Incidental Mutation 'R0749:Oma1'
| ID |
70244 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Oma1
|
| Ensembl Gene |
ENSMUSG00000035069 |
| Gene Name |
OMA1 zinc metallopeptidase |
| Synonyms |
2010001O09Rik |
| MMRRC Submission |
038929-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0749 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
103171009-103229065 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 103182496 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 300
(Q300*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045269
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035780]
|
| AlphaFold |
Q9D8H7 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000035780
AA Change: Q300*
|
| SMART Domains |
Protein: ENSMUSP00000045269
Gene: ENSMUSG00000035069
AA Change: Q300*
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
113 |
125 |
N/A |
INTRINSIC |
|
low complexity region
|
138 |
158 |
N/A |
INTRINSIC |
|
transmembrane domain
|
191 |
213 |
N/A |
INTRINSIC |
|
Pfam:Peptidase_M48
|
259 |
449 |
2.3e-31 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133178
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143399
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 94.5%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a targeted allele exhibit increased susceptibility to diet-induced obesity and defective thermogenesis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aprt |
A |
T |
8: 123,302,149 (GRCm39) |
Y105N |
probably damaging |
Het |
| Atxn2l |
A |
T |
7: 126,100,009 (GRCm39) |
S109T |
possibly damaging |
Het |
| Bbs9 |
T |
C |
9: 22,486,497 (GRCm39) |
|
probably null |
Het |
| Bmp4 |
T |
C |
14: 46,622,070 (GRCm39) |
E158G |
probably damaging |
Het |
| Btn2a2 |
T |
C |
13: 23,662,568 (GRCm39) |
*418W |
probably null |
Het |
| Cpt1c |
A |
G |
7: 44,612,250 (GRCm39) |
Y494H |
probably damaging |
Het |
| Cyp3a16 |
T |
A |
5: 145,392,987 (GRCm39) |
|
probably null |
Het |
| Dpy19l1 |
T |
A |
9: 24,373,880 (GRCm39) |
H270L |
probably benign |
Het |
| Fdxr |
A |
G |
11: 115,167,671 (GRCm39) |
S15P |
probably benign |
Het |
| Gm8688 |
T |
G |
8: 100,391,152 (GRCm39) |
|
noncoding transcript |
Het |
| Golph3l |
G |
A |
3: 95,515,260 (GRCm39) |
R134Q |
probably damaging |
Het |
| Hmgxb4 |
A |
G |
8: 75,727,565 (GRCm39) |
T183A |
probably damaging |
Het |
| Krt1c |
T |
G |
15: 101,726,098 (GRCm39) |
S147R |
unknown |
Het |
| Lipn |
T |
C |
19: 34,054,379 (GRCm39) |
S206P |
probably damaging |
Het |
| Mcpt2 |
A |
G |
14: 56,281,136 (GRCm39) |
|
probably null |
Het |
| Metap2 |
T |
C |
10: 93,715,429 (GRCm39) |
E133G |
probably benign |
Het |
| Nuak1 |
T |
C |
10: 84,210,648 (GRCm39) |
Y480C |
probably damaging |
Het |
| Pcnt |
T |
C |
10: 76,217,198 (GRCm39) |
E2161G |
probably damaging |
Het |
| Pkdrej |
G |
T |
15: 85,702,275 (GRCm39) |
D1220E |
probably benign |
Het |
| Ptdss1 |
T |
A |
13: 67,135,914 (GRCm39) |
C390* |
probably null |
Het |
| Sars1 |
A |
C |
3: 108,335,582 (GRCm39) |
F389V |
possibly damaging |
Het |
| Sec31b |
C |
T |
19: 44,512,945 (GRCm39) |
V515M |
probably damaging |
Het |
| Syt3 |
A |
G |
7: 44,048,571 (GRCm39) |
E587G |
probably benign |
Het |
| Tjp2 |
T |
C |
19: 24,099,636 (GRCm39) |
E417G |
possibly damaging |
Het |
| Tmem63b |
A |
G |
17: 45,977,041 (GRCm39) |
F442S |
possibly damaging |
Het |
| Togaram1 |
A |
G |
12: 65,029,472 (GRCm39) |
D965G |
possibly damaging |
Het |
| Zmynd10 |
T |
C |
9: 107,425,882 (GRCm39) |
V72A |
probably damaging |
Het |
|
| Other mutations in Oma1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00340:Oma1
|
APN |
4 |
103,176,565 (GRCm39) |
missense |
probably benign |
0.22 |
|
IGL02317:Oma1
|
APN |
4 |
103,176,234 (GRCm39) |
utr 5 prime |
probably benign |
|
|
IGL02483:Oma1
|
APN |
4 |
103,182,309 (GRCm39) |
nonsense |
probably null |
|
|
R0032:Oma1
|
UTSW |
4 |
103,223,209 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0032:Oma1
|
UTSW |
4 |
103,223,209 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0386:Oma1
|
UTSW |
4 |
103,182,398 (GRCm39) |
splice site |
probably benign |
|
|
R0699:Oma1
|
UTSW |
4 |
103,210,792 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1809:Oma1
|
UTSW |
4 |
103,182,374 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1990:Oma1
|
UTSW |
4 |
103,178,971 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3622:Oma1
|
UTSW |
4 |
103,223,288 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4532:Oma1
|
UTSW |
4 |
103,176,571 (GRCm39) |
missense |
probably benign |
0.22 |
|
R4916:Oma1
|
UTSW |
4 |
103,176,727 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8069:Oma1
|
UTSW |
4 |
103,176,232 (GRCm39) |
start gained |
probably benign |
|
|
R8290:Oma1
|
UTSW |
4 |
103,176,671 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8411:Oma1
|
UTSW |
4 |
103,186,113 (GRCm39) |
nonsense |
probably null |
|
|
R8896:Oma1
|
UTSW |
4 |
103,210,829 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9149:Oma1
|
UTSW |
4 |
103,182,214 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R9605:Oma1
|
UTSW |
4 |
103,210,726 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGTTCATGTGGTTGACTCCCCAG -3'
(R):5'- ACTAATCGGCCCATGTCATTACTGTTC -3'
Sequencing Primer
(F):5'- AGCCGTCAATGCCTTTGTG -3'
(R):5'- TCAGGATCATATACGAAAGACTGC -3'
|
| Posted On |
2013-09-30 |
Incidental Mutation