Incidental Mutation 'R4039:Mmachc'
| ID |
313836 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mmachc
|
| Ensembl Gene |
ENSMUSG00000028690 |
| Gene Name |
methylmalonic aciduria cblC type, with homocystinuria |
| Synonyms |
1810037K07Rik |
| MMRRC Submission |
041614-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.127)
|
| Stock # |
R4039 (G1)
|
| Quality Score |
225 |
|
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: 98.5%
- 10x: 97.0%
- 20x: 94.0%
|
| Validation Efficiency |
98% (48/49) |
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933412E24Rik |
A |
T |
15: 59,888,215 (GRCm39) |
L75Q |
possibly damaging |
Het |
| Cep290 |
T |
C |
10: 100,348,263 (GRCm39) |
|
probably null |
Het |
| Col11a2 |
A |
G |
17: 34,264,748 (GRCm39) |
T268A |
probably benign |
Het |
| Crnkl1 |
T |
A |
2: 145,774,247 (GRCm39) |
D72V |
possibly damaging |
Het |
| Csn2 |
C |
T |
5: 87,845,935 (GRCm39) |
M1I |
probably null |
Het |
| Dhcr24 |
T |
C |
4: 106,431,075 (GRCm39) |
F255L |
probably benign |
Het |
| Epn2 |
A |
G |
11: 61,437,348 (GRCm39) |
Y75H |
probably damaging |
Het |
| Galnt3 |
A |
T |
2: 65,915,671 (GRCm39) |
H563Q |
probably damaging |
Het |
| Galnt9 |
T |
C |
5: 110,762,074 (GRCm39) |
V37A |
probably damaging |
Het |
| Glb1l3 |
A |
C |
9: 26,740,343 (GRCm39) |
M329R |
probably damaging |
Het |
| Gorab |
A |
T |
1: 163,224,635 (GRCm39) |
D55E |
possibly damaging |
Het |
| Herc2 |
G |
A |
7: 55,806,159 (GRCm39) |
R2318Q |
probably damaging |
Het |
| Hspa2 |
T |
C |
12: 76,452,542 (GRCm39) |
V412A |
probably damaging |
Het |
| Hspb8 |
A |
G |
5: 116,547,403 (GRCm39) |
V193A |
probably benign |
Het |
| Ly75 |
A |
G |
2: 60,183,339 (GRCm39) |
L481P |
probably damaging |
Het |
| Lyzl1 |
T |
C |
18: 4,169,140 (GRCm39) |
L48P |
probably damaging |
Het |
| Mettl27 |
C |
T |
5: 134,969,463 (GRCm39) |
Q212* |
probably null |
Het |
| Ncam2 |
C |
T |
16: 81,287,211 (GRCm39) |
S375L |
probably benign |
Het |
| Ogfrl1 |
T |
C |
1: 23,418,045 (GRCm39) |
|
probably benign |
Het |
| Parp9 |
T |
C |
16: 35,780,417 (GRCm39) |
L461P |
probably damaging |
Het |
| Pcsk7 |
A |
G |
9: 45,839,305 (GRCm39) |
|
probably null |
Het |
| Plekhh1 |
C |
A |
12: 79,101,957 (GRCm39) |
H342Q |
probably benign |
Het |
| Prdm13 |
T |
G |
4: 21,685,774 (GRCm39) |
|
probably benign |
Het |
| Prkaa2 |
T |
C |
4: 104,908,444 (GRCm39) |
N144D |
probably damaging |
Het |
| Ptpn12 |
A |
T |
5: 21,207,508 (GRCm39) |
Y283* |
probably null |
Het |
| Rab12 |
T |
C |
17: 66,807,396 (GRCm39) |
Y111C |
possibly damaging |
Het |
| Ralgapa1 |
T |
C |
12: 55,842,486 (GRCm39) |
N61S |
probably damaging |
Het |
| Rims1 |
T |
C |
1: 22,514,793 (GRCm39) |
S537G |
probably damaging |
Het |
| Sash1 |
G |
T |
10: 8,605,391 (GRCm39) |
P1000T |
probably damaging |
Het |
| Skint5 |
G |
T |
4: 113,743,011 (GRCm39) |
T352K |
unknown |
Het |
| Slc12a5 |
A |
G |
2: 164,834,250 (GRCm39) |
E757G |
probably benign |
Het |
| Sycp2 |
C |
A |
2: 178,022,720 (GRCm39) |
M470I |
possibly damaging |
Het |
| Szt2 |
T |
C |
4: 118,222,149 (GRCm39) |
|
probably benign |
Het |
| Tbc1d1 |
A |
G |
5: 64,473,771 (GRCm39) |
T765A |
probably damaging |
Het |
| Tgfbr2 |
T |
C |
9: 116,004,105 (GRCm39) |
M1V |
probably null |
Het |
| Tnfrsf11a |
A |
G |
1: 105,755,464 (GRCm39) |
|
probably null |
Het |
| Trim43b |
A |
G |
9: 88,973,400 (GRCm39) |
L111P |
probably damaging |
Het |
| Ttbk2 |
A |
T |
2: 120,576,276 (GRCm39) |
S900R |
probably benign |
Het |
| Unc79 |
G |
A |
12: 103,041,208 (GRCm39) |
C747Y |
possibly damaging |
Het |
| Vmn1r218 |
T |
C |
13: 23,320,971 (GRCm39) |
V26A |
possibly damaging |
Het |
| Vmn2r115 |
A |
T |
17: 23,564,077 (GRCm39) |
Y83F |
probably benign |
Het |
| Zfp536 |
A |
T |
7: 37,268,975 (GRCm39) |
L147Q |
probably damaging |
Het |
| Zfp931 |
T |
A |
2: 177,709,777 (GRCm39) |
Q203L |
possibly damaging |
Het |
| Zswim2 |
G |
A |
2: 83,746,338 (GRCm39) |
H367Y |
probably 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 |
|
R4038: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'- AGTTGATATGTAAGGCCAGGC -3'
Sequencing Primer
(F):5'- CCCTAAGCTAGGTCAACAGGGAAG -3'
(R):5'- AGCTTTCTGTGTTCCAGG -3'
|
| Posted On |
2015-04-30 |
Incidental Mutation