Mutagenetix > Incidental Mutation

Incidental Mutation 'R8801:Aldh16a1'

671497

Institutional Source

Beutler Lab

Gene Symbol

Aldh16a1

Ensembl Gene

ENSMUSG00000007833

Gene Name

aldehyde dehydrogenase 16 family, member A1

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8801 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

45140684-45154584 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 45142014 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 779 (V779A)

Ref Sequence

ENSEMBL: ENSMUSP00000148069 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000107815] [ENSMUST00000209963] [ENSMUST00000211169]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000107815

SMART Domains

Protein: ENSMUSP00000103445
Gene: ENSMUSG00000007833

Domain	Start	End	E-Value	Type
Pfam:Aldedh	48	488	3.8e-87	PFAM
Pfam:Aldedh	536	753	2.7e-30	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000209963
AA Change: V779A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000211169
AA Change: V89A

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

Coding Region Coverage

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

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the aldehyde dehydrogenase superfamily. The family members act on aldehyde substrates and use nicotinamide adenine dinucleotide phosphate (NADP) as a cofactor. This gene is conserved in chimpanzee, dog, cow, mouse, rat, and zebrafish. The protein encoded by this gene interacts with maspardin, a protein that when truncated is responsible for Mast syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2010]

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A730049H05Rik	G	A	6: 92,831,991	V100I	unknown	Het
Acta2	G	T	19: 34,251,807	Q61K	probably damaging	Het
Adamts20	T	G	15: 94,360,609	D357A	probably damaging	Het
Adcy4	A	G	14: 55,771,995	F798S	probably benign	Het
Arid1b	C	A	17: 5,336,828	P1466T	probably benign	Het
B3gnt2	T	C	11: 22,837,002	E62G	probably damaging	Het
Bcan	A	C	3: 87,997,275	V58G	probably damaging	Het
Bhlhe41	T	C	6: 145,864,613	Q66R	probably damaging	Het
Cdh6	G	A	15: 13,044,761	T425I	probably damaging	Het
Csmd2	A	G	4: 128,563,402	Y3554C	probably damaging	Het
Csmd3	T	A	15: 48,457,628	H262L	possibly damaging	Het
Dgcr8	A	G	16: 18,280,636	F334S	probably damaging	Het
Dsg1c	A	G	18: 20,276,965	T497A	probably benign	Het
Dsp	T	C	13: 38,197,526	V2749A	possibly damaging	Het
Esr1	A	G	10: 4,966,270	N486D	unknown	Het
Fam69c	T	C	18: 84,739,492	S234P	probably benign	Het
Fam96b	C	T	8: 104,640,967		probably null	Het
Fbn2	T	C	18: 58,153,949	T213A	probably damaging	Het
Fbxo41	T	A	6: 85,484,681	E15V	probably damaging	Het
Fga	G	A	3: 83,030,881	A188T	possibly damaging	Het
Frk	C	T	10: 34,547,406	S160F	possibly damaging	Het
Gm13128	A	G	4: 144,332,868	Y383C	probably benign	Het
Gm4559	CTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAACAGCAGGGCTTGCAACAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCT	CTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAACAGCAGGGCTTGCAACAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCT	7: 142,273,816		probably benign	Het
Gss	T	C	2: 155,564,766	Y432C	probably damaging	Het
Ifi27l2b	A	T	12: 103,457,039	F5I	unknown	Het
Insm1	T	A	2: 146,223,426	Y387*	probably null	Het
Klf12	T	G	14: 100,022,736	I186L	probably benign	Het
Klrg1	C	T	6: 122,271,383	V186I	probably benign	Het
Loxl3	G	T	6: 83,048,648	W329L	probably damaging	Het
Lyst	T	A	13: 13,661,010	V1759E	probably benign	Het
Mlph	G	A	1: 90,942,887	V507I	probably benign	Het
Mroh8	G	A	2: 157,233,166	T470M	probably damaging	Het
Nampt	T	C	12: 32,838,374	Y175H	possibly damaging	Het
Nedd4l	A	G	18: 65,155,275	E2G	probably damaging	Het
Nrxn1	A	G	17: 90,701,965		probably benign	Het
Olfr1080	A	G	2: 86,553,383	V247A	probably benign	Het
Optc	A	G	1: 133,905,081	S94P	possibly damaging	Het
Oxtr	T	A	6: 112,489,912		probably benign	Het
Phip	T	C	9: 82,876,252	R1463G	probably benign	Het
Psmc3ip	T	C	11: 101,093,791	N76S	probably benign	Het
Reln	T	A	5: 21,950,856	M2213L	possibly damaging	Het
Rock1	T	C	18: 10,070,260	D1271G	probably damaging	Het
Rprd1a	T	G	18: 24,508,223	E112A	probably benign	Het
Sacm1l	A	T	9: 123,582,319	D391V	probably damaging	Het
Serpina3f	A	T	12: 104,219,478	H314L	probably benign	Het
Setd5	T	A	6: 113,150,892	S1269T	possibly damaging	Het
Syne1	T	C	10: 5,358,335	E740G	probably damaging	Het
Tcaf1	T	A	6: 42,686,808	Q46L	probably damaging	Het
Tcam1	G	A	11: 106,282,792	A21T	probably benign	Het
Tchh	CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC	CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC	3: 93,446,708		probably benign	Het
Ttll11	A	T	2: 35,902,973	L286H	probably damaging	Het
Usp1	A	G	4: 98,934,611	T721A	probably benign	Het
Vps41	T	C	13: 18,814,233	S241P	possibly damaging	Het

