Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03348:Aldh16a1'

419583

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 #

IGL03348

Quality Score

Status

Chromosome

Chromosomal Location

45140684-45154584 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 45141975 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 102 (R102Q)

Ref Sequence

ENSEMBL: ENSMUSP00000148006 (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

noncoding transcript
Transcript: ENSMUST00000209581

Predicted Effect

probably benign
Transcript: ENSMUST00000209963
AA Change: R792Q

PolyPhen 2 Score 0.304 (Sensitivity: 0.90; Specificity: 0.89)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210539

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210725

Predicted Effect

possibly damaging
Transcript: ENSMUST00000211169
AA Change: R102Q

PolyPhen 2 Score 0.851 (Sensitivity: 0.83; Specificity: 0.93)

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A330008L17Rik	A	C	8: 99,421,692		noncoding transcript	Het
Adgrv1	T	C	13: 81,499,058	N3121S	possibly damaging	Het
Atp9b	A	T	18: 80,836,422	I346K	possibly damaging	Het
Baiap2l1	T	C	5: 144,278,531	K388R	probably benign	Het
BC024978	T	G	7: 27,197,120		probably null	Het
Cfap65	A	C	1: 74,927,619	I303S	probably damaging	Het
Chd5	C	T	4: 152,376,685	P1244L	probably damaging	Het
Col12a1	A	G	9: 79,693,430	S791P	possibly damaging	Het
Ctsz	T	A	2: 174,428,697	I231F	probably damaging	Het
Dnah8	A	G	17: 30,746,986	T2431A	probably damaging	Het
Eif4b	T	C	15: 102,093,031		probably benign	Het
Epha4	T	C	1: 77,507,172	I67V	possibly damaging	Het
Exoc1	T	A	5: 76,535,593	V55D	probably damaging	Het
Exosc8	A	T	3: 54,732,722	D72E	possibly damaging	Het
F5	C	T	1: 164,194,152	P1399S	possibly damaging	Het
Fmo1	T	A	1: 162,850,151	N132I	possibly damaging	Het
Fndc1	T	A	17: 7,772,647	H739L	unknown	Het
Glb1l2	T	C	9: 26,765,680	D415G	probably benign	Het
Gphn	T	A	12: 78,627,119	H498Q	probably damaging	Het
Lrrc56	A	G	7: 141,207,240	N342S	probably benign	Het
Mbnl3	G	A	X: 51,164,548	T16I	probably damaging	Het
Mrps5	T	G	2: 127,601,385	H294Q	probably damaging	Het
Neu4	A	G	1: 94,024,974	Y355C	possibly damaging	Het
Obscn	A	T	11: 59,050,362	D5105E	probably damaging	Het
Olfr1187-ps1	T	C	2: 88,540,141		noncoding transcript	Het
Olfr1305	C	A	2: 111,873,148	A236S	probably damaging	Het
Olfr498	A	G	7: 108,465,408	D28G	probably benign	Het
Olfr725	A	G	14: 50,034,755	I216T	probably benign	Het
Parp1	T	A	1: 180,577,707		probably benign	Het
Plac1	A	T	X: 53,070,640	N64K	probably damaging	Het
Plcd1	C	A	9: 119,072,490	K655N	possibly damaging	Het
Psme4	T	C	11: 30,876,796	S1772P	probably damaging	Het
Shcbp1	C	T	8: 4,765,089	V130I	probably benign	Het
Slc25a11	T	C	11: 70,645,344		probably benign	Het
Svep1	C	T	4: 58,113,635	G1004E	probably damaging	Het
Tars2	T	C	3: 95,740,268		probably null	Het
Tbc1d12	C	T	19: 38,916,620	T593I	probably damaging	Het
Tcerg1l	T	A	7: 138,213,371	E526D	probably damaging	Het
Tmcc3	G	A	10: 94,579,080	V215M	possibly damaging	Het
Trappc8	T	C	18: 20,852,781	D601G	probably damaging	Het
Trp53bp2	T	A	1: 182,453,748	N971K	probably damaging	Het
Ube2g2	A	T	10: 77,630,877	E36D	probably benign	Het
Uggt2	T	A	14: 119,070,888	R360S	probably benign	Het
Utp20	A	G	10: 88,758,317	V2182A	probably benign	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
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

2016-08-02