Incidental Mutation 'R9299:Cyp4a10'
ID |
704775 |
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 |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.056)
|
Stock # |
R9299 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
115375484-115390846 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 115376947 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Valine
at position 104
(M104V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000061126
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058785]
[ENSMUST00000094886]
|
AlphaFold |
O88833 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000058785
AA Change: M104V
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000061126 Gene: ENSMUSG00000066072 AA Change: M104V
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: M104V
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000092486 Gene: ENSMUSG00000066072 AA Change: M104V
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 |
0.1053 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
100% (60/60) |
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: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700017B05Rik |
G |
T |
9: 57,163,792 (GRCm39) |
R861S |
possibly damaging |
Het |
Abca12 |
T |
A |
1: 71,359,042 (GRCm39) |
N588I |
possibly damaging |
Het |
Adamts9 |
A |
G |
6: 92,773,976 (GRCm39) |
Y1727H |
probably benign |
Het |
Ahnak |
G |
A |
19: 8,989,824 (GRCm39) |
|
probably benign |
Het |
Alad |
C |
T |
4: 62,429,760 (GRCm39) |
|
probably null |
Het |
Anapc15-ps |
C |
A |
10: 95,509,077 (GRCm39) |
D68Y |
probably damaging |
Het |
Arhgap45 |
T |
C |
10: 79,862,565 (GRCm39) |
S645P |
possibly damaging |
Het |
Atp9a |
A |
T |
2: 168,554,666 (GRCm39) |
M1K |
probably null |
Het |
B020004C17Rik |
A |
T |
14: 57,254,230 (GRCm39) |
I118F |
probably damaging |
Het |
Capn13 |
T |
A |
17: 73,633,467 (GRCm39) |
|
probably null |
Het |
Ccdc7a |
T |
C |
8: 129,616,319 (GRCm39) |
Q928R |
probably benign |
Het |
Cdc42bpa |
C |
A |
1: 179,972,073 (GRCm39) |
L1292I |
probably damaging |
Het |
Clec2e |
A |
C |
6: 129,072,092 (GRCm39) |
F96V |
probably benign |
Het |
Cmklr1 |
G |
C |
5: 113,752,043 (GRCm39) |
H319Q |
probably benign |
Het |
Cnot1 |
T |
C |
8: 96,468,448 (GRCm39) |
I1460M |
probably damaging |
Het |
Cyc1 |
T |
C |
15: 76,228,506 (GRCm39) |
V45A |
probably benign |
Het |
Cyth1 |
C |
T |
11: 118,059,837 (GRCm39) |
|
probably benign |
Het |
Dnhd1 |
T |
A |
7: 105,369,806 (GRCm39) |
N4410K |
probably benign |
Het |
Dok4 |
T |
A |
8: 95,593,469 (GRCm39) |
T106S |
probably benign |
Het |
Dpcd |
C |
A |
19: 45,566,009 (GRCm39) |
Q203K |
probably damaging |
Het |
Dph1 |
T |
A |
11: 75,070,622 (GRCm39) |
Q339L |
possibly damaging |
Het |
Dpy19l3 |
G |
T |
7: 35,424,752 (GRCm39) |
S187* |
probably null |
Het |
Eva1a |
G |
T |
6: 82,069,047 (GRCm39) |
A125S |
probably damaging |
Het |
Fam24b |
T |
A |
7: 130,927,949 (GRCm39) |
