Mutagenetix > Incidental Mutation

Incidental Mutation 'R7078:Aldh1a1'

549397

Institutional Source

Beutler Lab

Gene Symbol

Aldh1a1

Ensembl Gene

ENSMUSG00000053279

Gene Name

aldehyde dehydrogenase family 1, subfamily A1

Synonyms

Ahd-2, Ahd2, ALDH1, E1, Raldh1

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.262) question?

Stock #

R7078 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

20470079-20620829 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 20579434 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 20 (H20L)

Ref Sequence

ENSEMBL: ENSMUSP00000084918 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000087638] [ENSMUST00000225313] [ENSMUST00000225337]

AlphaFold

P24549

Predicted Effect

probably benign
Transcript: ENSMUST00000087638
AA Change: H20L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000084918
Gene: ENSMUSG00000053279
AA Change: H20L

Domain	Start	End	E-Value	Type
Pfam:Aldedh	29	492	5.1e-185	PFAM
Pfam:LuxC	147	368	2.4e-7	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000225313
AA Change: H20L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000225337
AA Change: H20L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

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 belongs to the aldehyde dehydrogenase family. Aldehyde dehydrogenase is the next enzyme after alcohol dehydrogenase in the major pathway of alcohol metabolism. There are two major aldehyde dehydrogenase isozymes in the liver, cytosolic and mitochondrial, which are encoded by distinct genes, and can be distinguished by their electrophoretic mobility, kinetic properties, and subcellular localization. This gene encodes the cytosolic isozyme. Studies in mice show that through its role in retinol metabolism, this gene may also be involved in the regulation of the metabolic responses to high-fat diet. [provided by RefSeq, Mar 2011]
PHENOTYPE: Mice homozygous for a disruption in this gene show a significantly reduced ability to convert retinol to retinoic acid in the liver. Retinal morphology is normal even though the gene is normally highly expressed in the dorsal retina. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	G	A	11: 84,154,138 (GRCm39)	R953Q	possibly damaging	Het
Ankrd52	T	A	10: 128,219,526 (GRCm39)	C487S	probably benign	Het
Ap1s3	T	C	1: 79,602,845 (GRCm39)	E54G	probably benign	Het
Arglu1	A	C	8: 8,717,361 (GRCm39)	M236R	probably benign	Het
Baz1b	T	A	5: 135,246,293 (GRCm39)	F581I	probably benign	Het
Bbox1	T	G	2: 110,122,884 (GRCm39)	D135A	probably benign	Het
Bcl2l14	T	A	6: 134,400,786 (GRCm39)	V69E	probably damaging	Het
Brinp3	C	T	1: 146,390,627 (GRCm39)	Q58*	probably null	Het
Ccnb1ip1	T	A	14: 51,029,724 (GRCm39)	K113*	probably null	Het
Cep128	T	C	12: 91,200,878 (GRCm39)	I830M	probably damaging	Het
Ces2f	C	T	8: 105,681,284 (GRCm39)	T541I	probably damaging	Het
Chsy3	C	A	18: 59,309,149 (GRCm39)	P134Q	possibly damaging	Het
Cobl	T	G	11: 12,328,271 (GRCm39)	T112P	probably damaging	Het
Cplane2	A	T	4: 140,947,159 (GRCm39)	Y180F	probably benign	Het
Dcc	T	A	18: 71,680,469 (GRCm39)	K589I	probably benign	Het
Depdc1b	T	A	13: 108,523,505 (GRCm39)	I460K	possibly damaging	Het
Dlst	T	C	12: 85,157,705 (GRCm39)	F12S	probably benign	Het
Dnah1	G	C	14: 31,019,067 (GRCm39)	F1342L	probably damaging	Het
Dtnb	A	G	12: 3,798,480 (GRCm39)	Q438R	possibly damaging	Het
Dusp4	C	A	8: 35,275,065 (GRCm39)	S61R	probably damaging	Het
E130308A19Rik	A	G	4: 59,737,688 (GRCm39)	Y433C	probably damaging	Het
Ebf2	T	C	14: 67,661,407 (GRCm39)	S512P	probably benign	Het
Elapor2	A	G	5: 9,460,709 (GRCm39)	N210S	probably benign	Het
Eya1	C	T	1: 14,301,636 (GRCm39)		probably null	Het
Fsd1	G	A	17: 56,300,876 (GRCm39)	R245H	probably damaging	Het
Fzr1	T	A	10: 81,204,463 (GRCm39)	D379V	probably damaging	Het
Gk2	T	A	5: 97,604,195 (GRCm39)	E214D	probably benign	Het
Gm10837	C	G	14: 122,728,142 (GRCm39)	A6G	unknown	Het
Gmnc	A	T	16: 26,779,272 (GRCm39)	V251E	probably benign	Het
Golga3	A	G	5: 110,340,953 (GRCm39)	Q549R	probably damaging	Het
Gsdmd	T	G	15: 75,736,204 (GRCm39)	V111G	probably damaging	Het
Gtf3c1	T	C	7: 125,244,914 (GRCm39)	T1707A	possibly damaging	Het
Gucy2c	C	T	6: 136,674,937 (GRCm39)	V1049M	probably benign	Het
Gucy2g	A	G	19: 55,229,583 (GRCm39)	V29A	probably damaging	Het
Hecw1	A	T	13: 14,609,044 (GRCm39)	M1K	probably null	Het
Hmcn1	T	C	1: 150,736,118 (GRCm39)	D117G	probably damaging	Het
Ifnab	T	A	4: 88,609,350 (GRCm39)	T39S	possibly damaging	Het
Lcorl	A	G	5: 45,904,566 (GRCm39)	Y171H	probably damaging	Het
Ly6g6c	C	T	17: 35,288,437 (GRCm39)	P103L	probably damaging	Het
Macf1	T	G	4: 123,325,936 (GRCm39)	E5189A	probably damaging	Het
Mapkap1	A	G	2: 34,453,151 (GRCm39)	E348G	probably damaging	Het
Med25	G	T	7: 44,534,325 (GRCm39)	A280D	probably damaging	Het
Mep1b	C	A	18: 21,233,108 (GRCm39)	A703E	probably benign	Het
Morn5	T	A	2: 35,944,990 (GRCm39)	N71K	probably benign	Het
Mtmr10	T	A	7: 63,970,375 (GRCm39)	Y373N	possibly damaging	Het
Myo1d	C	T	11: 80,565,460 (GRCm39)	E426K	probably damaging	Het
Ncbp1	G	C	4: 46,155,756 (GRCm39)	V302L	probably benign	Het
Notch4	A	G	17: 34,801,520 (GRCm39)	T1123A	possibly damaging	Het
Nudt18	T	A	14: 70,816,452 (GRCm39)	M88K	possibly damaging	Het
Or12k8	A	G	2: 36,975,608 (GRCm39)	S51P	possibly damaging	Het
Or5b100-ps1	A	T	19: 12,994,097 (GRCm39)	D170V	possibly damaging	Het
Or6d12	T	A	6: 116,493,632 (GRCm39)	L298Q	probably damaging	Het
Or8g4	A	T	9: 39,661,787 (GRCm39)	Y35F	possibly damaging	Het
Pdcd6ip	T	C	9: 113,488,953 (GRCm39)	N694S	probably benign	Het
Pecam1	T	A	11: 106,579,773 (GRCm39)	T430S	probably benign	Het
Plaa	T	G	4: 94,462,288 (GRCm39)	T530P	probably benign	Het
Ppfia3	G	T	7: 45,010,019 (GRCm39)	Q95K	probably damaging	Het
Ppp4r2	T	C	6: 100,843,274 (GRCm39)	S331P	probably benign	Het
Prg4	T	C	1: 150,334,014 (GRCm39)	T117A	possibly damaging	Het
Prrc2b	A	T	2: 32,103,531 (GRCm39)	D1003V	probably benign	Het
Ptk2	G	A	15: 73,093,658 (GRCm39)	P854S	possibly damaging	Het
Rasef	T	C	4: 73,698,626 (GRCm39)	I12V	probably benign	Het
Robo2	T	G	16: 74,149,504 (GRCm39)	Y108S	probably damaging	Het
Rp1	T	A	1: 4,277,014 (GRCm39)	E762V	unknown	Het
Rsrc1	T	C	3: 66,901,987 (GRCm39)	S46P	unknown	Het
Rttn	A	T	18: 89,027,546 (GRCm39)	T554S	probably benign	Het
Sall3	C	T	18: 81,017,314 (GRCm39)	V205M	probably damaging	Het
Scn3a	C	A	2: 65,327,944 (GRCm39)	V849L	probably damaging	Het
Sec23a	A	G	12: 59,039,069 (GRCm39)	C277R	probably benign	Het
Sf3b3	C	T	8: 111,539,639 (GRCm39)	A1075T	possibly damaging	Het
Sfxn5	T	C	6: 85,309,366 (GRCm39)	D113G	unknown	Het
Slc22a22	C	T	15: 57,126,876 (GRCm39)	M64I	probably benign	Het
Slc5a11	C	T	7: 122,857,669 (GRCm39)	P253S	probably damaging	Het
Smarcd3	A	G	5: 24,798,067 (GRCm39)	F449S	probably damaging	Het
Sspo	C	T	6: 48,437,313 (GRCm39)	T1357M	probably damaging	Het
Styx	C	T	14: 45,609,873 (GRCm39)	T179I	probably benign	Het
Syt7	A	T	19: 10,412,963 (GRCm39)	T297S	probably benign	Het
Tbx19	T	A	1: 164,988,135 (GRCm39)		probably benign	Het
Tg	T	A	15: 66,545,392 (GRCm39)	V149E	probably damaging	Het
Tgfbr3l	T	A	8: 4,299,238 (GRCm39)	L35Q	probably damaging	Het
Tmem161b	C	A	13: 84,370,537 (GRCm39)		probably benign	Het
Tmem219	T	A	7: 126,490,975 (GRCm39)	T161S	probably damaging	Het
Tox2	T	A	2: 163,162,501 (GRCm39)	L68H		Het
Trim5	T	A	7: 103,927,681 (GRCm39)	D153V	possibly damaging	Het
Ttn	T	C	2: 76,580,651 (GRCm39)	Y23414C	probably damaging	Het
Ttn	A	T	2: 76,582,153 (GRCm39)	N22913K	probably damaging	Het
Ubr2	A	C	17: 47,266,779 (GRCm39)	M1124R	possibly damaging	Het
Vmn2r75	A	G	7: 85,815,568 (GRCm39)	S99P	probably damaging	Het
Wdr83	T	C	8: 85,802,680 (GRCm39)	D219G	probably damaging	Het
Wdr90	C	T	17: 26,068,623 (GRCm39)	V1285M	probably damaging	Het
Zmynd15	A	T	11: 70,351,581 (GRCm39)	L62F	probably damaging	Het

Other mutations in Aldh1a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00916:Aldh1a1	APN	19	20,597,361 (GRCm39)	missense	probably benign	0.13
IGL01769:Aldh1a1	APN	19	20,620,283 (GRCm39)	missense	probably benign	0.29
IGL02745:Aldh1a1	APN	19	20,614,028 (GRCm39)	splice site	probably benign
IGL02989:Aldh1a1	APN	19	20,617,422 (GRCm39)	splice site	probably benign
IGL03154:Aldh1a1	APN	19	20,608,132 (GRCm39)	missense	probably benign	0.21
LCD18:Aldh1a1	UTSW	19	20,604,010 (GRCm39)	intron	probably benign
R0265:Aldh1a1	UTSW	19	20,617,440 (GRCm39)	nonsense	probably null
R0282:Aldh1a1	UTSW	19	20,606,413 (GRCm39)	splice site	probably benign
R0418:Aldh1a1	UTSW	19	20,606,413 (GRCm39)	splice site	probably benign
R0471:Aldh1a1	UTSW	19	20,579,377 (GRCm39)	start codon destroyed	probably null	0.99
R0556:Aldh1a1	UTSW	19	20,611,842 (GRCm39)	missense	probably damaging	1.00
R0755:Aldh1a1	UTSW	19	20,595,358 (GRCm39)	missense	probably benign
R1164:Aldh1a1	UTSW	19	20,595,310 (GRCm39)	missense	probably benign	0.11
R1692:Aldh1a1	UTSW	19	20,608,182 (GRCm39)	missense	probably damaging	1.00
R1905:Aldh1a1	UTSW	19	20,595,362 (GRCm39)	missense	probably damaging	1.00
R2127:Aldh1a1	UTSW	19	20,620,279 (GRCm39)	missense	probably benign	0.00
R2281:Aldh1a1	UTSW	19	20,597,455 (GRCm39)	missense	possibly damaging	0.88
R2475:Aldh1a1	UTSW	19	20,617,442 (GRCm39)	missense	probably benign
R3871:Aldh1a1	UTSW	19	20,602,117 (GRCm39)	nonsense	probably null
R4607:Aldh1a1	UTSW	19	20,599,051 (GRCm39)	missense	probably benign	0.35
R4725:Aldh1a1	UTSW	19	20,617,445 (GRCm39)	missense	probably benign
R4791:Aldh1a1	UTSW	19	20,597,349 (GRCm39)	missense	probably damaging	0.99
R4792:Aldh1a1	UTSW	19	20,597,349 (GRCm39)	missense	probably damaging	0.99
R4844:Aldh1a1	UTSW	19	20,611,764 (GRCm39)	missense	probably benign	0.00
R5639:Aldh1a1	UTSW	19	20,600,786 (GRCm39)	missense	probably damaging	1.00
R5669:Aldh1a1	UTSW	19	20,588,284 (GRCm39)	missense	probably damaging	1.00
R5815:Aldh1a1	UTSW	19	20,608,034 (GRCm39)	missense	probably benign	0.00
R6387:Aldh1a1	UTSW	19	20,595,323 (GRCm39)	missense	probably damaging	0.99
R7282:Aldh1a1	UTSW	19	20,606,434 (GRCm39)	missense	possibly damaging	0.68
R7334:Aldh1a1	UTSW	19	20,599,075 (GRCm39)	missense	probably damaging	1.00
R7578:Aldh1a1	UTSW	19	20,595,366 (GRCm39)	missense	probably damaging	0.98
R7920:Aldh1a1	UTSW	19	20,595,301 (GRCm39)	missense	probably damaging	1.00
R8745:Aldh1a1	UTSW	19	20,611,807 (GRCm39)	missense	probably benign
R8854:Aldh1a1	UTSW	19	20,588,297 (GRCm39)	nonsense	probably null
R9344:Aldh1a1	UTSW	19	20,608,150 (GRCm39)	missense	probably damaging	0.99
R9556:Aldh1a1	UTSW	19	20,600,756 (GRCm39)	missense	possibly damaging	0.69
R9581:Aldh1a1	UTSW	19	20,597,417 (GRCm39)	missense	probably benign	0.43
R9638:Aldh1a1	UTSW	19	20,614,100 (GRCm39)	missense	probably benign	0.33

Predicted Primers

PCR Primer
(F):5'- AGTGAGTGGTGCCCTTCATG -3'
(R):5'- CCCGTTCCTGGACATATGTCAAG -3'

Sequencing Primer
(F):5'- GAGTCTGCCCATCCAATCATATC -3'
(R):5'- GCCACTAACTATGCAAGC -3'

Posted On

2019-05-15