Incidental Mutation 'IGL01454:Mtarc1'
| ID |
84728 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Mtarc1
|
| Ensembl Gene |
ENSMUSG00000026621 |
| Gene Name |
mitochondrial amidoxime reducing component 1 |
| Synonyms |
1300013F15Rik, Marc1, Mosc1 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.064)
|
| Stock # |
IGL01454
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
184518964-184543510 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 184539377 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 98
(L98P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106620
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048462]
[ENSMUST00000110992]
[ENSMUST00000189492]
|
| AlphaFold |
Q9CW42 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000048462
AA Change: L98P
PolyPhen 2
Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000035804
Gene: ENSMUSG00000026621
AA Change: L98P
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
25 |
44 |
N/A |
INTRINSIC |
|
low complexity region
|
45 |
54 |
N/A |
INTRINSIC |
|
Pfam:MOSC_N
|
58 |
179 |
1e-39 |
PFAM |
|
Pfam:MOSC
|
195 |
337 |
3e-30 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000110992
AA Change: L98P
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000106620
Gene: ENSMUSG00000026621
AA Change: L98P
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
25 |
44 |
N/A |
INTRINSIC |
|
low complexity region
|
45 |
54 |
N/A |
INTRINSIC |
|
Pfam:MOSC_N
|
58 |
179 |
1.7e-40 |
PFAM |
|
Pfam:MOSC
|
205 |
338 |
1.1e-28 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000189492
|
| SMART Domains |
Protein: ENSMUSP00000139716
Gene: ENSMUSG00000026621
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MOSC_N
|
1 |
74 |
4.2e-15 |
PFAM |
|
Pfam:MOSC
|
90 |
232 |
3.5e-28 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 17 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap25 |
G |
A |
6: 87,473,058 (GRCm39) |
A33V |
possibly damaging |
Het |
| BC004004 |
T |
C |
17: 29,512,995 (GRCm39) |
S140P |
possibly damaging |
Het |
| Cul3 |
T |
C |
1: 80,281,900 (GRCm39) |
D26G |
probably damaging |
Het |
| Dnah17 |
A |
T |
11: 117,949,223 (GRCm39) |
F2929I |
probably damaging |
Het |
| Gm21560 |
A |
G |
14: 6,216,286 (GRCm38) |
F186L |
probably benign |
Het |
| Krt32 |
C |
T |
11: 99,974,907 (GRCm39) |
E347K |
probably damaging |
Het |
| Myh8 |
T |
C |
11: 67,174,422 (GRCm39) |
I223T |
probably damaging |
Het |
| Nr4a3 |
T |
A |
4: 48,067,803 (GRCm39) |
D466E |
probably damaging |
Het |
| Plxnb1 |
A |
T |
9: 108,942,422 (GRCm39) |
D1757V |
probably damaging |
Het |
| Pnpt1 |
T |
C |
11: 29,087,142 (GRCm39) |
I167T |
probably benign |
Het |
| Polrmt |
T |
C |
10: 79,579,517 (GRCm39) |
E78G |
possibly damaging |
Het |
| Pparg |
A |
G |
6: 115,416,900 (GRCm39) |
D31G |
probably damaging |
Het |
| Tiparp |
G |
T |
3: 65,460,030 (GRCm39) |
G442* |
probably null |
Het |
| Trio |
T |
C |
15: 27,833,071 (GRCm39) |
I104V |
probably benign |
Het |
| Vgll4 |
A |
G |
6: 114,840,957 (GRCm39) |
V113A |
probably benign |
Het |
| Vmn2r4 |
A |
T |
3: 64,313,816 (GRCm39) |
N388K |
probably damaging |
Het |
| Zscan20 |
T |
C |
4: 128,483,334 (GRCm39) |
E445G |
probably benign |
Het |
|
| Other mutations in Mtarc1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01985:Mtarc1
|
APN |
1 |
184,519,931 (GRCm39) |
missense |
probably damaging |
1.00 |
|
E0370:Mtarc1
|
UTSW |
1 |
184,527,425 (GRCm39) |
splice site |
probably benign |
|
|
PIT1430001:Mtarc1
|
UTSW |
1 |
184,539,246 (GRCm39) |
missense |
probably benign |
|
|
PIT4366001:Mtarc1
|
UTSW |
1 |
184,539,383 (GRCm39) |
missense |
probably benign |
0.10 |
|
R1335:Mtarc1
|
UTSW |
1 |
184,536,138 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1538:Mtarc1
|
UTSW |
1 |
184,534,199 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2139:Mtarc1
|
UTSW |
1 |
184,527,632 (GRCm39) |
missense |
probably benign |
0.17 |
|
R4591:Mtarc1
|
UTSW |
1 |
184,539,365 (GRCm39) |
missense |
probably benign |
0.10 |
|
R5642:Mtarc1
|
UTSW |
1 |
184,543,116 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6251:Mtarc1
|
UTSW |
1 |
184,527,648 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6370:Mtarc1
|
UTSW |
1 |
184,527,689 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7095:Mtarc1
|
UTSW |
1 |
184,527,437 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9416:Mtarc1
|
UTSW |
1 |
184,527,633 (GRCm39) |
missense |
probably benign |
0.01 |
|
Z1177:Mtarc1
|
UTSW |
1 |
184,536,134 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
| Posted On |
2013-11-11 |
Incidental Mutation