Incidental Mutation 'R4482:Cyp4a10'
ID |
331457 |
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 |
041738-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.056)
|
Stock # |
R4482 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
115375484-115390846 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 115389795 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 467
(F467L)
|
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: F477L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000061126 Gene: ENSMUSG00000066072 AA Change: F477L
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: F467L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000092486 Gene: ENSMUSG00000066072 AA Change: F467L
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: 98.5%
- 10x: 97.1%
- 20x: 94.9%
|
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: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921536K21Rik |
A |
G |
11: 3,845,008 (GRCm39) |
V27A |
possibly damaging |
Het |
Actn3 |
A |
T |
19: 4,913,436 (GRCm39) |
|
probably null |
Het |
Adamts20 |
T |
C |
15: 94,243,801 (GRCm39) |
Y642C |
probably damaging |
Het |
Ankrd11 |
T |
C |
8: 123,620,228 (GRCm39) |
D1187G |
probably damaging |
Het |
Bag4 |
T |
C |
8: 26,275,072 (GRCm39) |
|
probably benign |
Het |
Bsn |
C |
A |
9: 107,991,863 (GRCm39) |
K1296N |
probably damaging |
Het |
Cct5 |
T |
C |
15: 31,597,715 (GRCm39) |
D58G |
probably damaging |
Het |
Dicer1 |
A |
G |
12: 104,672,536 (GRCm39) |
Y904H |
probably damaging |
Het |
Fbn1 |
A |
T |
2: 125,205,530 (GRCm39) |
|
probably null |
Het |
Fhip1b |
A |
T |
7: 105,038,881 (GRCm39) |
F119L |
probably benign |
Het |
Git1 |
T |
A |
11: 77,391,333 (GRCm39) |
Y189N |
possibly damaging |
Het |
Homer3 |
G |
A |
8: 70,742,793 (GRCm39) |
|
probably null |
Het |
Itga6 |
T |
A |
2: 71,686,259 (GRCm39) |
I1059N |
probably damaging |
Het |
Kalrn |
C |
T |
16: 33,810,180 (GRCm39) |
D2525N |
possibly damaging |
Het |
Kbtbd3 |
A |
T |
9: 4,331,051 (GRCm39) |
Y475F |
probably damaging |
Het |
Map3k6 |
T |
C |
4: 132,970,710 (GRCm39) |
I199T |
probably benign |
Het |
Mtmr7 |
T |
C |
8: 41,007,425 (GRCm39) |
M503V |
probably benign |
Het |
Muc4 |
A |
G |
16: 32,577,075 (GRCm39) |
T2192A |
unknown |
Het |
Nexn |
T |
C |
3: 151,948,390 (GRCm39) |
E391G |
probably damaging |
Het |
Or5h22 |
G |
T |
16: 58,895,286 (GRCm39) |
H52Q |
probably benign |
Het |
Parg |
A |
G |
14: 31,984,731 (GRCm39) |
I254V |
probably damaging |
Het |
Plxna2 |
C |
T |
1: 194,431,625 (GRCm39) |
S538F |
probably damaging |
Het |
Pomt2 |
G |
A |
12: 87,178,604 (GRCm39) |
P290S |
probably benign |
Het |
Rasl10a |
T |
A |
11: 5,008,429 (GRCm39) |
Y42N |
probably damaging |
Het |
Slc4a8 |
C |
A |
15: 100,708,480 (GRCm39) |
F871L |
probably damaging |
Het |
Tdrd9 |
T |
C |
12: 111,980,935 (GRCm39) |
|
probably null |
Het |
Trim21 |
G |
A |
7: 102,213,140 (GRCm39) |
Q53* |
probably null |
Het |
Triobp |
T |
C |
15: 78,850,763 (GRCm39) |
S306P |
possibly damaging |
Het |
Vasn |
A |
T |
16: 4,466,190 (GRCm39) |
T46S |
possibly damaging |
Het |
Wmp |
T |
A |
X: 106,990,237 (GRCm39) |
L225F |
possibly damaging |
Het |
Zfp236 |
A |
T |
18: 82,662,346 (GRCm39) |
F529Y |
probably benign |
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 |
R4298:Cyp4a10
|
UTSW |
4 |
115,389,889 (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'- TGAACCTGTGACAGTAGGCC -3'
(R):5'- CAGTCAGATGTGGGTAGCAG -3'
Sequencing Primer
(F):5'- CTGTGACAGTAGGCCCTGAATG -3'
(R):5'- AATCTAGAGCAAGGTGTGTGTG -3'
|
Posted On |
2015-07-21 |