Mutagenetix > Incidental Mutation

Incidental Mutation 'R2420:Mmaa'

249209

Institutional Source

Beutler Lab

Gene Symbol

Mmaa

Ensembl Gene

ENSMUSG00000037022

Gene Name

methylmalonic aciduria (cobalamin deficiency) type A

Synonyms

2810018E08Rik

MMRRC Submission

040382-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2420 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

79990227-80021566 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 80008061 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 59 (R59W)

Ref Sequence

ENSEMBL: ENSMUSP00000147987 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048718] [ENSMUST00000210231]

AlphaFold

Q8C7H1

Predicted Effect

probably damaging
Transcript: ENSMUST00000048718
AA Change: R59W

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000048826
Gene: ENSMUSG00000037022
AA Change: R59W

Domain	Start	End	E-Value	Type
low complexity region	113	133	N/A	INTRINSIC
AAA	139	307	5.81e-4	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000210231
AA Change: R59W

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.9%
20x: 93.6%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is involved in the translocation of cobalamin into the mitochondrion, where it is used in the final steps of adenosylcobalamin synthesis. Adenosylcobalamin is a coenzyme required for the activity of methylmalonyl-CoA mutase. Defects in this gene are a cause of methylmalonic aciduria. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6820408C15Rik	A	G	2: 152,270,921 (GRCm39)	K48R	probably damaging	Het
Acsm2	T	C	7: 119,162,857 (GRCm39)	F44L	probably damaging	Het
Actr5	T	C	2: 158,478,001 (GRCm39)	F457S	probably damaging	Het
Adamts3	A	G	5: 89,831,034 (GRCm39)	S1007P	probably damaging	Het
Ahnak	C	T	19: 8,986,620 (GRCm39)	P2635S	possibly damaging	Het
Ankrd17	A	T	5: 90,437,179 (GRCm39)	D555E	possibly damaging	Het
Arhgap29	A	G	3: 121,767,629 (GRCm39)	I24V	probably benign	Het
Atxn2	A	T	5: 121,940,142 (GRCm39)		probably null	Het
Birc6	T	A	17: 74,967,609 (GRCm39)	L301Q	probably damaging	Het
Ccdc137	G	A	11: 120,353,090 (GRCm39)		probably null	Het
Ccdc18	A	C	5: 108,376,454 (GRCm39)	E1298D	probably damaging	Het
Chst9	A	T	18: 15,585,341 (GRCm39)	N407K	probably damaging	Het
Cwf19l2	A	G	9: 3,411,341 (GRCm39)	K73E	possibly damaging	Het
Dhcr24	G	T	4: 106,418,291 (GRCm39)		probably benign	Het
Dnajc21	A	G	15: 10,462,021 (GRCm39)	S127P	probably benign	Het
Egln1	T	C	8: 125,674,985 (GRCm39)	N270S	probably benign	Het
Eme1	A	G	11: 94,536,640 (GRCm39)		probably null	Het
Emilin2	A	G	17: 71,581,274 (GRCm39)	I484T	possibly damaging	Het
Entpd2	T	C	2: 25,289,295 (GRCm39)	I259T	probably benign	Het
Fbp1	T	C	13: 63,019,120 (GRCm39)	K24E	probably benign	Het
Fga	A	T	3: 82,940,461 (GRCm39)	N705I	possibly damaging	Het
Gas1	G	T	13: 60,324,744 (GRCm39)		probably benign	Het
Glrb	A	G	3: 80,767,542 (GRCm39)	I226T	probably damaging	Het
Gm17421	T	A	12: 113,333,107 (GRCm39)		noncoding transcript	Het
Gm44501	A	T	17: 40,889,600 (GRCm39)	H38L	possibly damaging	Het
H2-M10.5	A	G	17: 37,085,891 (GRCm39)	I308V	probably benign	Het
Hjurp	GT	GTT	1: 88,194,246 (GRCm39)		probably null	Het
Jcad	T	C	18: 4,675,952 (GRCm39)	M1238T	probably damaging	Het
Kank1	T	C	19: 25,387,821 (GRCm39)	L498S	probably damaging	Het
Krt10	G	A	11: 99,277,933 (GRCm39)	T338I	possibly damaging	Het
Krt13	A	T	11: 100,010,877 (GRCm39)	L159Q	probably benign	Het
Lama1	A	T	17: 68,057,548 (GRCm39)	M541L	probably benign	Het
Lilra6	A	G	7: 3,917,857 (GRCm39)	Y96H	probably damaging	Het
Ltc4s	A	G	11: 50,128,166 (GRCm39)		probably null	Het
Ly6g6e	G	A	17: 35,297,122 (GRCm39)	R121Q	probably benign	Het
Mfn1	A	G	3: 32,623,664 (GRCm39)	I263V	probably benign	Het
Mug2	C	A	6: 122,060,419 (GRCm39)	T1385K	probably damaging	Het
Mypn	G	T	10: 63,028,648 (GRCm39)	Y138*	probably null	Het
Nav3	A	C	10: 109,699,674 (GRCm39)	S273R	probably damaging	Het
Ndufaf1	T	C	2: 119,486,218 (GRCm39)	E298G	probably damaging	Het
Or10d5	A	G	9: 39,861,824 (GRCm39)	L81P	possibly damaging	Het
Or4c114	T	C	2: 88,905,336 (GRCm39)	Y33C	possibly damaging	Het
Or4k42	T	C	2: 111,319,602 (GRCm39)		probably null	Het
Or5k15	T	C	16: 58,710,328 (GRCm39)	E85G	probably benign	Het
Or5p51	T	C	7: 107,444,025 (GRCm39)	K305R	probably benign	Het
Pak1	A	T	7: 97,503,686 (GRCm39)	D7V	probably benign	Het
Pax3	A	T	1: 78,173,501 (GRCm39)		probably null	Het
Plekhg1	G	A	10: 3,908,048 (GRCm39)	M988I	probably benign	Het
Prickle1	A	G	15: 93,401,518 (GRCm39)	F322S	probably damaging	Het
Prl8a2	A	G	13: 27,532,896 (GRCm39)	E36G	possibly damaging	Het
Prss45	A	G	9: 110,668,160 (GRCm39)	I118V	possibly damaging	Het
Psd4	T	G	2: 24,291,253 (GRCm39)	V597G	probably damaging	Het
Psmb10	A	G	8: 106,663,934 (GRCm39)	S108P	probably benign	Het
Pttg1ip2	T	C	5: 5,505,912 (GRCm39)	Y123C	probably benign	Het
Shank3	A	T	15: 89,405,413 (GRCm39)	K455*	probably null	Het
Spag17	T	A	3: 99,934,935 (GRCm39)	W714R	probably benign	Het
Synrg	A	G	11: 83,900,050 (GRCm39)	E674G	probably damaging	Het
Tep1	T	A	14: 51,071,480 (GRCm39)	H2055L	probably benign	Het
Terb1	T	C	8: 105,225,227 (GRCm39)	T14A	probably damaging	Het
Tmub2	T	A	11: 102,178,581 (GRCm39)	D161E	probably benign	Het
Ttc23l	CT	CTTGGATT	15: 10,537,648 (GRCm39)		probably benign	Het
Ttc23l	G	A	15: 10,537,652 (GRCm39)	S206L	probably benign	Het
Tyr	T	A	7: 87,078,397 (GRCm39)	I488F	probably benign	Het
Uba6	A	G	5: 86,280,475 (GRCm39)		probably null	Het
Unc13c	T	C	9: 73,838,829 (GRCm39)	Y674C	probably damaging	Het
Vmn2r105	T	A	17: 20,448,097 (GRCm39)	R242S	probably benign	Het
Vmn2r12	A	G	5: 109,234,398 (GRCm39)	Y605H	probably benign	Het
Wnk1	A	G	6: 119,913,328 (GRCm39)		probably null	Het
Zfhx4	C	A	3: 5,455,465 (GRCm39)	A1153E	probably benign	Het
Zfp13	A	C	17: 23,795,186 (GRCm39)	Y462D	probably damaging	Het
Zfp644	A	G	5: 106,785,110 (GRCm39)	M479T	possibly damaging	Het

