Incidental Mutation 'R7620:Cyp2j13'
ID |
589092 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cyp2j13
|
Ensembl Gene |
ENSMUSG00000028571 |
Gene Name |
cytochrome P450, family 2, subfamily j, polypeptide 13 |
Synonyms |
|
MMRRC Submission |
045687-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.057)
|
Stock # |
R7620 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
95930897-95965803 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 95944899 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Leucine
at position 410
(H410L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000030305
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030305]
[ENSMUST00000097973]
[ENSMUST00000107078]
|
AlphaFold |
Q3UNV4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000030305
AA Change: H410L
PolyPhen 2
Score 0.248 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000030305 Gene: ENSMUSG00000028571 AA Change: H410L
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
|
SMART Domains |
Protein: ENSMUSP00000095587 Gene: ENSMUSG00000028571
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 |
|
Meta Mutation Damage Score |
0.1829 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
Validation Efficiency |
98% (43/44) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adnp2 |
T |
C |
18: 80,173,702 (GRCm39) |
T236A |
probably damaging |
Het |
Alkbh7 |
A |
G |
17: 57,304,551 (GRCm39) |
Y63C |
probably damaging |
Het |
Calhm6 |
A |
T |
10: 34,003,614 (GRCm39) |
C98S |
probably damaging |
Het |
Ccr9 |
T |
A |
9: 123,608,911 (GRCm39) |
C198S |
probably damaging |
Het |
Chil3 |
T |
A |
3: 106,067,751 (GRCm39) |
D138V |
probably damaging |
Het |
Cntd1 |
A |
T |
11: 101,174,240 (GRCm39) |
E66D |
probably benign |
Het |
Cpz |
A |
T |
5: 35,669,194 (GRCm39) |
N312K |
possibly damaging |
Het |
Crat |
A |
G |
2: 30,298,090 (GRCm39) |
I203T |
probably damaging |
Het |
Cyp39a1 |
G |
A |
17: 44,036,544 (GRCm39) |
|
probably null |
Het |
Dnah1 |
A |
T |
14: 31,025,863 (GRCm39) |
I828N |
possibly damaging |
Het |
Dnah7b |
A |
G |
1: 46,307,794 (GRCm39) |
D3036G |
probably damaging |
Het |
Dnpep |
A |
G |
1: 75,290,092 (GRCm39) |
V295A |
probably benign |
Het |
Efcab3 |
T |
A |
11: 104,722,969 (GRCm39) |
S1942T |
possibly damaging |
Het |
Fam111a |
A |
G |
19: 12,565,301 (GRCm39) |
D394G |
possibly damaging |
Het |
Fat1 |
A |
G |
8: 45,462,887 (GRCm39) |
K1235E |
possibly damaging |
Het |
Gabre |
C |
A |
X: 71,313,865 (GRCm39) |
Q311H |
unknown |
Het |
Garem1 |
T |
C |
18: 21,262,898 (GRCm39) |
S639G |
probably benign |
Het |
Gsdma |
A |
G |
11: 98,557,429 (GRCm39) |
T123A |
probably benign |
Het |
Iqcb1 |
A |
G |
16: 36,676,772 (GRCm39) |
N369S |
probably benign |
Het |
Lepr |
G |
T |
4: 101,609,270 (GRCm39) |
V286F |
probably benign |
Het |
Lgsn |
T |
C |
1: 31,242,461 (GRCm39) |
M181T |
probably benign |
Het |
Mapk15 |
T |
G |
15: 75,870,697 (GRCm39) |
S512A |
probably benign |
Het |
Mcm3ap |
A |
G |
10: 76,306,267 (GRCm39) |
T127A |
probably benign |
Het |
Msto1 |
A |
G |
3: 88,818,614 (GRCm39) |
F315L |
possibly damaging |
Het |
Myo5a |
T |
A |
9: 75,071,418 (GRCm39) |
D673E |
probably benign |
Het |
Nup88 |
G |
C |
11: 70,860,605 (GRCm39) |
P58R |
probably benign |
Het |
Or4x12-ps1 |
A |
C |
2: 89,915,977 (GRCm39) |
I276R |
probably damaging |
Het |
Or52e15 |
C |
A |
7: 104,645,962 (GRCm39) |
V50L |
possibly damaging |
Het |
Pierce1 |
TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC |
TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC |
2: 28,356,122 (GRCm39) |
|
probably benign |
Het |
Ppp1r18 |
T |
C |
17: 36,178,191 (GRCm39) |
V22A |
probably benign |
Het |
Psme1 |
T |
A |
14: 55,817,797 (GRCm39) |
C101* |
probably null |
Het |
Rapgef4 |
G |
T |
2: 72,059,422 (GRCm39) |
C743F |
probably damaging |
Het |
Rictor |
C |
T |
15: 6,801,635 (GRCm39) |
S441L |
probably benign |
Het |
Rnmt |
T |
A |
18: 68,447,105 (GRCm39) |
Y330N |
probably damaging |
Het |
Skint10 |
T |
A |
4: 112,573,014 (GRCm39) |
M261L |
possibly damaging |
Het |
Slc35b1 |
T |
C |
11: 95,278,691 (GRCm39) |
Y192H |
probably damaging |
Het |
Socs3 |
A |
G |
11: 117,858,396 (GRCm39) |
Y221H |
probably damaging |
Het |
Spink12 |
A |
G |
18: 44,237,684 (GRCm39) |
|
probably benign |
Het |
Sspo |
T |
C |
6: 48,444,020 (GRCm39) |
|
probably null |
Het |
Trp73 |
G |
A |
4: 154,143,714 (GRCm39) |
Q551* |
probably null |
Het |
Vmn2r45 |
C |
T |
7: 8,486,222 (GRCm39) |
W355* |
probably null |
Het |
Wdr35 |
A |
G |
12: 9,066,042 (GRCm39) |
I678V |
probably benign |
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 |
|
IGL01923:Cyp2j13
|
APN |
4 |
95,950,294 (GRCm39) |
missense |
probably benign |
0.00 |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- TGGGCGGGCTTATCTGAAAC -3'
(R):5'- GCTGTTGTCCATGAAATTCTGAG -3'
Sequencing Primer
(F):5'- GCGGGCTTATCTGAAACAATGCC -3'
(R):5'- GGGCAATAGTGTCCCTCTGAATATTC -3'
|
Posted On |
2019-10-24 |