Incidental Mutation 'IGL01923:Cyp2j13'
ID |
180179 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Cyp2j13
|
Ensembl Gene |
ENSMUSG00000028571 |
Gene Name |
cytochrome P450, family 2, subfamily j, polypeptide 13 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.058)
|
Stock # |
IGL01923
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
95930897-95965803 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 95950294 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tryptophan to Arginine
at position 236
(W236R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000095587
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030305]
[ENSMUST00000097973]
[ENSMUST00000107078]
|
AlphaFold |
Q3UNV4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000030305
AA Change: W236R
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000030305 Gene: ENSMUSG00000028571 AA Change: W236R
Domain | Start | End | E-Value | Type |
transmembrane domain
|
10 |
32 |
N/A |
INTRINSIC |
Pfam:p450
|
44 |
499 |
6.7e-131 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000097973
AA Change: W236R
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000095587 Gene: ENSMUSG00000028571 AA Change: W236R
Domain | Start | End | E-Value | Type |
transmembrane domain
|
10 |
32 |
N/A |
INTRINSIC |
Pfam:p450
|
44 |
404 |
8.9e-97 |
PFAM |
low complexity region
|
411 |
420 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000107078
|
SMART Domains |
Protein: ENSMUSP00000102693 Gene: ENSMUSG00000028571
Domain | Start | End | E-Value | Type |
transmembrane domain
|
10 |
32 |
N/A |
INTRINSIC |
Pfam:p450
|
44 |
231 |
2.5e-39 |
PFAM |
Pfam:p450
|
218 |
345 |
8.6e-41 |
PFAM |
low complexity region
|
352 |
361 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000132513
|
SMART Domains |
Protein: ENSMUSP00000121962 Gene: ENSMUSG00000028571
Domain | Start | End | E-Value | Type |
Pfam:p450
|
1 |
156 |
2.1e-50 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrd1 |
T |
A |
5: 129,255,143 (GRCm39) |
S597T |
possibly damaging |
Het |
Btnl9 |
T |
C |
11: 49,071,409 (GRCm39) |
D138G |
probably benign |
Het |
Cep135 |
T |
A |
5: 76,788,829 (GRCm39) |
*1141K |
probably null |
Het |
Ctnnd2 |
A |
T |
15: 30,480,974 (GRCm39) |
Q74L |
probably damaging |
Het |
Dixdc1 |
A |
T |
9: 50,606,803 (GRCm39) |
I271N |
possibly damaging |
Het |
Dlec1 |
A |
G |
9: 118,957,182 (GRCm39) |
|
probably null |
Het |
Dnah9 |
C |
A |
11: 66,016,061 (GRCm39) |
|
probably benign |
Het |
Dop1a |
A |
T |
9: 86,404,920 (GRCm39) |
Y275F |
probably damaging |
Het |
Dysf |
T |
A |
6: 84,187,811 (GRCm39) |
*2105R |
probably null |
Het |
Eif4a1 |
A |
T |
11: 69,563,129 (GRCm39) |
D25E |
possibly damaging |
Het |
Fras1 |
T |
A |
5: 96,883,139 (GRCm39) |
I2557N |
probably damaging |
Het |
Gm10717 |
C |
T |
9: 3,025,616 (GRCm39) |
S67L |
probably benign |
Het |
Gm12253 |
G |
T |
11: 58,325,727 (GRCm39) |
|
probably null |
Het |
Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
Hsd17b7 |
A |
G |
1: 169,787,035 (GRCm39) |
V254A |
probably benign |
Het |
Kif21a |
T |
A |
15: 90,840,633 (GRCm39) |
D143V |
probably damaging |
Het |
Lrrc9 |
T |
C |
12: 72,557,186 (GRCm39) |
V1417A |
possibly damaging |
Het |
Macf1 |
C |
T |
4: 123,274,237 (GRCm39) |
A4926T |
possibly damaging |
Het |
Mef2a |
A |
C |
7: 66,914,620 (GRCm39) |
S91R |
probably damaging |
Het |
Myh7 |
A |
G |
14: 55,222,916 (GRCm39) |
|
probably null |
Het |
Or6c65 |
T |
A |
10: 129,603,973 (GRCm39) |
F203I |
probably benign |
Het |
Pbx2 |
A |
G |
17: 34,813,024 (GRCm39) |
D160G |
probably damaging |
Het |
Pcdhb17 |
T |
C |
18: 37,619,790 (GRCm39) |
F527L |
probably benign |
Het |
Ppm1b |
T |
C |
17: 85,301,489 (GRCm39) |
L123P |
probably damaging |
Het |
Ppm1k |
T |
A |
6: 57,499,813 (GRCm39) |
K154N |
probably benign |
Het |
Ppp2r1a |
T |
G |
17: 21,185,731 (GRCm39) |
