Mutagenetix > Incidental Mutation

Incidental Mutation 'R7541:Mmachc'

583880

Institutional Source

Beutler Lab

Gene Symbol

Mmachc

Ensembl Gene

ENSMUSG00000028690

Gene Name

methylmalonic aciduria cblC type, with homocystinuria

Synonyms

1810037K07Rik

MMRRC Submission

045613-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.138) question?

Stock #

R7541 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

116702279-116708406 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 116705885 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 91 (T91I)

Ref Sequence

ENSEMBL: ENSMUSP00000030453 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030452] [ENSMUST00000030453] [ENSMUST00000106462] [ENSMUST00000106463] [ENSMUST00000106464] [ENSMUST00000125671] [ENSMUST00000130828] [ENSMUST00000135499] [ENSMUST00000138305] [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 benign
Transcript: ENSMUST00000030453
AA Change: T91I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000030453
Gene: ENSMUSG00000028690
AA Change: T91I

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

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: ENSMUST00000138305

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

96% (51/53)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700020D05Rik	G	A	19: 5,503,411 (GRCm38)	P114L	probably benign	Het
4930539E08Rik	G	A	17: 28,905,324 (GRCm38)	R335W	probably damaging	Het
9530053A07Rik	T	A	7: 28,144,256 (GRCm38)	C856*	probably null	Het
Acss2	G	A	2: 155,574,690 (GRCm38)		probably null	Het
Adamts10	G	A	17: 33,531,616 (GRCm38)	R210H	probably benign	Het
Als2	T	C	1: 59,167,616 (GRCm38)		probably null	Het
Aplp2	A	T	9: 31,152,356 (GRCm38)	M652K	possibly damaging	Het
Atrn	A	G	2: 130,961,571 (GRCm38)	I560M	possibly damaging	Het
Bicc1	T	C	10: 70,946,604 (GRCm38)	D602G	possibly damaging	Het
Cdh4	A	G	2: 179,444,810 (GRCm38)		probably null	Het
Clasp1	T	A	1: 118,542,997 (GRCm38)		probably null	Het
Col6a6	A	G	9: 105,767,324 (GRCm38)	I1255T	probably damaging	Het
Comp	G	T	8: 70,381,350 (GRCm38)	V672L	probably damaging	Het
Dbnl	T	G	11: 5,795,486 (GRCm38)	D122E	probably damaging	Het
Dgkz	G	A	2: 91,942,675 (GRCm38)	R346C	probably damaging	Het
Dnhd1	C	T	7: 105,678,309 (GRCm38)	R54C	probably damaging	Het
Elmo3	T	C	8: 105,306,714 (GRCm38)	I121T	probably damaging	Het
Fam184b	A	G	5: 45,542,232 (GRCm38)	L614P	probably damaging	Het
Fbxo18	T	C	2: 11,749,537 (GRCm38)	R797G	probably benign	Het
Gata6	A	G	18: 11,059,108 (GRCm38)	T392A	probably damaging	Het
Gm17783	T	A	16: 45,528,492 (GRCm38)	T106S	possibly damaging	Het
Gm21731	A	T	13: 120,240,979 (GRCm38)	M104L	probably benign	Het
Gm29609	A	G	5: 31,154,232 (GRCm38)	F855S	probably benign	Het
Gm3424	T	C	14: 5,829,330 (GRCm38)	N88D	possibly damaging	Het
Gnas	T	A	2: 174,298,099 (GRCm38)	S80T	unknown	Het
Hsd17b14	C	A	7: 45,566,146 (GRCm38)	P190Q	probably damaging	Het
Iqch	C	T	9: 63,445,521 (GRCm38)	V955I	possibly damaging	Het
Kcnt2	T	C	1: 140,376,384 (GRCm38)	V164A	probably benign	Het
Krt87	A	G	15: 101,438,634 (GRCm38)	L46P	probably damaging	Het
Lef1	A	G	3: 131,191,099 (GRCm38)	M237V	probably benign	Het
Lmbr1l	A	T	15: 98,909,386 (GRCm38)		probably null	Het
Lrrc49	T	C	9: 60,610,403 (GRCm38)	I408V	probably damaging	Het
Luc7l3	T	C	11: 94,295,965 (GRCm38)	S365G	unknown	Het
March2	A	T	17: 33,703,058 (GRCm38)	C109*	probably null	Het
Metrnl	T	A	11: 121,715,970 (GRCm38)	C284S	probably damaging	Het
Mrps7	T	G	11: 115,606,870 (GRCm38)	M187R	probably damaging	Het
Ncapd3	A	G	9: 27,067,040 (GRCm38)	E845G	probably damaging	Het
Olfr1393	T	A	11: 49,280,333 (GRCm38)	F62I	probably damaging	Het
Olfr272	A	T	4: 52,911,376 (GRCm38)	D139E	probably benign	Het
Ooep	T	A	9: 78,378,065 (GRCm38)	T90S	possibly damaging	Het
Pcdhb18	A	T	18: 37,491,609 (GRCm38)	D664V	probably damaging	Het
Pigz	T	C	16: 31,945,131 (GRCm38)	S336P	probably benign	Het
Pou2f2	A	T	7: 25,116,128 (GRCm38)	D71E	probably benign	Het
Reep6	G	T	10: 80,335,199 (GRCm38)	R303L	possibly damaging	Het
Rmdn2	A	T	17: 79,627,868 (GRCm38)	S137C		Het
Rnf220	A	T	4: 117,489,930 (GRCm38)	L95H	probably damaging	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,579,911 (GRCm38)		probably benign	Het
Stxbp1	A	T	2: 32,818,505 (GRCm38)	S83T	probably damaging	Het
Trappc11	T	C	8: 47,505,582 (GRCm38)		probably null	Het
Ttn	G	T	2: 76,791,301 (GRCm38)	D15598E	probably damaging	Het
Vav2	T	A	2: 27,275,002 (GRCm38)	R645W	probably damaging	Het
Vmn1r169	T	A	7: 23,577,987 (GRCm38)	V268D	probably benign	Het
Zp2	A	T	7: 120,136,056 (GRCm38)	C365S	probably damaging	Het

Other mutations in Mmachc

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00807:Mmachc	APN	4	116,705,921 (GRCm38)	missense	probably damaging	1.00
IGL02014:Mmachc	APN	4	116,703,710 (GRCm38)	missense	probably damaging	1.00
R0242:Mmachc	UTSW	4	116,704,541 (GRCm38)	missense	probably damaging	0.97
R0242:Mmachc	UTSW	4	116,704,541 (GRCm38)	missense	probably damaging	0.97
R0646:Mmachc	UTSW	4	116,703,654 (GRCm38)	missense	probably damaging	1.00
R1413:Mmachc	UTSW	4	116,705,997 (GRCm38)	missense	probably damaging	0.97
R1589:Mmachc	UTSW	4	116,703,524 (GRCm38)	missense	probably benign	0.05
R4037:Mmachc	UTSW	4	116,706,018 (GRCm38)	missense	probably damaging	0.99
R4038:Mmachc	UTSW	4	116,706,018 (GRCm38)	missense	probably damaging	0.99
R4039:Mmachc	UTSW	4	116,706,018 (GRCm38)	missense	probably damaging	0.99
R4627:Mmachc	UTSW	4	116,703,471 (GRCm38)	missense	probably damaging	0.97
R5557:Mmachc	UTSW	4	116,705,900 (GRCm38)	missense	probably damaging	0.96
R6749:Mmachc	UTSW	4	116,704,541 (GRCm38)	missense	probably damaging	1.00
R9088:Mmachc	UTSW	4	116,704,632 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACCTGGGTGTAAGAAGTTGC -3'
(R):5'- TACAATGAACTCCTGCCTCCAG -3'

Sequencing Primer
(F):5'- ATGGTGGCTCACAACCATCTG -3'
(R):5'- GAACTCCTGCCTCCAGCCTTC -3'

Posted On

2019-10-17