Mutagenetix > Incidental Mutation

Incidental Mutation 'R7467:Aldh16a1'

578858

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 #

R7467 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

45140684-45154584 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 45145907 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 443 (Y443H)

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 benign
Transcript: ENSMUST00000107815
AA Change: Y443H

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000103445
Gene: ENSMUSG00000007833
AA Change: Y443H

Domain	Start	End	E-Value	Type
Pfam:Aldedh	48	488	3.8e-87	PFAM
Pfam:Aldedh	536	753	2.7e-30	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000209957

Predicted Effect

probably benign
Transcript: ENSMUST00000209963
AA Change: Y443H

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

Predicted Effect

probably benign
Transcript: ENSMUST00000210125

Predicted Effect

probably benign
Transcript: ENSMUST00000211169

Predicted Effect

probably benign
Transcript: ENSMUST00000211362

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

98% (103/105)

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: 106 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgre4	G	A	17: 55,791,952	V153I	probably benign	Het
Akap13	G	A	7: 75,730,465	R462H	probably damaging	Het
Apbb1	A	G	7: 105,566,132	V434A	probably benign	Het
Atrip	A	G	9: 109,069,354	M199T	probably damaging	Het
Atxn2	T	C	5: 121,802,267		probably null	Het
AU040320	A	G	4: 126,814,310	T240A	probably benign	Het
Btf3l4	A	T	4: 108,818,392		probably null	Het
Ccdc106	A	G	7: 5,060,326	T277A	probably damaging	Het
Cdk15	G	T	1: 59,289,779	W282L	probably null	Het
Cflar	T	A	1: 58,726,438	M1K	probably null	Het
Champ1	C	A	8: 13,878,579	P246T	possibly damaging	Het
Crat	A	C	2: 30,409,982	F129V	probably damaging	Het
Csmd3	T	C	15: 47,629,244	N2256S		Het
Cwh43	C	A	5: 73,411,968	Q118K	probably damaging	Het
Daam1	A	T	12: 71,985,806	K949*	probably null	Het
Ddn	C	G	15: 98,805,366	E682Q	possibly damaging	Het
Des	T	A	1: 75,362,961	M321K	possibly damaging	Het
Dnm2	T	C	9: 21,481,376	V460A	probably damaging	Het
Dst	G	A	1: 34,191,155	E2610K	probably benign	Het
Efr3a	C	T	15: 65,857,511	T660I	possibly damaging	Het
Eogt	T	C	6: 97,142,833	E138G	probably benign	Het
Epha8	G	A	4: 136,931,088	A992V	possibly damaging	Het
Exoc2	A	T	13: 30,925,733	D217E	probably damaging	Het
Fam222b	T	C	11: 78,154,347	S245P	probably damaging	Het
Fbxo45	T	C	16: 32,238,521	Y185C	probably damaging	Het
Fbxo47	T	C	11: 97,865,167	T170A	probably benign	Het
Fbxw26	A	T	9: 109,732,697	V143E	probably benign	Het
Foxb2	T	C	19: 16,873,640	M1V	probably null	Het
Gm11596	C	A	11: 99,793,136	V53L	unknown	Het
Gm37596	T	A	3: 93,692,958	T35S	probably benign	Het
Gm47791	A	G	1: 82,770,826	*140Q	probably null	Het
Gpr179	C	T	11: 97,335,289	M2013I	probably benign	Het
Hck	T	A	2: 153,129,930	L137*	probably null	Het
Hectd4	T	A	5: 121,323,961	C964S	possibly damaging	Het
Hexa	T	C	9: 59,557,400		probably null	Het
Ifna12	C	A	4: 88,603,265	S15I	possibly damaging	Het
Kif18b	C	A	11: 102,916,408	V34L	probably damaging	Het
Kif18b	A	T	11: 102,912,348		probably null	Het
Kifap3	A	T	1: 163,815,833	H209L	probably benign	Het
Klhl1	A	T	14: 96,123,277	D712E	probably damaging	Het
Kmt2c	T	C	5: 25,308,532	D3088G	probably damaging	Het
Mageb3	A	G	2: 121,954,472	Y250H	probably damaging	Het
Manba	G	T	3: 135,544,801	E396D	probably damaging	Het
