Incidental Mutation 'RF021:Mut'
| ID |
603907 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mut
|
| Ensembl Gene |
ENSMUSG00000023921 |
| Gene Name |
methylmalonyl-Coenzyme A mutase |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
RF021 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
40934685-40961989 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 40951758 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 444
(I444V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130941
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000169611]
|
| AlphaFold |
P16332 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169611
AA Change: I444V
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000130941
Gene: ENSMUSG00000023921
AA Change: I444V
| 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: 99.8%
- 3x: 99.7%
- 10x: 99.3%
- 20x: 98.3%
|
| Validation Efficiency |
91% (50/55) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932438A13Rik |
TTATTATTATTAT |
TTATTATTATTATTAATATTATTATTAT |
3: 37,050,748 (GRCm38) |
|
probably benign |
Het |
| A030005L19Rik |
GTGGTGGCTG |
GTGGTGGCTGTGGTGGCTG |
1: 82,913,569 (GRCm38) |
|
probably benign |
Het |
| AI837181 |
CGG |
CGGTGG |
19: 5,425,234 (GRCm38) |
|
probably benign |
Het |
| Ankrd44 |
T |
C |
1: 54,778,312 (GRCm38) |
H79R |
probably damaging |
Het |
| Atg9a |
T |
A |
1: 75,182,629 (GRCm38) |
E826V |
probably damaging |
Het |
| Atrnl1 |
T |
C |
19: 57,642,473 (GRCm38) |
V224A |
probably benign |
Het |
| Cpn2 |
G |
A |
16: 30,259,338 (GRCm38) |
A515V |
probably benign |
Het |
| Cyp2a12 |
T |
C |
7: 27,035,360 (GRCm38) |
F402S |
possibly damaging |
Het |
| Defb22 |
TGCGGCA |
TGCGGCAGAGCTGGGCGTTGCGGCA |
2: 152,485,832 (GRCm38) |
|
probably benign |
Het |
| Diexf |
A |
G |
1: 193,120,666 (GRCm38) |
F248L |
probably benign |
Het |
| Dnah10 |
G |
T |
5: 124,777,907 (GRCm38) |
V2016F |
probably damaging |
Het |
| Dock10 |
T |
C |
1: 80,564,573 (GRCm38) |
|
probably null |
Het |
| Efhd2 |
GCC |
GCCGCCCCC |
4: 141,874,773 (GRCm38) |
|
probably benign |
Het |
| Fam131a |
A |
C |
16: 20,694,940 (GRCm38) |
|
probably benign |
Het |
| Gm6614 |
A |
T |
6: 142,008,714 (GRCm38) |
V31E |
probably damaging |
Het |
| Gm7247 |
AGACCAGACC |
A |
14: 51,364,324 (GRCm38) |
|
probably benign |
Het |
| Gna13 |
T |
C |
11: 109,392,392 (GRCm38) |
V186A |
probably benign |
Het |
| Grk3 |
T |
A |
5: 112,941,688 (GRCm38) |
I333L |
probably benign |
Het |
| Gstp1 |
A |
T |
19: 4,035,507 (GRCm38) |
V200E |
probably benign |
Het |
| Gtf2h1 |
T |
G |
7: 46,803,865 (GRCm38) |
V74G |
possibly damaging |
Het |
| Kcnh8 |
G |
A |
17: 52,978,239 (GRCm38) |
R1079H |
probably benign |
Het |
| Kiz |
A |
G |
2: 146,870,830 (GRCm38) |
D138G |
possibly damaging |
Het |
| Kmt2b |
TTCTCCT |
TTCTCCTTCTCCT |
7: 30,586,357 (GRCm38) |
|
probably benign |
Het |
| Lats1 |
A |
G |
10: 7,710,608 (GRCm38) |
T912A |
