Mutagenetix > Incidental Mutation

Incidental Mutation 'R5647:Aldh16a1'

441216

Institutional Source

Beutler Lab

Gene Symbol

Aldh16a1

Ensembl Gene

ENSMUSG00000007833

Gene Name

aldehyde dehydrogenase 16 family, member A1

Synonyms

MMRRC Submission

043295-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5647 (G1)

Quality Score

189

Status

Validated

Chromosome

Chromosomal Location

45140684-45154584 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 45154465 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 6 (V6A)

Ref Sequence

ENSEMBL: ENSMUSP00000147810 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000007977
AA Change: V6A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000007977
Gene: ENSMUSG00000007833
AA Change: V6A

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 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

probably benign
Transcript: ENSMUST00000107815
AA Change: V6A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000103445
Gene: ENSMUSG00000007833
AA Change: V6A

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: ENSMUST00000126618
AA Change: V21A

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150880
AA Change: V9A

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

probably benign
Transcript: ENSMUST00000209957
AA Change: V6A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

probably benign
Transcript: ENSMUST00000209963
AA Change: V6A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000210125

Predicted Effect

probably benign
Transcript: ENSMUST00000211362
AA Change: V6A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

probably benign
Transcript: ENSMUST00000211709

Predicted Effect

probably benign
Transcript: ENSMUST00000211414

Predicted Effect

probably benign
Transcript: ENSMUST00000210139

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.0%
20x: 94.7%

Validation Efficiency

95% (55/58)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010L04Rik	T	C	7: 82,856,398		noncoding transcript	Het
9330159F19Rik	A	T	10: 29,225,254	D541V	probably damaging	Het
9930021J03Rik	A	G	19: 29,753,810	S601P	possibly damaging	Het
Abcc5	T	C	16: 20,399,847	I262V	probably damaging	Het
Acvr1c	T	A	2: 58,295,964	D169V	probably damaging	Het
Cd36	A	C	5: 17,814,765	S113A	probably damaging	Het
Cdt1	G	T	8: 122,570,208	R247L	possibly damaging	Het
Ces4a	G	A	8: 105,146,080	V322M	probably benign	Het
Cngb3	A	T	4: 19,364,266	T157S	possibly damaging	Het
Cpped1	T	C	16: 11,828,146		probably benign	Het
Ctr9	G	T	7: 111,055,544	R1094L	unknown	Het
Cyld	A	T	8: 88,734,926	I664L	probably benign	Het
Dvl2	C	T	11: 70,009,449	P690S	possibly damaging	Het
Fbxo7	A	C	10: 86,029,110	E94D	probably damaging	Het
Fstl5	A	C	3: 76,589,092	K387N	probably damaging	Het
Gm884	T	C	11: 103,617,474		probably benign	Het
Gm9845	A	C	3: 39,358,371		noncoding transcript	Het
Hk1	T	C	10: 62,275,744	D746G	probably damaging	Het
Lmbr1	A	G	5: 29,263,393		probably null	Het
Lrp2	C	T	2: 69,519,914	A705T	probably null	Het
Mybpc3	A	G	2: 91,121,722		probably null	Het
Myo15b	T	A	11: 115,871,511	L1219Q	probably damaging	Het
Naa35	G	A	13: 59,622,866		probably benign	Het
Olfr1279	G	T	2: 111,307,047	A281S	possibly damaging	Het
Olfr1465	A	T	19: 13,314,189	I32N	probably damaging	Het
Olfr1467	T	C	19: 13,365,177	V183A	probably damaging	Het
Pcdhb18	G	A	18: 37,490,484	R289Q	probably benign	Het
Pcnt	T	C	10: 76,385,841	T1984A	probably benign	Het
Plcg1	T	C	2: 160,751,668	L251P	probably benign	Het
Plin1	T	A	7: 79,721,572	D468V	probably benign	Het
Pmp2	A	G	3: 10,183,785	V12A	probably benign	Het
Rnf19a	T	A	15: 36,265,963		probably benign	Het
Rnf214	G	A	9: 45,868,046	Q469*	probably null	Het
Rrp1b	T	G	17: 32,056,011		probably benign	Het
Rtl1	C	T	12: 109,594,679	R242Q	unknown	Het
Sema3e	A	T	5: 14,225,553	E224V	probably damaging	Het
Sphkap	A	G	1: 83,407,999	S5P	probably damaging	Het
Stab1	A	C	14: 31,157,440	Y694*	probably null	Het
Stambpl1	T	C	19: 34,234,286	L249P	probably benign	Het
Thap4	A	T	1: 93,714,943	H515Q	probably damaging	Het
Ticam1	TCACACA	TCACA	17: 56,270,629		probably null	Het
Uaca	A	G	9: 60,872,098	R1256G	probably benign	Het
Usp17lb	T	A	7: 104,840,674	N348Y	possibly damaging	Het
Vmn1r42	A	G	6: 89,845,332	I85T	probably benign	Het
Vps9d1	A	T	8: 123,248,859	L149Q	probably damaging	Het
Zdhhc17	A	T	10: 110,973,833	I153N	probably damaging	Het
Zfp207	G	A	11: 80,393,133	S293N	possibly damaging	Het
Zfp346	A	G	13: 55,122,357	D198G	probably damaging	Het
Zfp953	A	T	13: 67,343,472	C139S	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
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

Predicted Primers

PCR Primer
(F):5'- ACTGTAGGGGAAATCACGC -3'
(R):5'- ATGTCTGTTCTCCCCGAAAC -3'

Sequencing Primer
(F):5'- AATCACGCGCTCAGAGGG -3'
(R):5'- ATCGCGCGGCTCTAAAGTAG -3'

Posted On

2016-11-08