Mutagenetix > Incidental Mutation

Incidental Mutation 'R6849:Aldh6a1'

534927

Institutional Source

Beutler Lab

Gene Symbol

Aldh6a1

Ensembl Gene

ENSMUSG00000021238

Gene Name

aldehyde dehydrogenase family 6, subfamily A1

Synonyms

Mmsdh, 1110038I05Rik

MMRRC Submission

044953-MU

Accession Numbers

Essential gene?

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

Stock #

R6849 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

84477491-84497778 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 84490561 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 18 (V18A)

Ref Sequence

ENSEMBL: ENSMUSP00000152269 (fasta)

Gene Model

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

AlphaFold

Q9EQ20

Predicted Effect

probably benign
Transcript: ENSMUST00000085192
AA Change: V18A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000082288
Gene: ENSMUSG00000021238
AA Change: V18A

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
AA Change: V18A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

probably benign
Transcript: ENSMUST00000221969

Meta Mutation Damage Score

0.0756

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

Validation Efficiency

100% (55/55)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022B05Rik	G	T	8: 125,366,261 (GRCm39)	Q161K	probably damaging	Het
4930578I06Rik	A	T	14: 64,223,687 (GRCm39)	W30R	probably damaging	Het
4930578I06Rik	G	T	14: 64,223,688 (GRCm39)	N29K	probably benign	Het
Apoa5	A	G	9: 46,181,298 (GRCm39)	K125E	probably benign	Het
Atosa	A	C	9: 74,916,594 (GRCm39)	N398H	probably damaging	Het
Bphl	T	A	13: 34,234,252 (GRCm39)		probably null	Het
C2cd3	T	A	7: 100,056,134 (GRCm39)	V514E	probably damaging	Het
Cacna1s	G	A	1: 136,020,432 (GRCm39)	R823Q	probably benign	Het
Cep192	A	G	18: 67,945,506 (GRCm39)	D202G	probably benign	Het
Chd5	A	T	4: 152,462,995 (GRCm39)	N1420Y	probably damaging	Het
Cnot10	A	T	9: 114,461,004 (GRCm39)	D55E	probably benign	Het
Cntn1	T	A	15: 92,203,127 (GRCm39)	I803N	probably damaging	Het
Col7a1	G	T	9: 108,804,121 (GRCm39)	V2217L	unknown	Het
Cpne9	T	G	6: 113,279,079 (GRCm39)	V491G	probably damaging	Het
Cracd	C	A	5: 77,004,857 (GRCm39)	A406E	unknown	Het
Cracd	C	T	5: 77,005,004 (GRCm39)	A455V	unknown	Het
Csnk2a1	C	A	2: 152,092,484 (GRCm39)	H18Q	probably benign	Het
D130040H23Rik	T	A	8: 69,755,303 (GRCm39)	Y253*	probably null	Het
Dnah14	A	T	1: 181,636,510 (GRCm39)	M4321L	probably benign	Het
Dnah5	A	G	15: 28,278,770 (GRCm39)	T1122A	probably benign	Het
Eif4g1	A	G	16: 20,499,495 (GRCm39)	I515V	probably benign	Het
Fbn1	T	C	2: 125,163,611 (GRCm39)	K2082E	possibly damaging	Het
Fstl1	A	G	16: 37,641,521 (GRCm39)	K99R	probably benign	Het
Gar1	T	C	3: 129,623,038 (GRCm39)	N117S	probably damaging	Het
Gm3238	A	T	10: 77,606,744 (GRCm39)		probably benign	Het
Gm32742	C	T	9: 51,050,014 (GRCm39)	M1528I	probably benign	Het
H2-T3	T	C	17: 36,500,697 (GRCm39)	I49V	probably benign	Het
Hyou1	A	G	9: 44,298,561 (GRCm39)	I581V	probably damaging	Het
Itk	T	C	11: 46,222,762 (GRCm39)	N563S	probably damaging	Het
Lingo1	A	G	9: 56,526,900 (GRCm39)	L563P	probably damaging	Het
Lipc	A	G	9: 70,726,129 (GRCm39)		probably null	Het
Map4k3	A	C	17: 80,937,842 (GRCm39)		probably null	Het
Mctp2	C	T	7: 71,861,466 (GRCm39)	C393Y	probably damaging	Het
Mei1	T	A	15: 81,964,146 (GRCm39)	L229M	possibly damaging	Het
Or13g1	T	C	7: 85,956,248 (GRCm39)	I24M	possibly damaging	Het
Or9i2	G	T	19: 13,816,203 (GRCm39)	C111*	probably null	Het
Pcnx2	A	G	8: 126,587,949 (GRCm39)	V833A	probably damaging	Het
Pde8b	T	C	13: 95,184,307 (GRCm39)	N388D	possibly damaging	Het
Pi4ka	G	A	16: 17,121,285 (GRCm39)	A1197V	possibly damaging	Het
Psd	A	G	19: 46,306,185 (GRCm39)	Y36H	probably damaging	Het
Scn8a	T	A	15: 100,853,468 (GRCm39)		probably null	Het
Shisa6	A	G	11: 66,416,327 (GRCm39)	V155A	probably benign	Het
Slc45a3	T	A	1: 131,905,702 (GRCm39)	C242S	probably damaging	Het
Sorbs1	G	C	19: 40,365,244 (GRCm39)	R180G	probably benign	Het
Tmc3	T	A	7: 83,235,565 (GRCm39)	I54K	probably damaging	Het
Tmprss11g	T	A	5: 86,644,491 (GRCm39)	I118F	probably benign	Het
Ttn	T	A	2: 76,744,687 (GRCm39)	D5454V	possibly damaging	Het
Ube2f	A	G	1: 91,181,935 (GRCm39)		probably null	Het
Ubr7	T	C	12: 102,724,342 (GRCm39)	S19P	probably damaging	Het
Vav3	T	C	3: 109,428,782 (GRCm39)	V371A	probably damaging	Het
Vmn2r28	A	G	7: 5,483,806 (GRCm39)	V798A	probably damaging	Het
Vmn2r95	T	G	17: 18,664,181 (GRCm39)	C467G	probably damaging	Het
Vmn2r95	G	T	17: 18,664,182 (GRCm39)	C467F	probably damaging	Het
Vps13b	A	G	15: 35,905,455 (GRCm39)	D3325G	probably damaging	Het
Wnk2	T	C	13: 49,220,834 (GRCm39)	T1158A	probably damaging	Het
Zfp616	T	A	11: 73,976,276 (GRCm39)	N848K	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
R5443:Aldh6a1	UTSW	12	84,484,745 (GRCm39)	splice site	probably null
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'- TGTCTCCGTGGTTAAGAGCA -3'
(R):5'- CTATATGGAATCCAATGCCCTCTTTT -3'

Sequencing Primer
(F):5'- TTCCAGAGGACCCAGGTTCAATTC -3'
(R):5'- TCTGAAGACAGCTACAATGTACTCG -3'

Posted On

2018-09-12