Incidental Mutation 'R2189:Mmadhc'
| ID |
237953 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mmadhc
|
| Ensembl Gene |
ENSMUSG00000026766 |
| Gene Name |
methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria |
| Synonyms |
2010311D03Rik |
| MMRRC Submission |
040191-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.465)
|
| Stock # |
R2189 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
50169893-50186813 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 50178958 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Tryptophan
at position 153
(C153W)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122804
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102769]
[ENSMUST00000133768]
[ENSMUST00000144143]
|
| AlphaFold |
Q99LS1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000102769
AA Change: C153W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099830
Gene: ENSMUSG00000026766
AA Change: C153W
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF2246
|
24 |
294 |
8.5e-134 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000133768
AA Change: C153W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000115961
Gene: ENSMUSG00000026766
AA Change: C153W
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF2246
|
20 |
179 |
1.8e-62 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134480
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140563
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000144143
AA Change: C153W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000122804
Gene: ENSMUSG00000026766
AA Change: C153W
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF2246
|
20 |
219 |
1.5e-84 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147345
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152948
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154254
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a mitochondrial protein that is involved in an early step of vitamin B12 metabolism. Vitamin B12 (cobalamin) is essential for normal development and survival in humans. Mutations in this gene cause methylmalonic aciduria and homocystinuria type cblD (MMADHC), a disorder of cobalamin metabolism that is characterized by decreased levels of the coenzymes adenosylcobalamin and methylcobalamin. Pseudogenes have been identified on chromosomes 11 and X.[provided by RefSeq, Nov 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acan |
G |
C |
7: 78,747,839 (GRCm39) |
G870A |
probably damaging |
Het |
| Adamtsl2 |
T |
C |
2: 26,971,750 (GRCm39) |
W12R |
probably benign |
Het |
| Bsph1 |
G |
A |
7: 13,204,254 (GRCm39) |
|
probably null |
Het |
| Celsr1 |
G |
T |
15: 85,863,431 (GRCm39) |
H1200Q |
possibly damaging |
Het |
| Clptm1 |
A |
T |
7: 19,371,070 (GRCm39) |
Y355* |
probably null |
Het |
| Cry2 |
T |
C |
2: 92,242,037 (GRCm39) |
E572G |
possibly damaging |
Het |
| Dlk1 |
G |
A |
12: 109,420,975 (GRCm39) |
|
probably null |
Het |
| Eral1 |
A |
G |
11: 77,966,657 (GRCm39) |
V201A |
probably benign |
Het |
| Esrp1 |
A |
T |
4: 11,357,603 (GRCm39) |
M503K |
probably benign |
Het |
| Fam83e |
G |
T |
7: 45,371,607 (GRCm39) |
M1I |
probably null |
Het |
| Flt4 |
G |
A |
11: 49,526,525 (GRCm39) |
A835T |
probably benign |
Het |
| H2bc15 |
A |
G |
13: 21,938,447 (GRCm39) |
D52G |
probably damaging |
Het |
| Hdac4 |
T |
C |
1: 91,903,244 (GRCm39) |
S562G |
probably null |
Het |
| Icosl |
A |
G |
10: 77,909,759 (GRCm39) |
T235A |
possibly damaging |
Het |
| Itga6 |
A |
G |
2: 71,655,961 (GRCm39) |
D295G |
probably benign |
Het |
| Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
| Lipa |
A |
T |
19: 34,502,199 (GRCm39) |
L15Q |
