Incidental Mutation 'IGL01316:Cyp3a11'
| ID |
73840 |
| 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 # |
IGL01316
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
145791417-145816664 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 145791961 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Asparagine
at position 477
(K477N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000037665
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035918]
|
| AlphaFold |
Q64459 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000035918
AA Change: K477N
PolyPhen 2
Score 0.781 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000037665
Gene: ENSMUSG00000056035
AA Change: K477N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:p450
|
38 |
494 |
2.4e-136 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca4 |
T |
C |
3: 121,935,404 (GRCm39) |
V326A |
probably damaging |
Het |
| Aldh1l1 |
A |
G |
6: 90,575,362 (GRCm39) |
D883G |
probably damaging |
Het |
| Ankk1 |
A |
G |
9: 49,331,784 (GRCm39) |
|
probably benign |
Het |
| Cacna1s |
T |
C |
1: 136,046,702 (GRCm39) |
V1796A |
probably benign |
Het |
| Ccdc186 |
A |
C |
19: 56,801,845 (GRCm39) |
C91G |
probably benign |
Het |
| Clec5a |
T |
C |
6: 40,559,196 (GRCm39) |
T63A |
probably benign |
Het |
| Dram2 |
T |
A |
3: 106,480,296 (GRCm39) |
V116E |
possibly damaging |
Het |
| Dram2 |
T |
C |
3: 106,478,950 (GRCm39) |
Y181H |
probably benign |
Het |
| Eps15l1 |
A |
T |
8: 73,143,258 (GRCm39) |
F184L |
possibly damaging |
Het |
| Greb1 |
T |
A |
12: 16,748,587 (GRCm39) |
H1102L |
probably benign |
Het |
| Inpp5f |
G |
A |
7: 128,292,430 (GRCm39) |
|
probably benign |
Het |
| Kcng1 |
T |
C |
2: 168,110,960 (GRCm39) |
N68S |
probably damaging |
Het |
| Klhl41 |
A |
G |
2: 69,505,068 (GRCm39) |
D457G |
probably benign |
Het |
| Krt1c |
T |
C |
15: 101,719,646 (GRCm39) |
R675G |
probably benign |
Het |
| Med13l |
T |
A |
5: 118,900,846 (GRCm39) |
V2200D |
probably damaging |
Het |
| Mme |
T |
A |
3: 63,247,580 (GRCm39) |
|
probably benign |
Het |
| Nexn |
A |
T |
3: 151,952,870 (GRCm39) |
F283L |
probably benign |
Het |
| Noxa1 |
T |
C |
2: 24,976,023 (GRCm39) |
D389G |
probably benign |
Het |
| Or2n1c |
A |
G |
17: 38,519,388 (GRCm39) |
N84S |
probably damaging |
Het |
| Or7g21 |
A |
G |
9: 19,032,718 (GRCm39) |
I156V |
probably benign |
Het |
| Parp1 |
A |
G |
1: 180,420,500 (GRCm39) |
|
probably benign |
Het |
| Pirt |
T |
C |
11: 66,816,772 (GRCm39) |
S28P |
probably damaging |
Het |
| Ros1 |
A |
G |
10: 51,963,975 (GRCm39) |
|
probably null |
Het |
| Sdk2 |
T |
C |
11: 113,758,791 (GRCm39) |
T478A |
probably benign |
Het |
| Secisbp2 |
T |
C |
13: 51,808,552 (GRCm39) |
S106P |
probably benign |
Het |
| Shroom1 |
C |
T |
11: 53,356,385 (GRCm39) |
A416V |
probably damaging |
Het |
| Ski |
C |
T |
4: 155,306,143 (GRCm39) |
A279T |
probably damaging |
Het |
| Stxbp4 |
A |
G |
11: 90,512,475 (GRCm39) |
|
probably benign |
Het |
| Tab2 |
A |
G |
10: 7,800,468 (GRCm39) |
V28A |
probably damaging |
Het |
| Tmem126a |
G |
A |
7: 90,101,927 (GRCm39) |
P91S |
probably damaging |
Het |
| Ucma |
T |
C |
2: 4,986,042 (GRCm39) |
|
probably benign |
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 |
|
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 |
|
IGL02203:Cyp3a11
|
APN |
5 |
145,805,976 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2013-10-07 |
Incidental Mutation