Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00807:Mmachc'

12040

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mmachc

Ensembl Gene

ENSMUSG00000028690

Gene Name

methylmalonic aciduria cblC type, with homocystinuria

Synonyms

1810037K07Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.127) question?

Stock #

IGL00807

Quality Score

Status

Chromosome

Chromosomal Location

116559631-116565582 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 116563118 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 79 (V79E)

Ref Sequence

ENSEMBL: ENSMUSP00000030453 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030452] [ENSMUST00000030453] [ENSMUST00000106462] [ENSMUST00000106463] [ENSMUST00000106464] [ENSMUST00000125671] [ENSMUST00000130828] [ENSMUST00000155391] [ENSMUST00000138305] [ENSMUST00000135499]

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: V79E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000030453
Gene: ENSMUSG00000028690
AA Change: V79E

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: 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: 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

Predicted Effect

probably benign
Transcript: ENSMUST00000138305

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

Coding Region Coverage

Validation Efficiency

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: 19 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	T	11: 9,328,285 (GRCm39)	T3453S	probably benign	Het
Ahnak	T	A	19: 8,985,886 (GRCm39)	V2390E	possibly damaging	Het
Aldh8a1	A	T	10: 21,271,329 (GRCm39)	I352F	probably damaging	Het
Ccnt2	T	C	1: 127,725,628 (GRCm39)		probably benign	Het
Ccr1l1	A	T	9: 123,777,506 (GRCm39)	W314R	probably benign	Het
Cdc42bpa	A	G	1: 179,969,018 (GRCm39)	I1218V	possibly damaging	Het
Dlc1	G	A	8: 37,040,002 (GRCm39)	T1386I	probably benign	Het
Frs2	A	C	10: 116,910,791 (GRCm39)		probably benign	Het
Gria1	T	C	11: 56,902,866 (GRCm39)	Y3H	probably benign	Het
Iigp1c	C	T	18: 60,378,483 (GRCm39)	S6F	probably damaging	Het
Ints2	T	C	11: 86,123,961 (GRCm39)	N609S	probably damaging	Het
Lyst	T	A	13: 13,825,008 (GRCm39)	M1541K	possibly damaging	Het
Nfe2l2	T	C	2: 75,509,757 (GRCm39)	D21G	probably damaging	Het
Pde2a	G	A	7: 101,153,619 (GRCm39)	V436M	probably damaging	Het
Polr1has	G	T	17: 37,275,813 (GRCm39)	A132S	probably damaging	Het
Rhot1	C	T	11: 80,116,928 (GRCm39)	H101Y	probably benign	Het
Sh2d4a	T	C	8: 68,782,018 (GRCm39)		probably null	Het
Taar2	A	G	10: 23,816,573 (GRCm39)	M38V	probably benign	Het
Tek	A	T	4: 94,686,956 (GRCm39)	N158I	probably damaging	Het

Other mutations in Mmachc

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R4039: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

Posted On

2012-12-06