probably benign |
Het |
| Mcc |
T |
C |
18: 44,667,297 (GRCm39) |
E218G |
possibly damaging |
Het |
| Mdga2 |
A |
G |
12: 66,519,970 (GRCm39) |
|
probably null |
Het |
| Myh1 |
A |
G |
11: 67,112,430 (GRCm39) |
D1799G |
probably damaging |
Het |
| Nlrp1b |
T |
A |
11: 71,060,621 (GRCm39) |
Q729L |
probably damaging |
Het |
| Ofcc1 |
T |
A |
13: 40,333,924 (GRCm39) |
Q389L |
probably benign |
Het |
| Or52b2 |
A |
G |
7: 104,986,809 (GRCm39) |
V38A |
probably benign |
Het |
| Or5m5 |
A |
G |
2: 85,814,412 (GRCm39) |
D76G |
probably damaging |
Het |
| Or5p4 |
A |
T |
7: 107,680,243 (GRCm39) |
M81L |
possibly damaging |
Het |
| Or5p50 |
T |
C |
7: 107,421,822 (GRCm39) |
I285V |
probably benign |
Het |
| Pml |
T |
C |
9: 58,142,157 (GRCm39) |
N225S |
probably benign |
Het |
| Rnf213 |
A |
G |
11: 119,321,187 (GRCm39) |
E1215G |
probably benign |
Het |
| Scap |
T |
A |
9: 110,206,761 (GRCm39) |
I402N |
probably damaging |
Het |
| Sgsm2 |
A |
G |
11: 74,743,908 (GRCm39) |
L886P |
probably damaging |
Het |
| Sugct |
T |
C |
13: 17,836,851 (GRCm39) |
I104V |
probably benign |
Het |
| Tmem200c |
A |
G |
17: 69,147,681 (GRCm39) |
Q88R |
probably damaging |
Het |
| Tnfrsf1a |
T |
A |
6: 125,334,768 (GRCm39) |
L14Q |
probably benign |
Het |
| Tnk2 |
C |
T |
16: 32,490,239 (GRCm39) |
L381F |
probably damaging |
Het |
| Ubr2 |
C |
T |
17: 47,254,290 (GRCm39) |
V1454I |
probably benign |
Het |
| V1ra8 |
A |
C |
6: 90,179,944 (GRCm39) |
D49A |
probably damaging |
Het |
| Vmn2r5 |
A |
C |
3: 64,417,014 (GRCm39) |
M48R |
probably benign |
Het |
| Yars1 |
A |
G |
4: 129,099,982 (GRCm39) |
I227V |
probably damaging |
Het |
| Zfp850 |
C |
A |
7: 27,688,480 (GRCm39) |
R576L |
probably benign |
Het |
| Zfpm2 |
T |
A |
15: 40,964,579 (GRCm39) |
F223I |
possibly damaging |
Het |
|
| Other mutations in Mmadhc |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00417:Mmadhc
|
APN |
2 |
50,179,043 (GRCm39) |
missense |
probably benign |
|
|
IGL01732:Mmadhc
|
APN |
2 |
50,171,197 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02397:Mmadhc
|
APN |
2 |
50,178,992 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R0091:Mmadhc
|
UTSW |
2 |
50,182,869 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0458:Mmadhc
|
UTSW |
2 |
50,171,173 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0573:Mmadhc
|
UTSW |
2 |
50,182,847 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R1613:Mmadhc
|
UTSW |
2 |
50,170,338 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4092:Mmadhc
|
UTSW |
2 |
50,177,895 (GRCm39) |
missense |
probably benign |
|
|
R4214:Mmadhc
|
UTSW |
2 |
50,181,344 (GRCm39) |
missense |
probably benign |
|
|
R4498:Mmadhc
|
UTSW |
2 |
50,170,236 (GRCm39) |
missense |
probably benign |
0.25 |
|
R5355:Mmadhc
|
UTSW |
2 |
50,181,436 (GRCm39) |
missense |
probably benign |
0.18 |
|
R5961:Mmadhc
|
UTSW |
2 |
50,181,421 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7343:Mmadhc
|
UTSW |
2 |
50,181,457 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9402:Mmadhc
|
UTSW |
2 |
50,171,119 (GRCm39) |
missense |
probably benign |
|
|
R9623:Mmadhc
|
UTSW |
2 |
50,186,341 (GRCm39) |
start gained |
probably benign |
|
|
R9633:Mmadhc
|
UTSW |
2 |
50,178,988 (GRCm39) |
missense |
probably benign |
0.31 |
|
R9647:Mmadhc
|
UTSW |
2 |
50,186,482 (GRCm39) |
start gained |
probably benign |
|
|
X0018:Mmadhc
|
UTSW |
2 |
50,177,929 (GRCm39) |
missense |
probably benign |
0.02 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTTGTGAAAGCTCAAGCAATC -3'
(R):5'- AACTTTGTCAGACTTCAAGACCTG -3'
Sequencing Primer
(F):5'- GCTCAAGCAATCATTTCTATCCAG -3'
(R):5'- GTTGGCTATAGCACTTTGAGAC -3'
|
| Posted On |
2014-10-02 |
Incidental Mutation