Mutagenetix > Incidental Mutation

Incidental Mutation 'R7001:Aldh6a1'

544555

Institutional Source

Beutler Lab

Gene Symbol

Aldh6a1

Ensembl Gene

ENSMUSG00000021238

Gene Name

aldehyde dehydrogenase family 6, subfamily A1

Synonyms

Mmsdh, 1110038I05Rik

MMRRC Submission

045106-MU

Accession Numbers

Essential gene?

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

Stock #

R7001 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

84477491-84497778 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 84488662 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Proline at position 75 (T75P)

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: T75P

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

SMART Domains

Protein: ENSMUSP00000082288
Gene: ENSMUSG00000021238
AA Change: T75P

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 damaging
Transcript: ENSMUST00000220491
AA Change: T50P

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

Predicted Effect

probably benign
Transcript: ENSMUST00000221969

Meta Mutation Damage Score

0.4534

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.8%

Validation Efficiency

100% (56/56)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	C	A	3: 137,771,272 (GRCm39)	Q154K	probably benign	Het
Ank2	T	A	3: 126,871,230 (GRCm39)	H98L	probably damaging	Het
Ankib1	A	G	5: 3,744,781 (GRCm39)	F800S	probably benign	Het
Arhgap10	A	T	8: 78,091,717 (GRCm39)	M434K	possibly damaging	Het
Cap1	A	T	4: 122,758,408 (GRCm39)	F257L	probably benign	Het
Cdt1	T	A	8: 123,299,249 (GRCm39)	H510Q	probably damaging	Het
Clca3b	A	C	3: 144,533,733 (GRCm39)	D547E	possibly damaging	Het
Col24a1	T	C	3: 145,004,627 (GRCm39)	V35A	probably benign	Het
Cyp2j13	A	T	4: 95,945,112 (GRCm39)	N305K	probably damaging	Het
D3Ertd751e	T	A	3: 41,712,844 (GRCm39)		probably null	Het
D6Ertd527e	G	A	6: 87,088,194 (GRCm39)	G119D	unknown	Het
Ddc	T	C	11: 11,774,870 (GRCm39)		probably null	Het
Dnah12	A	T	14: 26,601,681 (GRCm39)	Y3713F	probably damaging	Het
Dock8	T	A	19: 25,077,041 (GRCm39)	S504T	probably benign	Het
Farp2	T	C	1: 93,547,906 (GRCm39)	F941L	possibly damaging	Het
Farp2	A	G	1: 93,547,952 (GRCm39)	N956S	possibly damaging	Het
Fbxo3	T	A	2: 103,881,569 (GRCm39)	H300Q	probably damaging	Het
Fcgrt	T	C	7: 44,751,466 (GRCm39)	T131A	probably benign	Het
Fndc7	G	A	3: 108,783,964 (GRCm39)	A215V	probably benign	Het
Frem1	T	C	4: 82,904,798 (GRCm39)	E890G	probably benign	Het
Fsip2	C	A	2: 82,817,269 (GRCm39)	P4334H	probably damaging	Het
Gcdh	C	A	8: 85,617,540 (GRCm39)	V227L	probably benign	Het
Gm8267	A	C	14: 44,960,385 (GRCm39)	M120R	possibly damaging	Het
Gpatch2l	G	A	12: 86,290,958 (GRCm39)	R47H	probably damaging	Het
Lasp1	T	G	11: 97,697,659 (GRCm39)	H26Q	probably damaging	Het
Lrrcc1	T	A	3: 14,605,155 (GRCm39)	I297N	probably damaging	Het
Map1b	A	T	13: 99,567,101 (GRCm39)	N1873K	unknown	Het
Map2	A	G	1: 66,454,646 (GRCm39)	I1179V	probably benign	Het
Mtss1	A	C	15: 58,820,183 (GRCm39)		probably benign	Het
Mtus2	A	G	5: 148,214,438 (GRCm39)	E28G	probably damaging	Het
Muc6	G	A	7: 141,217,320 (GRCm39)	T2386I	probably damaging	Het
Myo3a	G	T	2: 22,337,188 (GRCm39)	V362L	probably benign	Het
N6amt1	G	A	16: 87,151,180 (GRCm39)	V14M	probably benign	Het
Nav1	A	T	1: 135,382,349 (GRCm39)		probably null	Het
Nol6	A	G	4: 41,121,279 (GRCm39)	S326P	probably benign	Het
Olr1	T	A	6: 129,465,074 (GRCm39)	E100V	probably damaging	Het
Or52ab4	A	G	7: 102,987,428 (GRCm39)	S56G	possibly damaging	Het
Or8k37	A	T	2: 86,469,495 (GRCm39)	S186T	probably benign	Het
Otop3	T	C	11: 115,230,479 (GRCm39)	Y119H	probably damaging	Het
Prb1b	C	T	6: 132,289,527 (GRCm39)	G99E	unknown	Het
Ryr2	A	T	13: 11,809,491 (GRCm39)	M778K	probably damaging	Het
Serpina3n	G	T	12: 104,375,184 (GRCm39)	M85I	probably benign	Het
Serpine2	A	G	1: 79,772,748 (GRCm39)	F390L	probably damaging	Het
Sf3b1	A	G	1: 55,040,205 (GRCm39)	V591A	probably damaging	Het
Sf3b1	A	G	1: 55,053,640 (GRCm39)		probably null	Het
Slc26a5	C	T	5: 22,016,334 (GRCm39)	V646I	probably damaging	Het
Slitrk3	T	A	3: 72,957,942 (GRCm39)	K277*	probably null	Het
Sv2c	A	G	13: 96,118,461 (GRCm39)	S463P	probably benign	Het
Tbc1d4	G	A	14: 101,696,185 (GRCm39)	T858M	probably benign	Het
Tbx18	T	A	9: 87,609,457 (GRCm39)	I193F	probably damaging	Het
Tm6sf2	A	C	8: 70,530,982 (GRCm39)	D245A	probably damaging	Het
Unc119	T	C	11: 78,239,380 (GRCm39)	Y234H	probably damaging	Het
Wrn	A	T	8: 33,842,157 (GRCm39)	S46T	probably benign	Het
Zfp729a	A	T	13: 67,768,468 (GRCm39)	I587K	probably benign	Het
Zfp872	C	A	9: 22,111,912 (GRCm39)	H464N	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
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
R6849:Aldh6a1	UTSW	12	84,490,561 (GRCm39)	missense	probably benign	0.00
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'- GACCAATGTCCTTCTACGTTGTAG -3'
(R):5'- TGGGGACTTAAACCTGCTAAC -3'

Sequencing Primer
(F):5'- GCTCTGAAGAGGTGACCAACATAC -3'
(R):5'- CCTGCTAACCTAGAATTTTGGGAGC -3'

Posted On

2019-05-13