Mutagenetix > Incidental Mutation

Incidental Mutation 'R4296:Aldh7a1'

323364

Institutional Source

Beutler Lab

Gene Symbol

Aldh7a1

Ensembl Gene

ENSMUSG00000053644

Gene Name

aldehyde dehydrogenase family 7, member A1

Synonyms

D18Wsu181e, Atq1

MMRRC Submission

041656-MU

Accession Numbers

Essential gene?

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

Stock #

R4296 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

56657794-56706112 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to T at 56678035 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000133372 (fasta)

Gene Model

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

AlphaFold

Q9DBF1

Predicted Effect

probably null
Transcript: ENSMUST00000066208

SMART Domains

Protein: ENSMUSP00000065089
Gene: ENSMUSG00000053644

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

Predicted Effect

probably null
Transcript: ENSMUST00000066208

SMART Domains

Protein: ENSMUSP00000065089
Gene: ENSMUSG00000053644

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

Predicted Effect

probably benign
Transcript: ENSMUST00000170309

SMART Domains

Protein: ENSMUSP00000127625
Gene: ENSMUSG00000053644

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000171851

Predicted Effect

probably null
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 null
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 null
Transcript: ENSMUST00000174518

SMART Domains

Protein: ENSMUSP00000133372
Gene: ENSMUSG00000053644

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

Predicted Effect

probably null
Transcript: ENSMUST00000174518

SMART Domains

Protein: ENSMUSP00000133372
Gene: ENSMUSG00000053644

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

probably benign
Transcript: ENSMUST00000174704

SMART Domains

Protein: ENSMUSP00000133970
Gene: ENSMUSG00000053644

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

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.5%
20x: 95.6%

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc2	G	T	19: 43,811,513 (GRCm39)	G993C	probably damaging	Het
Abcc2	G	C	19: 43,811,514 (GRCm39)	G993A	probably damaging	Het
Abi3bp	A	T	16: 56,488,673 (GRCm39)	H810L	probably benign	Het
Aldh1l2	T	C	10: 83,358,641 (GRCm39)	D5G	probably benign	Het
Aox1	T	A	1: 58,096,559 (GRCm39)		probably null	Het
Apbb1	G	T	7: 105,223,033 (GRCm39)	Q193K	probably benign	Het
Arl9	C	A	5: 77,154,396 (GRCm39)	N41K	probably damaging	Het
Armc1	A	G	3: 19,203,680 (GRCm39)	M82T	probably damaging	Het
Bms1	T	C	6: 118,381,960 (GRCm39)	E526G	probably damaging	Het
Cacna1a	C	T	8: 85,285,922 (GRCm39)	R809C	probably damaging	Het
Cd200r1	T	C	16: 44,610,033 (GRCm39)	I84T	probably damaging	Het
Cgrrf1	T	C	14: 47,069,812 (GRCm39)	V27A	probably damaging	Het
Clec4f	G	A	6: 83,629,557 (GRCm39)	Q334*	probably null	Het
Cpeb3	C	T	19: 37,151,389 (GRCm39)	G329D	possibly damaging	Het
Ctnnbl1	C	T	2: 157,661,490 (GRCm39)		probably null	Het
Dip2b	A	T	15: 100,079,217 (GRCm39)	M810L	probably benign	Het
Eml3	T	C	19: 8,908,773 (GRCm39)	S158P	probably damaging	Het
Eps8l2	G	T	7: 140,938,175 (GRCm39)	E470*	probably null	Het
Flt3l	A	G	7: 44,783,428 (GRCm39)	F146S	probably damaging	Het
Glmn	A	T	5: 107,706,368 (GRCm39)	V419E	possibly damaging	Het
Gm11360	T	A	13: 28,140,295 (GRCm39)	I53N	probably damaging	Het
Gpbp1l1	T	A	4: 116,444,656 (GRCm39)	V275D	possibly damaging	Het
Harbi1	T	A	2: 91,543,100 (GRCm39)	M187K	possibly damaging	Het
Has3	T	C	8: 107,605,054 (GRCm39)	V420A	possibly damaging	Het
Huwe1	C	A	X: 150,671,444 (GRCm39)	T1012K	probably benign	Het
Iqcg	G	A	16: 32,837,345 (GRCm39)		probably benign	Het
Itga4	G	A	2: 79,103,143 (GRCm39)	G111R	probably damaging	Het
Keap1	A	G	9: 21,145,282 (GRCm39)	S243P	probably damaging	Het
Kmt2a	C	T	9: 44,732,472 (GRCm39)		probably benign	Het
Lrrk2	A	G	15: 91,584,098 (GRCm39)	N286S	probably damaging	Het
Ltbp3	A	T	19: 5,806,610 (GRCm39)		probably null	Het
Mbtps1	C	T	8: 120,249,238 (GRCm39)	C684Y	possibly damaging	Het
Mcm3ap	A	T	10: 76,343,171 (GRCm39)	I1688F	probably damaging	Het
Midn	C	T	10: 79,987,553 (GRCm39)	T21I	probably damaging	Het
Naf1	C	T	8: 67,342,114 (GRCm39)	P580S	possibly damaging	Het
Nherf4	G	A	9: 44,160,158 (GRCm39)	R349C	probably benign	Het
Nlrp3	A	T	11: 59,440,487 (GRCm39)	E688V	possibly damaging	Het
Nusap1	A	G	2: 119,470,129 (GRCm39)	H259R	probably damaging	Het
Nxpe4	A	G	9: 48,310,284 (GRCm39)	T516A	probably damaging	Het
Oas1g	T	A	5: 121,017,230 (GRCm39)	T275S	probably damaging	Het
Ogdh	T	G	11: 6,299,374 (GRCm39)	F743V	probably damaging	Het
Or5aq6	T	C	2: 86,922,974 (GRCm39)	T256A	probably benign	Het
Or5h24	G	A	16: 58,919,124 (GRCm39)	T77I	unknown	Het
Or6c215	C	A	10: 129,638,169 (GRCm39)	C75F	probably damaging	Het
Or6c75	C	A	10: 129,337,339 (GRCm39)	C195*	probably null	Het
Or9i1b	A	G	19: 13,896,717 (GRCm39)	E111G	probably damaging	Het
Peg10	GGAT	GGATCCCCATCATGAT	6: 4,756,472 (GRCm39)		probably benign	Het
Piezo1	T	A	8: 123,217,866 (GRCm39)	Y819F	probably damaging	Het
Plekhg2	C	A	7: 28,070,591 (GRCm39)	G20C	probably damaging	Het
Polq	A	G	16: 36,881,663 (GRCm39)	T997A	possibly damaging	Het
Polr3a	T	A	14: 24,503,264 (GRCm39)	Q1190L	possibly damaging	Het
Ppp1r15a	T	A	7: 45,173,173 (GRCm39)	K800*	probably null	Het
Prkdc	T	A	16: 15,555,769 (GRCm39)	M2181K	probably damaging	Het
Pskh1	C	A	8: 106,639,536 (GRCm39)	A72E	probably benign	Het
Purg	T	C	8: 33,877,321 (GRCm39)	Y320H	probably damaging	Het
Rab3gap2	T	A	1: 184,988,034 (GRCm39)		probably null	Het
Rnps1	T	A	17: 24,644,089 (GRCm39)		probably benign	Het
Scgb2b21	A	T	7: 33,219,233 (GRCm39)	V57E	probably benign	Het
Sdhaf2	A	T	19: 10,502,439 (GRCm39)	I7N	probably benign	Het
Six4	A	G	12: 73,150,899 (GRCm39)	Y549H	probably damaging	Het
Slc4a10	G	T	2: 62,064,772 (GRCm39)	V209F	possibly damaging	Het
Slc4a11	C	A	2: 130,526,927 (GRCm39)	V734F	probably benign	Het
Stk4	T	A	2: 163,959,904 (GRCm39)	M27K	possibly damaging	Het
Tecrl	A	T	5: 83,461,174 (GRCm39)	C79*	probably null	Het
Tgm3	G	T	2: 129,880,333 (GRCm39)	V380L	possibly damaging	Het
Tiam2	A	T	17: 3,501,120 (GRCm39)	M920L	probably benign	Het
Tjp1	T	C	7: 64,968,237 (GRCm39)	N729S	probably damaging	Het
Tlr12	A	G	4: 128,511,581 (GRCm39)	L223P	probably damaging	Het
Tmem268	T	C	4: 63,484,005 (GRCm39)		probably null	Het
Tmpo	A	T	10: 90,998,818 (GRCm39)	I323K	possibly damaging	Het
Tmx4	T	C	2: 134,440,549 (GRCm39)	S302G	probably benign	Het
Trip11	C	A	12: 101,852,127 (GRCm39)	E361*	probably null	Het
Tspyl3	T	A	2: 153,067,076 (GRCm39)	N54I	possibly damaging	Het
Upp2	A	T	2: 58,668,021 (GRCm39)	Y220F	probably damaging	Het
Usp22	G	T	11: 61,052,290 (GRCm39)		probably null	Het
Vezt	ACTCCTCCT	ACTCCT	10: 93,809,793 (GRCm39)		probably benign	Het
Vmn1r235	G	T	17: 21,482,562 (GRCm39)	G296W	probably damaging	Het
Vmn1r89	T	C	7: 12,954,113 (GRCm39)	V94A	possibly damaging	Het
Zfp607a	A	T	7: 27,565,073 (GRCm39)	E80V	probably 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
R0462:Aldh7a1	UTSW	18	56,667,286 (GRCm39)	splice site	probably null
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
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'- AGTGGGATGTCTCAGCTTTAC -3'
(R):5'- ACCCAGGTCTGAGTGAAGAG -3'

Sequencing Primer
(F):5'- GTCTCTGGACAAATCAAGTATCAGG -3'
(R):5'- CCAGGTCTGAGTGAAGAGTCAGTTG -3'

Posted On

2015-06-20