Incidental Mutation 'R8228:Mmut'
| ID |
637082 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mmut
|
| Ensembl Gene |
ENSMUSG00000023921 |
| Gene Name |
methylmalonyl-Coenzyme A mutase |
| Synonyms |
D230010K02Rik, Mut |
| MMRRC Submission |
067661-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8228 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
41245576-41272879 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 41248219 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 82
(E82G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130941
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087114]
[ENSMUST00000169611]
|
| AlphaFold |
P16332 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000087114
|
| SMART Domains |
Protein: ENSMUSP00000084353
Gene: ENSMUSG00000023919
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CENP-Q
|
118 |
268 |
7.4e-20 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000169611
AA Change: E82G
PolyPhen 2
Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000130941
Gene: ENSMUSG00000023921
AA Change: E82G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MM_CoA_mutase
|
60 |
572 |
3.7e-240 |
PFAM |
|
Pfam:B12-binding
|
613 |
731 |
4.7e-17 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the mitochondrial enzyme methylmalonyl Coenzyme A mutase. In humans, the product of this gene is a vitamin B12-dependent enzyme which catalyzes the isomerization of methylmalonyl-CoA to succinyl-CoA, while in other species this enzyme may have different functions. Mutations in this gene may lead to various types of methylmalonic aciduria. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutant mice die within 1 day of birth exhibiting symptoms similar to those observed in patients with methylmalonic aciduria. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 0610030E20Rik |
T |
C |
6: 72,324,500 (GRCm39) |
|
probably null |
Het |
| 1700008O03Rik |
A |
G |
7: 44,009,729 (GRCm39) |
Y158H |
probably benign |
Het |
| 4930438A08Rik |
T |
A |
11: 58,182,381 (GRCm39) |
I252N |
|
Het |
| A930011G23Rik |
G |
A |
5: 99,524,980 (GRCm39) |
P60S |
probably damaging |
Het |
| Abcf1 |
A |
G |
17: 36,271,933 (GRCm39) |
|
probably null |
Het |
| AI987944 |
T |
C |
7: 41,026,260 (GRCm39) |
T14A |
probably damaging |
Het |
| Alox12b |
T |
C |
11: 69,054,755 (GRCm39) |
Y253H |
probably damaging |
Het |
| Anapc1 |
T |
A |
2: 128,461,837 (GRCm39) |
K1756* |
probably null |
Het |
| Arid5b |
T |
A |
10: 68,114,536 (GRCm39) |
E2V |
possibly damaging |
Het |
| Atp13a1 |
G |
A |
8: 70,251,569 (GRCm39) |
V545M |
probably damaging |
Het |
| Atp2b4 |
TTCTTC |
TTCTTCCTCTTC |
1: 133,629,459 (GRCm39) |
|
probably benign |
Het |
| Cert1 |
A |
G |
13: 96,679,723 (GRCm39) |
T18A |
probably benign |
Het |
| Cfap119 |
G |
A |
7: 127,184,179 (GRCm39) |
T239M |
probably benign |
Het |
| Col1a1 |
T |
G |
11: 94,836,426 (GRCm39) |
|
probably null |
Het |
| Csdc2 |
C |
T |
15: 81,833,411 (GRCm39) |
T136I |
possibly damaging |
Het |
| Dpp9 |
A |
T |
17: 56,498,129 (GRCm39) |
I609N |
probably damaging |
Het |
| Dusp9 |
TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG |
TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG,TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG |
X: 72,684,217 (GRCm39) |
|
probably benign |
Het |
| Gjb6 |
T |
C |
14: 57,361,926 (GRCm39) |
R112G |
probably benign |
Het |
| Gm19410 |
A |
G |
8: 36,252,992 (GRCm39) |
K646E |
possibly damaging |
Het |
| Grik5 |
T |
C |
7: 24,709,933 (GRCm39) |
E934G |
probably damaging |
Het |
| Grik5 |
A |
T |
7: 24,745,735 (GRCm39) |
F446Y |
possibly damaging |
Het |
| Iffo2 |
C |
G |
4: 139,302,483 (GRCm39) |
N75K |
probably damaging |
Het |
| Kif15 |
A |
G |
9: 122,821,041 (GRCm39) |
N649D |
possibly damaging |
Het |
| Lrit2 |
G |
A |
14: 36,791,148 (GRCm39) |
A276T |
probably damaging |
Het |
| Mcm8 |
T |
C |
2: 132,684,714 (GRCm39) |
|
probably null |
Het |
| Or4n4 |
A |
G |
14: 50,518,997 (GRCm39) |
S238P |
probably damaging |
Het |
| Or5w8 |
T |
A |
2: 87,688,284 (GRCm39) |
M255K |
probably benign |
Het |
| Pcdhga8 |
A |
G |
18: 37,861,236 (GRCm39) |
Q764R |
probably benign |
Het |
| Pcgf2 |
T |
C |
11: 97,582,865 (GRCm39) |
Y138C |
probably benign |
Het |
| Phf20l1 |
G |
T |
15: 66,511,789 (GRCm39) |
V922F |
possibly damaging |
Het |
| Pkd1l2 |
A |
T |
8: 117,792,514 (GRCm39) |
I426N |
probably damaging |
Het |
| Psmd6 |
T |
C |
14: 14,116,843 (GRCm38) |
N160S |
possibly damaging |
Het |
| Robo1 |
A |
G |
16: 72,809,768 (GRCm39) |
D1172G |
probably benign |
