Mutagenetix > Incidental Mutation

Incidental Mutation 'R5205:Aldh6a1'

398468

Institutional Source

Beutler Lab

Gene Symbol

Aldh6a1

Ensembl Gene

ENSMUSG00000021238

Gene Name

aldehyde dehydrogenase family 6, subfamily A1

Synonyms

Mmsdh, 1110038I05Rik

MMRRC Submission

042780-MU

Accession Numbers

Essential gene?

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

Stock #

R5205 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

84477491-84497778 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 84486418 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 167 (M167L)

Ref Sequence

ENSEMBL: ENSMUSP00000082288 (fasta)

Gene Model

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

AlphaFold

Q9EQ20

Predicted Effect

probably damaging
Transcript: ENSMUST00000085192
AA Change: M167L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000082288
Gene: ENSMUSG00000021238
AA Change: M167L

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

0.2139

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 95.0%

Validation Efficiency

100% (54/54)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts19	G	A	18: 59,101,880 (GRCm39)	R650Q	probably damaging	Het
Adgre4	G	T	17: 56,101,727 (GRCm39)	E216*	probably null	Het
Asb16	G	A	11: 102,159,820 (GRCm39)	D58N	probably damaging	Het
Cfap43	C	A	19: 47,885,987 (GRCm39)	L209F	possibly damaging	Het
Cfh	A	G	1: 140,071,708 (GRCm39)	C327R	probably damaging	Het
Chd7	T	A	4: 8,752,509 (GRCm39)	N335K	possibly damaging	Het
Clca3a1	T	C	3: 144,452,545 (GRCm39)	E646G	possibly damaging	Het
Col6a6	A	T	9: 105,659,232 (GRCm39)	V571D	probably damaging	Het
Cttnbp2	T	C	6: 18,427,432 (GRCm39)		probably benign	Het
Dennd1b	T	A	1: 138,982,306 (GRCm39)	S132T	probably benign	Het
Dmpk	C	G	7: 18,821,944 (GRCm39)	L301V	probably benign	Het
Dnaaf2	C	T	12: 69,239,698 (GRCm39)	V608I	probably damaging	Het
Edem3	A	T	1: 151,687,270 (GRCm39)	D717V	probably damaging	Het
Fam135a	T	C	1: 24,068,592 (GRCm39)	N589S	probably benign	Het
Gm13991	G	C	2: 116,358,681 (GRCm39)		noncoding transcript	Het
Ighv2-3	T	C	12: 113,574,895 (GRCm39)	S87G	probably benign	Het
Igkv4-80	A	C	6: 68,993,649 (GRCm39)	S81A	probably benign	Het
Kcna2	T	C	3: 107,004,462 (GRCm39)		probably benign	Het
Klra4	T	A	6: 130,039,080 (GRCm39)	N104I	probably damaging	Het
Lrrc28	A	G	7: 67,181,516 (GRCm39)	S240P	probably benign	Het
Majin	T	C	19: 6,245,789 (GRCm39)	I27T	possibly damaging	Het
Mfhas1	G	A	8: 36,058,161 (GRCm39)	E879K	probably benign	Het
Mif-ps6	A	T	9: 14,756,768 (GRCm39)		noncoding transcript	Het
Msh4	A	G	3: 153,572,049 (GRCm39)	L583P	probably damaging	Het
Nrxn1	A	T	17: 90,471,302 (GRCm39)	N1234K	probably damaging	Het
Or5b120	T	C	19: 13,480,163 (GRCm39)	L152P	probably damaging	Het
Orm1	T	C	4: 63,262,929 (GRCm39)	I32T	possibly damaging	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Plppr2	A	T	9: 21,852,370 (GRCm39)	T85S	probably damaging	Het
Ppp1r9b	T	A	11: 94,892,124 (GRCm39)	W604R	probably benign	Het
Prorp	T	A	12: 55,351,226 (GRCm39)	Y178*	probably null	Het
Prss56	G	T	1: 87,113,256 (GRCm39)	D195Y	probably damaging	Het
Psme4	T	A	11: 30,782,666 (GRCm39)		probably benign	Het
Rbm25	T	A	12: 83,719,643 (GRCm39)	D554E	probably benign	Het
Rbm6	A	G	9: 107,665,542 (GRCm39)	M618T	probably benign	Het
Slc17a5	A	G	9: 78,485,899 (GRCm39)	V62A	probably damaging	Het
Slk	T	A	19: 47,613,899 (GRCm39)	N918K	possibly damaging	Het
Syne1	C	A	10: 5,002,295 (GRCm39)	A8126S	probably benign	Het
Synj2	T	C	17: 5,991,793 (GRCm39)	L23S	probably damaging	Het
Taar2	A	C	10: 23,816,874 (GRCm39)	H138P	probably benign	Het
Taar7b	A	T	10: 23,875,916 (GRCm39)	E27V	probably benign	Het
Tbc1d2b	A	G	9: 90,089,863 (GRCm39)	Y889H	probably damaging	Het
Tmem43	T	C	6: 91,463,763 (GRCm39)	I346T	possibly damaging	Het
Ttc3	T	A	16: 94,248,918 (GRCm39)	C1139S	probably benign	Het
Txndc11	A	G	16: 10,946,529 (GRCm39)	V94A	probably damaging	Het
Ush2a	T	A	1: 188,607,133 (GRCm39)	H4009Q	probably benign	Het
Wnk4	A	G	11: 101,155,964 (GRCm39)	E407G	possibly damaging	Het
Ybx1	G	T	4: 119,136,348 (GRCm39)	D261E	probably damaging	Het
Zfp985	A	T	4: 147,667,368 (GRCm39)	I79F	probably 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
R5242:Aldh6a1	UTSW	12	84,483,157 (GRCm39)	missense	probably damaging	1.00
R5443:Aldh6a1	UTSW	12	84,484,745 (GRCm39)	splice site	probably null
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'- TAATGTTCAGTGTTCCGTCAGG -3'
(R):5'- ATCGCTGTCAGTGGCATGAC -3'

Sequencing Primer
(F):5'- TCCTGAAGCAACTTAGCAAGG -3'
(R):5'- ATGACCCACCCCTGATTGTCAG -3'

Posted On

2016-07-06