Incidental Mutation 'R4222:Cyp3a11'
| ID |
319396 |
| 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 |
041042-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4222 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
145791417-145816664 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 145797276 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 368
(Y368N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000037665
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035918]
|
| AlphaFold |
Q64459 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000035918
AA Change: Y368N
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000037665
Gene: ENSMUSG00000056035
AA Change: Y368N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:p450
|
38 |
494 |
2.4e-136 |
PFAM |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 95.3%
|
| Validation Efficiency |
91% (49/54) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgre4 |
A |
G |
17: 56,092,121 (GRCm39) |
Y127C |
probably damaging |
Het |
| Aif1l |
A |
T |
2: 31,852,251 (GRCm39) |
S40C |
probably damaging |
Het |
| Alkal1 |
A |
G |
1: 6,458,839 (GRCm39) |
K76R |
probably damaging |
Het |
| Atm |
T |
C |
9: 53,391,969 (GRCm39) |
S1807G |
probably benign |
Het |
| Bhmt-ps1 |
T |
A |
4: 26,369,352 (GRCm39) |
|
noncoding transcript |
Het |
| Brd10 |
A |
T |
19: 29,696,149 (GRCm39) |
S1115T |
probably benign |
Het |
| Gar1 |
A |
T |
3: 129,624,455 (GRCm39) |
|
probably benign |
Het |
| Gm5265 |
A |
T |
1: 169,281,370 (GRCm39) |
|
noncoding transcript |
Het |
| Gm7964 |
T |
G |
7: 83,406,030 (GRCm39) |
N281K |
probably damaging |
Het |
| Grin1 |
T |
C |
2: 25,187,332 (GRCm39) |
|
probably benign |
Het |
| H1f5 |
A |
T |
13: 21,964,147 (GRCm39) |
|
probably benign |
Het |
| Hapln4 |
T |
A |
8: 70,539,610 (GRCm39) |
W214R |
probably damaging |
Het |
| Ift56 |
A |
G |
6: 38,372,010 (GRCm39) |
Y200C |
probably damaging |
Het |
| Irgq |
C |
A |
7: 24,233,050 (GRCm39) |
A297D |
possibly damaging |
Het |
| Kri1 |
T |
C |
9: 21,192,359 (GRCm39) |
E145G |
probably benign |
Het |
| Lama3 |
T |
C |
18: 12,583,460 (GRCm39) |
C683R |
probably damaging |
Het |
| Mrpl22 |
T |
A |
11: 58,062,693 (GRCm39) |
|
probably benign |
Het |
| Myo7a |
T |
A |
7: 97,722,436 (GRCm39) |
Q1163L |
possibly damaging |
Het |
| Nipsnap3a |
T |
A |
4: 52,997,251 (GRCm39) |
D172E |
probably benign |
Het |
| Nrxn3 |
G |
T |
12: 89,499,762 (GRCm39) |
G718* |
probably null |
Het |
| Olfm3 |
C |
T |
3: 114,883,820 (GRCm39) |
Q41* |
probably null |
Het |
| Or52z12 |
A |
G |
7: 103,233,966 (GRCm39) |
T246A |
probably damaging |
Het |
| Or8u8 |
G |
T |
2: 86,012,341 (GRCm39) |
T38K |
probably damaging |
Het |
| Parm1 |
G |
A |
5: 91,741,726 (GRCm39) |
M31I |
probably benign |
Het |
| Phc3 |
A |
T |
3: 30,990,968 (GRCm39) |
S383R |
probably damaging |
Het |
| Pkn2 |
A |
T |
3: 142,499,627 (GRCm39) |
L950* |
probably null |
Het |
| Plec |
C |
T |
15: 76,061,519 (GRCm39) |
R2671H |
probably damaging |
Het |
| Ptbp1 |
T |
C |
10: 79,695,047 (GRCm39) |
I125T |
probably benign |
Het |
| Ptch1 |
C |
T |
13: 63,682,143 (GRCm39) |
R537H |
probably damaging |
Het |
| Ptk7 |
A |
T |
17: 46,885,389 (GRCm39) |
M679K |
probably benign |
Het |
| Ptx3 |
C |
T |
3: 66,132,127 (GRCm39) |
T216I |
probably damaging |
Het |
| Rrp8 |
T |
C |
7: 105,383,229 (GRCm39) |
I346V |
possibly damaging |
Het |
| Rsrc1 |
A |
G |
3: 66,901,900 (GRCm39) |
K17E |
unknown |
Het |
| Ryr2 |
T |
A |
13: 11,752,759 (GRCm39) |
E1854V |
possibly damaging |
Het |
| Semp2l2a |
T |
C |
8: 13,888,061 (GRCm39) |
E10G |
probably benign |
Het |
| Slc25a45 |
A |
T |
19: 5,930,146 (GRCm39) |
I39F |
probably damaging |
Het |
| Spag5 |
G |
A |
11: 78,195,337 (GRCm39) |
V215I |
probably damaging |
Het |
| Ston1 |
A |
G |
17: 88,944,199 (GRCm39) |
Y535C |
probably damaging |
Het |
| Tbc1d14 |
A |
T |
5: 36,650,452 (GRCm39) |
S395T |
probably benign |
Het |
| Tlr11 |
C |
T |
14: 50,599,306 (GRCm39) |
P431S |
probably damaging |
Het |
| Trerf1 |
G |
T |
17: 47,625,727 (GRCm39) |
|
noncoding transcript |
Het |
| Trim43b |
T |
A |
9: 88,972,692 (GRCm39) |
Q154L |
probably benign |
Het |
| Vmn1r49 |
A |
G |
6: 90,049,228 (GRCm39) |
F258S |
probably benign |
Het |
| Vmn1r-ps103 |
C |
A |
13: 22,626,198 (GRCm39) |
|
noncoding transcript |
Het |
| Vmn2r14 |
A |
G |
5: 109,364,149 (GRCm39) |
M589T |
probably benign |
Het |
| Vmn2r60 |
A |
T |
7: 41,765,952 (GRCm39) |
T20S |
probably benign |
Het |
| Zbtb5 |
A |
G |
4: 44,993,855 (GRCm39) |
|
probably null |
Het |
| Zfp35 |
T |
G |
18: 24,136,246 (GRCm39) |
F197V |
possibly 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 |
|
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'- TAGTATCCACAGGCTTGCAG -3'
(R):5'- CTAACTAAGTCCTTTGAGCTGCGG -3'
Sequencing Primer
(F):5'- TAGTATCCACAGGCTTGCAGAGTAC -3'
(R):5'- CCTTTGAGCTGCGGAACTTGAC -3'
|
| Posted On |
2015-06-10 |
Incidental Mutation