Incidental Mutation 'R1292:Cyp3a11'
ID |
150813 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cyp3a11
|
Ensembl Gene |
ENSMUSG00000056035 |
Gene Name |
cytochrome P450, family 3, subfamily a, polypeptide 11 |
Synonyms |
Cyp3a, Pcn, IIIAm1 |
MMRRC Submission |
039358-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1292 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
145791417-145816664 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 145802804 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 230
(T230A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000037665
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035918]
|
AlphaFold |
Q64459 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000035918
AA Change: T230A
PolyPhen 2
Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000037665 Gene: ENSMUSG00000056035 AA Change: T230A
Domain | Start | End | E-Value | Type |
Pfam:p450
|
38 |
494 |
2.4e-136 |
PFAM |
|
Meta Mutation Damage Score |
0.0801 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 97.0%
- 20x: 94.7%
|
Validation Efficiency |
97% (31/32) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930550C14Rik |
T |
A |
9: 53,336,919 (GRCm39) |
D74E |
probably benign |
Het |
Abcb1a |
A |
T |
5: 8,763,343 (GRCm39) |
T624S |
probably benign |
Het |
Atp8b1 |
T |
C |
18: 64,704,092 (GRCm39) |
Y342C |
probably damaging |
Het |
Clcnka |
A |
G |
4: 141,122,903 (GRCm39) |
|
probably benign |
Het |
Cma2 |
C |
T |
14: 56,211,199 (GRCm39) |
R164C |
probably damaging |
Het |
Cnga1 |
T |
C |
5: 72,762,026 (GRCm39) |
D496G |
probably damaging |
Het |
Ctbp2 |
T |
A |
7: 132,616,918 (GRCm39) |
R6W |
probably damaging |
Het |
Defb40 |
A |
C |
8: 19,028,080 (GRCm39) |
I18S |
probably benign |
Het |
Fcgbpl1 |
A |
C |
7: 27,842,219 (GRCm39) |
|
probably benign |
Het |
Gm10036 |
T |
G |
18: 15,966,368 (GRCm39) |
I173S |
possibly damaging |
Het |
Herc2 |
A |
T |
7: 55,846,951 (GRCm39) |
I3634L |
probably benign |
Het |
Igfbp1 |
A |
G |
11: 7,150,863 (GRCm39) |
N218S |
probably damaging |
Het |
Jag1 |
C |
G |
2: 136,925,393 (GRCm39) |
V1070L |
possibly damaging |
Het |
Kmt2a |
A |
T |
9: 44,725,991 (GRCm39) |
|
probably benign |
Het |
Ly9 |
T |
C |
1: 171,416,671 (GRCm39) |
|
probably null |
Het |
Mmut |
C |
A |
17: 41,252,298 (GRCm39) |
A280E |
probably damaging |
Het |
Or5k16 |
C |
T |
16: 58,736,134 (GRCm39) |
R290K |
probably damaging |
Het |
Or6k6 |
A |
G |
1: 173,945,420 (GRCm39) |
F54S |
probably benign |
Het |
Pcdhb13 |
T |
C |
18: 37,576,885 (GRCm39) |
V421A |
probably benign |
Het |
Pik3ca |
T |
A |
3: 32,508,569 (GRCm39) |
L779Q |
probably damaging |
Het |
Plxnd1 |
T |
C |
6: 115,939,644 (GRCm39) |
|
probably benign |
Het |
Prss16 |
T |
A |
13: 22,193,691 (GRCm39) |
K35* |
probably null |
Het |
Rhbdl2 |
G |
A |
4: 123,723,435 (GRCm39) |
A280T |
possibly damaging |
Het |
Slc2a2 |
C |
T |
3: 28,771,637 (GRCm39) |
T189I |
probably damaging |
Het |
Srsf6 |
C |
T |
2: 162,776,403 (GRCm39) |
|
probably benign |
Het |
Tacr1 |
A |
G |
6: 82,531,856 (GRCm39) |
I251V |
probably damaging |
Het |
Tln1 |
A |
G |
4: 43,534,578 (GRCm39) |
|
probably null |
Het |
Vdac3-ps1 |
T |
C |
13: 18,205,880 (GRCm39) |
|
noncoding transcript |
Het |
Zfp458 |
A |
T |
13: 67,404,754 (GRCm39) |
C562S |
probably damaging |
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 |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TTTCTATCTGCCACTAGCACACAGC -3'
(R):5'- TCAGGTCGCAGCTTTGGCTACTAC -3'
Sequencing Primer
(F):5'- CTAGCACACAGCTTACATGTTC -3'
(R):5'- AGCTTTGGCTACTACACAGC -3'
|
Posted On |
2014-01-29 |