probably damaging |
Het |
| Lce1m |
TGCC |
TGCCGCCGCTGCCGCC |
3: 93,018,295 (GRCm38) |
|
probably benign |
Het |
| Lce1m |
GCTGCCACC |
GCTGCCACCACTTCTGCCACC |
3: 93,018,269 (GRCm38) |
|
probably benign |
Het |
| Lrrc2 |
TTGATTCGGTTCACC |
T |
9: 110,981,676 (GRCm38) |
|
probably null |
Het |
| Med12l |
T |
C |
3: 59,073,290 (GRCm38) |
F359S |
probably benign |
Het |
| Ncoa2 |
CTTAAAA |
C |
1: 13,149,109 (GRCm38) |
|
probably benign |
Het |
| Ngp |
A |
G |
9: 110,421,756 (GRCm38) |
T114A |
possibly damaging |
Het |
| Nlrc5 |
A |
T |
8: 94,476,888 (GRCm38) |
T539S |
probably benign |
Het |
| Nxf1 |
A |
G |
19: 8,772,309 (GRCm38) |
D190G |
probably damaging |
Het |
| Olfr229 |
A |
T |
9: 39,910,045 (GRCm38) |
M81L |
probably benign |
Het |
| Olfr769 |
A |
T |
10: 129,112,342 (GRCm38) |
F28I |
probably damaging |
Het |
| Pramef25 |
C |
G |
4: 143,948,908 (GRCm38) |
Q449H |
probably damaging |
Het |
| Prdm15 |
G |
A |
16: 97,808,756 (GRCm38) |
H563Y |
probably damaging |
Het |
| Rbm12 |
CAGG |
CAGGGATTGCGGGACCTGGTATTGCGGGACCAGG |
2: 156,096,106 (GRCm38) |
|
probably benign |
Het |
| Sema3g |
C |
T |
14: 31,227,841 (GRCm38) |
H660Y |
probably damaging |
Het |
| Smarca2 |
AGCAGCAGCAGCAGCAGCAGCA |
AGCAGCAGCAGCAGCAGCAGCAGCAGCA |
19: 26,630,997 (GRCm38) |
|
probably benign |
Het |
| Stpg2 |
A |
T |
3: 139,212,250 (GRCm38) |
|
probably null |
Het |
| Taar7f |
C |
T |
10: 24,050,423 (GRCm38) |
T305M |
possibly damaging |
Het |
| Tbcb |
C |
T |
7: 30,224,346 (GRCm38) |
V208M |
probably damaging |
Het |
| Tenm2 |
T |
A |
11: 36,024,203 (GRCm38) |
Q2169L |
possibly damaging |
Het |
| Tln1 |
A |
G |
4: 43,555,890 (GRCm38) |
V108A |
probably damaging |
Het |
| Tmc8 |
T |
C |
11: 117,783,234 (GRCm38) |
M42T |
probably benign |
Het |
| Trdc |
T |
C |
14: 54,144,203 (GRCm38) |
V115A |
|
Het |
| Ttbk2 |
A |
G |
2: 120,748,634 (GRCm38) |
V669A |
probably benign |
Het |
| Tusc1 |
GCC |
GCCACCACC |
4: 93,335,316 (GRCm38) |
|
probably benign |
Het |
| Vps16 |
A |
G |
2: 130,438,209 (GRCm38) |
H118R |
probably benign |
Het |
| Wdpcp |
T |
A |
11: 21,711,587 (GRCm38) |
C286* |
probably null |
Het |
| Zbed4 |
C |
A |
15: 88,781,236 (GRCm38) |
Y502* |
probably null |
Het |
| Zdbf2 |
T |
A |
1: 63,302,652 (GRCm38) |
N63K |
possibly damaging |
Het |
|
| Other mutations in Mut |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01482:Mut
|
APN |
17 |
40,956,271 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL01666:Mut
|
APN |
17 |
40,958,811 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02141:Mut
|
APN |
17 |
40,938,817 (GRCm38) |
missense |
possibly damaging |
0.68 |
|
IGL02257:Mut
|
APN |
17 |
40,938,734 (GRCm38) |
missense |
possibly damaging |
0.78 |
|
IGL02538:Mut
|
APN |
17 |
40,938,619 (GRCm38) |
missense |
probably damaging |
1.00 |
|
mix
|
UTSW |
17 |
40,941,383 (GRCm38) |
missense |
possibly damaging |
0.66 |
|
mongrel
|
UTSW |
17 |
