Incidental Mutation 'R4038:Mmachc'
| ID |
313791 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mmachc
|
| Ensembl Gene |
ENSMUSG00000028690 |
| Gene Name |
methylmalonic aciduria cblC type, with homocystinuria |
| Synonyms |
1810037K07Rik |
| MMRRC Submission |
040965-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.120)
|
| Stock # |
R4038 (G1)
|
| Quality Score |
221 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
116559631-116565582 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 116563215 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 47
(T47S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030453
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030452]
[ENSMUST00000030453]
[ENSMUST00000106462]
[ENSMUST00000106463]
[ENSMUST00000106464]
[ENSMUST00000125671]
[ENSMUST00000138305]
[ENSMUST00000130828]
[ENSMUST00000135499]
[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: T47S
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000030453
Gene: ENSMUSG00000028690
AA Change: T47S
| 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 |
noncoding transcript
Transcript: ENSMUST00000126197
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143330
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129624
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000138305
|
| 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: 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 |
0.3930 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.1%
|
| Validation Efficiency |
93% (39/42) |
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ate1 |
A |
G |
7: 130,106,495 (GRCm39) |
S282P |
probably damaging |
Het |
| Cacna1d |
T |
A |
14: 29,788,040 (GRCm39) |
Q1610L |
probably damaging |
Het |
| Carmil2 |
C |
A |
8: 106,422,039 (GRCm39) |
R1103S |
probably damaging |
Het |
| Clca3a1 |
T |
A |
3: 144,460,994 (GRCm39) |
Y219F |
probably benign |
Het |
| Creb3l3 |
A |
G |
10: 80,925,172 (GRCm39) |
V224A |
probably benign |
Het |
| Crnkl1 |
T |
A |
2: 145,774,247 (GRCm39) |
D72V |
possibly damaging |
Het |
| Dhcr24 |
T |
C |
4: 106,431,075 (GRCm39) |
F255L |
probably benign |
Het |
| Eef2kmt |
A |
T |
16: 5,063,135 (GRCm39) |
V335D |
probably damaging |
Het |
| Elp2 |
T |
A |
18: 24,767,405 (GRCm39) |
W696R |
probably damaging |
Het |
| Glb1l3 |
A |
C |
9: 26,740,343 (GRCm39) |
M329R |
probably damaging |
Het |
| Gm4787 |
A |
T |
12: 81,425,132 (GRCm39) |
F342Y |
probably damaging |
Het |
| Gpr137c |
C |
A |
14: 45,457,687 (GRCm39) |
L80I |
probably damaging |
Het |
| Gpr83 |
A |
G |
9: 14,772,073 (GRCm39) |
I82V |
possibly damaging |
Het |
| Greb1l |
C |
T |
18: 10,515,209 (GRCm39) |
T558I |
possibly damaging |
Het |
| Hnrnpul2 |
T |
A |
19: 8,800,591 (GRCm39) |
|
probably benign |
Het |
| Hspa2 |
T |
C |
12: 76,452,542 (GRCm39) |
V412A |
probably damaging |
Het |
| Iqcd |
T |
C |
5: 120,740,587 (GRCm39) |
V306A |
probably damaging |
Het |
| Lmod3 |
T |
C |
6: 97,225,275 (GRCm39) |
N182S |
probably benign |
Het |
| Metrn |
T |
C |
17: 26,013,984 (GRCm39) |
T281A |
probably benign |
Het |
| Mid1-ps1 |
G |
A |
Y: 90,773,563 (GRCm39) |
|
noncoding transcript |
Het |
| Nfia |
C |
A |
4: 97,909,074 (GRCm39) |
R277S |
probably damaging |
Het |
| Or9m2 |
T |
A |
2: 87,821,262 (GRCm39) |
I269N |
possibly damaging |
Het |
| Pcdha8 |
T |
C |
18: 37,125,914 (GRCm39) |
M132T |
probably benign |
Het |
| Prkaa2 |
T |
C |
4: 104,908,444 (GRCm39) |
N144D |
probably damaging |
Het |
| Ptprf |
C |
T |
4: 118,114,805 (GRCm39) |
R150H |
probably damaging |
Het |
| Sfmbt1 |
T |
G |
14: 30,509,449 (GRCm39) |
D309E |
probably damaging |
Het |
| Skint5 |
G |
T |
4: 113,743,011 (GRCm39) |
T352K |
unknown |
Het |
| Slc16a10 |
G |
C |
10: 39,932,620 (GRCm39) |
H314D |
possibly damaging |
Het |
| Slc28a2 |
C |
A |
2: 122,284,996 (GRCm39) |
A328E |
probably benign |
Het |
| Ssc4d |
C |
A |
5: 135,999,170 (GRCm39) |
W11L |
possibly damaging |
Het |
| Sycp2 |
C |
A |
2: 178,022,720 (GRCm39) |
M470I |
possibly damaging |
Het |
| Tfap2c |
A |
T |
2: 172,398,110 (GRCm39) |
S413C |
probably damaging |
Het |
| Unc13c |
A |
G |
9: 73,441,188 (GRCm39) |
|
probably null |
Het |
| Vmn1r218 |
T |
C |
13: 23,320,971 (GRCm39) |
V26A |
possibly damaging |
Het |
| Wipf3 |
G |
A |
6: 54,458,813 (GRCm39) |
G56D |
probably damaging |
Het |
| Wiz |
T |
C |
17: 32,578,198 (GRCm39) |
E429G |
probably damaging |
Het |
| Zer1 |
T |
C |
2: 29,997,535 (GRCm39) |
N457S |
probably damaging |
Het |
| Zfp931 |
T |
A |
2: 177,709,777 (GRCm39) |
Q203L |
possibly damaging |
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 |
|
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 |
|
R6749:Mmachc
|
UTSW |
4 |
116,561,738 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- TGCCCTAAGCTAGGTCAACAG -3'
(R):5'- AAGTTGATATGTAAGGCCAGGC -3'
Sequencing Primer
(F):5'- CCCTAAGCTAGGTCAACAGGGAAG -3'
(R):5'- AGCTTTCTGTGTTCCAGG -3'
|
| Posted On |
2015-04-30 |
Incidental Mutation