Y80F |
probably benign |
Het |
Frem2 |
T |
C |
3: 53,563,980 (GRCm39) |
T176A |
probably benign |
Het |
Gal3st3 |
A |
T |
19: 5,356,868 (GRCm39) |
N81I |
probably damaging |
Het |
Gm12888 |
G |
A |
4: 121,182,044 (GRCm39) |
S16F |
unknown |
Het |
Hsf5 |
T |
A |
11: 87,526,770 (GRCm39) |
C481S |
probably benign |
Het |
Ifi211 |
T |
A |
1: 173,735,288 (GRCm39) |
Q47L |
probably damaging |
Het |
Il17re |
A |
T |
6: 113,440,971 (GRCm39) |
M202L |
probably benign |
Het |
Krtap5-3 |
T |
A |
7: 141,756,267 (GRCm39) |
H175Q |
unknown |
Het |
Ksr2 |
G |
A |
5: 117,885,399 (GRCm39) |
|
probably null |
Het |
Lrtm1 |
C |
T |
14: 28,743,714 (GRCm39) |
P61S |
probably damaging |
Het |
Ltk |
A |
T |
2: 119,584,721 (GRCm39) |
S487R |
possibly damaging |
Het |
Mis18bp1 |
A |
T |
12: 65,185,538 (GRCm39) |
D876E |
possibly damaging |
Het |
Nalf1 |
T |
C |
8: 9,820,156 (GRCm39) |
Y288C |
probably damaging |
Het |
Or8b39 |
A |
G |
9: 37,996,785 (GRCm39) |
T218A |
probably benign |
Het |
Paqr7 |
A |
G |
4: 134,234,311 (GRCm39) |
N56S |
probably benign |
Het |
Pcdhb22 |
G |
T |
18: 37,651,885 (GRCm39) |
E118* |
probably null |
Het |
Pcdhb4 |
G |
A |
18: 37,442,264 (GRCm39) |
A525T |
probably benign |
Het |
Pik3cb |
A |
G |
9: 98,943,844 (GRCm39) |
F653S |
probably damaging |
Het |
Pla2g4e |
T |
A |
2: 120,002,204 (GRCm39) |
D617V |
probably damaging |
Het |
Plekha1 |
T |
A |
7: 130,511,348 (GRCm39) |
C311S |
possibly damaging |
Het |
Poteg |
A |
G |
8: 27,940,287 (GRCm39) |
Y156C |
probably benign |
Het |
Rev3l |
T |
C |
10: 39,723,999 (GRCm39) |
S2644P |
probably damaging |
Het |
Rnf40 |
T |
A |
7: 127,188,172 (GRCm39) |
S2T |
probably benign |
Het |
Rrp8 |
T |
C |
7: 105,383,384 (GRCm39) |
D294G |
probably damaging |
Het |
Slc6a21 |
T |
C |
7: 44,937,130 (GRCm39) |
V252A |
|
Het |
Slx9 |
C |
A |
10: 77,351,535 (GRCm39) |
A14S |
possibly damaging |
Het |
Socs1 |
T |
C |
16: 10,602,578 (GRCm39) |
D53G |
possibly damaging |
Het |
St6galnac6 |
G |
T |
2: 32,502,345 (GRCm39) |
R78L |
probably benign |
Het |
Tbce |
T |
C |
13: 14,194,398 (GRCm39) |
K87R |
probably benign |
Het |
Tep1 |
T |
C |
14: 51,081,988 (GRCm39) |
|
probably benign |
Het |
Thada |
T |
C |
17: 84,749,205 (GRCm39) |
M589V |
probably benign |
Het |
Thsd7a |
A |
G |
6: 12,504,131 (GRCm39) |
F341S |
|
Het |
Tmem82 |
A |
T |
4: 141,343,861 (GRCm39) |
C136* |
probably null |
Het |
Tmprss11a |
A |
T |
5: 86,570,361 (GRCm39) |
C199* |
probably null |
Het |
Zbtb48 |
T |
C |
4: 152,105,147 (GRCm39) |
N505S |
possibly damaging |
Het |
Zfp385b |
A |
T |
2: 77,246,115 (GRCm39) |
V304E |
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 |
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 |
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'- AGCTATGTTCCTGTGCTTGC -3'
(R):5'- TCCTATGTGTTCTGGAAGGAAAC -3'
Sequencing Primer
(F):5'- ACTCTTGTCTCCAGTCCAAAAACTAG -3'
(R):5'- TGTGTTCTGGAAGGAAACAATTAG -3'
|
Posted On |
2022-03-25 |