Mutagenetix > Incidental Mutation

Incidental Mutation 'R0462:Aldh7a1'

41443

Institutional Source

Beutler Lab

Gene Symbol

Aldh7a1

Ensembl Gene

ENSMUSG00000053644

Gene Name

aldehyde dehydrogenase family 7, member A1

Synonyms

D18Wsu181e, Atq1

MMRRC Submission

038662-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.107) question?

Stock #

R0462 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

56657794-56706112 bp(-) (GRCm39)

Type of Mutation

splice site (3034 bp from exon)

DNA Base Change (assembly)

T to C at 56667286 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000066208] [ENSMUST00000172734] [ENSMUST00000174518] [ENSMUST00000174704]

AlphaFold

Q9DBF1

Predicted Effect

probably benign
Transcript: ENSMUST00000066208
AA Change: I357V

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

SMART Domains

Protein: ENSMUSP00000065089
Gene: ENSMUSG00000053644
AA Change: I357V

Domain	Start	End	E-Value	Type
Pfam:Aldedh	59	522	1.2e-130	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000168517

Predicted Effect

probably null
Transcript: ENSMUST00000170309

SMART Domains

Protein: ENSMUSP00000127625
Gene: ENSMUSG00000053644

Domain	Start	End	E-Value	Type
Pfam:Aldedh	60	155	7.3e-17	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000172734

SMART Domains

Protein: ENSMUSP00000134192
Gene: ENSMUSG00000053644

Domain	Start	End	E-Value	Type
Pfam:Aldedh	59	340	6.3e-74	PFAM
Pfam:Aldedh	338	458	3.2e-31	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000174518
AA Change: I329V

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

SMART Domains

Protein: ENSMUSP00000133372
Gene: ENSMUSG00000053644
AA Change: I329V

Domain	Start	End	E-Value	Type
Pfam:Aldedh	31	494	7.3e-130	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000174704

SMART Domains

Protein: ENSMUSP00000133970
Gene: ENSMUSG00000053644

Domain	Start	End	E-Value	Type
Pfam:Aldedh	57	293	1.4e-54	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183892

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.5%
20x: 93.2%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of subfamily 7 in the aldehyde dehydrogenase gene family. These enzymes are thought to play a major role in the detoxification of aldehydes generated by alcohol metabolism and lipid peroxidation. This particular member has homology to a previously described protein from the green garden pea, the 26g pea turgor protein. It is also involved in lysine catabolism that is known to occur in the mitochondrial matrix. Recent reports show that this protein is found both in the cytosol and the mitochondria, and the two forms likely arise from the use of alternative translation initiation sites. An additional variant encoding a different isoform has also been found for this gene. Mutations in this gene are associated with pyridoxine-dependent epilepsy. Several related pseudogenes have also been identified. [provided by RefSeq, Jan 2011]
PHENOTYPE: Mice homozygous for disruptions in this gene display a normal phenotype. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aarsd1	A	T	11: 101,304,917 (GRCm39)	D190E	probably damaging	Het
Acnat2	A	G	4: 49,383,084 (GRCm39)		probably null	Het
Acot10	T	G	15: 20,666,712 (GRCm39)	T10P	possibly damaging	Het
Alkbh7	G	A	17: 57,305,443 (GRCm39)	V87I	probably benign	Het
Ano2	A	T	6: 125,689,238 (GRCm39)	H121L	probably benign	Het
Apob	A	T	12: 8,050,896 (GRCm39)	Y1040F	probably damaging	Het
Arhgap25	A	T	6: 87,436,942 (GRCm39)	V636E	possibly damaging	Het
Atad2b	A	T	12: 4,991,973 (GRCm39)	T191S	possibly damaging	Het
Atpsckmt	T	C	15: 31,617,018 (GRCm39)	M161T	probably damaging	Het
Btbd9	A	T	17: 30,749,191 (GRCm39)	V41D	possibly damaging	Het
Bzw2	G	A	12: 36,174,023 (GRCm39)	R25C	probably damaging	Het
Carmil1	T	C	13: 24,206,494 (GRCm39)	S1326G	probably benign	Het
Cdh18	A	G	15: 23,366,971 (GRCm39)	R226G	probably damaging	Het
Cdh3	A	G	8: 107,282,012 (GRCm39)	N800S	possibly damaging	Het
Cep152	A	T	2: 125,425,854 (GRCm39)	V837E	possibly damaging	Het
Cep85	G	A	4: 133,858,732 (GRCm39)	T713M	possibly damaging	Het
Chd7	T	C	4: 8,850,821 (GRCm39)	Y1736H	probably damaging	Het
Chst3	T	C	10: 60,022,535 (GRCm39)	E104G	probably benign	Het
Cic	T	A	7: 24,986,565 (GRCm39)	S1299T	probably damaging	Het
Cic	C	A	7: 24,986,566 (GRCm39)	S1299Y	probably damaging	Het
Cmah	T	A	13: 24,620,724 (GRCm39)	S319R	possibly damaging	Het
Cnbd1	A	G	4: 18,895,044 (GRCm39)	F233L	probably benign	Het
Cpne5	T	C	17: 29,395,163 (GRCm39)	E251G	probably benign	Het
Csf2rb2	G	A	15: 78,169,373 (GRCm39)	P485L	probably damaging	Het
Dimt1	T	C	13: 107,085,264 (GRCm39)	M70T	possibly damaging	Het
Dlk2	A	G	17: 46,614,024 (GRCm39)	*383W	probably null	Het
Dnah2	G	A	11: 69,350,027 (GRCm39)	R2369C	probably damaging	Het
Dock2	A	G	11: 34,218,052 (GRCm39)	F1173L	possibly damaging	Het
Dok7	A	G	5: 35,223,806 (GRCm39)	H115R	possibly damaging	Het
Dpy19l1	A	G	9: 24,325,645 (GRCm39)	I720T	probably benign	Het
Eps8	A	T	6: 137,491,309 (GRCm39)	D356E	probably benign	Het
Exoc1	A	G	5: 76,691,464 (GRCm39)	N263D	probably benign	Het
Fbxl3	T	C	14: 103,320,322 (GRCm39)	D375G	probably damaging	Het
Fcgbpl1	A	T	7: 27,836,765 (GRCm39)	D228V	probably damaging	Het
Flg2	A	T	3: 93,108,744 (GRCm39)	E257D	probably benign	Het
Fstl4	A	G	11: 53,077,229 (GRCm39)	D662G	probably benign	Het
Gbp10	G	T	5: 105,366,390 (GRCm39)	Q505K	possibly damaging	Het
Gemin2	C	T	12: 59,060,305 (GRCm39)	P15S	probably damaging	Het
Grhl2	A	G	15: 37,344,919 (GRCm39)	M514V	probably benign	Het
Hgs	A	G	11: 120,369,970 (GRCm39)	N413D	possibly damaging	Het
Il12rb2	T	C	6: 67,280,594 (GRCm39)	S538G	possibly damaging	Het
Kdm5a	A	G	6: 120,379,561 (GRCm39)	D623G	probably damaging	Het
Kifbp	A	T	10: 62,395,235 (GRCm39)	I469N	probably damaging	Het
Matk	G	T	10: 81,095,527 (GRCm39)	V116F	probably damaging	Het
Mcm3	T	C	1: 20,875,556 (GRCm39)	T694A	probably benign	Het
Mctp1	C	A	13: 76,949,520 (GRCm39)	H260Q	probably damaging	Het
Mios	T	A	6: 8,215,743 (GRCm39)	I313K	probably benign	Het
Muc4	T	A	16: 32,582,910 (GRCm39)	Y2562N	possibly damaging	Het
Naip5	T	A	13: 100,358,240 (GRCm39)	I999F	probably damaging	Het
Or11h4	T	A	14: 50,974,554 (GRCm39)	I22L	probably benign	Het
Or14j7	A	T	17: 38,234,667 (GRCm39)	D70V	probably damaging	Het
Or1x6	A	G	11: 50,939,336 (GRCm39)	Y134C	probably damaging	Het
Or52a5	A	T	7: 103,426,770 (GRCm39)	S261T	probably benign	Het
Or7g12	A	T	9: 18,900,198 (GRCm39)	I305F	probably benign	Het
Or8g52	T	A	9: 39,630,706 (GRCm39)	F61Y	probably benign	Het
Pafah1b1	A	G	11: 74,568,541 (GRCm39)	V396A	probably benign	Het
Pard6b	T	A	2: 167,929,467 (GRCm39)	I91N	possibly damaging	Het
Pdzd2	T	C	15: 12,592,246 (GRCm39)	S133G	probably damaging	Het
Plcg2	T	G	8: 118,312,044 (GRCm39)	S445R	probably benign	Het
Plekhd1	G	T	12: 80,768,352 (GRCm39)	V396L	probably damaging	Het
Ppp4r2	A	G	6: 100,843,518 (GRCm39)	D294G	possibly damaging	Het
Ppwd1	T	C	13: 104,359,468 (GRCm39)		probably null	Het
Prr22	A	G	17: 57,077,551 (GRCm39)		probably benign	Het
Psme4	A	G	11: 30,798,117 (GRCm39)	D1370G	probably damaging	Het
Rac3	T	A	11: 120,613,684 (GRCm39)	V86D	probably damaging	Het
Rnf207	T	C	4: 152,397,829 (GRCm39)	S335G	possibly damaging	Het
Rxfp3	A	G	15: 11,037,063 (GRCm39)	L103P	probably damaging	Het
Slc17a3	C	T	13: 24,039,841 (GRCm39)	S293F	probably damaging	Het
Smpdl3a	G	T	10: 57,670,827 (GRCm39)	C17F	probably benign	Het
Spaca7b	T	A	8: 11,711,749 (GRCm39)		probably benign	Het
Spata31g1	T	A	4: 42,973,429 (GRCm39)	F921I	probably benign	Het
Spen	A	T	4: 141,200,962 (GRCm39)	I2555N	probably damaging	Het
Srpk2	G	T	5: 23,723,424 (GRCm39)	T564K	probably damaging	Het
Stard4	C	T	18: 33,338,202 (GRCm39)	R116H	probably damaging	Het
Supt7l	A	T	5: 31,677,640 (GRCm39)	S175R	probably damaging	Het
Sycp1	A	T	3: 102,726,422 (GRCm39)	Y932N	possibly damaging	Het
Tas2r122	T	C	6: 132,688,141 (GRCm39)	M251V	probably benign	Het
Tbx15	A	T	3: 99,223,634 (GRCm39)	E274V	probably damaging	Het
Tex52	A	G	6: 128,361,917 (GRCm39)	E298G	probably benign	Het
Tmem101	T	C	11: 102,046,693 (GRCm39)	M59V	probably benign	Het
Tmem132b	T	C	5: 125,862,990 (GRCm39)	V665A	probably damaging	Het
Trim23	T	C	13: 104,334,541 (GRCm39)	V347A	probably damaging	Het
Ush2a	A	G	1: 188,643,136 (GRCm39)	H4166R	probably benign	Het
Vmn2r101	G	T	17: 19,810,431 (GRCm39)	V406L	probably benign	Het
Vrk3	A	G	7: 44,413,624 (GRCm39)	D166G	possibly damaging	Het
Washc4	T	A	10: 83,392,777 (GRCm39)	M259K	probably benign	Het
Wdr70	T	C	15: 8,108,645 (GRCm39)	D167G	probably benign	Het
Zfp1005	A	G	2: 150,111,122 (GRCm39)	E604G	possibly damaging	Het
Zfp28	A	T	7: 6,395,239 (GRCm39)	Q248L	possibly damaging	Het
Zfp39	A	G	11: 58,781,232 (GRCm39)	I510T	probably benign	Het
Zfp710	T	A	7: 79,740,089 (GRCm39)	*646R	probably null	Het
Zfp90	C	T	8: 107,151,892 (GRCm39)	S535L	possibly damaging	Het
Zfp949	C	T	9: 88,450,787 (GRCm39)	T119I	possibly damaging	Het

Other mutations in Aldh7a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02690:Aldh7a1	APN	18	56,661,427 (GRCm39)	splice site	probably benign
IGL02887:Aldh7a1	APN	18	56,675,288 (GRCm39)	intron	probably benign
R0595:Aldh7a1	UTSW	18	56,679,965 (GRCm39)	splice site	probably benign
R0657:Aldh7a1	UTSW	18	56,670,269 (GRCm39)	splice site	probably benign
R0947:Aldh7a1	UTSW	18	56,693,910 (GRCm39)	splice site	probably null
R1295:Aldh7a1	UTSW	18	56,680,022 (GRCm39)	critical splice acceptor site	probably null
R1385:Aldh7a1	UTSW	18	56,675,357 (GRCm39)	missense	probably damaging	1.00
R1403:Aldh7a1	UTSW	18	56,692,341 (GRCm39)	nonsense	probably null
R1403:Aldh7a1	UTSW	18	56,692,341 (GRCm39)	nonsense	probably null
R1517:Aldh7a1	UTSW	18	56,665,133 (GRCm39)	missense	probably damaging	0.99
R1550:Aldh7a1	UTSW	18	56,683,454 (GRCm39)	missense	possibly damaging	0.49
R3552:Aldh7a1	UTSW	18	56,683,364 (GRCm39)	splice site	probably null
R3953:Aldh7a1	UTSW	18	56,681,577 (GRCm39)	missense	probably damaging	0.99
R4124:Aldh7a1	UTSW	18	56,670,395 (GRCm39)	intron	probably benign
R4296:Aldh7a1	UTSW	18	56,678,035 (GRCm39)	critical splice donor site	probably null
R4355:Aldh7a1	UTSW	18	56,681,566 (GRCm39)	missense	probably null	0.09
R4549:Aldh7a1	UTSW	18	56,665,066 (GRCm39)	missense	probably benign	0.09
R4851:Aldh7a1	UTSW	18	56,665,088 (GRCm39)	missense	possibly damaging	0.95
R5288:Aldh7a1	UTSW	18	56,667,325 (GRCm39)	missense	possibly damaging	0.85
R5384:Aldh7a1	UTSW	18	56,667,325 (GRCm39)	missense	possibly damaging	0.85
R5385:Aldh7a1	UTSW	18	56,667,325 (GRCm39)	missense	possibly damaging	0.85
R5547:Aldh7a1	UTSW	18	56,661,356 (GRCm39)	missense	probably damaging	1.00
R6505:Aldh7a1	UTSW	18	56,660,068 (GRCm39)	missense	probably damaging	1.00
R7373:Aldh7a1	UTSW	18	56,675,389 (GRCm39)	missense	possibly damaging	0.48
R7861:Aldh7a1	UTSW	18	56,681,525 (GRCm39)	missense	probably benign	0.03
R8205:Aldh7a1	UTSW	18	56,678,070 (GRCm39)	missense	probably damaging	1.00
R8925:Aldh7a1	UTSW	18	56,660,060 (GRCm39)	missense	probably benign
R8927:Aldh7a1	UTSW	18	56,660,060 (GRCm39)	missense	probably benign
Z1177:Aldh7a1	UTSW	18	56,660,063 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GAAAACATGTCATCGAATGCCACTCAG -3'
(R):5'- AGCTTAGCAGGTCAGGTTCTTAGAAACT -3'

Sequencing Primer
(F):5'- GTAACACCAGCTGTCAAGTG -3'
(R):5'- atgaacttctgattttcctgcc -3'

Posted On

2013-05-23