Incidental Mutation 'R6749:Mmachc'
ID |
532880 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mmachc
|
Ensembl Gene |
ENSMUSG00000028690 |
Gene Name |
methylmalonic aciduria cblC type, with homocystinuria |
Synonyms |
1810037K07Rik |
MMRRC Submission |
044866-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.120)
|
Stock # |
R6749 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
116559631-116565582 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 116561738 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Leucine
at position 132
(R132L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000030453
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030452]
[ENSMUST00000030453]
[ENSMUST00000106462]
[ENSMUST00000106463]
[ENSMUST00000106464]
[ENSMUST00000125671]
[ENSMUST00000130828]
[ENSMUST00000135499]
[ENSMUST00000135573]
[ENSMUST00000138305]
[ENSMUST00000155391]
|
AlphaFold |
Q9CZD0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000030452
|
SMART Domains |
Protein: ENSMUSP00000030452 Gene: ENSMUSG00000028689
Domain | Start | End | E-Value | Type |
coiled coil region
|
112 |
144 |
N/A |
INTRINSIC |
coiled coil region
|
165 |
196 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000030453
AA Change: R132L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000030453 Gene: ENSMUSG00000028690 AA Change: R132L
Domain | Start | End | E-Value | Type |
Pfam:MMACHC
|
20 |
234 |
9.5e-102 |
PFAM |
low complexity region
|
243 |
257 |
N/A |
INTRINSIC |
low complexity region
|
268 |
277 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000106462
|
SMART Domains |
Protein: ENSMUSP00000102070 Gene: ENSMUSG00000028689
Domain | Start | End | E-Value | Type |
coiled coil region
|
21 |
53 |
N/A |
INTRINSIC |
coiled coil region
|
74 |
105 |
N/A |
INTRINSIC |
low complexity region
|
171 |
186 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000106463
|
SMART Domains |
Protein: ENSMUSP00000102071 Gene: ENSMUSG00000028689
Domain | Start | End | E-Value | Type |
low complexity region
|
50 |
60 |
N/A |
INTRINSIC |
coiled coil region
|
138 |
170 |
N/A |
INTRINSIC |
coiled coil region
|
191 |
222 |
N/A |
INTRINSIC |
low complexity region
|
288 |
303 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000106464
|
SMART Domains |
Protein: ENSMUSP00000102072 Gene: ENSMUSG00000028689
Domain | Start | End | E-Value | Type |
low complexity region
|
50 |
60 |
N/A |
INTRINSIC |
coiled coil region
|
138 |
170 |
N/A |
INTRINSIC |
coiled coil region
|
191 |
222 |
N/A |
INTRINSIC |
low complexity region
|
288 |
303 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000125671
|
SMART Domains |
Protein: ENSMUSP00000120954 Gene: ENSMUSG00000028689
Domain | Start | End | E-Value | Type |
low complexity region
|
50 |
60 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000130828
|
SMART Domains |
Protein: ENSMUSP00000120572 Gene: ENSMUSG00000028689
Domain | Start | End | E-Value | Type |
low complexity region
|
49 |
59 |
N/A |
INTRINSIC |
coiled coil region
|
137 |
169 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000135499
|
SMART Domains |
Protein: ENSMUSP00000114263 Gene: ENSMUSG00000028689
Domain | Start | End | E-Value | Type |
low complexity region
|
63 |
73 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000135573
|
SMART Domains |
Protein: ENSMUSP00000114159 Gene: ENSMUSG00000028691
Domain | Start | End | E-Value | Type |
Pfam:Redoxin
|
7 |
158 |
3.8e-18 |
PFAM |
Pfam:AhpC-TSA
|
8 |
142 |
2.8e-43 |
PFAM |
Pfam:1-cysPrx_C
|
162 |
197 |
2.1e-17 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000138305
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000155391
|
SMART Domains |
Protein: ENSMUSP00000120050 Gene: ENSMUSG00000028689
Domain | Start | End | E-Value | Type |
low complexity region
|
49 |
59 |
N/A |
INTRINSIC |
coiled coil region
|
137 |
169 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.3093 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.9%
|
Validation Efficiency |
100% (47/47) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The exact function of the protein encoded by this gene is not known, however, its C-terminal region shows similarity to TonB, a bacterial protein involved in energy transduction for cobalamin (vitamin B12) uptake. Hence, it is postulated that this protein may have a role in the binding and intracellular trafficking of cobalamin. Mutations in this gene are associated with methylmalonic aciduria and homocystinuria type cblC. [provided by RefSeq, Oct 2009]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aatk |
A |
G |
11: 119,901,600 (GRCm39) |
V875A |
possibly damaging |
Het |
Arhgef15 |
A |
T |
11: 68,845,383 (GRCm39) |
F156L |
probably damaging |
Het |
Bdh2 |
T |
A |
3: 135,006,452 (GRCm39) |
S184T |
probably damaging |
Het |
Bmp5 |
A |
T |
9: 75,683,375 (GRCm39) |
M1L |
probably benign |
Het |
Cacfd1 |
T |
C |
2: 26,908,467 (GRCm39) |
Y134H |
probably damaging |
Het |
Camk1 |
G |
A |
6: 113,311,486 (GRCm39) |
P340L |
probably benign |
Het |
Cdc14a |
T |
C |
3: 116,090,807 (GRCm39) |
H424R |
possibly damaging |
Het |
Cntfr |
T |
A |
4: 41,663,232 (GRCm39) |
T192S |
possibly damaging |
Het |
Erbin |
G |
T |
13: 103,970,885 (GRCm39) |
S910R |
probably damaging |
Het |
Esrp1 |
A |
T |
4: 11,357,519 (GRCm39) |
V366E |
probably damaging |
Het |
Fan1 |
T |
A |
7: 64,022,234 (GRCm39) |
N340Y |
probably damaging |
Het |
Fsip2 |
T |
A |
2: 82,808,738 (GRCm39) |
S1686T |
possibly damaging |
Het |
Gata5 |
A |
G |
2: 179,976,143 (GRCm39) |
L7S |
probably damaging |
Het |
Hgf |
T |
A |
5: 16,818,640 (GRCm39) |
|
probably null |
Het |
Ift140 |
A |
G |
17: 25,317,890 (GRCm39) |
E1458G |
probably damaging |
Het |
Ift57 |
G |
A |
16: 49,581,347 (GRCm39) |
G209R |
probably benign |
Het |
Il12rb2 |
G |
T |
6: 67,338,950 (GRCm39) |
|
probably benign |
Het |
Krt78 |
G |
A |
15: 101,859,358 (GRCm39) |
R280C |
probably damaging |
Het |
Lipc |
A |
G |
9: 70,730,668 (GRCm39) |
I88T |
probably damaging |
Het |
Lrmda |
G |
T |
14: 22,077,344 (GRCm39) |
R27L |
probably benign |
Het |
Lrrc37a |
T |
G |
11: 103,392,923 (GRCm39) |
E834A |
probably benign |
Het |
Myo10 |
T |
C |
15: 25,714,196 (GRCm39) |
Y88H |
probably damaging |
Het |
Myo5b |
G |
A |
18: 74,834,574 (GRCm39) |
R878Q |
possibly damaging |
Het |
Or2y1f |
A |
G |
11: 49,184,877 (GRCm39) |
H243R |
probably damaging |
Het |
Padi3 |
T |
C |
4: 140,523,164 (GRCm39) |
T289A |
possibly damaging |
Het |