40,938,731 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
R0115:Mut
|
UTSW |
17 |
40,956,227 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0381:Mut
|
UTSW |
17 |
40,937,258 (GRCm38) |
missense |
probably benign |
0.04 |
|
R0603:Mut
|
UTSW |
17 |
40,947,166 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0928:Mut
|
UTSW |
17 |
40,937,283 (GRCm38) |
missense |
probably benign |
0.24 |
|
R1292:Mut
|
UTSW |
17 |
40,941,407 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1452:Mut
|
UTSW |
17 |
40,937,468 (GRCm38) |
splice site |
probably benign |
|
|
R1460:Mut
|
UTSW |
17 |
40,937,375 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2044:Mut
|
UTSW |
17 |
40,941,451 (GRCm38) |
missense |
probably benign |
0.00 |
|
R2256:Mut
|
UTSW |
17 |
40,956,319 (GRCm38) |
missense |
probably benign |
0.02 |
|
R2448:Mut
|
UTSW |
17 |
40,958,841 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R3113:Mut
|
UTSW |
17 |
40,958,356 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3176:Mut
|
UTSW |
17 |
40,958,872 (GRCm38) |
splice site |
probably null |
|
|
R3276:Mut
|
UTSW |
17 |
40,958,872 (GRCm38) |
splice site |
probably null |
|
|
R3894:Mut
|
UTSW |
17 |
40,955,139 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R4624:Mut
|
UTSW |
17 |
40,947,055 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4801:Mut
|
UTSW |
17 |
40,937,351 (GRCm38) |
missense |
probably benign |
0.08 |
|
R4802:Mut
|
UTSW |
17 |
40,937,351 (GRCm38) |
missense |
probably benign |
0.08 |
|
R5031:Mut
|
UTSW |
17 |
40,938,827 (GRCm38) |
missense |
possibly damaging |
0.96 |
|
R5394:Mut
|
UTSW |
17 |
40,947,184 (GRCm38) |
missense |
probably benign |
0.02 |
|
R5651:Mut
|
UTSW |
17 |
40,947,111 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6225:Mut
|
UTSW |
17 |
40,938,731 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
R6274:Mut
|
UTSW |
17 |
40,956,245 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7002:Mut
|
UTSW |
17 |
40,941,383 (GRCm38) |
missense |
possibly damaging |
0.66 |
|
R7141:Mut
|
UTSW |
17 |
40,952,839 (GRCm38) |
missense |
possibly damaging |
0.68 |
|
R7203:Mut
|
UTSW |
17 |
40,938,673 (GRCm38) |
missense |
probably benign |
0.06 |
|
R7868:Mut
|
UTSW |
17 |
40,947,043 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8050:Mut
|
UTSW |
17 |
40,943,893 (GRCm38) |
missense |
probably benign |
0.06 |
|
R8228:Mut
|
UTSW |
17 |
40,937,328 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R8904:Mut
|
UTSW |
17 |
40,937,393 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8977:Mut
|
UTSW |
17 |
40,938,590 (GRCm38) |
missense |
probably benign |
|
|
R9182:Mut
|
UTSW |
17 |
40,941,419 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATCCCAGGGATGACATCACC -3'
(R):5'- ATATGCTTACATGGGTGCTTGC -3'
Sequencing Primer
(F):5'- GGGATGACATCACCCACAATGG -3'
(R):5'- CTTACATGGGTGCTTGCAAGAATG -3'
|
| Posted On |
2019-12-04 |
Incidental Mutation