Incidental Mutation 'R8328:Cyp2j11'
| ID |
644192 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cyp2j11
|
| Ensembl Gene |
ENSMUSG00000066097 |
| Gene Name |
cytochrome P450, family 2, subfamily j, polypeptide 11 |
| Synonyms |
Cyp2j11-ps |
| MMRRC Submission |
067727-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.068)
|
| Stock # |
R8328 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
96182745-96236899 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 96236605 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 67
(H67L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132180
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000015368]
|
| AlphaFold |
Q3UNV2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000015368
AA Change: H67L
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000132180
Gene: ENSMUSG00000066097
AA Change: H67L
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
7 |
29 |
N/A |
INTRINSIC |
|
Pfam:p450
|
44 |
500 |
4.3e-133 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts9 |
A |
T |
6: 92,866,993 (GRCm39) |
M682K |
probably benign |
Het |
| Ankdd1b |
T |
A |
13: 96,591,374 (GRCm39) |
I42F |
possibly damaging |
Het |
| Ankrd6 |
C |
T |
4: 32,810,215 (GRCm39) |
E489K |
probably benign |
Het |
| Arhgef28 |
A |
T |
13: 98,187,517 (GRCm39) |
H259Q |
possibly damaging |
Het |
| Atosb |
T |
C |
4: 43,034,751 (GRCm39) |
T323A |
probably benign |
Het |
| C3 |
T |
C |
17: 57,527,973 (GRCm39) |
S749G |
probably benign |
Het |
| Celsr1 |
A |
G |
15: 85,806,445 (GRCm39) |
S2338P |
probably benign |
Het |
| Ces2a |
A |
T |
8: 105,463,998 (GRCm39) |
N210I |
probably damaging |
Het |
| Cuzd1 |
A |
T |
7: 130,913,345 (GRCm39) |
V424D |
probably damaging |
Het |
| Dennd5b |
A |
G |
6: 148,922,115 (GRCm39) |
S800P |
probably damaging |
Het |
| Dmrta2 |
G |
T |
4: 109,837,206 (GRCm39) |
L49F |
unknown |
Het |
| Dpy19l1 |
T |
A |
9: 24,386,686 (GRCm39) |
K9* |
probably null |
Het |
| Dsc2 |
T |
C |
18: 20,165,576 (GRCm39) |
H843R |
possibly damaging |
Het |
| Dsg1b |
T |
A |
18: 20,510,007 (GRCm39) |
F6I |
probably benign |
Het |
| Hck |
C |
T |
2: 152,970,987 (GRCm39) |
A83V |
probably damaging |
Het |
| Hdc |
T |
C |
2: 126,443,803 (GRCm39) |
E292G |
probably damaging |
Het |
| Ighv1-23 |
A |
G |
12: 114,728,116 (GRCm39) |
L102P |
probably damaging |
Het |
| Kdm3b |
G |
A |
18: 34,926,123 (GRCm39) |
V88M |
probably damaging |
Het |
| Kremen2 |
A |
G |
17: 23,961,745 (GRCm39) |
V254A |
probably benign |
Het |
| Lrrc8e |
T |
A |
8: 4,285,641 (GRCm39) |
I622N |
probably damaging |
Het |
| Megf8 |
A |
G |
7: 25,046,917 (GRCm39) |
N1600S |
probably benign |
Het |
| Mical3 |
A |
G |
6: 120,912,138 (GRCm39) |
I1907T |
probably damaging |
Het |
| Nr4a3 |
T |
A |
4: 48,051,323 (GRCm39) |
Y26N |
probably damaging |
Het |
| Nrl |
T |
C |
14: 55,758,163 (GRCm39) |
E188G |
probably damaging |
Het |
| Or4d1 |
A |
G |
11: 87,804,985 (GRCm39) |
M249T |
possibly damaging |
Het |
| Or9e1 |
T |
A |
11: 58,732,460 (GRCm39) |
D173E |
probably benign |
Het |
| Polr1a |
G |
A |
6: 71,897,718 (GRCm39) |
E238K |
probably benign |
Het |
| Pramel26 |
A |
G |
4: 143,537,380 (GRCm39) |
L317P |
probably damaging |
Het |
| Prr5 |
G |
C |
15: 84,587,387 (GRCm39) |
*388S |
probably null |
Het |
| Rptor |
A |
G |
11: 119,783,473 (GRCm39) |
T1156A |
probably benign |
Het |
| Slc9c1 |
T |
A |
16: 45,398,227 (GRCm39) |
I664K |
probably damaging |
Het |
| Stn1 |
C |
A |
19: 47,505,498 (GRCm39) |
R152L |
probably damaging |
Het |
| Syde2 |
T |
C |
3: 145,721,496 (GRCm39) |
V1121A |
probably benign |
Het |
| Vmn1r158 |
T |
C |
7: 22,489,487 (GRCm39) |
T241A |
probably damaging |
Het |
| Vmn1r209 |
C |
A |
13: 22,990,643 (GRCm39) |
V16L |
probably benign |
Het |
| Wdr19 |
A |
G |
5: 65,382,638 (GRCm39) |
E454G |
probably damaging |
Het |
| Zan |
C |
T |
5: 137,392,726 (GRCm39) |
E4590K |
unknown |
Het |
| Zfp579 |
T |
G |
7: 4,997,866 (GRCm39) |
H15P |
unknown |
Het |
| Zfp628 |
A |
G |
