Incidental Mutation 'R8864:Cyp2j12'
| ID |
675803 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cyp2j12
|
| Ensembl Gene |
ENSMUSG00000081225 |
| Gene Name |
cytochrome P450, family 2, subfamily j, polypeptide 12 |
| Synonyms |
OTTMUSG00000007939, Cyp2j12-ps |
| MMRRC Submission |
068680-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.064)
|
| Stock # |
R8864 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
95987555-96029389 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 96009750 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 203
(Y203C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133811
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000097972]
[ENSMUST00000121694]
|
| AlphaFold |
G3UXT0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000097972
AA Change: Y203C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000133811
Gene: ENSMUSG00000081225
AA Change: Y203C
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
13 |
35 |
N/A |
INTRINSIC |
|
Pfam:p450
|
44 |
498 |
8.2e-139 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000121694
|
| SMART Domains |
Protein: ENSMUSP00000134394
Gene: ENSMUSG00000081225
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
37 |
N/A |
INTRINSIC |
|
SCOP:d1cpt__
|
39 |
70 |
2e-8 |
SMART |
|
| Meta Mutation Damage Score |
0.8438 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
100% (41/41) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts19 |
T |
A |
18: 59,023,497 (GRCm39) |
C297* |
probably null |
Het |
| Adamts3 |
T |
C |
5: 89,854,981 (GRCm39) |
|
probably benign |
Het |
| Best2 |
T |
A |
8: 85,735,942 (GRCm39) |
M331L |
probably benign |
Het |
| Cachd1 |
T |
A |
4: 100,852,026 (GRCm39) |
S1207R |
probably damaging |
Het |
| Cacna2d3 |
G |
T |
14: 29,055,735 (GRCm39) |
N298K |
probably damaging |
Het |
| Dnah8 |
T |
C |
17: 30,981,616 (GRCm39) |
I3046T |
possibly damaging |
Het |
| Eif3b |
T |
C |
5: 140,412,287 (GRCm39) |
V252A |
probably benign |
Het |
| Ergic2 |
A |
G |
6: 148,083,393 (GRCm39) |
V355A |
probably benign |
Het |
| F13a1 |
C |
T |
13: 37,061,753 (GRCm39) |
G670D |
probably damaging |
Het |
| Gfpt1 |
T |
A |
6: 87,031,605 (GRCm39) |
D82E |
probably benign |
Het |
| Ggnbp2 |
G |
A |
11: 84,730,902 (GRCm39) |
R376C |
probably damaging |
Het |
| Grn |
T |
C |
11: 102,327,211 (GRCm39) |
F191L |
unknown |
Het |
| Ighv1-16 |
C |
T |
12: 114,629,619 (GRCm39) |
G56D |
probably benign |
Het |
| Jrkl |
T |
C |
9: 13,244,326 (GRCm39) |
D445G |
probably benign |
Het |
| Loxl3 |
A |
G |
6: 83,012,739 (GRCm39) |
T93A |
probably damaging |
Het |
| Lrp1b |
C |
T |
2: 41,002,718 (GRCm39) |
A2094T |
|
Het |
| Lrriq3 |
T |
A |
3: 154,893,575 (GRCm39) |
D425E |
probably damaging |
Het |
| Majin |
T |
C |
19: 6,261,650 (GRCm39) |
V55A |
possibly damaging |
Het |
| Mapk8ip3 |
A |
T |
17: 25,118,492 (GRCm39) |
V1192E |
probably damaging |
Het |
| Mdga1 |
T |
C |
17: 30,150,295 (GRCm39) |
S106G |
unknown |
Het |
| Mtch2 |
C |
T |
2: 90,685,274 (GRCm39) |
R135* |
probably null |
Het |
| Naip1 |
T |
C |
13: 100,562,828 (GRCm39) |
N779S |
possibly damaging |
Het |
| Nfia |
T |
C |
4: 97,951,382 (GRCm39) |
V403A |
possibly damaging |
Het |
| Npas4 |
C |
A |
19: 5,038,556 (GRCm39) |
D121Y |
probably damaging |
Het |
| Rab3gap1 |
C |
T |
1: 127,837,630 (GRCm39) |
R231W |
probably damaging |
Het |
| Rangap1 |
C |
G |
15: 81,610,270 (GRCm39) |
|
probably benign |
Het |
| Rgs5 |
T |
A |
1: 169,517,990 (GRCm39) |
F75I |
probably benign |
Het |
| Rnf19a |
T |
C |
15: 36,265,452 (GRCm39) |
D215G |
possibly damaging |
Het |
| Rwdd4a |
A |
T |
8: 48,000,876 (GRCm39) |
|
probably benign |
Het |
| Setd5 |
G |
A |
6: 113,088,469 (GRCm39) |
R199H |
probably damaging |
Het |
| Spata31e1 |
T |
C |
13: 49,940,988 (GRCm39) |
N241D |
probably benign |
Het |
| Spef2 |
T |
C |
15: 9,599,833 (GRCm39) |
