Mutagenetix > Incidental Mutation

Incidental Mutation 'R1905:Aldh1a1'

214338

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

MMRRC Submission

039924-MU

Accession Numbers

Essential gene?

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

Stock #

R1905 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

20470079-20620829 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 20595362 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 97 (E97G)

Ref Sequence

ENSEMBL: ENSMUSP00000153011 (fasta)

Gene Model

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

AlphaFold

P24549

Predicted Effect

probably damaging
Transcript: ENSMUST00000087638
AA Change: E97G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000084918
Gene: ENSMUSG00000053279
AA Change: E97G

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 damaging
Transcript: ENSMUST00000225313
AA Change: E97G

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000225337
AA Change: E97G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Meta Mutation Damage Score

0.9326

Coding Region Coverage

1x: 97.5%
3x: 97.0%
10x: 95.5%
20x: 93.1%

Validation Efficiency

99% (90/91)

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: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833420G17Rik	G	T	13: 119,606,216 (GRCm39)	V153L	possibly damaging	Het
Adamts17	T	A	7: 66,697,220 (GRCm39)	C631*	probably null	Het
Adamts19	A	G	18: 59,166,017 (GRCm39)	R1070G	possibly damaging	Het
Bola2	T	A	7: 126,295,410 (GRCm39)	V40E	probably damaging	Het
Ccar1	A	G	10: 62,612,437 (GRCm39)	S243P	possibly damaging	Het
Cd80	A	T	16: 38,294,539 (GRCm39)	I141F	probably damaging	Het
Ceacam23	T	A	7: 17,607,477 (GRCm39)		noncoding transcript	Het
Chn2	T	C	6: 54,263,106 (GRCm39)	C92R	probably damaging	Het
Ciao2a	A	G	9: 66,039,929 (GRCm39)	K82R	probably benign	Het
Clk1	A	T	1: 58,461,101 (GRCm39)		probably benign	Het
Clock	T	C	5: 76,414,735 (GRCm39)		probably benign	Het
Cntnap3	A	G	13: 65,051,578 (GRCm39)	V26A	probably benign	Het
Csf3r	A	T	4: 125,936,538 (GRCm39)	K651N	probably benign	Het
Cul4a	T	C	8: 13,183,171 (GRCm39)	M322T	probably benign	Het
Cx3cl1	A	G	8: 95,506,687 (GRCm39)	T231A	probably benign	Het
Cyp2c68	A	T	19: 39,724,026 (GRCm39)	C213S	probably benign	Het
Dhx16	T	G	17: 36,199,247 (GRCm39)	S814A	probably benign	Het
Dnah1	T	C	14: 30,986,587 (GRCm39)	I3659V	probably benign	Het
Dock6	A	T	9: 21,740,870 (GRCm39)	V906D	probably benign	Het
Ep400	G	A	5: 110,818,814 (GRCm39)	T2738I	probably damaging	Het
Erbb4	A	T	1: 68,114,569 (GRCm39)		probably benign	Het
Fam135b	C	T	15: 71,404,836 (GRCm39)	R70H	probably damaging	Het
Fam13a	T	C	6: 58,930,475 (GRCm39)	Q479R	probably damaging	Het
Fcgr4	A	T	1: 170,856,874 (GRCm39)	Q247L	probably damaging	Het
Flnc	T	A	6: 29,459,459 (GRCm39)	C2520S	probably damaging	Het
Foxn1	A	G	11: 78,262,636 (GRCm39)		probably null	Het
Fsip2	C	T	2: 82,813,772 (GRCm39)	P3364S	possibly damaging	Het
Fzd8	C	T	18: 9,213,803 (GRCm39)	T295I	probably damaging	Het
Gm4744	G	A	6: 40,928,736 (GRCm39)		probably benign	Het
Gm4871	G	T	5: 144,966,859 (GRCm39)	A208D	probably damaging	Het
Gm527	A	G	12: 64,967,797 (GRCm39)	N73S	possibly damaging	Het
Gm5414	T	C	15: 101,533,075 (GRCm39)	I451V	probably damaging	Het
Golm1	A	T	13: 59,790,065 (GRCm39)	V245E	probably benign	Het
Grik1	A	T	16: 87,693,754 (GRCm39)	Y879*	probably null	Het
Grn	C	A	11: 102,327,276 (GRCm39)	P241Q	probably damaging	Het
H2-T7	T	C	17: 36,453,833 (GRCm39)		noncoding transcript	Het
Hjurp	T	C	1: 88,194,338 (GRCm39)	E190G	probably benign	Het
Hmcn1	A	C	1: 150,868,606 (GRCm39)	I66S	probably damaging	Het
Hykk	T	A	9: 54,853,667 (GRCm39)	Y330N	probably benign	Het
Khdc1c	A	G	1: 21,439,281 (GRCm39)	N89S	probably benign	Het
Lcor	A	G	19: 41,572,013 (GRCm39)	D256G	possibly damaging	Het
Lrrc72	T	A	12: 36,258,661 (GRCm39)		probably null	Het
Lyst	T	G	13: 13,808,719 (GRCm39)	S130A	probably benign	Het
Mast1	G	A	8: 85,642,895 (GRCm39)	R967C	probably damaging	Het
Mfng	T	C	15: 78,657,286 (GRCm39)	T63A	probably damaging	Het
Mre11a	G	A	9: 14,710,923 (GRCm39)	D206N	probably benign	Het
Myh10	A	G	11: 68,662,694 (GRCm39)		probably benign	Het
Myt1	A	G	2: 181,439,549 (GRCm39)	D357G	probably damaging	Het
Nacad	T	A	11: 6,552,540 (GRCm39)	H217L	probably benign	Het
Ncoa1	A	G	12: 4,345,433 (GRCm39)	V638A	probably damaging	Het
Nlrp3	T	G	11: 59,439,862 (GRCm39)	F480V	probably damaging	Het
Nos1ap	A	G	1: 170,146,127 (GRCm39)	W476R	possibly damaging	Het
Nr1h4	T	A	10: 89,316,421 (GRCm39)	T220S	possibly damaging	Het
Ntf5	G	T	7: 45,065,176 (GRCm39)	V103L	probably damaging	Het
Ntm	C	A	9: 29,090,393 (GRCm39)	D109Y	probably damaging	Het
Or7e178	C	T	9: 20,226,142 (GRCm39)	E17K	probably benign	Het
P2rx7	G	A	5: 122,819,015 (GRCm39)	C479Y	probably damaging	Het
Pappa2	T	A	1: 158,631,073 (GRCm39)		probably null	Het
Pgap1	A	C	1: 54,551,120 (GRCm39)	I520R	probably benign	Het
Pikfyve	G	A	1: 65,231,454 (GRCm39)		probably null	Het
Plekhg3	T	C	12: 76,622,991 (GRCm39)	S744P	probably benign	Het
Pramel6	A	G	2: 87,339,526 (GRCm39)	R97G	probably damaging	Het
Pramel6	G	T	2: 87,339,527 (GRCm39)	R97M	probably damaging	Het
Psme4	T	C	11: 30,760,922 (GRCm39)	V397A	probably damaging	Het
Ptk2b	T	C	14: 66,396,119 (GRCm39)	D783G	probably damaging	Het
Ptma-ps1	T	A	7: 23,763,306 (GRCm39)	L17*	probably null	Het
Ralgapa2	C	A	2: 146,229,621 (GRCm39)	R1053L	probably damaging	Het
Sap130	C	T	18: 31,813,620 (GRCm39)	P559L	possibly damaging	Het
Sap30	T	C	8: 57,940,345 (GRCm39)	S86G	probably damaging	Het
Sdk2	C	T	11: 113,729,472 (GRCm39)		silent	Het
Sema3f	G	T	9: 107,561,575 (GRCm39)	Q500K	probably damaging	Het
Serpinb3d	T	C	1: 107,007,014 (GRCm39)	I231M	possibly damaging	Het
Sf3a1	T	A	11: 4,126,678 (GRCm39)	N563K	probably benign	Het
Sipa1l3	A	G	7: 29,038,592 (GRCm39)	S352P	possibly damaging	Het
Slc6a12	G	T	6: 121,324,402 (GRCm39)	E9*	probably null	Het
Srebf1	T	C	11: 60,095,319 (GRCm39)	D400G	probably damaging	Het
Swsap1	T	C	9: 21,867,988 (GRCm39)	Y87H	probably damaging	Het
Tanc2	G	A	11: 105,813,689 (GRCm39)	G1711D	possibly damaging	Het
Tas2r107	T	C	6: 131,636,951 (GRCm39)	M33V	probably benign	Het
Tdrd9	T	A	12: 112,030,061 (GRCm39)		probably benign	Het
Tdrp	T	C	8: 14,004,079 (GRCm39)	D86G	probably damaging	Het
Tmem92	A	T	11: 94,669,501 (GRCm39)	M106K	probably benign	Het
Tmf1	A	T	6: 97,138,440 (GRCm39)	C764S	possibly damaging	Het
Ttc21a	G	T	9: 119,795,823 (GRCm39)	R1219L	possibly damaging	Het
Ttn	C	T	2: 76,593,792 (GRCm39)	G18870D	probably damaging	Het
Tubgcp6	T	C	15: 88,984,811 (GRCm39)	Y1732C	probably damaging	Het
Vmn1r28	A	G	6: 58,242,912 (GRCm39)	T252A	probably benign	Het
Xirp2	A	G	2: 67,346,700 (GRCm39)	I2980M	probably damaging	Het
Zc2hc1c	A	G	12: 85,337,288 (GRCm39)	D315G	probably benign	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
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
R7078:Aldh1a1	UTSW	19	20,579,434 (GRCm39)	missense	probably benign
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'- TTTCGGGCTAATGGACCTTCTG -3'
(R):5'- TGCTAAGGACTCTGCAAGTTC -3'

Sequencing Primer
(F):5'- GACCTTCTGTTTGTAAGAACTGTC -3'
(R):5'- TCTGCAAGTTCTAGAGAAAACGC -3'

Posted On

2014-07-14