7: 4,922,813 (GRCm39) |
N345S |
probably benign |
Het |
| Zfp944 |
T |
A |
17: 22,558,705 (GRCm39) |
K181* |
probably null |
Het |
| Zscan5b |
C |
T |
7: 6,236,946 (GRCm39) |
P232S |
possibly damaging |
Het |
|
| Other mutations in Cyp2j11 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01101:Cyp2j11
|
APN |
4 |
96,227,332 (GRCm39) |
missense |
probably benign |
|
|
IGL01816:Cyp2j11
|
APN |
4 |
96,183,161 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02406:Cyp2j11
|
APN |
4 |
96,236,776 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
E7848:Cyp2j11
|
UTSW |
4 |
96,207,602 (GRCm39) |
missense |
probably benign |
0.09 |
|
R0020:Cyp2j11
|
UTSW |
4 |
96,195,641 (GRCm39) |
missense |
probably benign |
0.19 |
|
R0020:Cyp2j11
|
UTSW |
4 |
96,195,641 (GRCm39) |
missense |
probably benign |
0.19 |
|
R1298:Cyp2j11
|
UTSW |
4 |
96,195,497 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1411:Cyp2j11
|
UTSW |
4 |
96,233,453 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1428:Cyp2j11
|
UTSW |
4 |
96,183,117 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1740:Cyp2j11
|
UTSW |
4 |
96,207,613 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1818:Cyp2j11
|
UTSW |
4 |
96,185,976 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1819:Cyp2j11
|
UTSW |
4 |
96,185,976 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1917:Cyp2j11
|
UTSW |
4 |
96,228,211 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2084:Cyp2j11
|
UTSW |
4 |
96,227,438 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2146:Cyp2j11
|
UTSW |
4 |
96,204,595 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2148:Cyp2j11
|
UTSW |
4 |
96,204,595 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2150:Cyp2j11
|
UTSW |
4 |
96,204,595 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4963:Cyp2j11
|
UTSW |
4 |
96,204,619 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5335:Cyp2j11
|
UTSW |
4 |
96,195,589 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5450:Cyp2j11
|
UTSW |
4 |
96,228,113 (GRCm39) |
missense |
probably benign |
0.44 |
|
R5688:Cyp2j11
|
UTSW |
4 |
96,233,358 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5978:Cyp2j11
|
UTSW |
4 |
96,207,589 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6061:Cyp2j11
|
UTSW |
4 |
96,236,853 (GRCm39) |
start gained |
probably benign |
|
|
R6075:Cyp2j11
|
UTSW |
4 |
96,233,322 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6912:Cyp2j11
|
UTSW |
4 |
96,183,108 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7338:Cyp2j11
|
UTSW |
4 |
96,195,524 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R7394:Cyp2j11
|
UTSW |
4 |
96,204,677 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7464:Cyp2j11
|
UTSW |
4 |
96,233,357 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7972:Cyp2j11
|
UTSW |
4 |
96,185,871 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8152:Cyp2j11
|
UTSW |
4 |
96,195,529 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8383:Cyp2j11
|
UTSW |
4 |
96,236,695 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8519:Cyp2j11
|
UTSW |
4 |
96,207,539 (GRCm39) |
missense |
probably benign |
0.44 |
|
R8789:Cyp2j11
|
UTSW |
4 |
96,227,405 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9268:Cyp2j11
|
UTSW |
4 |
96,207,781 (GRCm39) |
intron |
probably benign |
|
|
R9323:Cyp2j11
|
UTSW |
4 |
96,195,619 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9457:Cyp2j11
|
UTSW |
4 |
96,195,596 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9590:Cyp2j11
|
UTSW |
4 |
96,195,614 (GRCm39) |
missense |
probably benign |
0.11 |
|
Z1176:Cyp2j11
|
UTSW |
4 |
96,195,673 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1176:Cyp2j11
|
UTSW |
4 |
96,195,540 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATATGGGCACTTGCTTACACATTTG -3'
(R):5'- GGCTAACATCTGCTCAGCAATC -3'
Sequencing Primer
(F):5'- GCACTTGCTTACACATTTGTTATAGC -3'
(R):5'- GCTCAGCAATCCATCTCTGG -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation