Incidental Mutation 'R6627:Cyp2j13'
| ID |
524850 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cyp2j13
|
| Ensembl Gene |
ENSMUSG00000028571 |
| Gene Name |
cytochrome P450, family 2, subfamily j, polypeptide 13 |
| Synonyms |
|
| MMRRC Submission |
044749-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.058)
|
| Stock # |
R6627 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
95930897-95965803 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 95947343 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 236
(T236I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102693
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030305]
[ENSMUST00000097973]
[ENSMUST00000107078]
|
| AlphaFold |
Q3UNV4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000030305
AA Change: T295I
PolyPhen 2
Score 0.885 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000030305
Gene: ENSMUSG00000028571
AA Change: T295I
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
10 |
32 |
N/A |
INTRINSIC |
|
Pfam:p450
|
44 |
499 |
6.7e-131 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000097973
AA Change: T295I
PolyPhen 2
Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000095587
Gene: ENSMUSG00000028571
AA Change: T295I
| 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 damaging
Transcript: ENSMUST00000107078
AA Change: T236I
PolyPhen 2
Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000102693
Gene: ENSMUSG00000028571
AA Change: T236I
| 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
AA Change: T50I
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000121962
Gene: ENSMUSG00000028571
AA Change: T50I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:p450
|
1 |
156 |
2.1e-50 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd29 |
T |
C |
18: 12,395,221 (GRCm39) |
N224S |
probably benign |
Het |
| Ccdc162 |
A |
G |
10: 41,539,181 (GRCm39) |
S396P |
probably damaging |
Het |
| Cd9 |
A |
G |
6: 125,439,375 (GRCm39) |
L119P |
possibly damaging |
Het |
| Cdk17 |
A |
C |
10: 93,068,274 (GRCm39) |
T311P |
probably damaging |
Het |
| Cep89 |
A |
G |
7: 35,127,172 (GRCm39) |
D511G |
possibly damaging |
Het |
| Coq3 |
T |
C |
4: 21,908,607 (GRCm39) |
V286A |
possibly damaging |
Het |
| Ddx46 |
T |
C |
13: 55,800,748 (GRCm39) |
V301A |
probably benign |
Het |
| Dnah10 |
A |
T |
5: 124,907,097 (GRCm39) |
I4209F |
probably damaging |
Het |
| E2f5 |
G |
A |
3: 14,668,917 (GRCm39) |
E270K |
probably benign |
Het |
| Elp1 |
A |
T |
4: 56,784,647 (GRCm39) |
|
probably null |
Het |
| Esp24 |
C |
T |
17: 39,350,952 (GRCm39) |
Q51* |
probably null |
Het |
| Fam168b |
C |
A |
1: 34,875,822 (GRCm39) |
G21V |
probably damaging |
Het |
| Fasn |
G |
T |
11: 120,709,753 (GRCm39) |
Q435K |
probably benign |
Het |
| Gpr17 |
T |
C |
18: 32,080,949 (GRCm39) |
Y38C |
probably damaging |
Het |
| Lfng |
T |
C |
5: 140,593,523 (GRCm39) |
V118A |
probably damaging |
Het |
| Maco1 |
A |
G |
4: 134,563,654 (GRCm39) |
V110A |
probably damaging |
Het |
| Muc5ac |
T |
C |
7: 141,362,427 (GRCm39) |
|
probably benign |
Het |
| Myh1 |
T |
G |
11: 67,105,835 (GRCm39) |
L1150R |
probably damaging |
Het |
| Plod3 |
T |
G |
5: 137,017,310 (GRCm39) |
I111S |
probably damaging |
Het |
| Sh2d4a |
T |
A |
8: 68,746,970 (GRCm39) |
V66D |
probably damaging |
Het |
| Simc1 |
T |
G |
13: 54,694,887 (GRCm39) |
L323V |
probably damaging |
Het |
| Thnsl2 |
A |
G |
6: 71,111,199 (GRCm39) |
I223T |
possibly damaging |
Het |
| Tmem203 |
T |
C |
2: 25,145,785 (GRCm39) |
|
probably null |
Het |
| Tmppe |
A |
G |
9: 114,234,553 (GRCm39) |
D284G |
probably damaging |
Het |
| Ube2s |
C |
T |
7: 4,813,581 (GRCm39) |
R61H |
possibly 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 |
|
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CATTTCTTCTGAACCCATTCTGG -3'
(R):5'- TGCGATGATCACCAACTCTCT -3'
Sequencing Primer
(F):5'- AACCCATTCTGGTTTGGTTAGAC -3'
(R):5'- CTCACAGTCAGCTATTGGATGGATC -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation