Incidental Mutation 'R1251:Cyp2j12'
| ID |
151747 |
| 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 |
039318-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.079)
|
| Stock # |
R1251 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
95987555-96029389 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 96003903 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 238
(Q238*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133811
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000097972]
[ENSMUST00000121694]
|
| AlphaFold |
G3UXT0 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000097972
AA Change: Q238*
|
| SMART Domains |
Protein: ENSMUSP00000133811
Gene: ENSMUSG00000081225
AA Change: Q238*
| 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 |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 92.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb10 |
C |
T |
8: 124,688,791 (GRCm39) |
G495D |
probably damaging |
Het |
| Acap2 |
A |
T |
16: 30,926,989 (GRCm39) |
Y509N |
probably damaging |
Het |
| Adcy9 |
T |
A |
16: 4,129,395 (GRCm39) |
E497V |
probably damaging |
Het |
| Bcat2 |
T |
G |
7: 45,225,410 (GRCm39) |
L56R |
probably damaging |
Het |
| Ccdc146 |
T |
C |
5: 21,498,370 (GRCm39) |
M952V |
probably benign |
Het |
| Ccdc39 |
T |
C |
3: 33,880,629 (GRCm39) |
K446R |
probably damaging |
Het |
| Cfap46 |
C |
T |
7: 139,181,181 (GRCm39) |
V2607I |
probably benign |
Het |
| Clec18a |
T |
C |
8: 111,808,270 (GRCm39) |
I54V |
possibly damaging |
Het |
| Coil |
A |
G |
11: 88,873,125 (GRCm39) |
E455G |
possibly damaging |
Het |
| Copg1 |
A |
T |
6: 87,866,989 (GRCm39) |
K75* |
probably null |
Het |
| Eif3i |
T |
C |
4: 129,487,178 (GRCm39) |
E229G |
probably damaging |
Het |
| Exoc2 |
T |
A |
13: 31,070,259 (GRCm39) |
N411Y |
probably benign |
Het |
| Eya2 |
T |
A |
2: 165,596,404 (GRCm39) |
M305K |
probably damaging |
Het |
| Faim |
C |
T |
9: 98,874,687 (GRCm39) |
T78M |
probably damaging |
Het |
| Fgg |
T |
A |
3: 82,920,287 (GRCm39) |
D355E |
probably benign |
Het |
| Foxn1 |
A |
G |
11: 78,249,611 (GRCm39) |
L638P |
probably damaging |
Het |
| Grid2ip |
A |
T |
5: 143,371,770 (GRCm39) |
E664D |
possibly damaging |
Het |
| Il1rn |
A |
G |
2: 24,235,582 (GRCm39) |
R21G |
probably damaging |
Het |
| Ilrun |
C |
T |
17: 28,005,044 (GRCm39) |
|
probably null |
Het |
| Inpp4b |
G |
A |
8: 82,617,382 (GRCm39) |
G220R |
probably benign |
Het |
| Irx6 |
A |
G |
8: 93,404,881 (GRCm39) |
S250G |
possibly damaging |
Het |
| Lyst |
T |
C |
13: 13,809,068 (GRCm39) |
I246T |
probably benign |
Het |
| Mcm3 |
G |
A |
1: 20,882,896 (GRCm39) |
Q353* |
probably null |
Het |
| Mfhas1 |
A |
G |
8: 36,058,207 (GRCm39) |
Y894C |
probably damaging |
Het |
| Mfsd13a |
T |
C |
19: 46,360,492 (GRCm39) |
L348P |
probably damaging |
Het |
| Necab1 |
A |
G |
4: 15,111,192 (GRCm39) |
|
probably null |
Het |
| Nectin3 |
A |
T |
16: 46,284,205 (GRCm39) |
S160T |
possibly damaging |
Het |
| Npc2 |
A |
G |
12: 84,807,658 (GRCm39) |
S67P |
probably damaging |
Het |
| Or5e1 |
T |
G |
7: 108,354,114 (GRCm39) |
F17C |
probably damaging |
Het |
| Or5m9b |
G |
A |
2: 85,905,164 (GRCm39) |
V27M |
probably benign |
Het |
| Pcnx3 |
A |
G |
19: 5,727,210 (GRCm39) |
F1108L |
probably benign |
Het |
| Phf21a |
G |
A |
2: 92,189,544 (GRCm39) |
S601N |
probably benign |
Het |
| Pold1 |
C |
T |
7: 44,184,475 (GRCm39) |
V842I |
probably benign |
Het |
| Rabgap1 |
A |
G |
2: 37,433,246 (GRCm39) |
|
probably null |
Het |
| Setd1a |
T |
A |
7: 127,396,596 (GRCm39) |
|
probably benign |
Het |
| Sgo2a |
A |
T |
1: 58,039,121 (GRCm39) |
|
probably null |
Het |
| Sult2a8 |
T |
A |
7: 14,159,350 (GRCm39) |
K90* |
probably null |
Het |
| Tlr2 |
T |
C |
3: 83,745,576 (GRCm39) |
D169G |
possibly damaging |
Het |
| Tmem95 |
A |
G |
11: 69,767,655 (GRCm39) |
F153S |
probably benign |
Het |
| Tube1 |
G |
T |
10: 39,010,204 (GRCm39) |
G10* |
probably null |
Het |
| Vmn2r10 |
T |
C |
5: 109,143,890 (GRCm39) |
M687V |
probably benign |
Het |
| Zc3h8 |
G |
A |
2: 128,777,289 (GRCm39) |
P117S |
probably benign |
Het |
| Zeb1 |
T |
A |
18: 5,705,089 (GRCm39) |
D18E |
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 |
|
|
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 |
|
R8864:Cyp2j12
|
UTSW |
4 |
96,009,750 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- GGAAGACCCAGACCACTTGTCCTC -3'
(R):5'- TGGGATCATAAAACCTGCCCTGTTC -3'
Sequencing Primer
(F):5'- CCTCACCTTTGACATTTCTGTAAG -3'
(R):5'- TGCATGGCACTGTTGAAACAC -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation