Incidental Mutation 'R1335:Mtarc1'
| ID |
156832 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mtarc1
|
| Ensembl Gene |
ENSMUSG00000026621 |
| Gene Name |
mitochondrial amidoxime reducing component 1 |
| Synonyms |
1300013F15Rik, Marc1, Mosc1 |
| MMRRC Submission |
039400-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.057)
|
| Stock # |
R1335 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
184518964-184543510 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 184536138 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 98
(R98Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139716
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048462]
[ENSMUST00000110992]
[ENSMUST00000189492]
|
| AlphaFold |
Q9CW42 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000048462
AA Change: R203Q
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000035804
Gene: ENSMUSG00000026621
AA Change: R203Q
| 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 benign
Transcript: ENSMUST00000110992
AA Change: G202R
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000106620
Gene: ENSMUSG00000026621
AA Change: G202R
| 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
AA Change: R98Q
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000139716
Gene: ENSMUSG00000026621
AA Change: R98Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MOSC_N
|
1 |
74 |
4.2e-15 |
PFAM |
|
Pfam:MOSC
|
90 |
232 |
3.5e-28 |
PFAM |
|
| Meta Mutation Damage Score |
0.1327 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.7%
|
| Validation Efficiency |
100% (32/32) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Amph |
G |
A |
13: 19,326,198 (GRCm39) |
V643M |
probably damaging |
Het |
| Bid |
C |
T |
6: 120,874,216 (GRCm39) |
A110T |
possibly damaging |
Het |
| Cd209d |
T |
A |
8: 3,922,027 (GRCm39) |
D185V |
probably damaging |
Het |
| Cdc42bpb |
T |
C |
12: 111,262,875 (GRCm39) |
Y1484C |
probably damaging |
Het |
| Cdh9 |
T |
C |
15: 16,850,878 (GRCm39) |
V549A |
probably benign |
Het |
| Cmya5 |
C |
T |
13: 93,178,043 (GRCm39) |
V3604M |
possibly damaging |
Het |
| Eprs1 |
T |
A |
1: 185,119,286 (GRCm39) |
W489R |
probably damaging |
Het |
| Galnt14 |
T |
A |
17: 73,833,285 (GRCm39) |
I230F |
probably damaging |
Het |
| Gm19965 |
A |
G |
1: 116,732,349 (GRCm39) |
K64R |
possibly damaging |
Het |
| Gpr141 |
T |
G |
13: 19,936,034 (GRCm39) |
Y247S |
possibly damaging |
Het |
| Ivd |
A |
T |
2: 118,699,923 (GRCm39) |
H52L |
probably benign |
Het |
| Mcoln2 |
A |
G |
3: 145,885,929 (GRCm39) |
H260R |
probably benign |
Het |
| Mdga2 |
T |
C |
12: 66,763,516 (GRCm39) |
|
probably null |
Het |
| Ndrg3 |
T |
C |
2: 156,787,928 (GRCm39) |
|
probably benign |
Het |
| Or2l13 |
T |
C |
16: 19,305,803 (GRCm39) |
Y72H |
probably benign |
Het |
| Pcdhb17 |
A |
T |
18: 37,619,287 (GRCm39) |
N359I |
probably damaging |
Het |
| Phf24 |
G |
A |
4: 42,934,657 (GRCm39) |
V98I |
probably benign |
Het |
| Pkhd1 |
C |
A |
1: 20,641,629 (GRCm39) |
G270W |
probably damaging |
Het |
| Pkhd1l1 |
G |
A |
15: 44,368,943 (GRCm39) |
V863I |
probably damaging |
Het |
| Prss51 |
T |
G |
14: 64,333,620 (GRCm39) |
|
probably null |
Het |
| Scarb2 |
C |
T |
5: 92,599,205 (GRCm39) |
|
probably null |
Het |
| Simc1 |
ACCA |
ACCANNNNNNNNNNNNNNNNNNCCA |
13: 54,673,078 (GRCm39) |
|
probably benign |
Het |
| Slco1c1 |
T |
A |
6: 141,487,853 (GRCm39) |
Y192N |
probably damaging |
Het |
| Smco2 |
T |
C |
6: 146,763,585 (GRCm39) |
|
probably benign |
Het |
| Snx13 |
A |
G |
12: 35,182,123 (GRCm39) |
D724G |
probably benign |
Het |
| Stard9 |
C |
A |
2: 120,504,117 (GRCm39) |
S221R |
probably damaging |
Het |
| Sytl4 |
GAAAAAA |
GAAAAA |
X: 132,861,875 (GRCm39) |
|
probably benign |
Het |
| Tnr |
A |
G |
1: 159,695,600 (GRCm39) |
T508A |
probably benign |
Het |
| Vmn1r30 |
A |
G |
6: 58,412,080 (GRCm39) |
S251P |
probably damaging |
Het |
| Zdhhc16 |
T |
A |
19: 41,929,073 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Mtarc1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01454:Mtarc1
|
APN |
1 |
184,539,377 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTGGCCCTCTACTTAGAAGCCTGG -3'
(R):5'- AGTTGGATGCAGCTTTCCGACC -3'
Sequencing Primer
(F):5'- CCAGGCTGTGAGCACAAG -3'
(R):5'- GTGTTAACCATACTCAGAGCATC -3'
|
| Posted On |
2014-02-11 |
Incidental Mutation