*590G |
probably null |
Het |
Raver1 |
A |
T |
9: 20,990,536 (GRCm39) |
L589Q |
probably damaging |
Het |
Rrbp1 |
A |
G |
2: 143,832,081 (GRCm39) |
S29P |
probably damaging |
Het |
Senp5 |
A |
G |
16: 31,784,634 (GRCm39) |
Y673H |
probably damaging |
Het |
Serpina3j |
T |
A |
12: 104,281,473 (GRCm39) |
|
probably benign |
Het |
Serpinc1 |
A |
G |
1: 160,817,116 (GRCm39) |
E70G |
probably damaging |
Het |
Sp140l2 |
A |
G |
1: 85,231,907 (GRCm39) |
|
probably benign |
Het |
Stag3 |
A |
G |
5: 138,287,492 (GRCm39) |
Q139R |
probably damaging |
Het |
Sva |
T |
A |
6: 42,019,104 (GRCm39) |
H91Q |
probably benign |
Het |
Tmem263 |
C |
T |
10: 84,950,295 (GRCm39) |
Q29* |
probably null |
Het |
Tpp1 |
T |
C |
7: 105,400,857 (GRCm39) |
N57D |
probably benign |
Het |
Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
Vmn2r27 |
T |
A |
6: 124,177,484 (GRCm39) |
I507L |
probably benign |
Het |
Wdr11 |
A |
T |
7: 129,234,046 (GRCm39) |
|
probably null |
Het |
Zfp236 |
C |
T |
18: 82,700,344 (GRCm39) |
E42K |
probably damaging |
Het |
|
Other mutations in Cyp2j13 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00470:Cyp2j13
|
APN |
4 |
95,950,275 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01511:Cyp2j13
|
APN |
4 |
95,965,552 (GRCm39) |
missense |
possibly damaging |
0.79 |
IGL01540:Cyp2j13
|
APN |
4 |
95,956,959 (GRCm39) |
splice site |
probably benign |
|
IGL03124:Cyp2j13
|
APN |
4 |
95,950,159 (GRCm39) |
missense |
possibly damaging |
0.78 |
IGL03389:Cyp2j13
|
APN |
4 |
95,956,558 (GRCm39) |
missense |
probably damaging |
1.00 |
R0671:Cyp2j13
|
UTSW |
4 |
95,959,932 (GRCm39) |
missense |
probably damaging |
0.97 |
R1351:Cyp2j13
|
UTSW |
4 |
95,945,155 (GRCm39) |
missense |
probably benign |
0.00 |
R1510:Cyp2j13
|
UTSW |
4 |
95,950,209 (GRCm39) |
missense |
possibly damaging |
0.48 |
R1708:Cyp2j13
|
UTSW |
4 |
95,950,304 (GRCm39) |
missense |
probably damaging |
0.99 |
R2327:Cyp2j13
|
UTSW |
4 |
95,947,344 (GRCm39) |
missense |
possibly damaging |
0.50 |
R3834:Cyp2j13
|
UTSW |
4 |
95,944,794 (GRCm39) |
critical splice donor site |
probably null |
|
R4643:Cyp2j13
|
UTSW |
4 |
95,945,161 (GRCm39) |
missense |
possibly damaging |
0.62 |
R4867:Cyp2j13
|
UTSW |
4 |
95,947,235 (GRCm39) |
missense |
possibly damaging |
0.68 |
R4900:Cyp2j13
|
UTSW |
4 |
95,947,280 (GRCm39) |
missense |
probably damaging |
1.00 |
R5175:Cyp2j13
|
UTSW |
4 |
95,956,452 (GRCm39) |
missense |
possibly damaging |
0.55 |
R5291:Cyp2j13
|
UTSW |
4 |
95,956,566 (GRCm39) |
missense |
probably damaging |
1.00 |
R5770:Cyp2j13
|
UTSW |
4 |
95,965,669 (GRCm39) |
missense |
probably benign |
0.23 |
R5837:Cyp2j13
|
UTSW |
4 |
95,959,919 (GRCm39) |
missense |
probably damaging |
0.98 |
R5912:Cyp2j13
|
UTSW |
4 |
95,945,079 (GRCm39) |
missense |
probably damaging |
1.00 |
R6283:Cyp2j13
|
UTSW |
4 |
95,945,074 (GRCm39) |
missense |
possibly damaging |
0.89 |
R6362:Cyp2j13
|
UTSW |
4 |
95,959,932 (GRCm39) |
missense |
probably damaging |
0.97 |
R6627:Cyp2j13
|
UTSW |
4 |
95,947,343 (GRCm39) |
missense |
probably damaging |
0.96 |
R7001:Cyp2j13
|
UTSW |
4 |
95,945,112 (GRCm39) |
missense |
probably damaging |
1.00 |
R7356:Cyp2j13
|
UTSW |
4 |
95,965,655 (GRCm39) |
missense |
probably benign |
0.23 |
R7620:Cyp2j13
|
UTSW |
4 |
95,944,899 (GRCm39) |
missense |
probably benign |
0.25 |
R8717:Cyp2j13
|
UTSW |
4 |
95,933,777 (GRCm39) |
missense |
probably benign |
0.06 |
R8810:Cyp2j13
|
UTSW |
4 |
95,945,153 (GRCm39) |
missense |
probably benign |
0.30 |
R8850:Cyp2j13
|
UTSW |
4 |
95,956,428 (GRCm39) |
missense |
probably benign |
0.09 |
R8981:Cyp2j13
|
UTSW |
4 |
95,965,527 (GRCm39) |
missense |
possibly damaging |
0.87 |
R9359:Cyp2j13
|
UTSW |
4 |
95,950,170 (GRCm39) |
missense |
probably damaging |
1.00 |
R9595:Cyp2j13
|
UTSW |
4 |
95,933,797 (GRCm39) |
nonsense |
probably null |
|
|
Posted On |
2014-05-07 |