Other mutations in Aldh16a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01394:Aldh16a1	APN	7	45145513	missense	probably benign	0.00
IGL01449:Aldh16a1	APN	7	45141967	missense	probably damaging	0.99
IGL01599:Aldh16a1	APN	7	45142093	missense	probably damaging	0.99
IGL02118:Aldh16a1	APN	7	45146035	missense	probably damaging	1.00
IGL02120:Aldh16a1	APN	7	45146035	missense	probably damaging	1.00
IGL02123:Aldh16a1	APN	7	45146035	missense	probably damaging	1.00
IGL02125:Aldh16a1	APN	7	45146035	missense	probably damaging	1.00
IGL02126:Aldh16a1	APN	7	45146035	missense	probably damaging	1.00
IGL02794:Aldh16a1	APN	7	45145594	missense	probably damaging	0.98
IGL03348:Aldh16a1	APN	7	45141975	missense	possibly damaging	0.85
G1Funyon:Aldh16a1	UTSW	7	45141982	missense	possibly damaging	0.80
R0242:Aldh16a1	UTSW	7	45144664	missense	probably damaging	1.00
R0242:Aldh16a1	UTSW	7	45144664	missense	probably damaging	1.00
R0305:Aldh16a1	UTSW	7	45147979	missense	probably damaging	1.00
R0532:Aldh16a1	UTSW	7	45142838	missense	probably damaging	1.00
R0550:Aldh16a1	UTSW	7	45146229	splice site	probably null
R0707:Aldh16a1	UTSW	7	45144507	unclassified	probably benign
R0801:Aldh16a1	UTSW	7	45147476	missense	probably benign	0.00
R1224:Aldh16a1	UTSW	7	45142047	splice site	probably null
R1371:Aldh16a1	UTSW	7	45147250	missense	possibly damaging	0.78
R1778:Aldh16a1	UTSW	7	45147308	missense	probably damaging	1.00
R2064:Aldh16a1	UTSW	7	45147161	critical splice donor site	probably null
R4616:Aldh16a1	UTSW	7	45148788	intron	probably benign
R4859:Aldh16a1	UTSW	7	45147307	missense	probably benign	0.10
R4928:Aldh16a1	UTSW	7	45141961	missense	probably damaging	1.00
R5476:Aldh16a1	UTSW	7	45142069	missense	possibly damaging	0.89
R5591:Aldh16a1	UTSW	7	45144652	missense	probably null	0.82
R5647:Aldh16a1	UTSW	7	45154465	missense	probably benign	0.00
R5692:Aldh16a1	UTSW	7	45147799	missense	probably damaging	1.00
R5698:Aldh16a1	UTSW	7	45154407	unclassified	probably benign
R5879:Aldh16a1	UTSW	7	45147506	nonsense	probably null
R5890:Aldh16a1	UTSW	7	45144545	missense	probably benign	0.00
R6321:Aldh16a1	UTSW	7	45149765	missense	probably damaging	1.00
R6338:Aldh16a1	UTSW	7	45141961	missense	probably damaging	1.00
R6373:Aldh16a1	UTSW	7	45146271	missense	probably benign	0.00
R6497:Aldh16a1	UTSW	7	45144937	missense	possibly damaging	0.93
R6566:Aldh16a1	UTSW	7	45143227	missense	probably benign	0.22
R7248:Aldh16a1	UTSW	7	45145594	missense	probably damaging	0.98
R7303:Aldh16a1	UTSW	7	45147904	missense	probably damaging	1.00
R7467:Aldh16a1	UTSW	7	45145907	missense	probably benign	0.03
R7636:Aldh16a1	UTSW	7	45147531	missense	unknown
R7830:Aldh16a1	UTSW	7	45146225	missense	probably damaging	0.98
R8301:Aldh16a1	UTSW	7	45141982	missense	possibly damaging	0.80
R8444:Aldh16a1	UTSW	7	45149691	missense	probably benign	0.00
R9011:Aldh16a1	UTSW	7	45145527	missense	probably damaging	0.98
R9187:Aldh16a1	UTSW	7	45142017	missense	probably damaging	0.99
R9620:Aldh16a1	UTSW	7	45147989	nonsense	probably null
Z1177:Aldh16a1	UTSW	7	45145903	missense	probably null	1.00

Predicted Primers

PCR Primer
(F):5'- GAAGCCACTGTTCCCACATC -3'
(R):5'- AGCCTTGTCAGGTCTCTAGG -3'

Sequencing Primer
(F):5'- AATGCACAGTTAAAGTCACTCAG -3'
(R):5'- CAGGTCTCTAGGGCTTTTACAG -3'

Posted On

2021-04-30