Incidental Mutation 'R4062:Cyp4a10'
| ID |
315900 |
| 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 |
040971-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.055)
|
| Stock # |
R4062 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
115375484-115390846 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 115376898 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Serine
at position 87
(R87S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000092486
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058785]
[ENSMUST00000094886]
|
| AlphaFold |
O88833 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000058785
AA Change: R87S
PolyPhen 2
Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000061126
Gene: ENSMUSG00000066072
AA Change: R87S
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
15 |
32 |
N/A |
INTRINSIC |
|
Pfam:p450
|
51 |
504 |
2.3e-133 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000094886
AA Change: R87S
PolyPhen 2
Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000092486
Gene: ENSMUSG00000066072
AA Change: R87S
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
17 |
39 |
N/A |
INTRINSIC |
|
Pfam:p450
|
51 |
494 |
4.5e-129 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.8%
|
| Validation Efficiency |
|
| 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 |
|---|
| 1700019A02Rik |
A |
T |
1: 53,197,928 (GRCm39) |
L140Q |
probably damaging |
Het |
| Adam17 |
T |
C |
12: 21,375,458 (GRCm39) |
D787G |
probably damaging |
Het |
| Adamtsl4 |
T |
C |
3: 95,584,864 (GRCm39) |
K935E |
probably benign |
Het |
| Alkbh2 |
C |
T |
5: 114,262,287 (GRCm39) |
E148K |
probably damaging |
Het |
| Bnip3l |
T |
C |
14: 67,246,187 (GRCm39) |
N16S |
possibly damaging |
Het |
| Cd320 |
T |
A |
17: 34,066,491 (GRCm39) |
N90K |
probably benign |
Het |
| Cdc40 |
A |
T |
10: 40,725,848 (GRCm39) |
|
probably null |
Het |
| Clec4b1 |
C |
A |
6: 123,045,443 (GRCm39) |
H55N |
probably benign |
Het |
| Duoxa2 |
G |
T |
2: 122,131,058 (GRCm39) |
S73I |
probably damaging |
Het |
| Dytn |
A |
G |
1: 63,686,606 (GRCm39) |
C355R |
probably benign |
Het |
| Emilin3 |
T |
C |
2: 160,749,716 (GRCm39) |
T631A |
probably benign |
Het |
| Ep400 |
A |
T |
5: 110,889,847 (GRCm39) |
M472K |
probably benign |
Het |
| Erap1 |
G |
T |
13: 74,811,655 (GRCm39) |
M338I |
probably benign |
Het |
| Espl1 |
A |
G |
15: 102,221,424 (GRCm39) |
I944V |
probably damaging |
Het |
| Fanca |
T |
C |
8: 124,001,911 (GRCm39) |
T1061A |
probably benign |
Het |
| Fat1 |
A |
T |
8: 45,478,518 (GRCm39) |
E2521D |
probably benign |
Het |
| Gcdh |
T |
C |
8: 85,619,082 (GRCm39) |
I152V |
probably damaging |
Het |
| Gls |
T |
C |
1: 52,235,907 (GRCm39) |
K403E |
probably damaging |
Het |
| Gorasp2 |
T |
C |
2: 70,509,857 (GRCm39) |
C173R |
probably damaging |
Het |
| Greb1l |
G |
A |
18: 10,522,150 (GRCm39) |
V749I |
probably damaging |
Het |
| Hnrnpll |
T |
C |
17: 80,340,201 (GRCm39) |
H526R |
probably benign |
Het |
| Il18r1 |
G |
A |
1: 40,514,096 (GRCm39) |
V101I |
probably benign |
Het |
| Incenp |
A |
T |
19: 9,861,142 (GRCm39) |
M480K |
unknown |
Het |
| Isl1 |
T |
A |
13: 116,439,626 (GRCm39) |
I241F |
probably benign |
Het |
| Kdm6a |
A |
G |
X: 18,117,114 (GRCm39) |
T266A |
probably benign |
Het |
| Lcp1 |
T |
C |
14: 75,452,620 (GRCm39) |
V442A |
probably damaging |
Het |
| Mast3 |
A |
G |
8: 71,233,838 (GRCm39) |
V969A |
probably damaging |
Het |
| Mbnl1 |
T |
C |
3: 60,511,176 (GRCm39) |
L136P |
probably damaging |
Het |
| Mrps24 |
G |
A |
11: 5,654,676 (GRCm39) |
R93* |
probably null |
Het |
| Nkd2 |
C |
T |
13: 73,970,809 (GRCm39) |
G258R |
probably null |
Het |
| Obscn |
T |
C |
11: 58,973,536 (GRCm39) |
T1932A |
probably damaging |
Het |
| Otop2 |
G |
A |
11: 115,220,201 (GRCm39) |
G347D |
probably damaging |
Het |
| Plagl1 |
TGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCC |
TGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCC |
10: 13,004,515 (GRCm39) |
|
probably benign |
Het |
| Ptpn18 |
A |
T |
1: 34,512,011 (GRCm39) |
H45L |
possibly damaging |
Het |
| Rab3il1 |
T |
C |
19: 10,003,988 (GRCm39) |
S36P |
probably benign |
Het |
| Rims1 |
G |
T |
1: 22,572,664 (GRCm39) |
N512K |
probably benign |
Het |
| Rinl |
T |
C |
7: 28,490,140 (GRCm39) |
Y60H |
probably benign |
Het |
| Scamp2 |
G |
T |
9: 57,484,545 (GRCm39) |
|
probably null |
Het |
| Septin9 |
T |
C |
11: 117,243,091 (GRCm39) |
S324P |
probably damaging |
Het |
| Sh3pxd2b |
G |
T |
11: 32,372,263 (GRCm39) |
A477S |
probably benign |
Het |
| Soat2 |
A |
G |
15: 102,069,526 (GRCm39) |
T396A |
possibly damaging |
Het |
| Tenm2 |
C |
T |
11: 35,899,482 (GRCm39) |
G2559S |
probably damaging |
Het |
| Tpcn1 |
G |
A |
5: 120,695,962 (GRCm39) |
A97V |
possibly damaging |
Het |
| Trdn |
A |
G |
10: 33,133,083 (GRCm39) |
E311G |
probably benign |
Het |
| Usp13 |
T |
C |
3: 32,935,572 (GRCm39) |
Y333H |
probably damaging |
Het |
| Usp18 |
A |
G |
6: 121,238,326 (GRCm39) |
T158A |
probably benign |
Het |
| Vmn1r118 |
G |
T |
7: 20,645,933 (GRCm39) |
Q114K |
probably damaging |
Het |
| Wwp1 |
A |
T |
4: 19,638,644 (GRCm39) |
N566K |
possibly damaging |
Het |
| Zfp292 |
A |
G |
4: 34,810,863 (GRCm39) |
V727A |
probably damaging |
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 |
|
R4097:Cyp4a10
|
UTSW |
4 |
115,386,480 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4298:Cyp4a10
|
UTSW |
4 |
115,389,889 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- TAGCACAGACAGTTCATCGAAC -3'
(R):5'- CTAGGTTGTAGCCTGAGAGAATGG -3'
Sequencing Primer
(F):5'- GTTCATCGAACTGCCCCAC -3'
(R):5'- AATGGTAGAGTGTGTAGGGTCATAC -3'
|
| Posted On |
2015-05-15 |
Incidental Mutation