Q2004R |
unknown |
Het |
| Syne1 |
T |
C |
10: 5,370,473 (GRCm39) |
K236E |
probably benign |
Het |
| Tas2r104 |
A |
G |
6: 131,662,632 (GRCm39) |
F26L |
possibly damaging |
Het |
| Tbc1d32 |
T |
A |
10: 55,963,655 (GRCm39) |
E954D |
probably benign |
Het |
| Tenm2 |
A |
C |
11: 35,918,022 (GRCm39) |
S1914A |
possibly damaging |
Het |
| Tln2 |
G |
T |
9: 67,237,834 (GRCm39) |
Y32* |
probably null |
Het |
| Tnc |
C |
T |
4: 63,911,296 (GRCm39) |
R1425H |
probably damaging |
Het |
| Unc13b |
T |
C |
4: 43,174,724 (GRCm39) |
C1851R |
unknown |
Het |
| Wapl |
T |
A |
14: 34,414,159 (GRCm39) |
D340E |
probably benign |
Het |
| Zfp74 |
T |
C |
7: 29,634,235 (GRCm39) |
E491G |
probably damaging |
Het |
|
| Other mutations in Cyp2j12 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00580:Cyp2j12
|
APN |
4 |
95,994,826 (GRCm39) |
splice site |
probably benign |
|
|
IGL01655:Cyp2j12
|
APN |
4 |
96,003,814 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
IGL01723:Cyp2j12
|
APN |
4 |
95,990,363 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
IGL01737:Cyp2j12
|
APN |
4 |
96,010,895 (GRCm39) |
makesense |
probably null |
|
|
IGL01936:Cyp2j12
|
APN |
4 |
96,021,306 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01962:Cyp2j12
|
APN |
4 |
95,987,999 (GRCm39) |
missense |
probably benign |
0.10 |
|
IGL02691:Cyp2j12
|
APN |
4 |
96,021,231 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0255:Cyp2j12
|
UTSW |
4 |
96,029,262 (GRCm39) |
missense |
probably benign |
0.38 |
|
R0613:Cyp2j12
|
UTSW |
4 |
95,990,316 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0827:Cyp2j12
|
UTSW |
4 |
96,001,099 (GRCm39) |
splice site |
probably benign |
|
|
R1016:Cyp2j12
|
UTSW |
4 |
96,001,102 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1251:Cyp2j12
|
UTSW |
4 |
96,003,903 (GRCm39) |
nonsense |
probably null |
|
|
R1753:Cyp2j12
|
UTSW |
4 |
96,009,669 (GRCm39) |
splice site |
probably null |
|
|
R2258:Cyp2j12
|
UTSW |
4 |
96,021,315 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4471:Cyp2j12
|
UTSW |
4 |
96,021,306 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4559:Cyp2j12
|
UTSW |
4 |
96,001,194 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4702:Cyp2j12
|
UTSW |
4 |
96,021,230 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4923:Cyp2j12
|
UTSW |
4 |
95,990,346 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R4928:Cyp2j12
|
UTSW |
4 |
95,990,388 (GRCm39) |
splice site |
probably null |
|
|
R5591:Cyp2j12
|
UTSW |
4 |
96,029,359 (GRCm39) |
start gained |
probably benign |
|
|
R5897:Cyp2j12
|
UTSW |
4 |
95,990,279 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6176:Cyp2j12
|
UTSW |
4 |
96,029,074 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6942:Cyp2j12
|
UTSW |
4 |
96,001,101 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7422:Cyp2j12
|
UTSW |
4 |
96,029,222 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7453:Cyp2j12
|
UTSW |
4 |
95,990,363 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7839:Cyp2j12
|
UTSW |
4 |
95,987,893 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8437:Cyp2j12
|
UTSW |
4 |
95,987,899 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8445:Cyp2j12
|
UTSW |
4 |
96,021,259 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R8683:Cyp2j12
|
UTSW |
4 |
96,009,805 (GRCm39) |
missense |
probably benign |
0.41 |
|
R8701:Cyp2j12
|
UTSW |
4 |
96,009,810 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R8924:Cyp2j12
|
UTSW |
4 |
95,994,685 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9330:Cyp2j12
|
UTSW |
4 |
95,994,791 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTATGTTGTTTGAAAGAATCCCC -3'
(R):5'- GGGCTGTGGCAAGAGCTT -3'
Sequencing Primer
(F):5'- TGTTTGAAAGAATCCCCCATCAAAG -3'
(R):5'- GGGAGGGAGGGAGAAGAGAG -3'
|
| Posted On |
2021-07-15 |
Incidental Mutation