Mutagenetix > Incidental Mutation

Incidental Mutation 'R1517:Aldh7a1'

167143

Institutional Source

Beutler Lab

Gene Symbol

Aldh7a1

Ensembl Gene

ENSMUSG00000053644

Gene Name

aldehyde dehydrogenase family 7, member A1

Synonyms

D18Wsu181e, Atq1

MMRRC Submission

039563-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.110) question?

Stock #

R1517 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

56657794-56706112 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 56665133 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 385 (I385F)

Ref Sequence

ENSEMBL: ENSMUSP00000133372 (fasta)

Gene Model

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

AlphaFold

Q9DBF1

Predicted Effect

probably damaging
Transcript: ENSMUST00000066208
AA Change: I413F

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000065089
Gene: ENSMUSG00000053644
AA Change: I413F

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000168517

Predicted Effect

probably damaging
Transcript: ENSMUST00000172734
AA Change: I349F

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000134192
Gene: ENSMUSG00000053644
AA Change: I349F

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 damaging
Transcript: ENSMUST00000174518
AA Change: I385F

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000133372
Gene: ENSMUSG00000053644
AA Change: I385F

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

Meta Mutation Damage Score

0.7452

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.9%
20x: 91.9%

Validation Efficiency

100% (67/67)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	T	C	11: 109,862,640 (GRCm39)	K375R	possibly damaging	Het
Adrb2	T	C	18: 62,311,871 (GRCm39)	N318S	probably damaging	Het
Akap5	A	C	12: 76,376,036 (GRCm39)	E489D	possibly damaging	Het
Astn1	T	A	1: 158,407,146 (GRCm39)		probably benign	Het
Atp7b	T	A	8: 22,487,374 (GRCm39)	T1314S	probably damaging	Het
Bhmt2	C	A	13: 93,798,847 (GRCm39)	G325C	probably damaging	Het
Brpf1	T	A	6: 113,296,050 (GRCm39)	V781E	probably benign	Het
Cacna1c	T	A	6: 118,575,720 (GRCm39)	Y1860F	probably benign	Het
Ccdc7a	T	C	8: 129,788,162 (GRCm39)	T56A	probably damaging	Het
Cep78	A	G	19: 15,937,027 (GRCm39)	S560P	probably damaging	Het
Cnot1	G	A	8: 96,469,841 (GRCm39)	T1343I	probably benign	Het
Coq10b	T	C	1: 55,103,416 (GRCm39)	S65P	probably damaging	Het
Creld1	T	A	6: 113,466,745 (GRCm39)	C243S	probably damaging	Het
Cst12	A	T	2: 148,635,172 (GRCm39)	I121F	possibly damaging	Het
Cyp26a1	A	C	19: 37,687,308 (GRCm39)	E165A	probably benign	Het
Cyp2d12	T	G	15: 82,442,337 (GRCm39)	M273R	probably damaging	Het
Dnajb7	T	A	15: 81,291,657 (GRCm39)	S227C	probably damaging	Het
Evc	T	A	5: 37,476,379 (GRCm39)	Q390L	probably damaging	Het
F830016B08Rik	T	A	18: 60,433,970 (GRCm39)	L351*	probably null	Het
Fga	T	C	3: 82,939,145 (GRCm39)	S507P	probably benign	Het
Gba1	A	T	3: 89,113,455 (GRCm39)	Y239F	probably damaging	Het
Golga2	C	A	2: 32,195,996 (GRCm39)	Y843*	probably null	Het