Het |
| Sdr9c7 |
T |
C |
10: 127,734,544 (GRCm39) |
Y11H |
possibly damaging |
Het |
| Sec24c |
G |
T |
14: 20,739,975 (GRCm39) |
A635S |
probably benign |
Het |
| Tex2 |
T |
C |
11: 106,457,997 (GRCm39) |
I478V |
probably benign |
Het |
| Traip |
T |
C |
9: 107,838,265 (GRCm39) |
M166T |
probably benign |
Het |
| Trdn |
T |
C |
10: 33,033,014 (GRCm39) |
S80P |
probably damaging |
Het |
| Trim46 |
G |
T |
3: 89,142,255 (GRCm39) |
T744N |
probably benign |
Het |
| Tsc1 |
C |
A |
2: 28,566,141 (GRCm39) |
A520D |
probably benign |
Het |
| Usp36 |
T |
C |
11: 118,155,716 (GRCm39) |
E852G |
possibly damaging |
Het |
| Vmn2r101 |
C |
T |
17: 19,811,284 (GRCm39) |
T456I |
probably benign |
Het |
| Zc3h7a |
A |
G |
16: 10,956,954 (GRCm39) |
F885S |
probably damaging |
Het |
| Zfp335 |
G |
A |
2: 164,746,818 (GRCm39) |
R354W |
probably damaging |
Het |
| Zfp456 |
C |
A |
13: 67,514,533 (GRCm39) |
C391F |
probably damaging |
Het |
|
| Other mutations in Mmut |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01482:Mmut
|
APN |
17 |
41,267,162 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01666:Mmut
|
APN |
17 |
41,269,702 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02141:Mmut
|
APN |
17 |
41,249,708 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
IGL02257:Mmut
|
APN |
17 |
41,249,625 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
IGL02538:Mmut
|
APN |
17 |
41,249,510 (GRCm39) |
missense |
probably damaging |
1.00 |
|
mix
|
UTSW |
17 |
41,252,274 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
mongrel
|
UTSW |
17 |
41,249,622 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R0115:Mmut
|
UTSW |
17 |
41,267,118 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0381:Mmut
|
UTSW |
17 |
41,248,149 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0603:Mmut
|
UTSW |
17 |
41,258,057 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0928:Mmut
|
UTSW |
17 |
41,248,174 (GRCm39) |
missense |
probably benign |
0.24 |
|
R1292:Mmut
|
UTSW |
17 |
41,252,298 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1452:Mmut
|
UTSW |
17 |
41,248,359 (GRCm39) |
splice site |
probably benign |
|
|
R1460:Mmut
|
UTSW |
17 |
41,248,266 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2044:Mmut
|
UTSW |
17 |
41,252,342 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2256:Mmut
|
UTSW |
17 |
41,267,210 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2448:Mmut
|
UTSW |
17 |
41,269,732 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R3113:Mmut
|
UTSW |
17 |
41,269,247 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3176:Mmut
|
UTSW |
17 |
41,269,763 (GRCm39) |
splice site |
probably null |
|
|
R3276:Mmut
|
UTSW |
17 |
41,269,763 (GRCm39) |
splice site |
probably null |
|
|
R3894:Mmut
|
UTSW |
17 |
41,266,030 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4624:Mmut
|
UTSW |
17 |
41,257,946 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4801:Mmut
|
UTSW |
17 |
41,248,242 (GRCm39) |
missense |
probably benign |
0.08 |
|
R4802:Mmut
|
UTSW |
17 |
41,248,242 (GRCm39) |
missense |
probably benign |
0.08 |
|
R5031:Mmut
|
UTSW |
17 |
41,249,718 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R5394:Mmut
|
UTSW |
17 |
41,258,075 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5651:Mmut
|
UTSW |
17 |
41,258,002 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6225:Mmut
|
UTSW |
17 |
41,249,622 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R6274:Mmut
|
UTSW |
17 |
41,267,136 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7002:Mmut
|
UTSW |
17 |
41,252,274 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R7141:Mmut
|
UTSW |
17 |
41,263,730 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R7203:Mmut
|
UTSW |
17 |
41,249,564 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7868:Mmut
|
UTSW |
17 |
41,257,934 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8050:Mmut
|
UTSW |
17 |
41,254,784 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8904:Mmut
|
UTSW |
17 |
41,248,284 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8977:Mmut
|
UTSW |
17 |
41,249,481 (GRCm39) |
missense |
probably benign |
|
|
R9182:Mmut
|
UTSW |
17 |
41,252,310 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF021:Mmut
|
UTSW |
17 |
41,262,649 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGGAAACGCCTTCTACACC -3'
(R):5'- GTTTCACAGCAAATTCAAGCAC -3'
Sequencing Primer
(F):5'- GCCTTCTACACCAGCAGC -3'
(R):5'- GCACAAGATGAATGCCATATTTACAG -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation