Mutagenetix > Incidental Mutation

Incidental Mutation 'R5443:Aldh6a1'

427289

Institutional Source

Beutler Lab

Gene Symbol

Aldh6a1

Ensembl Gene

ENSMUSG00000021238

Gene Name

aldehyde dehydrogenase family 6, subfamily A1

Synonyms

Mmsdh, 1110038I05Rik

MMRRC Submission

043008-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.224) question?

Stock #

R5443 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

84477491-84497778 bp(-) (GRCm39)

Type of Mutation

splice site (4 bp from exon)

DNA Base Change (assembly)

T to C at 84484745 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000082288 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000081828] [ENSMUST00000085192] [ENSMUST00000220491]

AlphaFold

Q9EQ20

Predicted Effect

probably benign
Transcript: ENSMUST00000081828

SMART Domains

Protein: ENSMUSP00000080512
Gene: ENSMUSG00000057265

Domain	Start	End	E-Value	Type
low complexity region	4	29	N/A	INTRINSIC
Pfam:DUF4515	83	276	1.8e-44	PFAM
coiled coil region	277	308	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000085192

SMART Domains

Protein: ENSMUSP00000082288
Gene: ENSMUSG00000021238

Domain	Start	End	E-Value	Type
low complexity region	2	10	N/A	INTRINSIC
low complexity region	30	36	N/A	INTRINSIC
Pfam:Aldedh	48	512	1.9e-139	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000220491

Predicted Effect

probably benign
Transcript: ENSMUST00000221969

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222062

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222641

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222656

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.9%

Validation Efficiency

99% (68/69)

MGI Phenotype

FUNCTION: This gene encodes a member of the aldehyde dehydrogenase protein family. The encoded enzyme is a mitochondrial methylmalonate semialdehyde dehydrogenase that plays a role in the valine and pyrimidine catabolic pathways. This enzyme catalyzes the irreversible oxidative decarboxylation of malonate and methylmalonate semialdehydes to acetyl- and propionyl-CoA. Mutations in the human gene result in Methylmalonate Semialdehyde Dehydrogenase Deficiency, characterized by elevated beta-alanine, 3-hydroxypropionic acid, and both isomers of 3-amino and 3-hydroxyisobutyric acids in urine organic acids. Alternate splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2015]

