Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02014:Mmachc'

183440

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 #

IGL02014

Quality Score

Status

Chromosome

Chromosomal Location

116559631-116565582 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 116560907 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 196 (F196S)

Ref Sequence

ENSEMBL: ENSMUSP00000030453 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030452] [ENSMUST00000030453] [ENSMUST00000030454] [ENSMUST00000106462] [ENSMUST00000106463] [ENSMUST00000106470] [ENSMUST00000125671] [ENSMUST00000130828] [ENSMUST00000135573] [ENSMUST00000135499] [ENSMUST00000138305]

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: F196S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000030453
Gene: ENSMUSG00000028690
AA Change: F196S

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: ENSMUST00000030454

SMART Domains

Protein: ENSMUSP00000030454
Gene: ENSMUSG00000028691

Domain	Start	End	E-Value	Type
Pfam:Redoxin	7	158	1.1e-18	PFAM
Pfam:AhpC-TSA	8	142	9e-44	PFAM
Pfam:1-cysPrx_C	162	176	8e-8	PFAM

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: ENSMUST00000106470

SMART Domains

Protein: ENSMUSP00000102078
Gene: ENSMUSG00000028691

Domain	Start	End	E-Value	Type
Pfam:Redoxin	7	157	2.7e-17	PFAM
Pfam:AhpC-TSA	8	142	6.1e-42	PFAM
Pfam:1-cysPrx_C	162	197	2.2e-17	PFAM

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: ENSMUST00000129624

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143330

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: ENSMUST00000135573

SMART Domains

Protein: ENSMUSP00000114159
Gene: ENSMUSG00000028691

Domain	Start	End	E-Value	Type
Pfam:Redoxin	7	158	3.8e-18	PFAM
Pfam:AhpC-TSA	8	142	2.8e-43	PFAM
Pfam:1-cysPrx_C	162	197	2.1e-17	PFAM

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

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: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd44	C	T	1: 54,696,779 (GRCm39)	G654S	possibly damaging	Het
Ark2c	A	T	18: 77,556,055 (GRCm39)	V167E	probably damaging	Het
Arl14ep	C	T	2: 106,797,458 (GRCm39)	A180T	probably benign	Het
Btbd9	A	C	17: 30,736,124 (GRCm39)	S330A	probably damaging	Het
Cep78	T	C	19: 15,962,102 (GRCm39)	D48G	probably damaging	Het
Col4a4	C	T	1: 82,501,681 (GRCm39)		probably benign	Het
Ctdsp1	C	T	1: 74,433,175 (GRCm39)		probably benign	Het
Gapvd1	G	A	2: 34,594,203 (GRCm39)	P949L	probably damaging	Het
Gas6	T	C	8: 13,518,359 (GRCm39)	T492A	possibly damaging	Het
Igbp1b	A	T	6: 138,634,601 (GRCm39)	V281D	probably benign	Het
Mapk8ip3	G	A	17: 25,122,254 (GRCm39)		probably benign	Het
Met	T	C	6: 17,527,256 (GRCm39)		probably benign	Het
Or52z13	T	A	7: 103,246,937 (GRCm39)	I138N	probably damaging	Het
Pah	A	T	10: 87,417,789 (GRCm39)	T427S	probably benign	Het
Pcdh7	C	A	5: 57,877,045 (GRCm39)	P200Q	probably benign	Het
Pde3a	C	A	6: 141,404,870 (GRCm39)	P365Q	probably null	Het
Pkm	A	G	9: 59,576,244 (GRCm39)	T143A	possibly damaging	Het
Plppr4	A	G	3: 117,129,222 (GRCm39)	S82P	probably damaging	Het
Ryr3	T	C	2: 112,777,260 (GRCm39)	E299G	possibly damaging	Het
Sdk2	G	A	11: 113,729,320 (GRCm39)	P1086S	probably damaging	Het
Spats1	G	A	17: 45,772,166 (GRCm39)	R81C	probably benign	Het
Spmap2l	T	A	5: 77,195,002 (GRCm39)	F59I	probably damaging	Het
Tbc1d2	T	C	4: 46,649,778 (GRCm39)	N86S	possibly damaging	Het
Vezt	T	A	10: 93,832,811 (GRCm39)	Y10F	probably benign	Het
Vmn1r174	C	A	7: 23,453,583 (GRCm39)	P83H	probably damaging	Het
Vmn1r218	C	T	13: 23,321,001 (GRCm39)	T36I	probably damaging	Het
Zmym4	A	T	4: 126,794,462 (GRCm39)	N889K	possibly damaging	Het

Other mutations in Mmachc

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00807:Mmachc	APN	4	116,563,118 (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

2014-05-07