Incidental Mutation 'R6748:Cyp2j8'
| ID |
530635 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cyp2j8
|
| Ensembl Gene |
ENSMUSG00000082932 |
| Gene Name |
cytochrome P450, family 2, subfamily j, polypeptide 8 |
| Synonyms |
OTTMUSG00000007938, Cyp2j8-ps |
| MMRRC Submission |
044865-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.055)
|
| Stock # |
R6748 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
96332833-96395623 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 96363782 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 294
(T294S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134591
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000124729]
|
| AlphaFold |
G3UZ38 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000124729
AA Change: T294S
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000134591
Gene: ENSMUSG00000082932
AA Change: T294S
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
13 |
35 |
N/A |
INTRINSIC |
|
Pfam:p450
|
44 |
500 |
1.2e-134 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aff3 |
C |
A |
1: 38,574,327 (GRCm39) |
R178I |
probably damaging |
Het |
| Agr3 |
A |
G |
12: 35,997,594 (GRCm39) |
|
probably null |
Het |
| Aoc1 |
C |
T |
6: 48,883,228 (GRCm39) |
T368I |
possibly damaging |
Het |
| Aph1c |
A |
G |
9: 66,740,577 (GRCm39) |
S50P |
probably damaging |
Het |
| Arhgap30 |
A |
G |
1: 171,232,378 (GRCm39) |
E341G |
possibly damaging |
Het |
| Atp8b3 |
A |
T |
10: 80,361,058 (GRCm39) |
M926K |
possibly damaging |
Het |
| C1qtnf9 |
A |
G |
14: 61,017,276 (GRCm39) |
N269D |
probably damaging |
Het |
| Cdc42bpb |
T |
C |
12: 111,261,273 (GRCm39) |
|
probably benign |
Het |
| Clec4a1 |
T |
C |
6: 122,910,856 (GRCm39) |
I237T |
possibly damaging |
Het |
| Clpx |
A |
G |
9: 65,217,441 (GRCm39) |
N3S |
probably benign |
Het |
| Col19a1 |
A |
G |
1: 24,573,151 (GRCm39) |
I207T |
unknown |
Het |
| Dnah1 |
A |
G |
14: 31,021,945 (GRCm39) |
I1186T |
probably damaging |
Het |
| Dnhd1 |
T |
G |
7: 105,369,844 (GRCm39) |
V4423G |
probably benign |
Het |
| Dock4 |
A |
T |
12: 40,754,465 (GRCm39) |
I485F |
probably benign |
Het |
| Drd2 |
T |
A |
9: 49,314,502 (GRCm39) |
C244* |
probably null |
Het |
| Frmpd1 |
T |
A |
4: 45,274,397 (GRCm39) |
I435K |
probably benign |
Het |
| Fzd5 |
A |
G |
1: 64,774,723 (GRCm39) |
M346T |
possibly damaging |
Het |
| Gc |
T |
C |
5: 89,583,431 (GRCm39) |
T371A |
probably benign |
Het |
| Gm12185 |
T |
A |
11: 48,807,123 (GRCm39) |
T23S |
possibly damaging |
Het |
| Hbq1a |
A |
G |
11: 32,250,169 (GRCm39) |
|
probably null |
Het |
| Herc1 |
TCCC |
TCC |
9: 66,408,470 (GRCm39) |
|
probably null |
Het |
| Il1rap |
A |
T |
16: 26,541,106 (GRCm39) |
N449I |
probably benign |
Het |
| Itgb5 |
T |
A |
16: 33,719,667 (GRCm39) |
D279E |
probably damaging |
Het |
| Mat2b |
T |
A |
11: 40,571,021 (GRCm39) |
I268F |
probably benign |
Het |
| Mtor |
T |
C |
4: 148,634,641 (GRCm39) |
F2421L |
probably damaging |
Het |
| Myo5b |
G |
A |
18: 74,834,574 (GRCm39) |
R878Q |
possibly damaging |
Het |
| Nkx2-6 |
A |
G |
14: 69,412,555 (GRCm39) |
D241G |
probably benign |
Het |
| Or4f14 |
T |
A |
2: 111,742,702 (GRCm39) |
N191I |
possibly damaging |
Het |
| Or5h23 |
T |
A |
16: 58,906,253 (GRCm39) |
M198L |
probably benign |
Het |
| Pcdhb22 |
A |
C |
18: 37,651,799 (GRCm39) |
D89A |
probably damaging |
Het |
| Pcnx2 |
C |
T |
8: 126,577,074 (GRCm39) |
R986Q |
probably damaging |
Het |
| Plxna2 |
A |
G |
1: 194,476,490 (GRCm39) |
|
probably null |
Het |
| Ppwd1 |
A |
T |
13: 104,344,538 (GRCm39) |
Y527* |
probably null |
Het |
| Pramel35 |
T |
C |
5: 94,000,072 (GRCm39) |
W38R |
probably benign |
Het |
| Rnf126 |
A |
G |
10: 79,597,970 (GRCm39) |
L131P |
probably benign |
Het |
| Rsl1 |
T |
A |
13: 67,330,688 (GRCm39) |
C379S |
probably benign |
Het |
| Sec23b |
A |
G |
2: 144,408,714 (GRCm39) |
Y133C |
probably damaging |
Het |
| Slc25a24 |
T |
A |
3: 109,056,823 (GRCm39) |
V112D |
possibly damaging |
Het |
| Slc35f3 |
A |
T |
8: 127,121,377 (GRCm39) |
R413* |
probably null |
Het |
| Tas1r2 |
T |
C |
4: 139,396,922 (GRCm39) |
F754L |
probably damaging |
Het |
| Tbc1d14 |
A |
G |
5: 36,652,598 (GRCm39) |
S615P |
probably damaging |
Het |
| Ttc17 |
T |
C |
2: 94,216,447 (GRCm39) |
K80R |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,576,428 (GRCm39) |
T24822A |
possibly damaging |
Het |
| Vmn1r222 |
