Incidental Mutation 'IGL00774:Cyp4a10'
| ID |
277908 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 # |
IGL00774
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
115375484-115390846 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 115389735 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 447
(I447F)
|
| 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: I457F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000061126
Gene: ENSMUSG00000066072
AA Change: I457F
| 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: I447F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000092486
Gene: ENSMUSG00000066072
AA Change: I447F
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
17 |
39 |
N/A |
INTRINSIC |
|
Pfam:p450
|
51 |
494 |
4.5e-129 |
PFAM |
|
| Coding Region Coverage |
|
| 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: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamtsl1 |
G |
A |
4: 86,306,776 (GRCm39) |
A1397T |
possibly damaging |
Het |
| Aldob |
A |
G |
4: 49,536,843 (GRCm39) |
S349P |
probably benign |
Het |
| Cd2 |
A |
T |
3: 101,190,345 (GRCm39) |
|
probably null |
Het |
| Cmtm2a |
A |
G |
8: 105,019,562 (GRCm39) |
S43P |
probably damaging |
Het |
| Cts6 |
T |
C |
13: 61,346,153 (GRCm39) |
|
probably benign |
Het |
| E2f3 |
A |
T |
13: 30,102,687 (GRCm39) |
D68E |
probably damaging |
Het |
| Ect2 |
G |
A |
3: 27,152,592 (GRCm39) |
R869W |
probably damaging |
Het |
| Eml1 |
A |
G |
12: 108,480,774 (GRCm39) |
|
probably null |
Het |
| Fundc1 |
T |
A |
X: 17,424,252 (GRCm39) |
|
probably null |
Het |
| Gabrb1 |
G |
T |
5: 72,265,789 (GRCm39) |
|
probably null |
Het |
| Lrrk2 |
T |
G |
15: 91,686,036 (GRCm39) |
|
probably benign |
Het |
| Map3k2 |
C |
T |
18: 32,361,292 (GRCm39) |
P584L |
probably benign |
Het |
| Mindy2 |
T |
C |
9: 70,538,315 (GRCm39) |
D340G |
probably benign |
Het |
| Nav3 |
T |
C |
10: 109,652,124 (GRCm39) |
D877G |
probably damaging |
Het |
| Nol9 |
T |
C |
4: 152,136,472 (GRCm39) |
S515P |
probably benign |
Het |
| Osgepl1 |
A |
G |
1: 53,359,405 (GRCm39) |
I305V |
probably benign |
Het |
| Pign |
A |
G |
1: 105,525,481 (GRCm39) |
V449A |
probably benign |
Het |
| Rad54b |
G |
A |
4: 11,593,765 (GRCm39) |
R131K |
probably benign |
Het |
| Rgl3 |
A |
T |
9: 21,899,018 (GRCm39) |
|
probably benign |
Het |
| Scn2a |
A |
G |
2: 65,566,197 (GRCm39) |
D1407G |
probably damaging |
Het |
| Sf3b3 |
A |
T |
8: 111,544,270 (GRCm39) |
I790N |
probably damaging |
Het |
| Srebf1 |
C |
T |
11: 60,095,965 (GRCm39) |
R358Q |
probably damaging |
Het |
| Tmem18 |
A |
G |
12: 30,638,720 (GRCm39) |
R133G |
unknown |
Het |
| Tnfrsf11b |
T |
G |
15: 54,117,468 (GRCm39) |
R262S |
probably benign |
Het |
| Tsc1 |
A |
T |
2: 28,555,023 (GRCm39) |
H171L |
probably damaging |
Het |
| Ubr5 |
T |
C |
15: 38,006,785 (GRCm39) |
T1157A |
probably benign |
Het |
| Wdcp |
A |
G |
12: 4,905,303 (GRCm39) |
E608G |
probably damaging |
Het |
| Zbtb40 |
T |
G |
4: 136,721,835 (GRCm39) |
H848P |
probably damaging |
Het |
|
| Other mutations in Cyp4a10 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation