Mutagenetix > Incidental Mutation

Incidental Mutation 'R6505:Aldh7a1'

523821

Institutional Source

Beutler Lab

Gene Symbol

Aldh7a1

Ensembl Gene

ENSMUSG00000053644

Gene Name

aldehyde dehydrogenase family 7, member A1

Synonyms

D18Wsu181e, Atq1

MMRRC Submission

044637-MU

Accession Numbers

Essential gene?

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

Stock #

R6505 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

56657794-56706112 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 56660068 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 498 (Y498C)

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: Y526C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000065089
Gene: ENSMUSG00000053644
AA Change: Y526C

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000172734
AA Change: Y462C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000134192
Gene: ENSMUSG00000053644
AA Change: Y462C

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172902

Predicted Effect

probably damaging
Transcript: ENSMUST00000174518
AA Change: Y498C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000133372
Gene: ENSMUSG00000053644
AA Change: Y498C

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

0.6063

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.2%

Validation Efficiency

100% (84/84)

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	A	T	17: 9,220,772 (GRCm39)	I424L	probably benign	Het
2610028H24Rik	C	T	10: 76,285,115 (GRCm39)	A8V	probably benign	Het
Ago1	G	A	4: 126,357,628 (GRCm39)	P16S	probably benign	Het
Ak5	C	T	3: 152,187,306 (GRCm39)	E394K	probably benign	Het
Alox12	T	A	11: 70,141,030 (GRCm39)	D335V	probably damaging	Het
Alx4	A	T	2: 93,498,904 (GRCm39)	Y212F	probably damaging	Het
Asb16	A	G	11: 102,167,303 (GRCm39)	E223G	probably damaging	Het
Atg9b	C	T	5: 24,595,575 (GRCm39)	V235M	probably damaging	Het
BB014433	A	G	8: 15,092,304 (GRCm39)	V183A	probably benign	Het
Brca1	T	A	11: 101,414,367 (GRCm39)	M1256L	probably benign	Het
Bst1	A	G	5: 43,977,932 (GRCm39)	I94V	probably benign	Het
C3ar1	A	G	6: 122,827,599 (GRCm39)	L206P	probably benign	Het
Cabs1	T	A	5: 88,128,522 (GRCm39)	M391K	possibly damaging	Het
Cars1	C	T	7: 143,118,744 (GRCm39)	R599Q	probably damaging	Het
Ccdc190	T	A	1: 169,760,592 (GRCm39)	Y73*	probably null	Het
Cd177	A	C	7: 24,443,671 (GRCm39)	L809W	probably benign	Het
Cemip	C	A	7: 83,600,805 (GRCm39)	G939*	probably null	Het
Clca3b	T	A	3: 144,531,020 (GRCm39)	I777F	probably benign	Het
Cma2	T	C	14: 56,211,236 (GRCm39)	I176T	probably damaging	Het
Col12a1	T	A	9: 79,554,887 (GRCm39)	T2064S	probably damaging	Het
Csf1r	A	G	18: 61,262,805 (GRCm39)	N860S	probably damaging	Het
Dab1	T	A	4: 104,369,461 (GRCm39)	C3S	probably benign	Het
Dennd4b	A	G	3: 90,174,918 (GRCm39)	E50G	probably damaging	Het
Dis3l	A	T	9: 64,214,795 (GRCm39)	S925T	probably benign	Het
Disp1	T	C	1: 182,868,076 (GRCm39)	N1448S	probably benign	Het
Dpp10	T	C	1: 123,264,580 (GRCm39)	I747M	probably damaging	Het
Enpp5	G	A	17: 44,396,155 (GRCm39)	G356S	probably damaging	Het
Ephx4	A	T	5: 107,551,522 (GRCm39)	K36*	probably null	Het
Fam135a	C	T	1: 24,053,953 (GRCm39)	V1195I	probably damaging	Het
Fap	A	T	2: 62,376,947 (GRCm39)	Y234*	probably null	Het
Fem1c	A	T	18: 46,638,942 (GRCm39)	N353K	possibly damaging	Het
Furin	C	A	7: 80,043,365 (GRCm39)	R282L	probably damaging	Het
Gm10549	C	A	18: 33,597,358 (GRCm39)		probably benign	Het
Gm5930	A	G	14: 44,568,828 (GRCm39)	*265Q	probably null	Het
Hcrtr1	T	A	4: 130,031,379 (GRCm39)	T15S	probably benign	Het
Ifnar1	C	T	16: 91,296,425 (GRCm39)	Q309*	probably null	Het
Il18r1	A	T	1: 40,528,867 (GRCm39)	I304L	probably benign	Het
Ino80	A	T	2: 119,281,922 (GRCm39)	Y185N	probably damaging	Het
Itgb2	G	A	10: 77,395,507 (GRCm39)	C536Y	probably damaging	Het
Ivns1abp	T	C	1: 151,236,744 (GRCm39)	M435T	probably benign	Het
Kcnh4	T	C	11: 100,647,911 (GRCm39)	N151D	probably benign	Het
Lama3	T	C	18: 12,628,405 (GRCm39)	M1499T	probably benign	Het
Lamb1	A	T	12: 31,373,461 (GRCm39)	T1397S	possibly damaging	Het
Leng1	G	A	7: 3,664,211 (GRCm39)	R239*	probably null	Het
Map2k4	A	T	11: 65,584,355 (GRCm39)	N309K	possibly damaging	Het
Mcm3	A	G	1: 20,873,768 (GRCm39)	F784S	probably damaging	Het
Mrgpra9	T	A	7: 46,884,884 (GRCm39)	N260I	probably benign	Het
Mrnip	C	A	11: 50,090,679 (GRCm39)	T281N	possibly damaging	Het
Myo9b	A	G	8: 71,808,501 (GRCm39)	T1715A	possibly damaging	Het
Nectin3	A	G	16: 46,269,184 (GRCm39)	I406T	possibly damaging	Het
Neto1	A	G	18: 86,516,699 (GRCm39)	T339A	possibly damaging	Het
Ntn1	T	C	11: 68,104,025 (GRCm39)	D541G	probably damaging	Het
Nuak2	C	A	1: 132,244,132 (GRCm39)	H55Q	probably damaging	Het
Nufip2	A	G	11: 77,582,439 (GRCm39)	T118A	probably benign	Het
Or11i1	T	G	3: 106,729,638 (GRCm39)	N79T	possibly damaging	Het
Or12e7	T	A	2: 87,288,271 (GRCm39)	V254E	probably damaging	Het
Or51af1	T	A	7: 103,141,858 (GRCm39)	T76S	probably damaging	Het
Or52e19	C	A	7: 102,959,000 (GRCm39)	A24D	probably benign	Het
Or5d16	A	T	2: 87,773,518 (GRCm39)	Y151*	probably null	Het
Or5p59	T	C	7: 107,702,774 (GRCm39)	V86A	probably benign	Het
Or6d13	C	T	6: 116,517,561 (GRCm39)	T49M	probably benign	Het
Or7a40	A	T	16: 16,491,784 (GRCm39)	D20E	probably benign	Het
Or7g29	T	C	9: 19,286,237 (GRCm39)	*313W	probably null	Het
Pcdhb5	T	A	18: 37,453,933 (GRCm39)	H104Q	probably benign	Het
Phf11a	T	C	14: 59,514,986 (GRCm39)	R232G	probably damaging	Het
Pik3r5	C	T	11: 68,383,615 (GRCm39)	T478I	probably benign	Het
Prkacb	T	A	3: 146,438,401 (GRCm39)	E380V	probably damaging	Het
Prl7c1	G	T	13: 27,957,776 (GRCm39)	D221E	probably damaging	Het
Prr11	T	A	11: 86,996,950 (GRCm39)	K5*	probably null	Het
Prrc2b	G	A	2: 32,112,332 (GRCm39)	G1932D	probably damaging	Het
Rexo1	A	T	10: 80,378,845 (GRCm39)	Y1064N	possibly damaging	Het
Rnf182	C	T	13: 43,822,147 (GRCm39)	Q233*	probably null	Het
Rsf1	G	A	7: 97,229,117 (GRCm39)		probably benign	Het
Sash1	C	G	10: 8,605,291 (GRCm39)	G1033A	probably benign	Het
Sncaip	C	A	18: 53,039,609 (GRCm39)	S189*	probably null	Het
Sorl1	T	C	9: 41,982,530 (GRCm39)	Y350C	probably damaging	Het
Speg	T	C	1: 75,383,328 (GRCm39)	V1141A	possibly damaging	Het
Speg	C	A	1: 75,406,167 (GRCm39)	D3091E	possibly damaging	Het
Sucnr1	A	T	3: 59,994,144 (GRCm39)	D224V	probably benign	Het
Tg	G	A	15: 66,631,407 (GRCm39)	A559T	probably damaging	Het
Tmem132d	A	G	5: 127,861,502 (GRCm39)	I873T	probably benign	Het
Tmem229a	C	T	6: 24,954,920 (GRCm39)	C278Y	probably damaging	Het
Togaram1	T	C	12: 65,013,364 (GRCm39)	I205T	possibly damaging	Het
Usp19	T	A	9: 108,374,082 (GRCm39)	L713Q	probably damaging	Het
Vsig10	A	G	5: 117,489,824 (GRCm39)	D530G	possibly damaging	Het
Zfp106	A	G	2: 120,364,983 (GRCm39)	S475P	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
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
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'- GGTCTGGGAATCACTGGAGATTAG -3'
(R):5'- TTCCGTTGTAAGGAATCGCACTG -3'

Sequencing Primer
(F):5'- CACTGGAGATTAGACACTGCTGTC -3'
(R):5'- GTTGGCTTTACCGACCTATAA -3'

Posted On

2018-06-22