C |
A |
13: 23,417,117 (GRCm39) |
R32L |
probably benign |
Het |
| Zfp354b |
G |
A |
11: 50,813,659 (GRCm39) |
T422M |
probably damaging |
Het |
| Zfp407 |
G |
A |
18: 84,226,955 (GRCm39) |
T2218M |
probably damaging |
Het |
|
| Other mutations in Cyp2j8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00088:Cyp2j8
|
APN |
4 |
96,392,079 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL00418:Cyp2j8
|
APN |
4 |
96,332,853 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
IGL01577:Cyp2j8
|
APN |
4 |
96,367,308 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL01629:Cyp2j8
|
APN |
4 |
96,387,840 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01928:Cyp2j8
|
APN |
4 |
96,358,713 (GRCm39) |
splice site |
probably benign |
|
|
IGL01978:Cyp2j8
|
APN |
4 |
96,392,246 (GRCm39) |
splice site |
probably null |
|
|
IGL02053:Cyp2j8
|
APN |
4 |
96,358,891 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02500:Cyp2j8
|
APN |
4 |
96,358,887 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02947:Cyp2j8
|
APN |
4 |
96,358,815 (GRCm39) |
missense |
probably damaging |
1.00 |
|
cyprus
|
UTSW |
4 |
96,387,840 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0558:Cyp2j8
|
UTSW |
4 |
96,332,871 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0718:Cyp2j8
|
UTSW |
4 |
96,389,433 (GRCm39) |
missense |
probably benign |
|
|
R1553:Cyp2j8
|
UTSW |
4 |
96,363,794 (GRCm39) |
missense |
probably benign |
|
|
R1557:Cyp2j8
|
UTSW |
4 |
96,358,713 (GRCm39) |
splice site |
probably benign |
|
|
R1632:Cyp2j8
|
UTSW |
4 |
96,335,561 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1708:Cyp2j8
|
UTSW |
4 |
96,387,832 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2119:Cyp2j8
|
UTSW |
4 |
96,395,438 (GRCm39) |
missense |
probably benign |
|
|
R2220:Cyp2j8
|
UTSW |
4 |
96,332,862 (GRCm39) |
missense |
probably benign |
0.03 |
|
R3123:Cyp2j8
|
UTSW |
4 |
96,389,450 (GRCm39) |
splice site |
probably benign |
|
|
R3735:Cyp2j8
|
UTSW |
4 |
96,332,836 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3736:Cyp2j8
|
UTSW |
4 |
96,332,836 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4326:Cyp2j8
|
UTSW |
4 |
96,395,566 (GRCm39) |
missense |
probably benign |
0.10 |
|
R4327:Cyp2j8
|
UTSW |
4 |
96,395,566 (GRCm39) |
missense |
probably benign |
0.10 |
|
R4762:Cyp2j8
|
UTSW |
4 |
96,358,886 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4901:Cyp2j8
|
UTSW |
4 |
96,367,323 (GRCm39) |
missense |
probably benign |
0.16 |
|
R4960:Cyp2j8
|
UTSW |
4 |
96,395,614 (GRCm39) |
missense |
probably benign |
|
|
R5260:Cyp2j8
|
UTSW |
4 |
96,389,301 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R5562:Cyp2j8
|
UTSW |
4 |
96,358,890 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5596:Cyp2j8
|
UTSW |
4 |
96,395,578 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5741:Cyp2j8
|
UTSW |
4 |
96,332,880 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5825:Cyp2j8
|
UTSW |
4 |
96,395,451 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5903:Cyp2j8
|
UTSW |
4 |
96,395,514 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R6122:Cyp2j8
|
UTSW |
4 |
96,332,877 (GRCm39) |
missense |
probably benign |
|
|
R6232:Cyp2j8
|
UTSW |
4 |
96,395,427 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6931:Cyp2j8
|
UTSW |
4 |
96,333,018 (GRCm39) |
splice site |
probably null |
|
|
R7000:Cyp2j8
|
UTSW |
4 |
96,335,588 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7183:Cyp2j8
|
UTSW |
4 |
96,367,418 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7186:Cyp2j8
|
UTSW |
4 |
96,363,787 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7348:Cyp2j8
|
UTSW |
4 |
96,332,877 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7575:Cyp2j8
|
UTSW |
4 |
96,358,785 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R7648:Cyp2j8
|
UTSW |
4 |
96,387,840 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7975:Cyp2j8
|
UTSW |
4 |
96,358,776 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R7993:Cyp2j8
|
UTSW |
4 |
96,335,456 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8878:Cyp2j8
|
UTSW |
4 |
96,358,807 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTTCTATCTTCTGGCCACATGTAAG -3'
(R):5'- CCAATTTCAAGACTTCGTTCTTGAG -3'
Sequencing Primer
(F):5'- GGCCACATGTAAGTAAAAATGTTCAG -3'
(R):5'- TAGCCTCTATCCAGGACAGATATGAG -3'
|
| Posted On |
2018-08-01 |
Incidental Mutation