Other mutations in Mmaa

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00661:Mmaa	APN	8	80,008,199 (GRCm39)	missense	probably damaging	0.98
IGL01357:Mmaa	APN	8	79,994,600 (GRCm39)	missense	probably benign
IGL02321:Mmaa	APN	8	80,000,759 (GRCm39)	missense	probably damaging	1.00
R2118:Mmaa	UTSW	8	79,994,588 (GRCm39)	nonsense	probably null
R2421:Mmaa	UTSW	8	80,008,061 (GRCm39)	missense	probably damaging	1.00
R3963:Mmaa	UTSW	8	79,994,843 (GRCm39)	missense	probably damaging	1.00
R7709:Mmaa	UTSW	8	79,995,830 (GRCm39)	missense	probably damaging	1.00
R7711:Mmaa	UTSW	8	79,994,774 (GRCm39)	missense	probably benign
R8683:Mmaa	UTSW	8	79,994,598 (GRCm39)	missense	probably damaging	1.00
R9239:Mmaa	UTSW	8	79,995,856 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCTAAGACTCTCTGCAGAAGC -3'
(R):5'- TCAGAAAGTATCCGGTTACAGAC -3'

Sequencing Primer
(F):5'- GAAGCACCTGAGCCAGCTC -3'
(R):5'- GACAAAATGACTATTTCCACGCTG -3'

Posted On

2014-11-12