Gria4	C	A	9: 4,793,865 (GRCm39)	L64F	probably damaging	Het
Hectd3	A	G	4: 116,860,191 (GRCm39)	Y803C	probably damaging	Het
Hmcn1	T	C	1: 150,545,172 (GRCm39)	K2812E	probably damaging	Het
Il17b	T	G	18: 61,823,316 (GRCm39)	V50G	probably damaging	Het
Itga2b	A	T	11: 102,357,151 (GRCm39)	L243*	probably null	Het
Kank4	C	A	4: 98,667,266 (GRCm39)	V394L	possibly damaging	Het
Kat14	T	A	2: 144,215,711 (GRCm39)	D65E	probably benign	Het
Kcnh3	T	C	15: 99,136,090 (GRCm39)	Y696H	probably damaging	Het
Kctd19	C	A	8: 106,122,008 (GRCm39)	D180Y	probably damaging	Het
Klra8	A	C	6: 130,092,603 (GRCm39)	S233A	probably benign	Het
Masp2	A	T	4: 148,696,563 (GRCm39)	T387S	possibly damaging	Het
Midn	C	A	10: 79,989,957 (GRCm39)	T275N	probably damaging	Het
Mis18bp1	A	G	12: 65,180,587 (GRCm39)	F965L	probably benign	Het
Myo3a	G	T	2: 22,287,445 (GRCm39)	V186L	probably damaging	Het
Ncoa2	T	A	1: 13,235,281 (GRCm39)	N884I	probably benign	Het
Or10d4	T	C	9: 39,581,016 (GRCm39)	I221T	probably damaging	Het
Or13c25	A	T	4: 52,911,502 (GRCm39)	C97*	probably null	Het
Or8k35	T	A	2: 86,424,948 (GRCm39)	T75S	probably damaging	Het
Osr2	T	C	15: 35,300,813 (GRCm39)	V123A	probably benign	Het
P4ha2	A	G	11: 54,008,471 (GRCm39)	H226R	probably benign	Het
Pcdhb16	T	A	18: 37,611,151 (GRCm39)	V37E	probably benign	Het
Pcdhb18	T	A	18: 37,622,673 (GRCm39)	M1K	probably null	Het
Pcsk1	T	A	13: 75,246,166 (GRCm39)	Y181*	probably null	Het
Pros1	G	T	16: 62,705,875 (GRCm39)	C63F	probably damaging	Het
Ranbp3l	T	A	15: 9,065,081 (GRCm39)	C353*	probably null	Het
Rev3l	T	C	10: 39,714,439 (GRCm39)	Y2388H	probably benign	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Rpl12-ps1	G	T	1: 36,997,458 (GRCm39)		noncoding transcript	Het
Rttn	T	C	18: 89,131,474 (GRCm39)	V1951A	probably benign	Het
Scn9a	G	A	2: 66,335,371 (GRCm39)		probably benign	Het
Sdk1	T	C	5: 142,113,591 (GRCm39)	F1546S	probably damaging	Het
Sh3glb2	C	T	2: 30,244,987 (GRCm39)	R71Q	probably damaging	Het
Slc30a6	T	C	17: 74,715,842 (GRCm39)	F101L	probably benign	Het
Snrpd1	T	C	18: 10,626,913 (GRCm39)	I60T	probably damaging	Het
Sox10	T	A	15: 79,043,378 (GRCm39)	E218D	probably benign	Het
Tekt3	C	A	11: 62,961,316 (GRCm39)	H162N	probably damaging	Het
Tnfsf13	T	C	11: 69,575,564 (GRCm39)	S246G	possibly damaging	Het
Trim10	T	A	17: 37,183,346 (GRCm39)	I214N	probably damaging	Het
Trp63	C	A	16: 25,708,003 (GRCm39)	D566E	probably damaging	Het
Uck2	T	C	1: 167,062,293 (GRCm39)	D156G	probably damaging	Het
Zfp386	T	A	12: 116,023,225 (GRCm39)	S314R	possibly damaging	Het
Zfp467	C	T	6: 48,415,170 (GRCm39)	R494H	probably damaging	Het
Zfp735	A	T	11: 73,601,470 (GRCm39)	D138V	probably benign	Het
Zfyve26	T	C	12: 79,298,925 (GRCm39)	E445G	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
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'- GACTAAGTTATACCCAAGCCAGCGG -3'
(R):5'- TCTCTTACAAGGGGAGAAGGAGCC -3'

Sequencing Primer
(F):5'- CATAAAATGCCGTTTTGGTGC -3'
(R):5'- GCAAGGATGATGTACTCCGA -3'

Posted On

2014-04-13