Mutagenetix > Incidental Mutation

Incidental Mutation 'R2996:Mmab'

257183

Institutional Source

Beutler Lab

Gene Symbol

Mmab

Ensembl Gene

ENSMUSG00000029575

Gene Name

methylmalonic aciduria (cobalamin deficiency) cblB type homolog (human)

Synonyms

9130222L19Rik, ATP:Cob(I)alamin Adenosyltransferase

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.184) question?

Stock #

R2996 (G1)

Quality Score

216

Status

Not validated

Chromosome

Chromosomal Location

114569095-114582121 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 114574555 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 184 (R184L)

Ref Sequence

ENSEMBL: ENSMUSP00000142979 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031560] [ENSMUST00000112245] [ENSMUST00000123256]

AlphaFold

Q9D273

Predicted Effect

probably damaging
Transcript: ENSMUST00000031560
AA Change: R184L

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

SMART Domains

Protein: ENSMUSP00000031560
Gene: ENSMUSG00000029575
AA Change: R184L

Domain	Start	End	E-Value	Type
low complexity region	5	22	N/A	INTRINSIC
Pfam:Cob_adeno_trans	52	221	9.5e-64	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000112245
AA Change: R127L

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

SMART Domains

Protein: ENSMUSP00000107864
Gene: ENSMUSG00000029575
AA Change: R127L

Domain	Start	End	E-Value	Type
low complexity region	5	22	N/A	INTRINSIC
Pfam:Cob_adeno_trans	52	111	1.4e-16	PFAM
Pfam:Cob_adeno_trans	108	165	1.5e-20	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000123256
AA Change: R184L

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

SMART Domains

Protein: ENSMUSP00000142979
Gene: ENSMUSG00000029575
AA Change: R184L

Domain	Start	End	E-Value	Type
low complexity region	5	22	N/A	INTRINSIC
Pfam:Cob_adeno_trans	52	220	4.7e-50	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that catalyzes the final step in the conversion of vitamin B(12) into adenosylcobalamin (AdoCbl), a vitamin B12-containing coenzyme for methylmalonyl-CoA mutase. Mutations in the gene are the cause of vitamin B12-dependent methylmalonic aciduria linked to the cblB complementation group. Alternatively spliced transcript variants have been found. [provided by RefSeq, Apr 2011]

Allele List at MGI

Other mutations in this stock

Total: 13 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arid5b	C	T	10: 67,934,292 (GRCm39)	G294S	probably benign	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
F5	C	A	1: 164,010,486 (GRCm39)	R406S	probably damaging	Het
Fam43a	A	G	16: 30,419,838 (GRCm39)	T141A	possibly damaging	Het
Gpsm1	G	A	2: 26,209,843 (GRCm39)		probably benign	Het
Gtpbp3	G	A	8: 71,942,140 (GRCm39)	G125S	possibly damaging	Het
Lmbr1	A	G	5: 29,568,931 (GRCm39)	I30T	probably benign	Het
Map2k7	C	A	8: 4,293,775 (GRCm39)	N138K	probably benign	Het
Mdc1	TGAGGAGGAGGAGGAGGAGGAGGAGGAGG	TGAGGAGGAGGAGGAGGAGGAGGAGG	17: 36,158,785 (GRCm39)		probably benign	Het
Nsun7	T	A	5: 66,452,897 (GRCm39)	H571Q	probably benign	Het
Pfkp	A	G	13: 6,685,966 (GRCm39)	Y23H	probably benign	Het
Rptor	T	A	11: 119,747,124 (GRCm39)	V13D	probably damaging	Het
Vmn1r90	T	C	7: 14,295,459 (GRCm39)	H213R	probably damaging	Het

Other mutations in Mmab

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00846:Mmab	APN	5	114,571,378 (GRCm39)	missense	probably benign	0.03
IGL03139:Mmab	APN	5	114,571,405 (GRCm39)	missense	probably damaging	1.00
R0066:Mmab	UTSW	5	114,574,526 (GRCm39)	splice site	probably benign
R0066:Mmab	UTSW	5	114,574,526 (GRCm39)	splice site	probably benign
R2567:Mmab	UTSW	5	114,571,378 (GRCm39)	missense	probably benign	0.03
R5575:Mmab	UTSW	5	114,574,832 (GRCm39)	missense	probably damaging	1.00
R5772:Mmab	UTSW	5	114,574,775 (GRCm39)	missense	probably damaging	1.00
R7510:Mmab	UTSW	5	114,573,283 (GRCm39)	missense	probably benign
R9563:Mmab	UTSW	5	114,574,850 (GRCm39)	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- ACATCCTAGGGAGCCTATGG -3'
(R):5'- GCCTTCATTCTGCCTGTAGG -3'

Sequencing Primer
(F):5'- CTCAGGACACGTACAATG -3'
(R):5'- CCTGTAGGTATTGGGGTGCTCAAC -3'

Posted On

2015-01-11