Incidental Mutation 'R6892:Cyp3a11'
ID |
538099 |
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 |
044986-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6892 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
145791417-145816664 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 145797258 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Phenylalanine
at position 374
(L374F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000037665
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035918]
|
AlphaFold |
Q64459 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000035918
AA Change: L374F
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000037665 Gene: ENSMUSG00000056035 AA Change: L374F
Domain | Start | End | E-Value | Type |
Pfam:p450
|
38 |
494 |
2.4e-136 |
PFAM |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 97.6%
|
Validation Efficiency |
96% (54/56) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930442H23Rik |
C |
A |
10: 81,018,978 (GRCm39) |
|
probably benign |
Het |
4933421I07Rik |
T |
C |
7: 42,095,831 (GRCm39) |
Q139R |
probably benign |
Het |
A930002H24Rik |
C |
T |
17: 64,170,759 (GRCm39) |
V10M |
unknown |
Het |
Acvr2a |
T |
A |
2: 48,787,087 (GRCm39) |
L394Q |
probably damaging |
Het |
Ano6 |
T |
C |
15: 95,865,505 (GRCm39) |
Y830H |
probably damaging |
Het |
Atp8b4 |
T |
A |
2: 126,184,922 (GRCm39) |
I914F |
possibly damaging |
Het |
Bltp3b |
G |
A |
10: 89,640,985 (GRCm39) |
V719I |
probably benign |
Het |
Cab39 |
A |
G |
1: 85,776,098 (GRCm39) |
D265G |
probably damaging |
Het |
Capn5 |
A |
T |
7: 97,785,148 (GRCm39) |
W109R |
probably damaging |
Het |
Cdk18 |
G |
T |
1: 132,049,848 (GRCm39) |
T44K |
probably benign |
Het |
Cdt1 |
T |
A |
8: 123,296,951 (GRCm39) |
N248K |
probably damaging |
Het |
Cpa4 |
G |
T |
6: 30,583,628 (GRCm39) |
R248L |
probably benign |
Het |
Cpt1a |
G |
A |
19: 3,421,660 (GRCm39) |
V481M |
probably benign |
Het |
Dcdc2a |
A |
G |
13: 25,240,443 (GRCm39) |
N64D |
probably damaging |
Het |
Dmxl1 |
G |
A |
18: 50,053,969 (GRCm39) |
R2525Q |
probably damaging |
Het |
Dscaml1 |
G |
A |
9: 45,595,128 (GRCm39) |
V744M |
probably damaging |
Het |
Dync1h1 |
G |
A |
12: 110,605,335 (GRCm39) |
E2391K |
probably benign |
Het |
Ezh1 |
A |
T |
11: 101,090,187 (GRCm39) |
Y522* |
probably null |
Het |
Fzd3 |
G |
C |
14: 65,447,330 (GRCm39) |
A533G |
possibly damaging |
Het |
Gm14403 |
T |
G |
2: 177,201,040 (GRCm39) |
C329G |
probably damaging |
Het |
Gm17067 |
A |
C |
7: 42,360,099 (GRCm39) |
|
probably null |
Het |
Gm38119 |
A |
G |
3: 92,645,529 (GRCm39) |
C22R |
unknown |
Het |
Grep1 |
A |
G |
17: 23,931,328 (GRCm39) |
L193P |
probably damaging |
Het |
Gtf3c3 |
A |
G |
1: 54,455,100 (GRCm39) |
S588P |
probably benign |
Het |
Ift140 |
A |
G |
17: 25,239,520 (GRCm39) |
E59G |
possibly damaging |
Het |
Ints1 |
A |
T |
5: 139,753,583 (GRCm39) |
M683K |
probably damaging |
Het |
Iws1 |
A |
G |
18: 32,219,327 (GRCm39) |
M470V |
probably damaging |
Het |
Mptx1 |
A |
G |
1: 174,159,831 (GRCm39) |
R46G |
probably benign |
Het |
Nhsl1 |
C |
T |
10: 18,400,091 (GRCm39) |
T439I |
probably damaging |
Het |
Or10a49 |
A |
G |
7: 108,467,722 (GRCm39) |
L213P |
probably damaging |
Het |
Peg3 |
C |
T |
7: 6,711,898 (GRCm39) |
S1108N |
possibly damaging |
Het |
Pgm1 |
A |
G |
4: 99,786,905 (GRCm39) |
E48G |
probably benign |
Het |
Pkhd1 |
G |
A |
1: 20,593,739 (GRCm39) |
T1458I |
probably damaging |
Het |
Polr1a |
A |
T |
6: 71,941,696 (GRCm39) |
D1068V |
possibly damaging |
Het |
Ptprq |
T |
C |
10: 107,411,865 (GRCm39) |
T1834A |
probably benign |
Het |
Rapgef1 |
T |
C |
2: 29,589,852 (GRCm39) |
|
probably null |
Het |
Rgl1 |
A |
T |
1: 152,415,691 (GRCm39) |
D409E |
probably benign |
Het |
Rgsl1 |
G |
T |
1: 153,697,245 (GRCm39) |
Y558* |
probably null |
Het |
Rock1 |
C |
T |
18: 10,122,612 (GRCm39) |
R403H |
probably benign |
Het |
Scn11a |
T |
A |
9: 119,636,035 (GRCm39) |
D304V |
possibly damaging |
Het |
Sdk1 |
A |
T |
5: 142,032,053 (GRCm39) |
I1043F |
probably benign |
Het |
Sgms2 |
A |
G |
3: 131,135,803 (GRCm39) |
Y24H |
probably benign |
Het |
Sppl2a |
A |
G |
2: 126,755,495 (GRCm39) |
I372T |
probably damaging |
Het |
Sptbn1 |
A |
G |
11: 30,092,187 (GRCm39) |
M526T |
probably benign |
Het |
Stxbp5l |
A |
T |
16: 37,008,991 (GRCm39) |
S683T |
possibly damaging |
Het |
Syk |
A |
T |
13: 52,786,934 (GRCm39) |
R332S |
probably benign |
Het |
Syne2 |
T |
A |
12: 76,009,302 (GRCm39) |
V2401E |
probably damaging |
Het |
Tarm1 |
T |
C |
7: 3,546,006 (GRCm39) |
Y87C |
probably damaging |
Het |
Tbc1d22b |
A |
G |
17: 29,814,864 (GRCm39) |
K378E |
possibly damaging |
Het |
Tcte1 |
A |
G |
17: 45,844,083 (GRCm39) |
T20A |
probably benign |
Het |
Tor1aip2 |
A |
T |
1: 155,940,927 (GRCm39) |
Y411F |
possibly damaging |
Het |
Trim43c |
T |
A |
9: 88,726,977 (GRCm39) |
M267K |
probably benign |
Het |
Ubr2 |
T |
G |
17: 47,245,034 (GRCm39) |
Y1664S |
probably damaging |
Het |
Vmn1r41 |
C |
A |
6: 89,724,163 (GRCm39) |
Q235K |
possibly damaging |
Het |
Wdr17 |
T |
C |
8: 55,126,631 (GRCm39) |
T401A |
probably damaging |
Het |
Zfp454 |
A |
G |
11: 50,764,025 (GRCm39) |
L469P |
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 |
|
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 |
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'- AGAGACATCATAGTATCCACAGGC -3'
(R):5'- CCTTTGAGCTGCGGAACTTG -3'
Sequencing Primer
(F):5'- TAGTATCCACAGGCTTGCAG -3'
(R):5'- AGCTGCGGAACTTGACTTTG -3'
|
Posted On |
2018-11-06 |