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap12	A	T	10: 4,305,576 (GRCm39)	E795D	probably damaging	Het
Aox4	A	G	1: 58,273,151 (GRCm39)		probably null	Het
Arhgap39	G	A	15: 76,682,125 (GRCm39)		probably benign	Het
AW551984	T	C	9: 39,509,325 (GRCm39)	E272G	possibly damaging	Het
C1qc	G	A	4: 136,619,804 (GRCm39)		probably benign	Het
Carhsp1	C	A	16: 8,482,203 (GRCm39)	R26L	probably benign	Het
Cdh12	G	T	15: 21,237,935 (GRCm39)	V57L	probably benign	Het
Cfap298	G	T	16: 90,724,099 (GRCm39)	Q168K	probably benign	Het
Clec3a	A	G	8: 115,144,893 (GRCm39)	Y23C	probably benign	Het
Crebrf	G	C	17: 26,961,328 (GRCm39)	V150L	probably damaging	Het
Ddx41	G	T	13: 55,683,104 (GRCm39)	A201E	probably benign	Het
Doc2b	T	C	11: 75,670,921 (GRCm39)	K237E	probably damaging	Het
Dst	T	C	1: 34,267,620 (GRCm39)	S5199P	probably damaging	Het
Efnb2	A	G	8: 8,670,862 (GRCm39)	I129T	probably damaging	Het
Epg5	A	G	18: 78,070,712 (GRCm39)	E2329G	possibly damaging	Het
Esrrg	A	C	1: 187,775,622 (GRCm39)	T27P	possibly damaging	Het
Fah	T	A	7: 84,241,604 (GRCm39)	R316W	probably damaging	Het
Fat4	T	C	3: 39,064,519 (GRCm39)	L4825P	probably damaging	Het
Gabbr1	T	C	17: 37,381,648 (GRCm39)	V804A	probably damaging	Het
Gm1322	G	A	2: 67,015,012 (GRCm39)		noncoding transcript	Het
Gm5114	T	A	7: 39,058,289 (GRCm39)	K443N	probably benign	Het
Gnai2	T	C	9: 107,497,386 (GRCm39)	I3V	probably damaging	Het
Gp2	G	A	7: 119,053,821 (GRCm39)	P47S	possibly damaging	Het
Klf15	C	A	6: 90,444,342 (GRCm39)	Q306K	possibly damaging	Het
Ly6a2	A	T	15: 75,005,568 (GRCm39)		noncoding transcript	Het
Maco1	A	T	4: 134,560,619 (GRCm39)	C121*	probably null	Het
Necab2	A	T	8: 120,195,032 (GRCm39)	M295L	probably benign	Het
Nrg1	A	T	8: 32,339,348 (GRCm39)	Y208N	probably damaging	Het
Nup88	A	T	11: 70,849,256 (GRCm39)	Y232*	probably null	Het
Oacyl	A	G	18: 65,883,253 (GRCm39)	R611G	probably benign	Het
Oasl1	T	C	5: 115,074,129 (GRCm39)		probably null	Het
Or2n1e	T	A	17: 38,585,905 (GRCm39)	M81K	probably damaging	Het
Or2y14	G	T	11: 49,405,262 (GRCm39)	G266C	probably damaging	Het
Or52h7	T	C	7: 104,213,583 (GRCm39)	Y52H	probably benign	Het
Or8k25	A	C	2: 86,243,937 (GRCm39)	I153R	possibly damaging	Het
Pate4	A	C	9: 35,519,170 (GRCm39)	S66A	possibly damaging	Het
Pigl	T	A	11: 62,349,309 (GRCm39)	C8*	probably null	Het
Plg	G	A	17: 12,601,070 (GRCm39)	A51T	probably benign	Het
Polr3a	T	C	14: 24,505,009 (GRCm39)	I1084V	possibly damaging	Het
Ppig	A	T	2: 69,564,635 (GRCm39)	D97V	probably damaging	Het
Ppp1r16a	A	G	15: 76,578,846 (GRCm39)	K517E	possibly damaging	Het
Prr16	A	T	18: 51,436,225 (GRCm39)	S235C	probably damaging	Het
Psmd1	G	A	1: 86,017,905 (GRCm39)	R572H	probably damaging	Het
Sbf2	T	C	7: 109,977,135 (GRCm39)		probably benign	Het
Scrt2	A	T	2: 151,924,043 (GRCm39)	Y25F	probably benign	Het
Sema6d	A	T	2: 124,498,756 (GRCm39)	H222L	probably damaging	Het
Septin2	A	G	1: 93,425,174 (GRCm39)	N110S	possibly damaging	Het
Shpk	G	A	11: 73,113,607 (GRCm39)	G340D	possibly damaging	Het
Smg5	T	A	3: 88,261,896 (GRCm39)	L723H	probably damaging	Het
Sp110	C	T	1: 85,516,841 (GRCm39)	E219K	possibly damaging	Het
Spo11	T	C	2: 172,831,152 (GRCm39)		probably benign	Het
Srarp	T	A	4: 141,163,388 (GRCm39)		probably null	Het
Tbc1d5	A	G	17: 51,042,995 (GRCm39)	I831T	probably damaging	Het
Tm9sf2	A	T	14: 122,363,607 (GRCm39)	Y109F	probably damaging	Het
Tpcn2	A	T	7: 144,809,209 (GRCm39)	M699K	possibly damaging	Het
Trim34a	T	C	7: 103,909,420 (GRCm39)	F289S	possibly damaging	Het
Trim39	T	C	17: 36,571,645 (GRCm39)	H371R	probably damaging	Het
Usp48	T	A	4: 137,348,532 (GRCm39)	I11N	possibly damaging	Het
Zbtb10	T	C	3: 9,345,108 (GRCm39)	F677L	probably benign	Het
Zer1	C	T	2: 30,001,008 (GRCm39)	G138S	probably damaging	Het
Zfp612	A	G	8: 110,816,227 (GRCm39)	K439R	possibly damaging	Het

Other mutations in Aldh6a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01700:Aldh6a1	APN	12	84,486,312 (GRCm39)	missense	probably damaging	1.00
IGL02213:Aldh6a1	APN	12	84,479,326 (GRCm39)	intron	probably benign
IGL02489:Aldh6a1	APN	12	84,480,746 (GRCm39)	missense	possibly damaging	0.66
IGL02806:Aldh6a1	APN	12	84,486,414 (GRCm39)	missense	probably damaging	1.00
IGL02930:Aldh6a1	APN	12	84,480,756 (GRCm39)	missense	possibly damaging	0.78
IGL03183:Aldh6a1	APN	12	84,483,214 (GRCm39)	splice site	probably null
PIT4378001:Aldh6a1	UTSW	12	84,488,646 (GRCm39)	missense	probably benign	0.01
R0015:Aldh6a1	UTSW	12	84,488,554 (GRCm39)	missense	probably damaging	1.00
R0506:Aldh6a1	UTSW	12	84,480,300 (GRCm39)	missense	probably damaging	1.00
R1458:Aldh6a1	UTSW	12	84,486,437 (GRCm39)	missense	probably null	0.01
R1468:Aldh6a1	UTSW	12	84,488,544 (GRCm39)	missense	possibly damaging	0.82
R1468:Aldh6a1	UTSW	12	84,488,544 (GRCm39)	missense	possibly damaging	0.82
R1579:Aldh6a1	UTSW	12	84,488,622 (GRCm39)	missense	possibly damaging	0.83
R2300:Aldh6a1	UTSW	12	84,486,303 (GRCm39)	missense	probably damaging	1.00
R4351:Aldh6a1	UTSW	12	84,490,535 (GRCm39)	missense	probably benign	0.00
R4447:Aldh6a1	UTSW	12	84,486,483 (GRCm39)	missense	possibly damaging	0.73
R5205:Aldh6a1	UTSW	12	84,486,418 (GRCm39)	missense	probably damaging	1.00
R5242:Aldh6a1	UTSW	12	84,483,157 (GRCm39)	missense	probably damaging	1.00
R6849:Aldh6a1	UTSW	12	84,490,561 (GRCm39)	missense	probably benign	0.00
R7001:Aldh6a1	UTSW	12	84,488,662 (GRCm39)	missense	probably damaging	1.00
R7182:Aldh6a1	UTSW	12	84,488,605 (GRCm39)	missense	probably benign	0.19
R7417:Aldh6a1	UTSW	12	84,488,556 (GRCm39)	missense	probably benign	0.01
R7492:Aldh6a1	UTSW	12	84,483,640 (GRCm39)	missense	probably damaging	1.00
R7749:Aldh6a1	UTSW	12	84,488,855 (GRCm39)	missense	probably benign	0.00
R8511:Aldh6a1	UTSW	12	84,480,745 (GRCm39)	missense	possibly damaging	0.93
R9572:Aldh6a1	UTSW	12	84,487,017 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTGCCCTTTGTCACCAAGATC -3'
(R):5'- AGAGATTTGCTGTTGTTAAGCC -3'

Sequencing Primer
(F):5'- GTGCCCTTTGTCACCAAGATCTATTG -3'
(R):5'- CCTGTGGGCTATTAATTCTTTGTG -3'

Posted On

2016-09-01