Incidental Mutation 'R1351:Cyp2j13'
| ID |
156643 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cyp2j13
|
| Ensembl Gene |
ENSMUSG00000028571 |
| Gene Name |
cytochrome P450, family 2, subfamily j, polypeptide 13 |
| Synonyms |
|
| MMRRC Submission |
039416-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.057)
|
| Stock # |
R1351 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
95930897-95965803 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 95945155 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 291
(K291R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102693
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030305]
[ENSMUST00000097973]
[ENSMUST00000107078]
|
| AlphaFold |
Q3UNV4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030305
AA Change: K350R
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000030305
Gene: ENSMUSG00000028571
AA Change: K350R
| 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
AA Change: K350R
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000095587
Gene: ENSMUSG00000028571
AA Change: K350R
| 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
AA Change: K291R
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000102693
Gene: ENSMUSG00000028571
AA Change: K291R
| 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: K105R
|
| SMART Domains |
Protein: ENSMUSP00000121962
Gene: ENSMUSG00000028571
AA Change: K105R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:p450
|
1 |
156 |
2.1e-50 |
PFAM |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 95.0%
|
| Validation Efficiency |
100% (51/51) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgef26 |
A |
G |
3: 62,288,262 (GRCm39) |
E444G |
probably damaging |
Het |
| Astl |
G |
A |
2: 127,189,105 (GRCm39) |
V144M |
possibly damaging |
Het |
| AW146154 |
A |
T |
7: 41,129,878 (GRCm39) |
C413S |
probably damaging |
Het |
| Bicdl2 |
G |
A |
17: 23,886,519 (GRCm39) |
|
probably benign |
Het |
| Cacna1h |
G |
T |
17: 25,610,925 (GRCm39) |
S624R |
probably benign |
Het |
| Car9 |
G |
T |
4: 43,512,439 (GRCm39) |
|
probably null |
Het |
| Cep126 |
C |
T |
9: 8,100,087 (GRCm39) |
E816K |
probably damaging |
Het |
| Defb26 |
A |
T |
2: 152,349,737 (GRCm39) |
M181K |
unknown |
Het |
| Dicer1 |
G |
A |
12: 104,695,401 (GRCm39) |
R177C |
probably damaging |
Het |
| Eif4g2 |
A |
G |
7: 110,673,287 (GRCm39) |
Y831H |
probably damaging |
Het |
| Ermap |
C |
T |
4: 119,038,558 (GRCm39) |
|
probably null |
Het |
| Fcamr |
C |
T |
1: 130,740,757 (GRCm39) |
T392I |
possibly damaging |
Het |
| Fgf3 |
T |
C |
7: 144,394,517 (GRCm39) |
|
probably benign |
Het |
| Gpr162 |
T |
C |
6: 124,838,161 (GRCm39) |
Y163C |
probably damaging |
Het |
| Gprc5d |
T |
C |
6: 135,093,230 (GRCm39) |
R226G |
possibly damaging |
Het |
| Hapln3 |
A |
C |
7: 78,771,708 (GRCm39) |
S60R |
probably damaging |
Het |
| Hif1a |
T |
C |
12: 73,987,235 (GRCm39) |
S443P |
probably benign |
Het |
| Irf2bpl |
A |
G |
12: 86,929,398 (GRCm39) |
M425T |
probably benign |
Het |
| Lrrc39 |
G |
T |
3: 116,359,469 (GRCm39) |
A5S |
possibly damaging |
Het |
| Mbtps1 |
A |
G |
8: 120,244,901 (GRCm39) |
L850S |
possibly damaging |
Het |
| Mios |
T |
A |
6: 8,228,120 (GRCm39) |
M679K |
possibly damaging |
Het |
| Mocos |
T |
C |
18: 24,793,107 (GRCm39) |
F68S |
probably damaging |
Het |
| Nuf2 |
T |
C |
1: 169,338,118 (GRCm39) |
|
probably benign |
Het |
| Or51k1 |
A |
G |
7: 103,661,523 (GRCm39) |
Y129H |
possibly damaging |
Het |
| Orc1 |
T |
A |
4: 108,452,564 (GRCm39) |
D146E |
probably benign |
Het |
| Pcdhb22 |
T |
C |
18: 37,651,627 (GRCm39) |
F32L |
probably benign |
Het |
| Pde4d |
G |
T |
13: 110,087,809 (GRCm39) |
E562D |
possibly damaging |
Het |
| Pgk2 |
T |
C |
17: 40,518,691 (GRCm39) |
K246E |
probably damaging |
Het |
| Plekhh2 |
A |
T |
17: 84,884,574 (GRCm39) |
|
probably benign |
Het |
| Pou3f2 |
A |
T |
4: 22,487,162 (GRCm39) |
C324S |
probably damaging |
Het |
| Prkdc |
C |
T |
16: 15,485,564 (GRCm39) |
L464F |
possibly damaging |
Het |
| Prrc2a |
T |
C |
17: 35,376,863 (GRCm39) |
H749R |
possibly damaging |
Het |
| Rad18 |
T |
C |
6: 112,597,863 (GRCm39) |
N218S |
possibly damaging |
Het |
| Rbm11 |
T |
C |
16: 75,393,531 (GRCm39) |
Y76H |
possibly damaging |
Het |
| Rif1 |
T |
G |
2: 52,001,567 (GRCm39) |
Y1674D |
possibly damaging |
Het |
| Rrp1b |
A |
G |
17: 32,275,611 (GRCm39) |
H386R |
possibly damaging |
Het |
| Sacs |
T |
C |
14: 61,440,210 (GRCm39) |
V752A |
probably benign |
Het |
| Sema3c |
A |
G |
5: 17,883,334 (GRCm39) |
D314G |
possibly damaging |
Het |
| Spata2l |
G |
A |
8: 123,960,072 (GRCm39) |
R406C |
probably damaging |
Het |
| Tacc2 |
C |
T |
7: 130,264,733 (GRCm39) |
|
probably benign |
Het |
| Tent4b |
C |
A |
8: 88,927,002 (GRCm39) |
Y137* |
probably null |
Het |
| Trpc4 |
A |
G |
3: 54,102,423 (GRCm39) |
E107G |
probably damaging |
Het |
| Vmn2r70 |
A |
G |
7: 85,214,262 (GRCm39) |
S297P |
probably damaging |
Het |
| Xdh |
A |
G |
17: 74,230,073 (GRCm39) |
I286T |
probably benign |
Het |
| Zfp608 |
T |
C |
18: 55,031,463 (GRCm39) |
T826A |
probably benign |
Het |
| Zfp646 |
T |
A |
7: 127,482,683 (GRCm39) |
V1620E |
probably benign |
Het |
| Zfyve28 |
T |
G |
5: 34,389,549 (GRCm39) |
D217A |
probably damaging |
Het |
| Zmym6 |
G |
A |
4: 127,016,798 (GRCm39) |
G768R |
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 |
|
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 |
|
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'- GAGCCTCCTTACCTTTGGCAAGTG -3'
(R):5'- GCCTTTGCACCTACAGGAAGGAAAC -3'
Sequencing Primer
(F):5'- TGAAATCCAGCCAGTGTAGTGTC -3'
(R):5'- AGCTGAGCTTCTAAACTGGGC -3'
|
| Posted On |
2014-02-11 |
Incidental Mutation