Mutagenetix > Incidental Mutations

Incidental Mutation 'R0015:Aldh6a1'

216023

Institutional Source

Beutler Lab

Gene Symbol

Aldh6a1

Ensembl Gene

ENSMUSG00000021238

Gene Name

aldehyde dehydrogenase family 6, subfamily A1

Synonyms

Mmsdh, 1110038I05Rik

MMRRC Submission

038310-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.226) question?

Stock #

R0015 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

84430717-84451004 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 84441780 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 86 (L86F)

Ref Sequence

ENSEMBL: ENSMUSP00000152269 (fasta)

Gene Model

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

AlphaFold

Q9EQ20

Predicted Effect

probably damaging
Transcript: ENSMUST00000085192
AA Change: L111F

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000082288
Gene: ENSMUSG00000021238
AA Change: L111F

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: L86F

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

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

0.8325

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.2%

Validation Efficiency

97% (71/73)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410089E03Rik	G	A	15: 8,186,184	R408H	probably damaging	Het
A130050O07Rik	A	G	1: 137,928,656	Y23C	unknown	Het
Adcy3	G	A	12: 4,195,260		probably null	Het
Arl10	G	T	13: 54,575,957		probably benign	Het
Armc3	A	G	2: 19,296,321		probably null	Het
Astn2	T	G	4: 66,266,382		probably null	Het
Cacna1d	G	A	14: 30,114,971	T804I	probably benign	Het
Ccny	A	C	18: 9,316,682		probably benign	Het
Cdh5	C	T	8: 104,140,927	T612I	probably benign	Het
Cfap58	A	G	19: 48,029,100	M800V	probably benign	Het
Clrn1	A	T	3: 58,846,427	I171K	probably damaging	Het
Cnp	T	A	11: 100,578,908		probably null	Het
Col12a1	T	C	9: 79,651,385	T1933A	probably damaging	Het
Cwf19l2	A	G	9: 3,454,666	S660G	probably benign	Het
Dync1i2	C	A	2: 71,214,484	R13S	probably damaging	Het
Eps8l1	A	T	7: 4,477,557		probably benign	Het
Espn	T	C	4: 152,139,152	T188A	possibly damaging	Het
F2	T	C	2: 91,630,607	E260G	probably benign	Het
Fat4	T	A	3: 38,982,503	S3435T	probably damaging	Het
Fchsd1	A	G	18: 37,962,959	C533R	probably benign	Het
Fstl5	G	A	3: 76,322,191	V100M	probably damaging	Het
Gls2	T	G	10: 128,209,350	L572R	probably damaging	Het
Gm20939	A	T	17: 94,876,768	E281D	probably benign	Het
Gpr35	T	G	1: 92,983,232	L222W	probably damaging	Het
Hsf5	C	A	11: 87,657,335	H615N	probably benign	Het
Id2	C	T	12: 25,095,803	D70N	probably damaging	Het
Ints2	T	C	11: 86,249,287	T240A	probably damaging	Het
Kcnn3	A	C	3: 89,662,773	D631A	probably damaging	Het
Klhdc8a	A	G	1: 132,303,005	T203A	probably damaging	Het
Lama4	C	T	10: 39,075,436	T1059M	possibly damaging	Het
Lgals8	A	G	13: 12,447,298	L226P	probably damaging	Het
Lifr	T	A	15: 7,188,186		probably null	Het
Lonp1	T	A	17: 56,618,406	Q462L	probably benign	Het
Lypd1	A	G	1: 125,910,438	V48A	possibly damaging	Het
Mapkapk2	A	G	1: 131,097,326	I67T	possibly damaging	Het
Mbd3l1	A	T	9: 18,484,858	D93V	probably benign	Het
Mdh1b	T	C	1: 63,721,800		probably benign	Het
Myh7b	C	T	2: 155,622,286	P569L	probably damaging	Het
Ncapd3	C	A	9: 27,051,809	A470E	probably damaging	Het
Ndrg2	A	G	14: 51,910,445		probably benign	Het
Nprl2	A	T	9: 107,544,419	I209F	probably damaging	Het
Ntrk1	A	G	3: 87,791,750		probably benign	Het
Olfm2	T	C	9: 20,668,741	E268G	probably damaging	Het
Olfr884	T	A	9: 38,047,667	Y148*	probably null	Het
Pcf11	T	A	7: 92,658,317	H881L	probably benign	Het
Pde10a	A	G	17: 8,977,197	D640G	probably damaging	Het
Pde9a	G	A	17: 31,386,356		probably null	Het
Pianp	G	T	6: 125,001,540	G236V	probably damaging	Het
Polr2g	A	G	19: 8,793,652	I160T	probably damaging	Het
Ppp1r3a	A	G	6: 14,717,661	S1085P	possibly damaging	Het
Pter	G	A	2: 13,001,000	G328D	probably damaging	Het
Rad51	T	A	2: 119,116,327	M5K	probably benign	Het
Rbm43	T	A	2: 51,925,667	I181F	probably benign	Het
Rgs12	T	C	5: 35,022,776		probably benign	Het
Rnf213	A	C	11: 119,441,606	D2547A	possibly damaging	Het
Slc20a2	C	A	8: 22,535,345	A21E	probably damaging	Het
Stab2	A	G	10: 86,843,617	S2503P	probably benign	Het
Sv2b	A	T	7: 75,125,641	F479L	probably damaging	Het
Sybu	T	C	15: 44,673,500	R349G	probably damaging	Het
Tead3	T	C	17: 28,341,351	Y2C	probably damaging	Het
Tnrc6c	T	A	11: 117,721,458	N307K	probably damaging	Het
Ubxn11	C	G	4: 134,116,025		probably null	Het
Ust	T	C	10: 8,330,065		probably benign	Het
Vmn2r116	T	A	17: 23,401,849	N852K	probably benign	Het
Zgrf1	T	C	3: 127,555,397		probably benign	Het

Other mutations in Aldh6a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01700:Aldh6a1	APN	12	84439538	missense	probably damaging	1.00
IGL02213:Aldh6a1	APN	12	84432552	intron	probably benign
IGL02489:Aldh6a1	APN	12	84433972	missense	possibly damaging	0.66
IGL02806:Aldh6a1	APN	12	84439640	missense	probably damaging	1.00
IGL02930:Aldh6a1	APN	12	84433982	missense	possibly damaging	0.78
IGL03183:Aldh6a1	APN	12	84436440	splice site	probably null
PIT4378001:Aldh6a1	UTSW	12	84441872	missense	probably benign	0.01
R0506:Aldh6a1	UTSW	12	84433526	missense	probably damaging	1.00
R1458:Aldh6a1	UTSW	12	84439663	missense	probably null	0.01
R1468:Aldh6a1	UTSW	12	84441770	missense	possibly damaging	0.82
R1468:Aldh6a1	UTSW	12	84441770	missense	possibly damaging	0.82
R1579:Aldh6a1	UTSW	12	84441848	missense	possibly damaging	0.83
R2300:Aldh6a1	UTSW	12	84439529	missense	probably damaging	1.00
R4351:Aldh6a1	UTSW	12	84443761	missense	probably benign	0.00
R4447:Aldh6a1	UTSW	12	84439709	missense	possibly damaging	0.73
R5205:Aldh6a1	UTSW	12	84439644	missense	probably damaging	1.00
R5242:Aldh6a1	UTSW	12	84436383	missense	probably damaging	1.00
R5443:Aldh6a1	UTSW	12	84437971	splice site	probably null
R6849:Aldh6a1	UTSW	12	84443787	missense	probably benign	0.00
R7001:Aldh6a1	UTSW	12	84441888	missense	probably damaging	1.00
R7182:Aldh6a1	UTSW	12	84441831	missense	probably benign	0.19
R7417:Aldh6a1	UTSW	12	84441782	missense	probably benign	0.01
R7492:Aldh6a1	UTSW	12	84436866	missense	probably damaging	1.00
R7749:Aldh6a1	UTSW	12	84442081	missense	probably benign	0.00
R8511:Aldh6a1	UTSW	12	84433971	missense	possibly damaging	0.93

Predicted Primers

PCR Primer
(F):5'- TCCTCCAAGGAAGAACGAAGCTGA -3'
(R):5'- TGGGGACTTAAACCTGCTAACCTAGAA -3'

Sequencing Primer
(F):5'- CGAAGCTGAGGGAGAACTC -3'
(R):5'- CTGCTGGGGAAGTGAGGC -3'

Posted On

2014-07-17