Mutagenetix > Incidental Mutation

Incidental Mutation 'R1550:Aldh7a1'

169882

Institutional Source

Beutler Lab

Gene Symbol

Aldh7a1

Ensembl Gene

ENSMUSG00000053644

Gene Name

aldehyde dehydrogenase family 7, member A1

Synonyms

D18Wsu181e, Atq1

MMRRC Submission

039589-MU

Accession Numbers

Essential gene?

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

Stock #

R1550 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

56657794-56706112 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 56683454 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 117 (I117T)

Ref Sequence

ENSEMBL: ENSMUSP00000127652 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000066208] [ENSMUST00000171844] [ENSMUST00000172734] [ENSMUST00000174518] [ENSMUST00000174704]

AlphaFold

Q9DBF1

Predicted Effect

probably benign
Transcript: ENSMUST00000066208
AA Change: I144T

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000065089
Gene: ENSMUSG00000053644
AA Change: I144T

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

Predicted Effect

unknown
Transcript: ENSMUST00000170309
AA Change: I144T

SMART Domains

Protein: ENSMUSP00000127625
Gene: ENSMUSG00000053644
AA Change: I144T

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000171844
AA Change: I117T

PolyPhen 2 Score 0.494 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000127652
Gene: ENSMUSG00000053644
AA Change: I117T

Domain	Start	End	E-Value	Type
Pfam:Aldedh	47	121	1.8e-11	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000171851

Predicted Effect

probably benign
Transcript: ENSMUST00000172734
AA Change: I144T

PolyPhen 2 Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000134192
Gene: ENSMUSG00000053644
AA Change: I144T

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: I116T

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000133372
Gene: ENSMUSG00000053644
AA Change: I116T

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

Predicted Effect

probably benign
Transcript: ENSMUST00000174704
AA Change: I142T

PolyPhen 2 Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000133970
Gene: ENSMUSG00000053644
AA Change: I142T

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

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.4%
20x: 89.2%

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc6	A	G	7: 45,654,668 (GRCm39)	V551A	probably benign	Het
Acss1	A	T	2: 150,484,715 (GRCm39)	L176Q	probably damaging	Het
Arf5	C	T	6: 28,426,152 (GRCm39)	R180C	probably damaging	Het
Arhgap21	A	T	2: 20,886,576 (GRCm39)	Y39*	probably null	Het
Arrdc1	A	G	2: 24,816,351 (GRCm39)	L206P	probably damaging	Het
Cby3	A	T	11: 50,250,313 (GRCm39)	Y173F	probably damaging	Het
Cdh18	T	A	15: 23,436,634 (GRCm39)	C497S	probably damaging	Het
Cyp11b2	T	C	15: 74,725,442 (GRCm39)	I226V	probably benign	Het
Ddit4l	T	A	3: 137,330,036 (GRCm39)		probably null	Het
Ddx11	C	T	17: 66,445,215 (GRCm39)	T405I	probably benign	Het
Dhx40	A	T	11: 86,667,565 (GRCm39)		probably null	Het
Dlgap2	A	G	8: 14,872,499 (GRCm39)	D659G	probably damaging	Het
Eef2	A	G	10: 81,016,681 (GRCm39)	E586G	probably benign	Het
Fam161a	A	G	11: 22,970,470 (GRCm39)	Q216R	possibly damaging	Het
Fbxw24	G	T	9: 109,436,112 (GRCm39)	R307S	probably benign	Het
Gbp2b	G	T	3: 142,312,591 (GRCm39)	A325S	probably damaging	Het
Gli1	A	T	10: 127,174,385 (GRCm39)	F2Y	probably damaging	Het
Gnl2	T	C	4: 124,938,027 (GRCm39)	V269A	probably damaging	Het
Grin1	A	G	2: 25,195,143 (GRCm39)	V292A	probably benign	Het
Heg1	T	A	16: 33,555,923 (GRCm39)	V1001E	probably damaging	Het
Herc2	T	A	7: 55,785,406 (GRCm39)	I1552N	probably damaging	Het
Htr1a	A	G	13: 105,581,788 (GRCm39)	T343A	probably benign	Het
Itk	G	T	11: 46,280,153 (GRCm39)	R29S	probably damaging	Het
Ivns1abp	G	T	1: 151,237,242 (GRCm39)	G469C	probably damaging	Het
Jph3	A	T	8: 122,511,598 (GRCm39)	N529Y	possibly damaging	Het
Kdm2b	A	G	5: 123,019,120 (GRCm39)	L829P	probably damaging	Het
Kprp	T	A	3: 92,732,033 (GRCm39)	Y339F	probably damaging	Het
Lrp2	A	G	2: 69,333,005 (GRCm39)	V1504A	possibly damaging	Het
Lypd6b	A	G	2: 49,833,615 (GRCm39)	D85G	probably damaging	Het
Mansc4	T	C	6: 146,977,136 (GRCm39)	Y160C	probably damaging	Het
Mgll	C	A	6: 88,790,871 (GRCm39)	H164N	probably benign	Het
Mtmr4	A	T	11: 87,504,342 (GRCm39)	D1097V	probably damaging	Het
Nfasc	T	C	1: 132,536,241 (GRCm39)	K571E	probably damaging	Het
Nfat5	A	T	8: 108,097,205 (GRCm39)	N1527Y	probably damaging	Het
Nlgn1	A	G	3: 25,966,808 (GRCm39)	L215P	probably damaging	Het
Or6b9	T	A	7: 106,555,235 (GRCm39)	I303L	probably benign	Het
Pde4dip	T	C	3: 97,627,020 (GRCm39)	S1173G	probably damaging	Het
Prrt3	A	T	6: 113,472,468 (GRCm39)	V568E	probably damaging	Het
Ptpra	G	A	2: 130,383,313 (GRCm39)	R503Q	possibly damaging	Het
Pttg1ip2	C	A	5: 5,502,019 (GRCm39)	W144C	probably benign	Het
Rnf7l	A	G	10: 63,257,427 (GRCm39)	L31P	probably damaging	Het
Sema5a	G	A	15: 32,618,995 (GRCm39)	A508T	probably benign	Het
Serpinb11	T	C	1: 107,307,418 (GRCm39)	I283T	possibly damaging	Het
Setbp1	A	T	18: 78,901,807 (GRCm39)	L620Q	probably damaging	Het
Sipa1l3	A	T	7: 29,082,628 (GRCm39)	C756S	probably benign	Het
Sirpa	A	T	2: 129,471,961 (GRCm39)	I463F	probably damaging	Het
Slc13a2	G	T	11: 78,293,990 (GRCm39)	N257K	probably damaging	Het
Slc4a5	C	A	6: 83,248,039 (GRCm39)	T530N	probably damaging	Het
Stab2	A	T	10: 86,714,790 (GRCm39)	F125L	probably benign	Het
Tet2	G	T	3: 133,175,280 (GRCm39)	Q1356K	probably benign	Het
Tet3	A	T	6: 83,363,010 (GRCm39)	S856T	probably damaging	Het
Tg	C	T	15: 66,565,279 (GRCm39)	T1207I	possibly damaging	Het
Tkt	A	G	14: 30,287,525 (GRCm39)	Y173C	probably damaging	Het
Tlr6	T	A	5: 65,110,754 (GRCm39)	I718F	probably damaging	Het
Tnfrsf11b	A	G	15: 54,117,454 (GRCm39)	V267A	possibly damaging	Het
Ubqln3	T	A	7: 103,790,753 (GRCm39)	N446Y	probably damaging	Het
Vmn2r118	C	T	17: 55,915,083 (GRCm39)	C521Y	probably damaging	Het
Vps16	A	G	2: 130,282,260 (GRCm39)	D394G	probably benign	Het
Zfp236	A	T	18: 82,692,549 (GRCm39)	M142K	possibly damaging	Het
Zfp780b	T	C	7: 27,664,282 (GRCm39)	D91G	probably benign	Het
Zfp97	T	A	17: 17,365,468 (GRCm39)	Y322*	probably null	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
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'- AGAAGAGCGTTTGAAGCTCTGTGTC -3'
(R):5'- CCTTGTCCCACTAGGTTGAATCGG -3'

Sequencing Primer
(F):5'- TCTGTGTCGCAGCACCAAG -3'
(R):5'- CAAATTCTGCTTGGATTTGTATCTTT -3'

Posted On

2014-04-13