Incidental Mutation 'R6602:Cyp4a31'
ID |
525336 |
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 # |
R6602 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
115420846-115436212 bp(+) (GRCm39) |
Type of Mutation |
critical splice acceptor site |
DNA Base Change (assembly) |
A to T
at 115426904 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000117129
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030480]
[ENSMUST00000030486]
[ENSMUST00000126645]
[ENSMUST00000141033]
|
AlphaFold |
F8WGU9 |
Predicted Effect |
probably null
Transcript: ENSMUST00000030480
|
SMART Domains |
Protein: ENSMUSP00000030480 Gene: ENSMUSG00000028712
Domain | Start | End | E-Value | Type |
transmembrane domain
|
13 |
35 |
N/A |
INTRINSIC |
Pfam:p450
|
51 |
415 |
3.6e-97 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000030486
|
SMART Domains |
Protein: ENSMUSP00000030486 Gene: ENSMUSG00000028712
Domain | Start | End | E-Value | Type |
transmembrane domain
|
10 |
32 |
N/A |
INTRINSIC |
Pfam:p450
|
51 |
504 |
2.6e-134 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000126645
|
SMART Domains |
Protein: ENSMUSP00000117129 Gene: ENSMUSG00000028712
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: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.6%
|
Validation Efficiency |
100% (43/43) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310022B05Rik |
A |
G |
8: 125,365,993 (GRCm39) |
L250P |
probably damaging |
Het |
4921539E11Rik |
T |
C |
4: 103,112,769 (GRCm39) |
H12R |
probably benign |
Het |
Abca4 |
A |
C |
3: 121,932,150 (GRCm39) |
Q268P |
probably benign |
Het |
Adgrf5 |
T |
A |
17: 43,761,195 (GRCm39) |
N963K |
probably benign |
Het |
Arl10 |
A |
G |
13: 54,726,750 (GRCm39) |
D176G |
probably damaging |
Het |
Btnl1 |
T |
A |
17: 34,604,722 (GRCm39) |
M501K |
probably damaging |
Het |
Ccdc162 |
G |
T |
10: 41,491,976 (GRCm39) |
T1079K |
probably benign |
Het |
Cd163 |
T |
A |
6: 124,288,594 (GRCm39) |
W342R |
probably damaging |
Het |
Cd70 |
T |
C |
17: 57,456,562 (GRCm39) |
S14G |
probably benign |
Het |
Chil4 |
C |
A |
3: 106,117,906 (GRCm39) |
K121N |
probably benign |
Het |
Csf1r |
A |
G |
18: 61,243,497 (GRCm39) |
D171G |
possibly damaging |
Het |
Dapk1 |
A |
T |
13: 60,897,018 (GRCm39) |
I746F |
probably benign |
Het |
Erbb4 |
A |
G |
1: 68,409,662 (GRCm39) |
S192P |
probably damaging |
Het |
Exoc8 |
C |
A |
8: 125,623,150 (GRCm39) |
V406L |
probably damaging |
Het |
Fam168b |
C |
A |
1: 34,875,822 (GRCm39) |
G21V |
probably damaging |
Het |
Greb1 |
A |
T |
12: 16,759,441 (GRCm39) |
V652E |
probably benign |
Het |
Ift88 |
A |
G |
14: 57,744,716 (GRCm39) |
S745G |
probably benign |
Het |
Il18bp |
T |
C |
7: 101,665,237 (GRCm39) |
|
probably benign |
Het |
Il6st |
A |
G |
13: 112,640,947 (GRCm39) |
T908A |
probably damaging |
Het |
Klk1b11 |
A |
G |
7: 43,424,198 (GRCm39) |
S6G |
probably benign |
Het |
Mastl |
T |
C |
2: 23,022,689 (GRCm39) |
Y678C |
probably benign |
Het |
Msra |
A |
T |
14: 64,360,788 (GRCm39) |
H184Q |
probably benign |
Het |
Muc16 |
A |
C |
9: 18,520,772 (GRCm39) |
|
probably null |
Het |
Myo3a |
T |
G |
2: 22,467,799 (GRCm39) |
L351R |
probably damaging |
Het |
Npy5r |
GCTGTGAAACACTG |
GCTG |
8: 67,134,192 (GRCm39) |
|
probably null |
Het |
Or4d2 |
T |
C |
11: 87,784,478 (GRCm39) |
T91A |
probably benign |
Het |
Or7d11 |
C |
T |
9: 19,966,342 (GRCm39) |
R139Q |
probably benign |
Het |
Or7g18 |
A |
G |
9: 18,787,145 (GRCm39) |
D174G |
possibly damaging |
Het |
Pcdhb18 |
A |
T |
18: 37,623,533 (GRCm39) |
I288F |
probably damaging |
Het |
Pitpna |
T |
G |
11: 75,511,141 (GRCm39) |
V238G |
possibly damaging |
Het |
Ppfibp1 |
T |
A |
6: 146,879,719 (GRCm39) |
V81E |
possibly damaging |
Het |
Rab11fip2 |
T |
A |
19: 59,931,288 (GRCm39) |
T49S |
probably damaging |
Het |
Rsl24d1 |
T |
A |
9: 73,020,792 (GRCm39) |
I3N |
possibly damaging |
Het |
Rtn1 |
T |
C |
12: 72,266,092 (GRCm39) |
N161S |
probably damaging |
Het |
Shank1 |
A |
G |
7: 44,001,760 (GRCm39) |
I1151V |
probably benign |
Het |
Slc34a3 |
A |
G |
2: 25,119,221 (GRCm39) |
S550P |
probably damaging |
Het |
Slc4a1ap |
A |
G |
5: 31,684,985 (GRCm39) |
H207R |
probably damaging |
Het |
Sphkap |
T |
A |
1: 83,253,479 (GRCm39) |
K1423N |
possibly damaging |
Het |
Ttn |
A |
G |
2: 76,712,097 (GRCm39) |
|
probably benign |
Het |
Ubqln5 |
T |
A |
7: 103,778,696 (GRCm39) |
S43C |
probably benign |
Het |
Vps13d |
G |
A |
4: 144,830,234 (GRCm39) |
|
probably benign |
Het |
Wwp1 |
A |
T |
4: 19,641,816 (GRCm39) |
V413D |
probably damaging |
Het |
Zfp267 |
G |
T |
3: 36,219,004 (GRCm39) |
L341F |
possibly 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 |
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'- CTGAGCTCAGCTTCCCATAC -3'
(R):5'- TTGGTAAGACAAAGGCCGTG -3'
Sequencing Primer
(F):5'- TGAGCTCAGCTTCCCATACACTAATG -3'
(R):5'- GTGAAGTTCAAGGCTTGTCACTCAC -3'
|
Posted On |
2018-06-22 |