 117,233,971 (GRCm39) |
Y499* |
probably null |
Het |
| Zfp777 |
T |
C |
6: 48,006,125 (GRCm39) |
E467G |
probably benign |
Het |
| Zkscan4 |
C |
A |
13: 21,668,680 (GRCm39) |
P406Q |
probably benign |
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 |
|
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 |
|
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'- TCACAGTGAAGTCCATATCAGTTGG -3'
Sequencing Primer
(F):5'- GAGCTCAGCTTCCCATACACTAATG -3'
(R):5'- GTGAAGTCCATATCAGTTGGTAAGAC -3'
|
| Posted On |
2021-08-31 |
Incidental Mutation