Mutagenetix > Incidental Mutation

Incidental Mutation 'R5698:Aldh16a1'

450790

Institutional Source

Beutler Lab

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 #

R5698 (G1)

Quality Score

212

Status

Not validated

Chromosome

Chromosomal Location

45140684-45154584 bp(-) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

G to A at 45154407 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000147474 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000085375] [ENSMUST00000107811] [ENSMUST00000107815] [ENSMUST00000209847] [ENSMUST00000209954] [ENSMUST00000209957] [ENSMUST00000209963] [ENSMUST00000210125] [ENSMUST00000211709] [ENSMUST00000211362] [ENSMUST00000211414] [ENSMUST00000210139]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000085375

SMART Domains

Protein: ENSMUSP00000082490
Gene: ENSMUSG00000003423

Domain	Start	End	E-Value	Type
Pfam:PIH1	23	207	1.8e-50	PFAM
Pfam:PIH1	211	285	2.3e-17	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000107811

SMART Domains

Protein: ENSMUSP00000103441
Gene: ENSMUSG00000003423

Domain	Start	End	E-Value	Type
Pfam:PIH1	23	207	1.8e-50	PFAM
Pfam:PIH1	211	285	2.3e-17	PFAM

Predicted Effect

silent
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: ENSMUST00000124578
AA Change: A14V

Predicted Effect

unknown
Transcript: ENSMUST00000125953
AA Change: G30D

SMART Domains

Protein: ENSMUSP00000118009
Gene: ENSMUSG00000003423
AA Change: G30D

Domain	Start	End	E-Value	Type
Pfam:PIH1	87	175	1.8e-25	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209400

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209581

Predicted Effect

probably benign
Transcript: ENSMUST00000209847

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209889

Predicted Effect

probably benign
Transcript: ENSMUST00000209954

Predicted Effect

silent
Transcript: ENSMUST00000209957

Predicted Effect

silent
Transcript: ENSMUST00000209963

Predicted Effect

unknown
Transcript: ENSMUST00000210125
AA Change: A10V

Predicted Effect

unknown
Transcript: ENSMUST00000211709
AA Change: G30D

Predicted Effect

silent
Transcript: ENSMUST00000211362

Predicted Effect

probably benign
Transcript: ENSMUST00000211414

Predicted Effect

probably benign
Transcript: ENSMUST00000210139

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.4%

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930556J24Rik	A	G	11: 3,976,366	K334E	possibly damaging	Het
Ache	G	A	5: 137,290,559	V176M	probably damaging	Het
Acss3	T	C	10: 106,948,744	D539G	probably damaging	Het
Adam6b	T	A	12: 113,491,463	D633E	probably benign	Het
Amigo2	G	A	15: 97,245,726	Q272*	probably null	Het
Appbp2	A	T	11: 85,210,099	H171Q	probably damaging	Het
Arhgef18	A	G	8: 3,439,499	D277G	probably damaging	Het
Armc8	A	G	9: 99,535,820	V95A	probably benign	Het
Atp6v0a4	C	T	6: 38,050,507		probably null	Het
Atp8a1	A	T	5: 67,767,153	N289K	probably benign	Het
Cand2	C	T	6: 115,791,743	L505F	probably damaging	Het
Ccnt2	A	G	1: 127,803,228	K614R	probably benign	Het
Col25a1	A	G	3: 130,478,983		probably null	Het
Copa	T	A	1: 172,118,944	L976*	probably null	Het
Ddx39b	T	C	17: 35,251,311	V267A	probably benign	Het
Doxl2	A	G	6: 48,976,322	T394A	possibly damaging	Het
Dpp4	T	A	2: 62,334,311	Q709L	probably damaging	Het
Eno4	A	G	19: 58,968,472		probably null	Het
Exoc3	A	G	13: 74,174,015	L647P	probably benign	Het
Eya4	T	C	10: 23,140,077	S308G	possibly damaging	Het
Fbxo41	T	C	6: 85,477,656	T693A	possibly damaging	Het
Fcgbp	A	G	7: 28,092,022	T903A	possibly damaging	Het
Fkbp10	G	T	11: 100,423,526	W384L	probably damaging	Het
Frem2	A	G	3: 53,652,505	I1527T	possibly damaging	Het
Gm14124	C	T	2: 150,269,474	H695Y	possibly damaging	Het
H13	T	A	2: 152,688,955	I220N	probably damaging	Het
Has2	T	C	15: 56,667,916	R468G	probably damaging	Het
Ighmbp2	A	G	19: 3,274,538	S243P	probably damaging	Het
Irs1	T	C	1: 82,288,734	H587R	probably benign	Het
Kcnk1	C	T	8: 126,025,405	T250M	probably damaging	Het
Kif9	T	C	9: 110,510,464	V458A	probably benign	Het
Krt14	T	C	11: 100,205,625	T208A	probably benign	Het
Mybpc3	C	A	2: 91,124,849	H349Q	possibly damaging	Het
Neurl3	T	A	1: 36,266,506	T207S	possibly damaging	Het
Nol9	T	C	4: 152,050,574	V388A	probably damaging	Het
Notch3	T	C	17: 32,157,987	N315D	probably damaging	Het
Oas1h	G	T	5: 120,870,982	A252S	probably damaging	Het
Olfr156	C	A	4: 43,821,183	M59I	probably damaging	Het
Pcbp1	G	A	6: 86,525,152	T255M	possibly damaging	Het
Plec	A	G	15: 76,199,608	V18A	probably benign	Het
Ppp1r17	A	T	6: 56,026,544	E114V	probably damaging	Het
Scamp5	A	T	9: 57,445,433	M151K	possibly damaging	Het
Sestd1	T	C	2: 77,218,168	Y135C	possibly damaging	Het
Slc22a21	T	G	11: 53,951,349	K534N	probably benign	Het
Slc25a12	T	C	2: 71,282,573	E448G	probably damaging	Het
Slco3a1	A	G	7: 74,346,818	L280P	probably damaging	Het
Sppl2b	C	A	10: 80,866,045		probably null	Het
Srd5a2	T	C	17: 74,027,019	E135G	possibly damaging	Het
Tfg	A	T	16: 56,701,104	M183K	probably damaging	Het
Ticrr	G	A	7: 79,679,133	M673I	probably benign	Het
Tm4sf20	T	G	1: 82,768,237	M61L	probably benign	Het
Ttll8	A	T	15: 88,939,006	S85T	possibly damaging	Het
Uggt2	G	A	14: 119,042,726	S780F	probably damaging	Het
Uroc1	T	C	6: 90,347,320	L442P	probably damaging	Het
Znrf3	A	G	11: 5,289,006		probably benign	Het
Zswim2	C	A	2: 83,925,183	D125Y	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
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'- GTTCGGGACCGTAAACGAAAAC -3'
(R):5'- CTATATAGCTCGCTTCCGGG -3'

Sequencing Primer
(F):5'- GCGAGGACAACCATCGC -3'
(R):5'- TCGCTTCCGGGCCCTAC -3'

Posted On

2017-01-03