Incidental Mutation 'R4298:Cyp4a10'
| ID |
323416 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cyp4a10
|
| Ensembl Gene |
ENSMUSG00000066072 |
| Gene Name |
cytochrome P450, family 4, subfamily a, polypeptide 10 |
| Synonyms |
Msp-3, Cyp4a, RP1, D4Rp1 |
| MMRRC Submission |
041086-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.055)
|
| Stock # |
R4298 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
115375484-115390846 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 115389889 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 498
(L498P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000092486
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058785]
[ENSMUST00000094886]
|
| AlphaFold |
O88833 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000058785
AA Change: L508P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000061126
Gene: ENSMUSG00000066072
AA Change: L508P
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
15 |
32 |
N/A |
INTRINSIC |
|
Pfam:p450
|
51 |
504 |
2.3e-133 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000094886
AA Change: L498P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000092486
Gene: ENSMUSG00000066072
AA Change: L498P
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
17 |
39 |
N/A |
INTRINSIC |
|
Pfam:p450
|
51 |
494 |
4.5e-129 |
PFAM |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.9%
|
| Validation Efficiency |
100% (54/54) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a null mutation display salt-sensitive hypertension, decrease sodium excretion, and decreased urine output. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc12 |
T |
C |
8: 87,258,154 (GRCm39) |
|
probably null |
Het |
| Ccser2 |
T |
A |
14: 36,612,337 (GRCm39) |
Q158L |
possibly damaging |
Het |
| Cct7 |
T |
A |
6: 85,445,155 (GRCm39) |
C469S |
probably damaging |
Het |
| Chmp7 |
A |
T |
14: 69,956,650 (GRCm39) |
|
probably null |
Het |
| Clcn4 |
C |
T |
7: 7,299,737 (GRCm39) |
D31N |
possibly damaging |
Het |
| Col9a2 |
C |
G |
4: 120,911,455 (GRCm39) |
R599G |
probably damaging |
Het |
| Ctdp1 |
A |
T |
18: 80,493,172 (GRCm39) |
V441E |
probably benign |
Het |
| Dsc3 |
A |
T |
18: 20,113,811 (GRCm39) |
N370K |
possibly damaging |
Het |
| Dusp12 |
G |
A |
1: 170,708,198 (GRCm39) |
T173M |
probably benign |
Het |
| Ebf3 |
C |
T |
7: 136,826,958 (GRCm39) |
R318Q |
possibly damaging |
Het |
| Epcam |
T |
C |
17: 87,947,962 (GRCm39) |
|
probably null |
Het |
| Erich6 |
G |
T |
3: 58,531,712 (GRCm39) |
A428D |
probably benign |
Het |
| Ext1 |
A |
T |
15: 53,208,521 (GRCm39) |
I80N |
probably benign |
Het |
| Extl1 |
T |
C |
4: 134,084,969 (GRCm39) |
E667G |
probably damaging |
Het |
| F2 |
T |
G |
2: 91,459,665 (GRCm39) |
|
probably null |
Het |
| Fbxw16 |
T |
C |
9: 109,275,625 (GRCm39) |
I135V |
probably benign |
Het |
| Glipr1l1 |
A |
T |
10: 111,898,252 (GRCm39) |
D119V |
probably benign |
Het |
| Gprc5b |
G |
A |
7: 118,583,437 (GRCm39) |
A144V |
possibly damaging |
Het |
| Lmbrd2 |
G |
A |
15: 9,165,882 (GRCm39) |
R252H |
possibly damaging |
Het |
| Lyst |
A |
G |
13: 13,809,472 (GRCm39) |
T381A |
probably damaging |
Het |
| Mcpt4 |
A |
T |
14: 56,298,444 (GRCm39) |
V97D |
possibly damaging |
Het |
| Nefh |
A |
G |
11: 4,890,066 (GRCm39) |
I851T |
probably benign |
Het |
| Nf1 |
A |
T |
11: 79,275,070 (GRCm39) |
I44F |
probably damaging |
Het |
| Nyap2 |
A |
T |
1: 81,218,811 (GRCm39) |
I278F |
probably damaging |
Het |
| Or4c52 |
A |
T |
2: 89,845,993 (GRCm39) |
T240S |
probably benign |
Het |
| Or4f7d-ps1 |
G |
T |
2: 111,674,789 (GRCm39) |
|
noncoding transcript |
Het |
| Pdcd4 |
C |
A |
19: 53,908,092 (GRCm39) |
P201Q |
probably damaging |
Het |
| Pramel16 |
A |
T |
4: 143,675,713 (GRCm39) |
L371* |
probably null |
Het |
| Prdm11 |
T |
C |
2: 92,823,728 (GRCm39) |
T179A |
probably benign |
Het |
| Qrfpr |
T |
A |
3: 36,243,703 (GRCm39) |
I133F |
probably damaging |
Het |
| Rack1 |
T |
C |
11: 48,692,453 (GRCm39) |
|
probably benign |
Het |
| Reln |
A |
C |
5: 22,125,485 (GRCm39) |
C2733G |
probably damaging |
Het |
| Rrs1 |
C |
T |
1: 9,616,448 (GRCm39) |
R234C |
possibly damaging |
Het |
| Sag |
G |
C |
1: 87,772,737 (GRCm39) |
D402H |
probably benign |
Het |
| Sbk3 |
T |
A |
7: 4,972,979 (GRCm39) |
T64S |
probably benign |
Het |
| Setx |
GTGGCT |
GT |
2: 29,044,073 (GRCm39) |
1814 |
probably null |
Het |
| Sh3gl1 |
C |
T |
17: 56,326,173 (GRCm39) |
G111D |
probably damaging |
Het |
| Spata20 |
G |
A |
11: 94,373,914 (GRCm39) |
R379W |
probably damaging |
Het |
| St3gal2 |
T |
C |
8: 111,688,991 (GRCm39) |
M177T |
probably benign |
Het |
| Stk39 |
C |
T |
2: 68,221,284 (GRCm39) |
G213D |
probably damaging |
Het |
| Szt2 |
A |
G |
