Incidental Mutation 'PIT4486001:Cyp3a11'
ID |
556099 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cyp3a11
|
Ensembl Gene |
ENSMUSG00000056035 |
Gene Name |
cytochrome P450, family 3, subfamily a, polypeptide 11 |
Synonyms |
Cyp3a, Pcn, IIIAm1 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
PIT4486001 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
145791417-145816664 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 145797302 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 359
(M359K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000037665
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035918]
|
AlphaFold |
Q64459 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000035918
AA Change: M359K
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000037665 Gene: ENSMUSG00000056035 AA Change: M359K
Domain | Start | End | E-Value | Type |
Pfam:p450
|
38 |
494 |
2.4e-136 |
PFAM |
|
Coding Region Coverage |
- 1x: 93.0%
- 3x: 90.5%
- 10x: 84.1%
- 20x: 70.1%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700018F24Rik |
T |
C |
5: 144,980,914 (GRCm39) |
S108P |
probably damaging |
Het |
Abhd16b |
A |
T |
2: 181,135,752 (GRCm39) |
Q218L |
probably benign |
Het |
Abhd3 |
T |
A |
18: 10,645,233 (GRCm39) |
I354F |
probably benign |
Het |
Abt1 |
T |
C |
13: 23,607,851 (GRCm39) |
Y51C |
possibly damaging |
Het |
Actl9 |
T |
A |
17: 33,653,172 (GRCm39) |
Y411N |
possibly damaging |
Het |
Ano4 |
A |
G |
10: 88,828,891 (GRCm39) |
V516A |
probably damaging |
Het |
Bptf |
A |
T |
11: 106,945,614 (GRCm39) |
S2542T |
probably damaging |
Het |
Card11 |
C |
T |
5: 140,862,163 (GRCm39) |
V1045M |
probably damaging |
Het |
Ccdc121 |
T |
A |
5: 31,645,087 (GRCm39) |
I280K |
probably damaging |
Het |
Cd300ld2 |
CGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGTCAGAACTGTGGATGGCACAACTGTGCATGGCAGAACTGTGGATGGCACAACTGTGGATGGCAGAACTGTGG |
CGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGTCAGAACTGTGGATGGCACAACTGTGCATGGCAGAACTGTGGATGGCACAACTGTGGATGGCAGAACTGTGG |
11: 114,903,257 (GRCm39) |
|
probably benign |
Het |
Cdh3 |
A |
G |
8: 107,268,122 (GRCm39) |
K386E |
possibly damaging |
Het |
Cks1b |
C |
A |
3: 89,323,621 (GRCm39) |
Q49H |
probably damaging |
Het |
Clpb |
A |
T |
7: 101,313,139 (GRCm39) |
D41V |
probably benign |
Het |
Cyp3a13 |
A |
T |
5: 137,908,228 (GRCm39) |
I207N |
probably benign |
Het |
Dennd4c |
T |
A |
4: 86,717,701 (GRCm39) |
L566* |
probably null |
Het |
Dhtkd1 |
A |
T |
2: 5,904,806 (GRCm39) |
D859E |
probably benign |
Het |
Efcab6 |
T |
C |
15: 83,857,514 (GRCm39) |
D295G |
probably benign |
Het |
Fcgbp |
A |
G |
7: 27,774,698 (GRCm39) |
T91A |
possibly damaging |
Het |
Gm11569 |
GCAGCTGGGCCTGCAGCAGCTGGAAATGCAGCAGCTAGGACGGCAACA |
GCA |
11: 99,689,491 (GRCm39) |
