Mutagenetix > Incidental Mutation

Incidental Mutation 'R9643:Aldh9a1'

726627

Institutional Source

Beutler Lab

Gene Symbol

Aldh9a1

Ensembl Gene

ENSMUSG00000026687

Gene Name

aldehyde dehydrogenase 9, subfamily A1

Synonyms

ESTM40, TMABA-DH

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9643 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

167177560-167196100 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 167184904 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 272 (V272A)

Ref Sequence

ENSEMBL: ENSMUSP00000028004 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028004]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000028004
AA Change: V272A

PolyPhen 2 Score 0.848 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000028004
Gene: ENSMUSG00000026687
AA Change: V272A

Domain	Start	End	E-Value	Type
Pfam:Aldedh	46	507	1.5e-174	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This protein belongs to the aldehyde dehydrogenase family of proteins. It has a high activity for oxidation of gamma-aminobutyraldehyde and other amino aldehydes. The enzyme catalyzes the dehydrogenation of gamma-aminobutyraldehyde to gamma-aminobutyric acid (GABA). This isozyme is a tetramer of identical 54-kD subunits. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	A	G	12: 71,211,189 (GRCm39)	D641G	possibly damaging	Het
4921539E11Rik	T	C	4: 103,092,666 (GRCm39)	E272G	unknown	Het
Abca16	C	T	7: 120,065,023 (GRCm39)	T560I	possibly damaging	Het
Adcy3	A	G	12: 4,259,455 (GRCm39)	R911G	probably damaging	Het
Adgra2	A	G	8: 27,612,031 (GRCm39)	T1327A	possibly damaging	Het
Ankfn1	T	A	11: 89,396,167 (GRCm39)	H193L	probably benign	Het
Asb1	A	G	1: 91,480,116 (GRCm39)	R280G	probably benign	Het
Atg14	G	T	14: 47,788,780 (GRCm39)	A191E	probably damaging	Het
Bcl9	G	T	3: 97,112,960 (GRCm39)	P1165Q	possibly damaging	Het
Cdk8	G	A	5: 146,235,664 (GRCm39)	A264T	probably damaging	Het
Cep152	G	A	2: 125,406,150 (GRCm39)	Q1461*	probably null	Het
Cep170b	G	T	12: 112,704,045 (GRCm39)	W659L	probably damaging	Het
Cep57l1	T	C	10: 41,597,626 (GRCm39)	E335G	probably damaging	Het
Cpt1b	T	A	15: 89,303,229 (GRCm39)	T609S	possibly damaging	Het
Cyp2c50	A	T	19: 40,086,512 (GRCm39)	I359F	probably damaging	Het
Dpf1	T	A	7: 29,013,742 (GRCm39)	N272K	probably damaging	Het
Fsip2	A	G	2: 82,821,984 (GRCm39)	T5906A	possibly damaging	Het
Gin1	A	T	1: 97,712,498 (GRCm39)	R220S	probably benign	Het
Gm30083	T	C	14: 33,736,861 (GRCm39)	Y32C	probably benign	Het
Gm45861	A	G	8: 27,994,083 (GRCm39)	E445G	unknown	Het
Golga2	T	C	2: 32,193,874 (GRCm39)	S567P	probably damaging	Het
Gpr89	A	G	3: 96,780,813 (GRCm39)	V353A	probably damaging	Het
Grin2d	T	C	7: 45,506,948 (GRCm39)	K509R	possibly damaging	Het
Hip1r	T	C	5: 124,139,319 (GRCm39)	I904T	probably damaging	Het
Ikbke	T	A	1: 131,187,022 (GRCm39)		probably null	Het
Il1r1	T	A	1: 40,341,532 (GRCm39)	C315S	probably damaging	Het
Ireb2	T	A	9: 54,789,730 (GRCm39)	F135I	possibly damaging	Het
Jakmip3	C	T	7: 138,621,915 (GRCm39)	L272F	probably damaging	Het
Kntc1	T	A	5: 123,949,440 (GRCm39)	F1937Y	probably damaging	Het
Krtap4-16	G	A	11: 99,742,271 (GRCm39)	T43I	unknown	Het
Lats2	A	G	14: 57,936,875 (GRCm39)	V538A	possibly damaging	Het
Megf8	T	A	7: 25,046,907 (GRCm39)	W1597R	probably damaging	Het
Mideas	A	T	12: 84,219,885 (GRCm39)	D356E	probably benign	Het
Mtus2	A	T	5: 148,014,025 (GRCm39)	T273S	probably benign	Het
Nsun6	T	A	2: 15,047,106 (GRCm39)	E81D	probably benign	Het
Or13c7	G	A	4: 43,855,183 (GRCm39)	M291I	probably benign	Het
Or4c125	A	T	2: 89,170,517 (GRCm39)	I43K	probably damaging	Het
Or56a41	A	G	7: 104,740,445 (GRCm39)	F134L	probably benign	Het
Or8c10	A	G	9: 38,278,912 (GRCm39)	I13M	probably damaging	Het
Or8k23	A	G	2: 86,186,408 (GRCm39)	F106S	probably benign	Het
Oxsm	T	C	14: 16,241,000 (GRCm38)	T350A	probably damaging	Het
Pard3	G	A	8: 128,115,900 (GRCm39)	R663Q	possibly damaging	Het
Pcdh15	T	A	10: 74,479,335 (GRCm39)	I482N	probably benign	Het
Pcsk2	G	A	2: 143,655,501 (GRCm39)	D562N	probably damaging	Het
Pdzk1ip1	T	C	4: 114,950,177 (GRCm39)	M146T	probably benign	Het
Plch1	T	A	3: 63,660,747 (GRCm39)	T279S		Het
Plec	C	T	15: 76,058,177 (GRCm39)	R3920Q	probably damaging	Het
Polr2g	A	T	19: 8,774,631 (GRCm39)	V84E	probably damaging	Het
Ppm1m	C	T	9: 106,075,104 (GRCm39)	R147H	probably damaging	Het
Ppp2r2c	G	T	5: 37,080,383 (GRCm39)	V48L	probably damaging	Het
Pramel25	T	A	4: 143,521,855 (GRCm39)	C490*	probably null	Het
Prcp	A	T	7: 92,524,598 (GRCm39)	T18S	probably benign	Het
Rapsn	A	G	2: 90,872,268 (GRCm39)	S201G	probably damaging	Het
Rragd	A	G	4: 33,012,998 (GRCm39)	T332A	probably benign	Het
Scrn2	A	G	11: 96,921,342 (GRCm39)	D34G	probably damaging	Het
Serpinb6c	T	C	13: 34,079,303 (GRCm39)	T130A	probably benign	Het
Setd1b	G	A	5: 123,298,401 (GRCm39)	G1479D	probably damaging	Het
Shd	T	A	17: 56,283,268 (GRCm39)	L299Q	probably damaging	Het
Slc5a4b	C	T	10: 75,945,896 (GRCm39)	V55I	probably benign	Het
Smg1	C	A	7: 117,755,933 (GRCm39)	R2405L	unknown	Het
Stxbp2	A	T	8: 3,686,392 (GRCm39)	M332L		Het
Tedc2	A	G	17: 24,435,328 (GRCm39)	C354R	probably benign	Het
Tek	A	T	4: 94,692,523 (GRCm39)	R210S	possibly damaging	Het
Tnk2	T	A	16: 32,489,018 (GRCm39)	M286K	probably damaging	Het
Ttc21a	G	A	9: 119,771,686 (GRCm39)	V162I	probably benign	Het
Usf3	T	A	16: 44,042,170 (GRCm39)	C2217S	possibly damaging	Het
Wdr72	C	T	9: 74,118,041 (GRCm39)	P930S	probably damaging	Het
Zan	A	G	5: 137,456,812 (GRCm39)	V1308A	unknown	Het
Zfp521	C	T	18: 13,978,922 (GRCm39)	R497Q	probably damaging	Het
Zfp799	T	A	17: 33,039,435 (GRCm39)	K277M	probably damaging	Het
Zfp949	C	T	9: 88,436,500 (GRCm39)		probably benign	Het

