Incidental Mutation 'R5703:Cyp3a11'
ID |
451790 |
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 |
043183-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5703 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
145791417-145816664 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 145797183 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Threonine
at position 399
(S399T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000037665
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035918]
|
AlphaFold |
Q64459 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000035918
AA Change: S399T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000037665 Gene: ENSMUSG00000056035 AA Change: S399T
Domain | Start | End | E-Value | Type |
Pfam:p450
|
38 |
494 |
2.4e-136 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 95.0%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrb3 |
T |
A |
1: 25,459,640 (GRCm39) |
N605I |
probably damaging |
Het |
Btd |
C |
T |
14: 31,389,004 (GRCm39) |
R242* |
probably null |
Het |
Cdc42bpg |
A |
G |
19: 6,372,703 (GRCm39) |
D1502G |
possibly damaging |
Het |
Chst2 |
A |
G |
9: 95,286,985 (GRCm39) |
F454L |
probably damaging |
Het |
Col16a1 |
G |
A |
4: 129,947,092 (GRCm39) |
A146T |
probably damaging |
Het |
Dspp |
C |
T |
5: 104,324,917 (GRCm39) |
H427Y |
possibly damaging |
Het |
Dtx4 |
A |
T |
19: 12,459,574 (GRCm39) |
M410K |
possibly damaging |
Het |
Ecpas |
A |
T |
4: 58,877,171 (GRCm39) |
|
probably null |
Het |
Epb41l2 |
C |
T |
10: 25,317,665 (GRCm39) |
R61W |
probably damaging |
Het |
Gbp6 |
T |
C |
5: 105,421,147 (GRCm39) |
K553E |
probably benign |
Het |
Git1 |
CCG |
C |
11: 77,395,494 (GRCm39) |
|
probably null |
Het |
Gm13199 |
C |
T |
2: 5,867,259 (GRCm39) |
|
probably benign |
Het |
Gramd2a |
G |
A |
9: 59,615,299 (GRCm39) |
G13R |
probably benign |
Het |
Hoxa2 |
G |
T |
6: 52,140,243 (GRCm39) |
Q248K |
probably damaging |
Het |
Hycc1 |
A |
T |
5: 24,185,577 (GRCm39) |
|
probably null |
Het |
Krt33b |
T |
C |
11: 99,916,374 (GRCm39) |
T228A |
probably benign |
Het |
Loxhd1 |
A |
G |
18: 77,444,573 (GRCm39) |
E324G |
probably damaging |
Het |
Map3k20 |
A |
G |
2: 72,232,514 (GRCm39) |
N390S |
probably benign |
Het |
Mroh7 |
A |
G |
4: 106,565,757 (GRCm39) |
Y126H |
possibly damaging |
Het |
Muc4 |
G |
A |
16: 32,555,059 (GRCm39) |
W15* |
probably null |
Het |
Ndrg2 |
T |
A |
14: 52,147,579 (GRCm39) |
|
probably null |
Het |
Ntsr1 |
T |
C |
2: 180,142,226 (GRCm39) |
S6P |
probably damaging |
Het |
Or5m10 |
T |
C |
2: 85,717,783 (GRCm39) |
I213T |
probably benign |
Het |
Or5p70 |
G |
A |
7: 107,994,707 (GRCm39) |
V127I |
probably benign |
Het |
Pcdhb6 |
A |
T |
18: 37,467,753 (GRCm39) |
T225S |
probably benign |
Het |
Rfng |
C |
A |
11: 120,672,842 (GRCm39) |
V294L |
probably benign |
Het |
Scml4 |
C |
T |
10: 42,741,566 (GRCm39) |
|
probably benign |
Het |
Slc5a2 |
A |
G |
7: 127,869,787 (GRCm39) |
I407V |
possibly damaging |
Het |
Strc |
T |
C |
2: 121,201,295 (GRCm39) |
T1267A |
probably benign |
Het |
Tanc1 |
T |
C |
2: 59,626,341 (GRCm39) |
V566A |
probably damaging |
Het |
Tas1r2 |
T |
C |
4: 139,394,647 (GRCm39) |
S468P |
probably damaging |
Het |
Tenm2 |
T |
A |
11: 35,914,626 (GRCm39) |
T2304S |
probably benign |
Het |
Tirap |
A |
T |
9: 35,100,054 (GRCm39) |
L210Q |
probably damaging |
Het |
Vav3 |
A |
T |
3: 109,248,557 (GRCm39) |
Q68L |
probably benign |
Het |
Vmn2r54 |
C |
T |
7: 12,363,594 (GRCm39) |
S433N |
probably benign |
Het |
Wars1 |
A |
T |
12: 108,841,047 (GRCm39) |
Y244N |
probably damaging |
Het |
Zc3h6 |
A |
G |
2: 128,835,372 (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 |
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 |
|
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 |
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'- CTCCTCACACAATGCAAATGTTTG -3'
(R):5'- GGGGATGCTGAGAACTCAAC -3'
Sequencing Primer
(F):5'- CACACAATGCAAATGTTTGTAAAATC -3'
(R):5'- GGATGCTGAGAACTCAACACTAGAC -3'
|
Posted On |
2017-01-03 |