Incidental Mutation 'IGL02203:Cyp3a11'
ID |
284384 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Cyp3a11
|
Ensembl Gene |
ENSMUSG00000056035 |
Gene Name |
cytochrome P450, family 3, subfamily a, polypeptide 11 |
Synonyms |
Cyp3a, Pcn, IIIAm1 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02203
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
145791417-145816664 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 145805976 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Serine
at position 130
(R130S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000037665
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035918]
|
AlphaFold |
Q64459 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000035918
AA Change: R130S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000037665 Gene: ENSMUSG00000056035 AA Change: R130S
Domain | Start | End | E-Value | Type |
Pfam:p450
|
38 |
494 |
2.4e-136 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199857
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca4 |
A |
C |
3: 121,973,457 (GRCm39) |
D1095A |
probably benign |
Het |
Acmsd |
T |
C |
1: 127,666,342 (GRCm39) |
|
probably benign |
Het |
Ap5m1 |
G |
A |
14: 49,317,715 (GRCm39) |
G324D |
probably damaging |
Het |
Api5 |
T |
G |
2: 94,255,419 (GRCm39) |
N252T |
probably benign |
Het |
Arhgap45 |
T |
A |
10: 79,863,387 (GRCm39) |
C743* |
probably null |
Het |
Clpb |
A |
G |
7: 101,428,544 (GRCm39) |
T435A |
probably damaging |
Het |
Csmd3 |
C |
T |
15: 47,713,073 (GRCm39) |
|
probably null |
Het |
Dennd4c |
A |
G |
4: 86,721,173 (GRCm39) |
T612A |
probably benign |
Het |
Dipk1a |
A |
G |
5: 108,059,647 (GRCm39) |
L57S |
probably benign |
Het |
Eng |
A |
G |
2: 32,561,498 (GRCm39) |
I170V |
probably benign |
Het |
Gfra2 |
T |
A |
14: 71,204,524 (GRCm39) |
M74K |
possibly damaging |
Het |
Gpr137c |
A |
G |
14: 45,514,944 (GRCm39) |
T268A |
possibly damaging |
Het |
Gramd2b |
T |
C |
18: 56,612,026 (GRCm39) |
|
probably null |
Het |
Il13ra2 |
A |
G |
X: 146,166,669 (GRCm39) |
L367P |
possibly damaging |
Het |
Insr |
T |
C |
8: 3,205,817 (GRCm39) |
H1324R |
probably benign |
Het |
Lgi3 |
A |
G |
14: 70,771,958 (GRCm39) |
E215G |
possibly damaging |
Het |
Mst1r |
A |
G |
9: 107,790,348 (GRCm39) |
T654A |
possibly damaging |
Het |
Mst1r |
A |
G |
9: 107,785,068 (GRCm39) |
Y242C |
probably damaging |
Het |
Myo16 |
A |
T |
8: 10,620,132 (GRCm39) |
Q1561L |
possibly damaging |
Het |
Obscn |
A |
C |
11: 58,973,134 (GRCm39) |
M2222R |
probably damaging |
Het |
Or10ak13 |
A |
T |
4: 118,639,626 (GRCm39) |
V52D |
possibly damaging |
Het |
Or13p10 |
A |
T |
4: 118,523,379 (GRCm39) |
I222F |
probably benign |
Het |