Other mutations in Aldh9a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01126:Aldh9a1	APN	1	167,192,143 (GRCm39)	missense	probably benign	0.21
IGL01432:Aldh9a1	APN	1	167,183,354 (GRCm39)	missense	probably damaging	1.00
IGL02370:Aldh9a1	APN	1	167,184,101 (GRCm39)	missense	probably damaging	1.00
Yummy	UTSW	1	167,180,128 (GRCm39)	missense	probably damaging	1.00
R0033:Aldh9a1	UTSW	1	167,184,140 (GRCm39)	missense	probably damaging	0.99
R0197:Aldh9a1	UTSW	1	167,189,416 (GRCm39)	missense	probably damaging	0.99
R0520:Aldh9a1	UTSW	1	167,188,960 (GRCm39)	splice site	probably benign
R0836:Aldh9a1	UTSW	1	167,177,824 (GRCm39)	missense	probably benign	0.03
R1224:Aldh9a1	UTSW	1	167,180,227 (GRCm39)	missense	probably damaging	0.99
R1340:Aldh9a1	UTSW	1	167,184,913 (GRCm39)	missense	probably benign	0.00
R1829:Aldh9a1	UTSW	1	167,189,423 (GRCm39)	missense	probably benign	0.07
R2849:Aldh9a1	UTSW	1	167,180,197 (GRCm39)	missense	probably damaging	0.98
R4937:Aldh9a1	UTSW	1	167,189,376 (GRCm39)	missense	probably damaging	0.96
R4965:Aldh9a1	UTSW	1	167,193,358 (GRCm39)	missense	probably damaging	1.00
R5065:Aldh9a1	UTSW	1	167,180,128 (GRCm39)	missense	probably damaging	1.00
R6578:Aldh9a1	UTSW	1	167,183,328 (GRCm39)	missense	probably damaging	1.00
R7111:Aldh9a1	UTSW	1	167,182,021 (GRCm39)	missense	probably benign	0.31
R7184:Aldh9a1	UTSW	1	167,184,965 (GRCm39)	missense	probably benign	0.05
R7531:Aldh9a1	UTSW	1	167,177,895 (GRCm39)	missense	probably benign
R7673:Aldh9a1	UTSW	1	167,189,119 (GRCm39)	missense	probably benign	0.35
R8026:Aldh9a1	UTSW	1	167,180,236 (GRCm39)	critical splice donor site	probably null
R8147:Aldh9a1	UTSW	1	167,184,949 (GRCm39)	missense	probably damaging	1.00
R8826:Aldh9a1	UTSW	1	167,184,119 (GRCm39)	missense	probably damaging	1.00
R9441:Aldh9a1	UTSW	1	167,177,919 (GRCm39)	missense	probably benign	0.34

Predicted Primers

PCR Primer
(F):5'- CAGGGTTTGACGTGAAAGTTC -3'
(R):5'- ACTTCTCAAAGTGGGTCCAG -3'

Sequencing Primer
(F):5'- CTGTAAATTCTCATAAGCGTTTGCC -3'
(R):5'- CTCAAAGTGGGTCCAGGGTGTC -3'

Posted On

2022-10-06