Pcdhgb4 |
G |
T |
18: 37,854,282 (GRCm39) |
A226S |
possibly damaging |
Het |
Pde4c |
T |
C |
8: 71,198,659 (GRCm39) |
V167A |
probably damaging |
Het |
Pigr |
A |
G |
1: 130,774,285 (GRCm39) |
T422A |
probably benign |
Het |
Pmp2 |
T |
C |
3: 10,247,542 (GRCm39) |
Y49C |
probably benign |
Het |
Prpf39 |
A |
G |
12: 65,103,048 (GRCm39) |
I441V |
possibly damaging |
Het |
Ptprs |
A |
G |
17: 56,744,884 (GRCm39) |
V284A |
probably damaging |
Het |
Rsad1 |
T |
C |
11: 94,434,166 (GRCm39) |
E354G |
probably damaging |
Het |
Sema4b |
T |
A |
7: 79,869,949 (GRCm39) |
D412E |
possibly damaging |
Het |
Siglecg |
A |
G |
7: 43,058,403 (GRCm39) |
I97V |
probably benign |
Het |
Slc4a3 |
C |
T |
1: 75,531,182 (GRCm39) |
R792* |
probably null |
Het |
Slc6a20a |
A |
G |
9: 123,466,135 (GRCm39) |
C569R |
probably damaging |
Het |
Spata19 |
T |
C |
9: 27,309,276 (GRCm39) |
V59A |
probably benign |
Het |
Sult2a3 |
T |
A |
7: 13,816,629 (GRCm39) |
Y183F |
probably benign |
Het |
Tedc1 |
C |
T |
12: 113,121,702 (GRCm39) |
T194M |
probably damaging |
Het |
Tektl1 |
A |
C |
10: 78,588,672 (GRCm39) |
M46R |
possibly damaging |
Het |
Tmem63c |
T |
A |
12: 87,122,439 (GRCm39) |
N412K |
probably damaging |
Het |
Trav5-1 |
T |
C |
14: 52,860,402 (GRCm39) |
I69T |
possibly damaging |
Het |
Trim68 |
T |
C |
7: 102,327,990 (GRCm39) |
D321G |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,695,600 (GRCm39) |
|
probably benign |
Het |
Vars2 |
A |
G |
17: 35,977,605 (GRCm39) |
V109A |
probably damaging |
Het |
Vmn2r96 |
C |
T |
17: 18,818,352 (GRCm39) |
P643L |
probably damaging |
Het |
Zfpm2 |
G |
T |
15: 40,818,104 (GRCm39) |
V146F |
possibly damaging |
Het |
Znfx1 |
T |
C |
2: 166,898,519 (GRCm39) |
K135R |
probably benign |
Het |
|
Other mutations in Mmachc |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00807:Mmachc
|
APN |
4 |
116,563,118 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02014:Mmachc
|
APN |
4 |
116,560,907 (GRCm39) |
missense |
probably damaging |
1.00 |
R0242:Mmachc
|
UTSW |
4 |
116,561,738 (GRCm39) |
missense |
probably damaging |
0.97 |
R0242:Mmachc
|
UTSW |
4 |
116,561,738 (GRCm39) |
missense |
probably damaging |
0.97 |
R0646:Mmachc
|
UTSW |
4 |
116,560,851 (GRCm39) |
missense |
probably damaging |
1.00 |
R1413:Mmachc
|
UTSW |
4 |
116,563,194 (GRCm39) |
missense |
probably damaging |
0.97 |
R1589:Mmachc
|
UTSW |
4 |
116,560,721 (GRCm39) |
missense |
probably benign |
0.05 |
R4037:Mmachc
|
UTSW |
4 |
116,563,215 (GRCm39) |
missense |
probably damaging |
0.99 |
R4038:Mmachc
|
UTSW |
4 |
116,563,215 (GRCm39) |
missense |
probably damaging |
0.99 |
R4039:Mmachc
|
UTSW |
4 |
116,563,215 (GRCm39) |
missense |
probably damaging |
0.99 |
R4627:Mmachc
|
UTSW |
4 |
116,560,668 (GRCm39) |
missense |
probably damaging |
0.97 |
R5557:Mmachc
|
UTSW |
4 |
116,563,097 (GRCm39) |
missense |
probably damaging |
0.96 |
R7541:Mmachc
|
UTSW |
4 |
116,563,082 (GRCm39) |
missense |
probably benign |
|
R9088:Mmachc
|
UTSW |
4 |
116,561,829 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- CTCATTCCATGCAGAAGGCTC -3'
(R):5'- GGACTTAGAACAAAATCATGACTCC -3'
Sequencing Primer
(F):5'- TGAAGGTCCTGAGTTCAAATCCCAG -3'
(R):5'- TGACTCCCATCATGCTAACAAG -3'
|
Posted On |
2018-08-29 |