Mutagenetix > Incidental Mutation

Incidental Mutation 'R6497:Aldh16a1'

523061

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 #

R6497 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

45140684-45154584 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 45144937 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Cysteine at position 556 (S556C)

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

possibly damaging
Transcript: ENSMUST00000107815
AA Change: S556C

PolyPhen 2 Score 0.886 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000103445
Gene: ENSMUSG00000007833
AA Change: S556C

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

possibly damaging
Transcript: ENSMUST00000209963
AA Change: S556C

PolyPhen 2 Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)

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

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.5%

Validation Efficiency

98% (42/43)

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc2	T	A	19: 43,805,105	Y399N	probably damaging	Het
Acsm3	G	A	7: 119,780,749		probably null	Het
Armc7	T	C	11: 115,476,251	I74T	probably benign	Het
Atp13a4	T	C	16: 29,479,901	D80G	probably damaging	Het
Bicral	A	T	17: 46,825,573	I237K	probably damaging	Het
Caskin1	T	C	17: 24,504,548	V770A	probably benign	Het
Cd209c	T	C	8: 3,944,122	K113E	possibly damaging	Het
Cdh7	G	A	1: 110,065,798		probably null	Het
Clca3a1	A	T	3: 144,759,259	V71D	possibly damaging	Het
Cntnap5a	T	C	1: 116,577,897	L1228P	probably damaging	Het
Cntrl	A	G	2: 35,135,572	N85D	possibly damaging	Het
Coch	G	A	12: 51,602,721	V272M	probably benign	Het
Col22a1	T	C	15: 71,890,576	E78G	possibly damaging	Het
Cyp2c66	T	A	19: 39,163,377	C179S	probably damaging	Het
Dsg3	A	G	18: 20,537,248	I681V	probably benign	Het
Egflam	A	T	15: 7,251,303		probably null	Het
Fut10	T	A	8: 31,236,250	D344E	probably damaging	Het
Gad2	C	T	2: 22,668,257	P329L	probably damaging	Het
Gm14393	T	C	2: 175,061,634	E160G	possibly damaging	Het
Gprc6a	T	C	10: 51,615,701	I476V	probably benign	Het
Limk2	A	G	11: 3,360,492	F71L	probably benign	Het
Neb	A	T	2: 52,258,289	N2648K	possibly damaging	Het
Olfr561	T	A	7: 102,775,450	F309I	probably benign	Het
Olfr646	T	C	7: 104,107,215		probably benign	Het
Olfr933	G	A	9: 38,976,194	V173I	probably benign	Het
Pcdhgb7	T	A	18: 37,753,853	V692E	probably damaging	Het
Pclo	A	C	5: 14,793,855	K4802Q	unknown	Het
Primpol	A	T	8: 46,586,341		probably null	Het
Prr14	C	T	7: 127,474,578	R205C	probably benign	Het
Rbm12b1	T	C	4: 12,146,431	I801T	probably benign	Het
Ror2	A	T	13: 53,131,919	N86K	probably damaging	Het
Rsf1	G	GACGGCGGCT	7: 97,579,909		probably benign	Het
Sh2d4b	A	G	14: 40,874,182	V81A	probably benign	Het
Skint6	A	G	4: 113,236,398	Y183H	probably damaging	Het
Snapc3	G	T	4: 83,453,126	E388*	probably null	Het
Srrm4	A	T	5: 116,467,491	S236T	unknown	Het
Srrt	G	T	5: 137,297,506	P193H	probably damaging	Het
Sspo	A	T	6: 48,495,208	T810S	possibly damaging	Het
Stk36	A	G	1: 74,603,232	H6R	probably damaging	Het
Tiam2	A	G	17: 3,506,827	T1181A	probably damaging	Het
Tmem184a	A	G	5: 139,813,000	F65L	probably damaging	Het
Vwa8	A	G	14: 79,096,401	I1330M	probably benign	Het
Zfp827	T	A	8: 79,180,128	M923K	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
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
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'- TAGGGTATAGCCTGGCCTTAGC -3'
(R):5'- ATTTGAGTCCAGAAGGTTCCTGG -3'

Sequencing Primer
(F):5'- TAGCTAGTCCCAGATGGCCATC -3'
(R):5'- TCCTGGGAACTGAGAGGTC -3'

Posted On

2018-06-06