Or2ag1 |
A |
G |
7: 106,313,837 (GRCm39) |
I17T |
probably benign |
Het |
Or5ap2 |
T |
G |
2: 85,680,432 (GRCm39) |
F212C |
probably damaging |
Het |
Or8b50 |
A |
G |
9: 38,518,719 (GRCm39) |
|
probably benign |
Het |
Plch1 |
G |
A |
3: 63,606,160 (GRCm39) |
P1239L |
possibly damaging |
Het |
Ptprm |
A |
T |
17: 67,260,118 (GRCm39) |
I499K |
probably damaging |
Het |
Rabep2 |
G |
T |
7: 126,039,566 (GRCm39) |
R331L |
possibly damaging |
Het |
Ror2 |
C |
T |
13: 53,264,764 (GRCm39) |
S764N |
probably damaging |
Het |
Sema7a |
A |
G |
9: 57,864,889 (GRCm39) |
T397A |
probably benign |
Het |
Sftpc |
A |
C |
14: 70,759,309 (GRCm39) |
M124R |
probably damaging |
Het |
Slc25a38 |
A |
G |
9: 119,949,878 (GRCm39) |
Y198C |
probably damaging |
Het |
Sppl2a |
A |
T |
2: 126,746,861 (GRCm39) |
M489K |
possibly damaging |
Het |
Swt1 |
T |
A |
1: 151,246,377 (GRCm39) |
K849N |
probably benign |
Het |
Ttc3 |
T |
A |
16: 94,219,457 (GRCm39) |
|
probably benign |
Het |
Vmn2r63 |
A |
G |
7: 42,553,432 (GRCm39) |
V608A |
probably benign |
Het |
Vwf |
A |
G |
6: 125,619,369 (GRCm39) |
Y1349C |
probably damaging |
Het |
Ybx3 |
A |
G |
6: 131,345,371 (GRCm39) |
V265A |
probably benign |
Het |
Zfp318 |
C |
T |
17: 46,707,736 (GRCm39) |
R265* |
probably null |
Het |
|
Other mutations in Cyp3a11 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00848:Cyp3a11
|
APN |
5 |
145,799,275 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01316:Cyp3a11
|
APN |
5 |
145,791,961 (GRCm39) |
missense |
possibly damaging |
0.78 |
IGL01348:Cyp3a11
|
APN |
5 |
145,805,817 (GRCm39) |
missense |
possibly damaging |
0.80 |
IGL01591:Cyp3a11
|
APN |
5 |
145,812,291 (GRCm39) |
splice site |
probably benign |
|
IGL01665:Cyp3a11
|
APN |
5 |
145,805,475 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02894:Cyp3a11
|
APN |
5 |
145,805,836 (GRCm39) |
nonsense |
probably null |
|
IGL03201:Cyp3a11
|
APN |
5 |
145,797,189 (GRCm39) |
missense |
possibly damaging |
0.94 |
IGL03342:Cyp3a11
|
APN |
5 |
145,791,927 (GRCm39) |
missense |
probably damaging |
0.96 |
PIT4486001:Cyp3a11
|
UTSW |
5 |
145,797,302 (GRCm39) |
missense |
probably damaging |
0.99 |
R0347:Cyp3a11
|
UTSW |
5 |
145,802,735 (GRCm39) |
missense |
possibly damaging |
0.93 |
R0376:Cyp3a11
|
UTSW |
5 |
145,799,262 (GRCm39) |
nonsense |
probably null |
|
R0378:Cyp3a11
|
UTSW |
5 |
145,805,417 (GRCm39) |
missense |
probably benign |
0.43 |
R0448:Cyp3a11
|
UTSW |
5 |
145,799,204 (GRCm39) |
missense |
probably benign |
0.00 |
R0567:Cyp3a11
|
UTSW |
5 |
145,805,959 (GRCm39) |
missense |
probably damaging |
1.00 |
R0968:Cyp3a11
|
UTSW |
5 |
145,799,324 (GRCm39) |
splice site |
probably benign |
|
R1292:Cyp3a11
|
UTSW |