|
probably benign |
Het |
Gsdma3 |
A |
G |
11: 98,528,880 (GRCm39) |
K454E |
unknown |
Het |
Herc1 |
T |
A |
9: 66,279,671 (GRCm39) |
I193N |
probably damaging |
Het |
Kdm5b |
T |
A |
1: 134,556,423 (GRCm39) |
L1370Q |
probably damaging |
Het |
Lrrc37 |
A |
T |
11: 103,509,027 (GRCm39) |
H980Q |
unknown |
Het |
Map4 |
T |
G |
9: 109,901,682 (GRCm39) |
V965G |
probably damaging |
Het |
Mkrn2os |
T |
C |
6: 115,562,444 (GRCm39) |
D173G |
probably benign |
Het |
Ndfip2 |
A |
G |
14: 105,532,300 (GRCm39) |
D232G |
probably damaging |
Het |
Nipal2 |
C |
T |
15: 34,584,875 (GRCm39) |
G231D |
probably damaging |
Het |
Notch3 |
A |
T |
17: 32,373,737 (GRCm39) |
N490K |
probably damaging |
Het |
Or5p68 |
A |
G |
7: 107,945,529 (GRCm39) |
S220P |
possibly damaging |
Het |
Or8g50 |
T |
A |
9: 39,648,535 (GRCm39) |
C141* |
probably null |
Het |
Prkar2a |
T |
C |
9: 108,610,326 (GRCm39) |
L185S |
probably damaging |
Het |
Ptpn9 |
T |
G |
9: 56,968,287 (GRCm39) |
N542K |
probably damaging |
Het |
Pus10 |
G |
A |
11: 23,662,326 (GRCm39) |
|
probably null |
Het |
Pyroxd2 |
A |
G |
19: 42,728,828 (GRCm39) |
S191P |
probably benign |
Het |
Rab15 |
T |
A |
12: 76,848,716 (GRCm39) |
K122* |
probably null |
Het |
Rara |
A |
G |
11: 98,864,321 (GRCm39) |
N416S |
possibly damaging |
Het |
Rims2 |
T |
C |
15: 39,339,916 (GRCm39) |
V870A |
possibly damaging |
Het |
Sec16a |
T |
C |
2: 26,315,785 (GRCm39) |
T293A |
|
Het |
Slc26a3 |
G |
A |
12: 31,520,949 (GRCm39) |
D718N |
probably benign |
Het |
Slc44a5 |
G |
A |
3: 153,964,659 (GRCm39) |
V520I |
possibly damaging |
Het |
Spata31e2 |
G |
A |
1: 26,724,410 (GRCm39) |
P257S |
probably damaging |
Het |
Tgfb2 |
A |
T |
1: 186,422,924 (GRCm39) |
Y142N |
probably benign |
Het |
Tgfbi |
A |
T |
13: 56,777,607 (GRCm39) |
I364F |
probably damaging |
Het |
Tmem144 |
A |
C |
3: 79,734,174 (GRCm39) |
D176E |
probably benign |
Het |
Tns4 |
A |
T |
11: 98,962,161 (GRCm39) |
L612Q |
probably damaging |
Het |
Toe1 |
A |
G |
4: 116,663,692 (GRCm39) |
L76S |
probably damaging |
Het |
Trank1 |
T |
C |
9: 111,219,175 (GRCm39) |
F1971L |
probably damaging |
Het |
Tsen54 |
G |
T |
11: 115,713,422 (GRCm39) |
V481F |
probably damaging |
Het |
Uimc1 |
A |
G |
13: 55,223,381 (GRCm39) |
L297P |
probably damaging |
Het |
Wnt8a |
T |
C |
18: 34,680,636 (GRCm39) |
Y334H |
probably damaging |
Het |
Zfp281 |
A |
G |
1: 136,554,741 (GRCm39) |
D573G |
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 |
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 |
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'- TTGGAATTCTTCAGGCTCTGACC -3'
(R):5'- GGTGTTTAAATCATCCCACCTCTC -3'
Sequencing Primer
(F):5'- TTCAGGCTCTGACCAGTGCTG -3'
(R):5'- GGATCCATTCATATTGGAGTCCCAG -3'
|
Posted On |
2019-06-07 |