Incidental Mutation 'R5912:Cyp2j13'
| ID |
461050 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cyp2j13
|
| Ensembl Gene |
ENSMUSG00000028571 |
| Gene Name |
cytochrome P450, family 2, subfamily j, polypeptide 13 |
| Synonyms |
|
| MMRRC Submission |
044109-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.057)
|
| Stock # |
R5912 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
95930897-95965803 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 95945079 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 316
(N316K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102693
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030305]
[ENSMUST00000097973]
[ENSMUST00000107078]
|
| AlphaFold |
Q3UNV4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000030305
AA Change: N375K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000030305
Gene: ENSMUSG00000028571
AA Change: N375K
| 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: N375K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000095587
Gene: ENSMUSG00000028571
AA Change: N375K
| 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: N316K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000102693
Gene: ENSMUSG00000028571
AA Change: N316K
| 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 |
unknown
Transcript: ENSMUST00000132513
AA Change: N130K
|
| SMART Domains |
Protein: ENSMUSP00000121962
Gene: ENSMUSG00000028571
AA Change: N130K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:p450
|
1 |
156 |
2.1e-50 |
PFAM |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.8%
|
| Validation Efficiency |
100% (52/52) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5031439G07Rik |
A |
T |
15: 84,839,897 (GRCm39) |
C166S |
possibly damaging |
Het |
| Ahnak |
T |
A |
19: 8,989,267 (GRCm39) |
M3517K |
probably damaging |
Het |
| Asap2 |
T |
C |
12: 21,256,344 (GRCm39) |
V214A |
probably damaging |
Het |
| Atp13a4 |
A |
G |
16: 29,275,389 (GRCm39) |
V365A |
probably benign |
Het |
| Bivm |
G |
T |
1: 44,165,573 (GRCm39) |
G8* |
probably null |
Het |
| Cc2d2a |
A |
C |
5: 43,877,772 (GRCm39) |
D1043A |
probably damaging |
Het |
| Cdh2 |
A |
C |
18: 16,773,507 (GRCm39) |
I331S |
possibly damaging |
Het |
| Clip3 |
A |
C |
7: 29,998,295 (GRCm39) |
D247A |
probably benign |
Het |
| Csf3r |
A |
T |
4: 125,923,753 (GRCm39) |
I88F |
probably damaging |
Het |
| Dnah12 |
T |
A |
14: 26,491,965 (GRCm39) |
C1133* |
probably null |
Het |
| Glud1 |
G |
A |
14: 34,033,300 (GRCm39) |
|
probably null |
Het |
| Gm5805 |
A |
G |
15: 81,857,018 (GRCm39) |
|
noncoding transcript |
Het |
| Gsg1l2 |
G |
T |
11: 67,665,540 (GRCm39) |
|
probably null |
Het |
| Ikzf1 |
C |
A |
11: 11,698,464 (GRCm39) |
S105* |
probably null |
Het |
| Kif18b |
A |
G |
11: 102,803,817 (GRCm39) |
S448P |
probably benign |
Het |
| Klhl31 |
C |
A |
9: 77,563,012 (GRCm39) |
N592K |
probably damaging |
Het |
| Kmt2c |
A |
G |
5: 25,552,467 (GRCm39) |
F1239L |
possibly damaging |
Het |
| Lama5 |
A |
G |
2: 179,837,268 (GRCm39) |
Y1014H |
probably damaging |
Het |
| Macf1 |
A |
C |
4: 123,290,951 (GRCm39) |
L3980R |
probably damaging |
Het |
| Magi1 |
A |
T |
6: 93,685,126 (GRCm39) |
S524T |
possibly damaging |
Het |
| Nlrp4f |
A |
T |
13: 65,342,722 (GRCm39) |
Y308N |
probably damaging |
Het |
| Or1e33 |
A |
C |
11: 73,738,501 (GRCm39) |
I150R |
possibly damaging |
Het |
| Or3a1c |
A |
T |
11: 74,046,046 (GRCm39) |
E22V |
possibly damaging |
Het |
| Rfx5 |
G |
A |
3: 94,866,029 (GRCm39) |
|
probably benign |
Het |
| Scn1b |
C |
T |
7: 30,817,228 (GRCm39) |
V165M |
probably damaging |
Het |
| Sema4c |
A |
C |
1: 36,593,469 (GRCm39) |
V41G |
possibly damaging |
Het |
| Serpini1 |
G |
T |
3: 75,523,914 (GRCm39) |
G174V |
probably benign |
Het |
| Sh2b1 |
T |
C |
7: 126,070,642 (GRCm39) |
E353G |
probably damaging |
Het |
| Slc7a6 |
G |
T |
8: 106,906,289 (GRCm39) |
V174L |
probably benign |
Het |
| Smg1 |
A |
T |
7: 117,753,809 (GRCm39) |
|
probably benign |
Het |
| Spag9 |
A |
G |
11: 93,935,251 (GRCm39) |
N21D |
probably damaging |
Het |
| Spdye4c |
C |
T |
2: 128,437,994 (GRCm39) |
R245* |
probably null |
Het |
| Sulf1 |
A |
G |
1: 12,856,976 (GRCm39) |
|
probably benign |
Het |
| Swt1 |
A |
G |
1: 151,287,160 (GRCm39) |
S111P |
probably damaging |
Het |
| Syne2 |
G |
A |
12: 75,955,721 (GRCm39) |
|
probably null |
Het |
| Tanc1 |
T |
C |
2: 59,622,030 (GRCm39) |
V383A |
possibly damaging |
Het |
| Tbc1d10b |
G |
T |
7: 126,799,033 (GRCm39) |
A491E |
probably damaging |
Het |
| Tek |
A |
G |
4: 94,686,877 (GRCm39) |
T132A |
probably damaging |
Het |
| Traf3 |
A |
G |
12: 111,221,783 (GRCm39) |
I290V |
probably benign |
Het |
| Traf5 |
A |
G |
1: 191,730,030 (GRCm39) |
|
probably benign |
Het |
| Ttn |
A |
T |
2: 76,640,687 (GRCm39) |
I13687N |
probably damaging |
Het |
| Unc5c |
A |
G |
3: 141,494,767 (GRCm39) |
D415G |
probably damaging |
Het |
| Ust |
A |
G |
10: 8,173,825 (GRCm39) |
Y227H |
probably benign |
Het |
| Vmn2r100 |
A |
G |
17: 19,752,071 (GRCm39) |
N705D |
probably damaging |
Het |
| Wnk2 |
T |
C |
13: 49,214,250 (GRCm39) |
E1444G |
probably damaging |
Het |
| Ylpm1 |
C |
T |
12: 85,087,660 (GRCm39) |
P1148L |
probably damaging |
Het |
| Zbtb5 |
A |
G |
4: 44,993,750 (GRCm39) |
S545P |
probably benign |
Het |
| Zfp710 |
A |
G |
7: 79,731,222 (GRCm39) |
D133G |
probably benign |
Het |
| Zfp866 |
A |
T |
8: 70,218,934 (GRCm39) |
C229S |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GTGCAGTCAAATTGGTCATGAC -3'
(R):5'- TCTCACAATCAAGATGCTGGG -3'
Sequencing Primer
(F):5'- GTCATGACCACAGACCGCTAGG -3'
(R):5'- GCAAAGACGTTTGGAAGACAATTTC -3'
|
| Posted On |
2017-02-28 |
Incidental Mutation