Incidental Mutation 'R3725:Cyp3a11'
ID |
270728 |
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 |
040716-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R3725 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
145791417-145816664 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 145802810 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 228
(F228L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000037665
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035918]
|
AlphaFold |
Q64459 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000035918
AA Change: F228L
PolyPhen 2
Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000037665 Gene: ENSMUSG00000056035 AA Change: F228L
Domain | Start | End | E-Value | Type |
Pfam:p450
|
38 |
494 |
2.4e-136 |
PFAM |
|
Meta Mutation Damage Score |
0.1365 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.5%
|
Validation Efficiency |
96% (55/57) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam8 |
T |
A |
7: 139,563,781 (GRCm39) |
R740S |
possibly damaging |
Het |
Adamtsl3 |
A |
C |
7: 82,261,612 (GRCm39) |
D1676A |
possibly damaging |
Het |
Atp6v1a |
A |
G |
16: 43,922,120 (GRCm39) |
|
probably benign |
Het |
Camsap3 |
T |
C |
8: 3,653,785 (GRCm39) |
L485P |
probably damaging |
Het |
Ccdc81 |
A |
T |
7: 89,515,838 (GRCm39) |
F614I |
possibly damaging |
Het |
Cdk5rap2 |
C |
A |
4: 70,153,674 (GRCm39) |
K1716N |
possibly damaging |
Het |
Cfap47 |
T |
A |
X: 78,553,621 (GRCm39) |
T285S |
probably damaging |
Het |
Cfh |
T |
C |
1: 140,014,234 (GRCm39) |
M1197V |
probably damaging |
Het |
Ddx24 |
A |
G |
12: 103,383,864 (GRCm39) |
M575T |
probably benign |
Het |
Dhx36 |
A |
T |
3: 62,395,643 (GRCm39) |
|
probably benign |
Het |
Dmxl2 |
T |
A |
9: 54,301,053 (GRCm39) |
I1554L |
probably damaging |
Het |
Dsp |
A |
G |
13: 38,378,665 (GRCm39) |
|
probably null |
Het |
Dsp |
A |
G |
13: 38,381,594 (GRCm39) |
S2181G |
probably benign |
Het |
Epg5 |
T |
C |
18: 78,060,894 (GRCm39) |
I1959T |
probably benign |
Het |
Fam135a |
T |
A |
1: 24,096,515 (GRCm39) |
K77* |
probably null |
Het |
Fam209 |
T |
C |
2: 172,315,915 (GRCm39) |
S97P |
probably benign |
Het |
Fbxo11 |
A |
G |
17: 88,316,714 (GRCm39) |
V323A |
probably benign |
Het |
Fzd5 |
A |
G |
1: 64,775,498 (GRCm39) |
S88P |
probably damaging |
Het |
Galnt12 |
A |
T |
4: 47,104,140 (GRCm39) |
T133S |
probably damaging |
Het |
Gja8 |
A |
G |
3: 96,827,161 (GRCm39) |
L167P |
probably damaging |
Het |
Gm8730 |
T |
C |
8: 103,591,664 (GRCm39) |
|
noncoding transcript |
Het |
Gsdmd |
A |
G |
15: 75,737,939 (GRCm39) |
D247G |
probably benign |
Het |
Iqcg |
A |
G |
16: 32,840,909 (GRCm39) |
|
probably null |
Het |
Lamb1 |
C |
T |
12: 31,371,074 (GRCm39) |
A1375V |
probably null |
Het |
Mlip |
A |
G |
9: 77,097,662 (GRCm39) |
S282P |
probably damaging |
Het |
Nfxl1 |
A |
T |
5: 72,674,405 (GRCm39) |
D831E |
probably damaging |
Het |
Nipbl |
T |
C |
15: 8,325,145 (GRCm39) |
D2506G |
probably damaging |
Het |
Or6c212 |
A |
T |
10: 129,558,984 (GRCm39) |
V143D |
probably damaging |
Het |
Or7a39 |
T |
A |
10: 78,715,766 (GRCm39) |
Y253* |
probably null |
Het |
Pcdhb9 |
T |
C |
18: 37,534,654 (GRCm39) |
L216P |
possibly damaging |
Het |
Pigc |
G |
A |
1: 161,798,860 (GRCm39) |
G281R |
possibly damaging |
Het |
Polr3g |
C |
T |
13: 81,842,754 (GRCm39) |
R87H |
probably damaging |
Het |
Ppfia4 |
T |
C |
1: 134,241,449 (GRCm39) |
D502G |
probably benign |
Het |
Psg18 |
T |
A |
7: 18,088,748 (GRCm39) |
|
probably benign |
Het |
Rad9a |
G |
A |
19: 4,247,694 (GRCm39) |
R179C |
probably damaging |
Het |
Rxra |
A |
G |
2: 27,644,289 (GRCm39) |
D327G |
probably damaging |
Het |
Samd7 |
T |
C |
3: 30,805,283 (GRCm39) |
V22A |
possibly damaging |
Het |
Slc22a29 |
A |
T |
19: 8,195,973 (GRCm39) |
V22D |
possibly damaging |
Het |
Slmap |
C |
A |
14: 26,148,397 (GRCm39) |
R671S |
probably damaging |
Het |
Smarcal1 |
T |
C |
1: 72,665,755 (GRCm39) |
F751S |
possibly damaging |
Het |
Smarcb1 |
T |
A |
10: 75,752,620 (GRCm39) |
K73N |
probably benign |
Het |
Sptssa |
T |
C |
12: 54,703,180 (GRCm39) |
E30G |
probably damaging |
Het |
Stpg2 |
A |
G |
3: 139,023,238 (GRCm39) |
K418R |
probably benign |
Het |
Tasor2 |
T |
C |
13: 3,640,538 (GRCm39) |
I200V |
probably benign |
Het |
Tmem19 |
A |
G |
10: 115,195,675 (GRCm39) |
|
probably benign |
Het |
Tmem59l |
A |
G |
8: 70,939,951 (GRCm39) |
L6S |
unknown |
Het |
Tmod1 |
T |
C |
4: 46,097,026 (GRCm39) |
V273A |
probably benign |
Het |
Tnrc6c |
C |
T |
11: 117,614,355 (GRCm39) |
R838W |
probably damaging |
Het |
Uggt1 |
A |
T |
1: 36,221,588 (GRCm39) |
L43* |
probably null |
Het |
Vmn1r205 |
A |
T |
13: 22,776,671 (GRCm39) |
F144I |
probably damaging |
Het |
Vmn2r54 |
G |
A |
7: 12,366,223 (GRCm39) |
T237I |
probably benign |
Het |
Vmn2r7 |
A |
T |
3: 64,632,412 (GRCm39) |
F17I |
possibly damaging |
Het |
Vpreb3 |
G |
A |
10: 75,779,125 (GRCm39) |
|
probably null |
Het |
Vps13d |
T |
A |
4: 144,842,218 (GRCm39) |
|
probably benign |
Het |
Zkscan5 |
A |
T |
5: 145,157,723 (GRCm39) |
R742W |
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 |
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'- CAGCTTACATGTTCACAGCCC -3'
(R):5'- CCAGGAGCAGAGTTATATTTAAGAGTC -3'
Sequencing Primer
(F):5'- ATGTTCACAGCCCAACATGTTATC -3'
(R):5'- TATTTAAGAGTCAGGTCGCAGC -3'
|
Posted On |
2015-03-18 |