Incidental Mutation 'R1508:Cyp4a31'
| ID |
168052 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cyp4a31
|
| Ensembl Gene |
ENSMUSG00000028712 |
| Gene Name |
cytochrome P450, family 4, subfamily a, polypeptide 31 |
| Synonyms |
|
| MMRRC Submission |
040869-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.075)
|
| Stock # |
R1508 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
115420846-115436212 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 115422250 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Lysine
at position 77
(I77K)
|
| 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: I78K
PolyPhen 2
Score 0.397 (Sensitivity: 0.89; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000030480
Gene: ENSMUSG00000028712
AA Change: I78K
| 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: I78K
PolyPhen 2
Score 0.209 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000030486
Gene: ENSMUSG00000028712
AA Change: I78K
| 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: I77K
PolyPhen 2
Score 0.534 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000117129
Gene: ENSMUSG00000028712
AA Change: I77K
| 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
AA Change: I78K
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000115628
Gene: ENSMUSG00000028712
AA Change: I78K
| 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: 99.2%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agbl4 |
T |
C |
4: 111,513,595 (GRCm39) |
I447T |
probably benign |
Het |
| Albfm1 |
A |
G |
5: 90,729,780 (GRCm39) |
E401G |
probably benign |
Het |
| Alpk2 |
C |
A |
18: 65,482,376 (GRCm39) |
G544V |
probably damaging |
Het |
| Apob |
T |
C |
12: 8,061,481 (GRCm39) |
I3321T |
possibly damaging |
Het |
| Ccdc47 |
C |
T |
11: 106,093,242 (GRCm39) |
D70N |
probably damaging |
Het |
| Ceacam13 |
T |
A |
7: 17,744,996 (GRCm39) |
V22D |
possibly damaging |
Het |
| Cep76 |
A |
G |
18: 67,756,358 (GRCm39) |
M491T |
probably damaging |
Het |
| Clec4a3 |
A |
T |
6: 122,944,467 (GRCm39) |
N171I |
probably benign |
Het |
| Col20a1 |
A |
G |
2: 180,634,370 (GRCm39) |
I112V |
probably damaging |
Het |
| Col4a4 |
A |
T |
1: 82,433,557 (GRCm39) |
L1462H |
unknown |
Het |
| Cubn |
A |
G |
2: 13,431,916 (GRCm39) |
F1226L |
probably benign |
Het |
| Dcaf1 |
A |
T |
9: 106,731,376 (GRCm39) |
T618S |
probably damaging |
Het |
| Echdc3 |
A |
T |
2: 6,211,231 (GRCm39) |
S129T |
probably benign |
Het |
| Efcab3 |
T |
C |
11: 104,601,503 (GRCm39) |
V272A |
probably benign |
Het |
| Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
| Fat1 |
T |
C |
8: 45,479,899 (GRCm39) |
F2982L |
probably benign |
Het |
| Gm9476 |
A |
T |
10: 100,142,700 (GRCm39) |
|
noncoding transcript |
Het |
| Golga1 |
A |
G |
2: 38,913,261 (GRCm39) |
M542T |
probably benign |
Het |
| H2-D1 |
T |
A |
17: 35,482,844 (GRCm39) |
C125S |
probably damaging |
Het |
| Jazf1 |
G |
A |
6: 52,789,166 (GRCm39) |
H103Y |
probably damaging |
Het |
| Klhl12 |
T |
C |
1: 134,416,712 (GRCm39) |
V478A |
possibly damaging |
Het |
| Lpcat2b |
A |
T |
5: 107,581,330 (GRCm39) |
T220S |
probably damaging |
Het |
| Myocd |
C |
T |
11: 65,075,342 (GRCm39) |
C594Y |
probably damaging |
Het |
| Nf1 |
A |
G |
11: 79,331,735 (GRCm39) |
E700G |
probably damaging |
Het |
| Or52z15 |
T |
C |
7: 103,332,678 (GRCm39) |
V251A |
possibly damaging |
Het |
| Or6k2 |
T |
A |
1: 173,986,930 (GRCm39) |
M197K |
possibly damaging |
Het |
| Papln |
A |
G |
12: 83,829,690 (GRCm39) |
Q937R |
probably damaging |
Het |
| Pex14 |
T |
C |
4: 149,052,029 (GRCm39) |
R147G |
probably damaging |
Het |
| Plppr3 |
A |
T |
10: 79,703,374 (GRCm39) |
Y37N |
probably damaging |
Het |
| Polr1b |
A |
G |
2: 128,955,654 (GRCm39) |
T522A |
probably benign |
Het |
| Ppp3cb |
T |
C |
14: 20,574,492 (GRCm39) |
N201S |
probably damaging |
Het |
| Prf1 |
A |
G |
10: 61,139,329 (GRCm39) |
D429G |
probably damaging |
Het |
| Ptprn2 |
T |
C |
12: 117,148,342 (GRCm39) |
S701P |
probably damaging |
Het |
| Rp1l1 |
C |
T |
14: 64,268,341 (GRCm39) |
T1309I |
possibly damaging |
Het |
| Sipa1l1 |
T |
A |
12: 82,487,667 (GRCm39) |
M1647K |
probably damaging |
Het |
| Skint11 |
T |
C |
4: 114,088,963 (GRCm39) |
|
probably null |
Het |
| Slc8a2 |
T |
C |
7: 15,874,522 (GRCm39) |
Y257H |
probably benign |
Het |
| Slfn1 |
T |
A |
11: 83,012,181 (GRCm39) |
I99N |
probably damaging |
Het |
| Slit2 |
A |
G |
5: 48,349,591 (GRCm39) |
T282A |
probably damaging |
Het |
| Slit3 |
A |
T |
11: 35,461,448 (GRCm39) |
D228V |
probably damaging |
Het |
| Specc1l |
A |
G |
10: 75,143,072 (GRCm39) |
N1031S |
probably benign |
Het |
| Supt6 |
A |
G |
11: 78,107,029 (GRCm39) |
|
probably null |
Het |
| Tdrd1 |
G |
A |
19: 56,839,790 (GRCm39) |
E617K |
probably damaging |
Het |
| Tex15 |
C |
G |
8: 34,066,880 (GRCm39) |
F2103L |
probably damaging |
Het |
| Trim21 |
T |
A |
7: 102,208,783 (GRCm39) |
Q312L |
possibly damaging |
Het |
| Trim56 |
C |
T |
5: 137,142,791 (GRCm39) |
A242T |
probably benign |
Het |
| Usp4 |
T |
C |
9: 108,249,873 (GRCm39) |
V467A |
probably benign |
Het |
| Vmn2r65 |
T |
A |
7: 84,589,886 (GRCm39) |
I677L |
probably benign |
Het |
| Vstm4 |
T |
C |
14: 32,585,511 (GRCm39) |
V26A |
probably damaging |
Het |
| Zbtb14 |
C |
G |
17: 69,694,759 (GRCm39) |
I152M |
probably benign |
Het |
| Zfat |
T |
A |
15: 68,050,600 (GRCm39) |
K807I |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGACTCTCAAATCCAGCTCAGGAC -3'
(R):5'- GGGTCACACTCTTCCAGAATTTGACAG -3'
Sequencing Primer
(F):5'- GAGTGATAGCACACATACTTCATCG -3'
(R):5'- CTCTTCCAGAATTTGACAGGGTAAG -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation