Mutagenetix > Incidental Mutation

Incidental Mutation 'R5641:Aldh1a7'

440700

Institutional Source

Beutler Lab

Gene Symbol

Aldh1a7

Ensembl Gene

ENSMUSG00000024747

Gene Name

aldehyde dehydrogenase family 1, subfamily A7

Synonyms

Aldh-pb, Ahd2-like

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.231) question?

Stock #

R5641 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

20670318-20704920 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 20693293 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 209 (I209V)

Ref Sequence

ENSEMBL: ENSMUSP00000025656 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025656]

AlphaFold

O35945

Predicted Effect

probably benign
Transcript: ENSMUST00000025656
AA Change: I209V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000025656
Gene: ENSMUSG00000024747
AA Change: I209V

Domain	Start	End	E-Value	Type
Pfam:Aldedh	29	492	2.5e-185	PFAM

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc1	A	T	16: 14,289,877 (GRCm39)	M1398L	probably benign	Het
Acad12	A	G	5: 121,742,084 (GRCm39)		probably benign	Het
Alkal2	G	A	12: 30,937,264 (GRCm39)		probably null	Het
Aqr	A	G	2: 113,979,515 (GRCm39)	F307L	probably damaging	Het
Atp2a2	A	G	5: 122,595,639 (GRCm39)	L932P	probably damaging	Het
Atxn7	T	C	14: 14,013,638 (GRCm38)	M113T	probably damaging	Het
Blzf1	T	A	1: 164,134,038 (GRCm39)	M4L	probably benign	Het
Brca2	C	A	5: 150,480,364 (GRCm39)	S2711R	probably damaging	Het
Bzw1	A	T	1: 58,436,883 (GRCm39)	Q70L	probably damaging	Het
Cd34	T	A	1: 194,630,276 (GRCm39)	I70N	probably benign	Het
Chac1	A	G	2: 119,181,999 (GRCm39)	Y39C	probably damaging	Het
Col6a2	G	C	10: 76,449,112 (GRCm39)	P275A	probably damaging	Het
Crb1	T	A	1: 139,176,627 (GRCm39)	N452I	probably damaging	Het
Ctrc	T	C	4: 141,566,094 (GRCm39)	N188S	probably damaging	Het
Dnah7b	G	A	1: 46,307,924 (GRCm39)		probably null	Het
Etl4	GGGGAAGAACCGG	GGG	2: 20,811,273 (GRCm39)		probably null	Het
Exoc6	T	A	19: 37,576,081 (GRCm39)		probably null	Het
Gm5616	T	A	9: 48,361,716 (GRCm39)		noncoding transcript	Het
Gm7535	T	C	17: 18,131,788 (GRCm39)		probably benign	Het
Hnrnpr	T	C	4: 136,059,798 (GRCm39)	S200P	probably damaging	Het
Ighg2b	T	C	12: 113,270,767 (GRCm39)	N121S	unknown	Het
Il21	T	A	3: 37,281,917 (GRCm39)	K76*	probably null	Het
Jup	T	A	11: 100,267,632 (GRCm39)	T564S	possibly damaging	Het
Kcns2	G	C	15: 34,839,199 (GRCm39)	R187S	possibly damaging	Het
Klhl18	G	A	9: 110,275,896 (GRCm39)	T84M	probably damaging	Het
Mtor	T	A	4: 148,630,882 (GRCm39)	L2280M	probably damaging	Het
Ncoa6	A	G	2: 155,263,756 (GRCm39)	I226T	probably benign	Het
Nipbl	A	T	15: 8,396,196 (GRCm39)	Y126N	possibly damaging	Het
Nlrp4a	T	A	7: 26,149,589 (GRCm39)	C399S	probably damaging	Het
Nphp3	A	G	9: 103,913,352 (GRCm39)	K54E	probably damaging	Het
Nsun2	T	A	13: 69,771,368 (GRCm39)	V326E	probably benign	Het
Oosp3	T	C	19: 11,674,537 (GRCm39)		probably null	Het
Or4k15b	A	G	14: 50,272,746 (GRCm39)	I38T	probably benign	Het
Pcdhga9	T	C	18: 37,871,301 (GRCm39)	S377P	probably damaging	Het
Pdlim3	A	G	8: 46,368,300 (GRCm39)		probably null	Het
Pla2r1	A	T	2: 60,345,328 (GRCm39)	W343R	probably damaging	Het
Prox2	A	G	12: 85,134,721 (GRCm39)	V520A	probably benign	Het
Rfx3	T	C	19: 27,771,008 (GRCm39)		probably null	Het
Rif1	A	C	2: 52,011,170 (GRCm39)	R2412S	possibly damaging	Het
Rreb1	T	C	13: 38,131,397 (GRCm39)	L1517P	probably benign	Het
Rxfp1	T	C	3: 79,594,199 (GRCm39)	N65S	probably damaging	Het
Sbf2	T	C	7: 110,038,108 (GRCm39)	E399G	probably damaging	Het
Slc36a4	A	C	9: 15,640,098 (GRCm39)		probably null	Het
Slco1a1	A	T	6: 141,885,695 (GRCm39)	M110K	probably damaging	Het
Stat5a	T	A	11: 100,767,634 (GRCm39)	C401S	probably benign	Het
Ticam1	TCACACA	TCACA	17: 56,577,629 (GRCm39)		probably null	Het
Tmem150c	T	C	5: 100,231,523 (GRCm39)	T151A	probably damaging	Het
Ube4a	A	T	9: 44,862,179 (GRCm39)	M173K	probably damaging	Het
Vmn1r188	A	T	13: 22,272,342 (GRCm39)	S99C	probably damaging	Het
Vmn2r70	C	T	7: 85,208,572 (GRCm39)	C635Y	probably damaging	Het
Zfp644	T	C	5: 106,767,461 (GRCm39)	K24E	probably damaging	Het

Other mutations in Aldh1a7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00693:Aldh1a7	APN	19	20,677,410 (GRCm39)	missense	probably damaging	1.00
IGL01132:Aldh1a7	APN	19	20,704,404 (GRCm39)	missense	possibly damaging	0.76
IGL01630:Aldh1a7	APN	19	20,673,693 (GRCm39)	splice site	probably benign
IGL01901:Aldh1a7	APN	19	20,695,103 (GRCm39)	missense	probably damaging	0.99
IGL02324:Aldh1a7	APN	19	20,704,368 (GRCm39)	missense	probably damaging	1.00
IGL02822:Aldh1a7	APN	19	20,679,630 (GRCm39)	missense	possibly damaging	0.85
IGL03162:Aldh1a7	APN	19	20,685,645 (GRCm39)	missense	probably benign	0.21
PIT4514001:Aldh1a7	UTSW	19	20,679,604 (GRCm39)	missense	probably benign	0.07
R0125:Aldh1a7	UTSW	19	20,704,430 (GRCm39)	splice site	probably benign
R0268:Aldh1a7	UTSW	19	20,686,866 (GRCm39)	critical splice acceptor site	probably null
R0833:Aldh1a7	UTSW	19	20,679,607 (GRCm39)	missense	probably damaging	1.00
R1665:Aldh1a7	UTSW	19	20,704,825 (GRCm39)	missense	probably benign
R1709:Aldh1a7	UTSW	19	20,693,316 (GRCm39)	missense	probably damaging	1.00
R1772:Aldh1a7	UTSW	19	20,693,383 (GRCm39)	missense	probably damaging	1.00
R1917:Aldh1a7	UTSW	19	20,704,819 (GRCm39)	missense	probably benign
R2570:Aldh1a7	UTSW	19	20,677,320 (GRCm39)	missense	probably benign	0.35
R3778:Aldh1a7	UTSW	19	20,696,675 (GRCm39)	missense	possibly damaging	0.70
R3832:Aldh1a7	UTSW	19	20,685,602 (GRCm39)	missense	probably damaging	1.00
R3894:Aldh1a7	UTSW	19	20,673,762 (GRCm39)	nonsense	probably null
R4601:Aldh1a7	UTSW	19	20,693,343 (GRCm39)	missense	probably damaging	0.98
R4948:Aldh1a7	UTSW	19	20,704,374 (GRCm39)	missense	possibly damaging	0.77
R5562:Aldh1a7	UTSW	19	20,679,628 (GRCm39)	nonsense	probably null
R5606:Aldh1a7	UTSW	19	20,699,731 (GRCm39)	missense	probably damaging	1.00
R5808:Aldh1a7	UTSW	19	20,685,561 (GRCm39)	missense	possibly damaging	0.79
R6646:Aldh1a7	UTSW	19	20,677,275 (GRCm39)	missense	possibly damaging	0.94
R6759:Aldh1a7	UTSW	19	20,677,320 (GRCm39)	missense	possibly damaging	0.89
R7034:Aldh1a7	UTSW	19	20,685,542 (GRCm39)	missense	possibly damaging	0.95
R7036:Aldh1a7	UTSW	19	20,685,542 (GRCm39)	missense	possibly damaging	0.95
R7150:Aldh1a7	UTSW	19	20,693,382 (GRCm39)	missense	probably damaging	1.00
R7255:Aldh1a7	UTSW	19	20,692,092 (GRCm39)	missense	probably damaging	1.00
R7875:Aldh1a7	UTSW	19	20,693,343 (GRCm39)	missense	possibly damaging	0.90
R7964:Aldh1a7	UTSW	19	20,693,406 (GRCm39)	missense	probably benign	0.05
R7964:Aldh1a7	UTSW	19	20,677,371 (GRCm39)	missense	probably damaging	0.99
R7984:Aldh1a7	UTSW	19	20,686,764 (GRCm39)	missense	probably damaging	0.98
R8547:Aldh1a7	UTSW	19	20,692,067 (GRCm39)	missense	possibly damaging	0.93
X0022:Aldh1a7	UTSW	19	20,696,679 (GRCm39)	missense	probably benign	0.01

Predicted Primers

Posted On

2016-11-08