4: 118,222,603 (GRCm39) |
|
probably benign |
Het |
| Taf1d |
T |
C |
9: 15,219,939 (GRCm39) |
S63P |
probably damaging |
Het |
| Tnfrsf13b |
C |
G |
11: 61,031,643 (GRCm39) |
|
probably null |
Het |
| Ttn |
G |
T |
2: 76,554,394 (GRCm39) |
A30807D |
probably damaging |
Het |
| Unc119 |
A |
G |
11: 78,238,948 (GRCm39) |
N158S |
probably damaging |
Het |
| Vmn2r116 |
T |
A |
17: 23,620,801 (GRCm39) |
I845N |
possibly damaging |
Het |
| Vmn2r12 |
C |
A |
5: 109,239,830 (GRCm39) |
M244I |
probably benign |
Het |
| Zdhhc4 |
A |
G |
5: 143,309,997 (GRCm39) |
V87A |
probably damaging |
Het |
| Zwilch |
A |
G |
9: 64,062,444 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Cyp4a10 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00774:Cyp4a10
|
APN |
4 |
115,389,735 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01301:Cyp4a10
|
APN |
4 |
115,375,652 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02081:Cyp4a10
|
APN |
4 |
115,378,369 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
IGL02373:Cyp4a10
|
APN |
4 |
115,378,274 (GRCm39) |
nonsense |
probably null |
|
|
IGL03411:Cyp4a10
|
APN |
4 |
115,382,890 (GRCm39) |
splice site |
probably null |
|
|
ANU18:Cyp4a10
|
UTSW |
4 |
115,375,652 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4142001:Cyp4a10
|
UTSW |
4 |
115,382,072 (GRCm39) |
missense |
probably damaging |
0.99 |
|
PIT4151001:Cyp4a10
|
UTSW |
4 |
115,382,072 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0016:Cyp4a10
|
UTSW |
4 |
115,378,304 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0368:Cyp4a10
|
UTSW |
4 |
115,382,574 (GRCm39) |
nonsense |
probably null |
|
|
R1319:Cyp4a10
|
UTSW |
4 |
115,378,342 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1440:Cyp4a10
|
UTSW |
4 |
115,386,646 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1531:Cyp4a10
|
UTSW |
4 |
115,375,632 (GRCm39) |
nonsense |
probably null |
|
|
R2008:Cyp4a10
|
UTSW |
4 |
115,382,589 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2064:Cyp4a10
|
UTSW |
4 |
115,381,917 (GRCm39) |
splice site |
probably benign |
|
|
R2083:Cyp4a10
|
UTSW |
4 |
115,382,505 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R2961:Cyp4a10
|
UTSW |
4 |
115,377,467 (GRCm39) |
missense |
probably benign |
0.02 |
|
R3028:Cyp4a10
|
UTSW |
4 |
115,375,628 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R3839:Cyp4a10
|
UTSW |
4 |
115,382,544 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R3930:Cyp4a10
|
UTSW |
4 |
115,381,980 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4062:Cyp4a10
|
UTSW |
4 |
115,376,898 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4097:Cyp4a10
|
UTSW |
4 |
115,386,480 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4482:Cyp4a10
|
UTSW |
4 |
115,389,795 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4592:Cyp4a10
|
UTSW |
4 |
115,386,690 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4715:Cyp4a10
|
UTSW |
4 |
115,382,535 (GRCm39) |
missense |
probably benign |
0.44 |
|
R4826:Cyp4a10
|
UTSW |
4 |
115,375,541 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4834:Cyp4a10
|
UTSW |
4 |
115,383,005 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4922:Cyp4a10
|
UTSW |
4 |
115,378,291 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5202:Cyp4a10
|
UTSW |
4 |
115,389,812 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5502:Cyp4a10
|
UTSW |
4 |
115,382,702 (GRCm39) |
missense |
probably benign |
0.21 |
|
R6269:Cyp4a10
|
UTSW |
4 |
115,381,509 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6349:Cyp4a10
|
UTSW |
4 |
115,382,555 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7684:Cyp4a10
|
UTSW |
4 |
115,375,549 (GRCm39) |
missense |
probably benign |
0.18 |
|
R7863:Cyp4a10
|
UTSW |
4 |
115,375,622 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8392:Cyp4a10
|
UTSW |
4 |
115,386,675 (GRCm39) |
nonsense |
probably null |
|
|
R8445:Cyp4a10
|
UTSW |
4 |
115,382,791 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8744:Cyp4a10
|
UTSW |
4 |
115,386,667 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9264:Cyp4a10
|
UTSW |
4 |
115,381,475 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9297:Cyp4a10
|
UTSW |
4 |
115,378,375 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9299:Cyp4a10
|
UTSW |
4 |
115,376,947 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9393:Cyp4a10
|
UTSW |
4 |
115,382,566 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Cyp4a10
|
UTSW |
4 |
115,375,523 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCCTTTCTGACCCAGGAAC -3'
(R):5'- CAGTCAGATGTGGGTAGCAG -3'
Sequencing Primer
(F):5'- AGGAACTGCATTGGGAAACAATTTG -3'
(R):5'- AATCTAGAGCAAGGTGTGTGTG -3'
|
| Posted On |
2015-06-20 |
Incidental Mutation