Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02794:Aldh16a1'

359887

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Aldh16a1

Ensembl Gene

ENSMUSG00000007833

Gene Name

aldehyde dehydrogenase 16 family, member A1

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02794

Quality Score

Status

Chromosome

Chromosomal Location

45140684-45154584 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 45145594 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 484 (Y484H)

Ref Sequence

ENSEMBL: ENSMUSP00000148069 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000107815
AA Change: Y484H

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000103445
Gene: ENSMUSG00000007833
AA Change: Y484H

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: 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: Y484H

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

Predicted Effect

probably benign
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: ENSMUST00000211169

Predicted Effect

probably benign
Transcript: ENSMUST00000211362

Coding Region Coverage

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	T	A	17: 24,402,411	C1082S	probably benign	Het
Akt2	G	T	7: 27,629,381	R176L	probably benign	Het
Apeh	A	G	9: 108,092,010	S280P	possibly damaging	Het
Atp1a4	T	C	1: 172,244,086	M481V	probably benign	Het
Atraid	G	A	5: 31,052,870	S135N	probably damaging	Het
Camta2	C	T	11: 70,675,658	G677D	possibly damaging	Het
Ccdc18	A	G	5: 108,171,748	N545S	probably benign	Het
Cic	A	G	7: 25,285,644	D1105G	probably damaging	Het
Crisp1	A	T	17: 40,313,066	M4K	unknown	Het
Crnkl1	C	T	2: 145,930,612	E182K	possibly damaging	Het
Dnmt1	A	T	9: 20,936,551	C114S	probably benign	Het
Dsc2	A	T	18: 20,041,731	Y496N	probably damaging	Het
Dst	T	C	1: 34,270,829	V1528A	probably damaging	Het
Fbxl8	C	T	8: 105,268,120	T88M	probably benign	Het
Fbxo10	T	C	4: 45,041,928	N767S	probably benign	Het
Gm1527	A	G	3: 28,895,680	T30A	unknown	Het
Gorasp2	C	A	2: 70,679,494	Y166*	probably null	Het
Gucy2c	T	A	6: 136,713,148	Q744L	probably damaging	Het
Heg1	A	T	16: 33,726,622	N593I	probably damaging	Het
Ice1	T	A	13: 70,609,159	S236C	possibly damaging	Het
Il12b	T	C	11: 44,407,981	Y88H	probably damaging	Het
Izumo3	C	T	4: 92,146,963	V6I	probably benign	Het
Kcna6	A	G	6: 126,738,552	V458A	probably damaging	Het
Kif13b	G	A	14: 64,803,440	R1659Q	probably benign	Het
Klk1b1	A	G	7: 43,970,365	D116G	possibly damaging	Het
Lama2	T	C	10: 27,041,231	T2233A	possibly damaging	Het
Lin9	A	T	1: 180,651,879	K59N	probably damaging	Het
Ltbp2	T	C	12: 84,791,935	E1083G	probably damaging	Het
Mfsd11	T	A	11: 116,859,351	S105T	probably damaging	Het
Mga	T	A	2: 119,946,289	I1768N	possibly damaging	Het
Mical3	C	A	6: 121,007,309	G202V	probably damaging	Het
Mylk	A	T	16: 34,986,541	I1719F	probably benign	Het
Nusap1	T	A	2: 119,630,386	F120Y	possibly damaging	Het
Olfr1079	T	C	2: 86,538,148	T256A	possibly damaging	Het
Olfr671	T	A	7: 104,975,389	M203L	probably benign	Het
Olfr923	T	A	9: 38,828,215	C175S	probably damaging	Het
Pidd1	T	C	7: 141,443,108	Y57C	probably benign	Het
Pik3cd	T	A	4: 149,654,571	M671L	probably benign	Het
Ppp5c	A	G	7: 17,006,960	V361A	probably benign	Het
Prune2	T	C	19: 17,119,361	V743A	probably benign	Het
Siglec1	C	A	2: 131,075,969	S996I	possibly damaging	Het
Slc12a7	A	G	13: 73,809,087	R948G	possibly damaging	Het
Slc40a1	A	T	1: 45,909,508	Y537*	probably null	Het
Smarca4	T	A	9: 21,673,342		probably benign	Het
Smg6	C	T	11: 75,053,934	P1109S	probably damaging	Het
Sorl1	T	A	9: 42,063,774	N513Y	probably damaging	Het
Trim58	C	T	11: 58,640,466		probably benign	Het
Trim72	T	C	7: 128,004,532	C17R	probably damaging	Het
Ttc3	T	C	16: 94,467,926	C1956R	probably damaging	Het
Vmn1r211	C	A	13: 22,852,206	S97I	probably damaging	Het
Vmn1r211	T	A	13: 22,852,207	S97C	probably damaging	Het
Vmn1r211	G	T	13: 22,852,209	T96N	possibly damaging	Het
Vmn2r66	A	T	7: 84,995,415	S596T	probably benign	Het
Zfp609	A	G	9: 65,704,320	S454P	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
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
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

Posted On

2015-12-18