Mutagenetix > Incidental Mutation

Incidental Mutation 'R5692:Aldh16a1'

443733

Institutional Source

Beutler Lab

Gene Symbol

Aldh16a1

Ensembl Gene

ENSMUSG00000007833

Gene Name

aldehyde dehydrogenase 16 family, member A1

Synonyms

MMRRC Submission

043179-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5692 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

45140684-45154584 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 45147799 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 168 (V168A)

Ref Sequence

ENSEMBL: ENSMUSP00000148069 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000107815] [ENSMUST00000209957] [ENSMUST00000209963] [ENSMUST00000210125] [ENSMUST00000211362] [ENSMUST00000211169]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000007977
AA Change: V168A

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

SMART Domains

Protein: ENSMUSP00000007977
Gene: ENSMUSG00000007833
AA Change: V168A

Domain	Start	End	E-Value	Type
Pfam:Aldedh	48	488	1.1e-84	PFAM
Pfam:Aldedh	537	774	4.7e-31	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000107815
AA Change: V168A

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

SMART Domains

Protein: ENSMUSP00000103445
Gene: ENSMUSG00000007833
AA Change: V168A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123297
AA Change: S18P

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126618
AA Change: V304A

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150880
AA Change: S137P

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209581

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209755

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209889

Predicted Effect

probably benign
Transcript: ENSMUST00000209957

Predicted Effect

probably damaging
Transcript: ENSMUST00000209963
AA Change: V168A

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

Predicted Effect

silent
Transcript: ENSMUST00000210125

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210352

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210539

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210725

Predicted Effect

probably benign
Transcript: ENSMUST00000211362

Predicted Effect

probably benign
Transcript: ENSMUST00000211169

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.8%

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700128F08Rik	G	A	9: 8,221,990		noncoding transcript	Het
Adcy10	A	G	1: 165,515,306	N247S	probably benign	Het
Ago3	T	C	4: 126,355,069		probably null	Het
Aqp7	G	A	4: 41,035,510	T115I	probably benign	Het
Arhgap26	T	A	18: 39,121,892	V274E	probably damaging	Het
Clec4d	T	C	6: 123,268,145		probably null	Het
Dennd4b	T	C	3: 90,277,783	Y1166H	probably damaging	Het
Egln3	T	C	12: 54,180,661		probably null	Het
Fetub	C	T	16: 22,932,331	R143C	probably damaging	Het
Fhad1	T	A	4: 141,963,457	M434L	probably benign	Het
Gfm1	T	G	3: 67,435,622	M163R	probably damaging	Het
Isg15	A	T	4: 156,199,822	L83Q	probably damaging	Het
Ly9	GCCTTTGGGGGACAATTCC	GCC	1: 171,605,187		probably null	Het
Med1	G	T	11: 98,156,380		probably benign	Het
Mrc2	T	A	11: 105,336,642	V567D	probably damaging	Het
Nnmt	G	T	9: 48,603,480	T79K	probably benign	Het
Opn1sw	G	A	6: 29,379,841		probably benign	Het
Optc	G	T	1: 133,900,976		probably benign	Het
Pcdh17	C	T	14: 84,448,540	P816S	probably benign	Het
Pcdhb15	T	C	18: 37,474,449	S245P	probably benign	Het
Pcdhb18	G	A	18: 37,490,484	R289Q	probably benign	Het
Sacs	T	C	14: 61,207,839	F2445L	probably benign	Het
Sel1l	T	C	12: 91,811,878	N721S	probably benign	Het
Slc35e2	C	T	4: 155,610,026	P10L	probably benign	Het
Slc7a11	C	G	3: 50,372,331	V494L	probably benign	Het
Sulf2	C	A	2: 166,081,506	A598S	probably benign	Het
Tph2	A	T	10: 115,184,827	D21E	probably damaging	Het
Trf	T	C	9: 103,226,125	Y110C	possibly damaging	Het
Ttn	C	T	2: 76,797,858	E14653K	possibly damaging	Het
Vmn2r18	A	G	5: 151,562,259	I590T	possibly damaging	Het
Zfp607b	G	T	7: 27,703,464	K448N	probably benign	Het
Zfp689	T	C	7: 127,448,899		probably benign	Het
Zfp709	C	T	8: 71,890,155	P476L	probably 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
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
R8801:Aldh16a1	UTSW	7	45142014	missense	probably benign
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'- ATCCCTGGGAAAGAGCCAAG -3'
(R):5'- TTCGAGATGGAGATGTGCCAC -3'

Sequencing Primer
(F):5'- AAGCTCTCCTGCCAGCTGAG -3'
(R):5'- ACTGGCCCAGCAACTGC -3'

Posted On

2016-11-09