5 |
145,802,804 (GRCm39) |
missense |
probably benign |
0.04 |
R1400:Cyp3a11
|
UTSW |
5 |
145,799,299 (GRCm39) |
missense |
probably damaging |
0.98 |
R1478:Cyp3a11
|
UTSW |
5 |
145,795,581 (GRCm39) |
missense |
probably benign |
0.01 |
R1520:Cyp3a11
|
UTSW |
5 |
145,799,263 (GRCm39) |
missense |
probably damaging |
1.00 |
R1716:Cyp3a11
|
UTSW |
5 |
145,805,776 (GRCm39) |
missense |
probably benign |
|
R2060:Cyp3a11
|
UTSW |
5 |
145,791,891 (GRCm39) |
missense |
probably benign |
0.00 |
R2076:Cyp3a11
|
UTSW |
5 |
145,816,576 (GRCm39) |
missense |
probably benign |
|
R2227:Cyp3a11
|
UTSW |
5 |
145,805,357 (GRCm39) |
missense |
possibly damaging |
0.90 |
R3725:Cyp3a11
|
UTSW |
5 |
145,802,810 (GRCm39) |
missense |
probably benign |
0.02 |
R4222:Cyp3a11
|
UTSW |
5 |
145,797,276 (GRCm39) |
missense |
probably damaging |
0.99 |
R4256:Cyp3a11
|
UTSW |
5 |
145,806,005 (GRCm39) |
missense |
probably benign |
0.04 |
R4294:Cyp3a11
|
UTSW |
5 |
145,806,005 (GRCm39) |
missense |
probably benign |
0.04 |
R4852:Cyp3a11
|
UTSW |
5 |
145,797,305 (GRCm39) |
missense |
probably damaging |
1.00 |
R5229:Cyp3a11
|
UTSW |
5 |
145,791,945 (GRCm39) |
missense |
probably benign |
0.00 |
R5285:Cyp3a11
|
UTSW |
5 |
145,791,893 (GRCm39) |
missense |
probably benign |
0.00 |
R5590:Cyp3a11
|
UTSW |
5 |
145,802,787 (GRCm39) |
missense |
probably benign |
0.00 |
R5703:Cyp3a11
|
UTSW |
5 |
145,797,183 (GRCm39) |
missense |
probably benign |
|
R5786:Cyp3a11
|
UTSW |
5 |
145,799,284 (GRCm39) |
missense |
possibly damaging |
0.47 |
R6291:Cyp3a11
|
UTSW |
5 |
145,799,237 (GRCm39) |
missense |
possibly damaging |
0.89 |
R6405:Cyp3a11
|
UTSW |
5 |
145,799,230 (GRCm39) |
missense |
probably damaging |
0.96 |
R6892:Cyp3a11
|
UTSW |
5 |
145,797,258 (GRCm39) |
missense |
probably damaging |
0.98 |
R7114:Cyp3a11
|
UTSW |
5 |
145,795,593 (GRCm39) |
missense |
probably benign |
0.16 |
R7243:Cyp3a11
|
UTSW |
5 |
145,795,613 (GRCm39) |
missense |
probably damaging |
0.96 |
R7438:Cyp3a11
|
UTSW |
5 |
145,802,710 (GRCm39) |
missense |
probably benign |
0.39 |
R7611:Cyp3a11
|
UTSW |
5 |
145,797,191 (GRCm39) |
missense |
probably benign |
0.25 |
R8346:Cyp3a11
|
UTSW |
5 |
145,795,612 (GRCm39) |
missense |
probably damaging |
1.00 |
R8371:Cyp3a11
|
UTSW |
5 |
145,805,438 (GRCm39) |
missense |
possibly damaging |
0.92 |
R8895:Cyp3a11
|
UTSW |
5 |
145,797,330 (GRCm39) |
missense |
probably benign |
|
R9043:Cyp3a11
|
UTSW |
5 |
145,805,995 (GRCm39) |
missense |
probably benign |
0.02 |
R9300:Cyp3a11
|
UTSW |
5 |
145,799,164 (GRCm39) |
missense |
possibly damaging |
0.60 |
R9404:Cyp3a11
|
UTSW |
5 |
145,799,258 (GRCm39) |
missense |
probably benign |
0.40 |
|
Posted On |
2015-04-16 |