Incidental Mutation 'ANU18:Cyp4a10'
ID |
262532 |
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 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.056)
|
Stock # |
ANU18
|
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 115375652 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 45
(L45P)
|
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: L45P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000061126 Gene: ENSMUSG00000066072 AA Change: L45P
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: L45P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000092486 Gene: ENSMUSG00000066072 AA Change: L45P
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: 99.1%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.4%
|
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: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1600012H06Rik |
C |
T |
17: 15,164,181 (GRCm39) |
|
probably null |
Het |
Acacb |
A |
T |
5: 114,384,559 (GRCm39) |
I2238L |
probably benign |
Het |
Aldh1l2 |
T |
C |
10: 83,358,710 (GRCm39) |
Y95C |
probably damaging |
Het |
Asxl2 |
A |
G |
12: 3,551,425 (GRCm39) |
T1056A |
probably damaging |
Het |
B4galnt1 |
A |
G |
10: 127,005,648 (GRCm39) |
T250A |
possibly damaging |
Het |
Cela3b |
A |
T |
4: 137,151,154 (GRCm39) |
|
probably null |
Het |
Chst3 |
T |
C |
10: 60,021,654 (GRCm39) |
T398A |
probably damaging |
Het |
Cngb3 |
A |
G |
4: 19,425,625 (GRCm39) |
T478A |
probably damaging |
Het |
D630003M21Rik |
A |
G |
2: 158,059,568 (GRCm39) |
S111P |
probably benign |
Het |
Defb21 |
A |
G |
2: 152,416,671 (GRCm39) |
E49G |
possibly damaging |
Het |
Dnajc1 |
T |
C |
2: 18,313,645 (GRCm39) |
T159A |
probably damaging |
Het |
Dnmbp |
A |
G |
19: 43,890,793 (GRCm39) |
S325P |
probably benign |
Het |
Fam91a1 |
T |
C |
15: 58,314,720 (GRCm39) |
F534L |
probably damaging |
Het |
Fermt2 |
T |
C |
14: 45,702,320 (GRCm39) |
E488G |
probably damaging |
Het |
Filip1 |
T |
C |
9: 79,726,462 (GRCm39) |
D719G |
possibly damaging |
Het |
Gad1-ps |
A |
G |
10: 99,281,013 (GRCm39) |
|
noncoding transcript |
Het |
Glra3 |
C |
A |
8: 56,393,997 (GRCm39) |
A36E |
probably benign |
Het |
Hnrnpm |
C |
T |
17: 33,888,142 (GRCm39) |
|
probably null |
Het |
Lct |
T |
A |
1: 128,235,784 (GRCm39) |
R408* |
probably null |
Het |
Lrrk2 |
T |
A |
15: 91,651,542 (GRCm39) |
Y1733N |
probably damaging |
Het |
Mindy1 |
T |
C |
3: 95,195,701 (GRCm39) |
L148P |
probably damaging |
Het |
Mkrn2 |
C |
A |
6: 115,588,750 (GRCm39) |
Y164* |
probably null |
Het |
Msra |
T |
C |
14: 64,447,884 (GRCm39) |
Y135C |
probably damaging |
Het |
Ndst3 |
C |
T |
3: 123,342,565 (GRCm39) |
A749T |
probably damaging |
Het |
Ngdn |
G |
T |
14: 55,254,571 (GRCm39) |
A41S |
probably benign |
Het |
Nlrp12 |
A |
T |
7: 3,288,722 (GRCm39) |
S597T |
probably damaging |
Het |
Or5b99 |
A |
T |
19: 12,976,781 (GRCm39) |
I144F |
probably damaging |
Het |
Pabpc6 |
A |
G |
17: 9,886,899 (GRCm39) |
S551P |
probably benign |
Het |
Plekhg5 |
C |
T |
4: 152,197,010 (GRCm39) |
A752V |
probably benign |
Het |
Prpf4b |
T |
C |
13: 35,068,274 (GRCm39) |
S368P |
probably benign |
Het |
Pus7 |
A |
G |
5: 23,951,422 (GRCm39) |
|
probably null |
Het |
Rab40b |
C |
G |
11: 121,248,788 (GRCm39) |
V156L |
probably benign |
Het |
Slc9a9 |
T |
A |
9: 94,937,512 (GRCm39) |
S455T |
probably benign |
Het |
Tmem26 |
A |
T |
10: 68,614,436 (GRCm39) |
N284Y |
probably damaging |
Het |
Tmem87a |
T |
C |
2: 120,211,250 (GRCm39) |
I232V |
probably benign |
Het |
Trpm2 |
A |
G |
10: 77,759,818 (GRCm39) |
L1106P |
probably damaging |
Het |
Tshz1 |
A |
G |
18: 84,032,786 (GRCm39) |
Y541H |
probably damaging |
Het |
Zfp213 |
G |
T |
17: 23,780,391 (GRCm39) |
A43D |
probably benign |
Het |
Zfp365 |
A |
G |
10: 67,745,184 (GRCm39) |
V198A |
probably damaging |
Het |
Zfp618 |
G |
A |
4: 63,051,063 (GRCm39) |
V615M |
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 |
|
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 |
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'- CGGGCAATCCTTACAGGATTTAGGC -3'
(R):5'- TGAGCAACAGTCAGACAGTAACGC -3'
Sequencing Primer
(F):5'- TCCTTACAGGATTTAGGCAGGAG -3'
(R):5'- CAGACAGTAACGCTATTGTTGG -3'
|
Posted On |
2015-02-04 |