Mapkbp1	T	A	2: 120,022,188	V997E	probably damaging	Het
Mdc1	A	G	17: 35,844,556	H41R	probably benign	Het
Mis18a	T	G	16: 90,719,978	M179L	probably benign	Het
Mmp25	C	G	17: 23,644,782	G25R	possibly damaging	Het
Mmp3	A	G	9: 7,447,621	D202G	possibly damaging	Het
Mmp3	C	T	9: 7,450,125	P286S	probably benign	Het
Mrgpra2b	G	A	7: 47,464,529	H152Y	possibly damaging	Het
Mslnl	A	T	17: 25,736,921	M1L	probably benign	Het
Myo1d	G	A	11: 80,586,917	T880I	probably damaging	Het
Ncaph	T	A	2: 127,133,875		probably benign	Het
Nln	T	C	13: 104,025,022	D680G	possibly damaging	Het
Noct	C	T	3: 51,225,201	A33V	probably benign	Het
Nolc1	A	G	19: 46,082,334	T325A	unknown	Het
Nr2e3	A	G	9: 59,949,151		probably null	Het
Nrg2	T	A	18: 36,022,406	H450L	probably benign	Het
Olfr1414	T	A	1: 92,511,848	Y60F	possibly damaging	Het
Olfr1434	T	A	19: 12,283,475	C142*	probably null	Het
Olfr224	A	C	11: 58,566,462	N294K	possibly damaging	Het
Olfr532	T	C	7: 140,419,374	N133S	probably benign	Het
Olfr994	T	G	2: 85,430,827	M1L	possibly damaging	Het
Pank2	T	A	2: 131,274,047	N128K	possibly damaging	Het
Pcdha3	T	C	18: 36,947,531	V442A	probably damaging	Het
Pds5b	T	A	5: 150,736,327	S252T	probably damaging	Het
Pfpl	T	C	19: 12,428,514	L43S	probably damaging	Het
Pigu	T	A	2: 155,299,089	I295F	probably damaging	Het
Piwil4	T	C	9: 14,705,041	Y673C	probably damaging	Het
Pls1	A	G	9: 95,769,113	Y414H	possibly damaging	Het
Ppp1r13l	A	T	7: 19,371,380	Q359L	probably damaging	Het
Ppp2r5c	A	G	12: 110,552,883	Y263C	probably damaging	Het
Prrc2c	A	T	1: 162,677,363	S2638R	possibly damaging	Het
Prss39	T	A	1: 34,499,392		probably null	Het
Psmd1	G	A	1: 86,116,633	V648M	probably damaging	Het
Rad50	T	C	11: 53,654,908	D1196G	probably damaging	Het
Rfx1	T	C	8: 84,073,913	Y48H	possibly damaging	Het
Rgs20	A	G	1: 4,912,330	I305T	probably benign	Het
Rpl9	T	C	5: 65,390,967	T9A	probably benign	Het
Samd4	A	G	14: 47,087,856	N598D	probably benign	Het
Sema7a	T	C	9: 57,961,422	Y606H	probably damaging	Het
Sf3b3	A	G	8: 110,811,456	S1150P	possibly damaging	Het
Sirt1	T	C	10: 63,322,150	N495S	probably benign	Het
Slc17a3	T	C	13: 23,846,967		probably null	Het
Slc25a22	T	C	7: 141,433,976	T24A	probably benign	Het
Slc30a9	T	C	5: 67,345,644	I363T	probably benign	Het
Srbd1	A	G	17: 86,099,274	V561A	probably damaging	Het
Srgap1	C	A	10: 121,855,439	E297*	probably null	Het
Srgap2	T	C	1: 131,292,667	S896G	probably damaging	Het
Sspo	T	C	6: 48,486,303	C3730R	probably damaging	Het
Stat2	T	A	10: 128,277,903		probably null	Het
Tcof1	T	C	18: 60,831,905	K581E	unknown	Het
Thbs1	T	C	2: 118,118,200	S446P	probably damaging	Het
Thsd7a	T	C	6: 12,331,585	Y1330C		Het
Tmem121	C	A	12: 113,189,070	P303T	probably benign	Het
Tmem87b	T	A	2: 128,849,151		probably null	Het
Tmem98	A	T	11: 80,820,185		probably null	Het
Trpm3	T	A	19: 22,978,334	I1091N	possibly damaging	Het
Urb2	A	G	8: 124,028,511	E319G	probably benign	Het
Vmn1r170	A	T	7: 23,606,895	M241L	not run	Het
Vmn1r238	T	C	18: 3,123,393	N7S	probably benign	Het
Wdr6	T	C	9: 108,573,002	H1109R	probably benign	Het
Zdhhc13	T	C	7: 48,804,408	V193A	probably benign	Het
Zfp354c	T	C	11: 50,815,426	Y274C	probably damaging	Het
Zfp738	T	A	13: 67,672,961	E89V	probably benign	Het
Zswim3	T	A	2: 164,819,875	F92I	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
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
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'- TGGATGGGCACTCACATCTG -3'
(R):5'- GAGTTTGCTCTCCGACTAACGC -3'

Sequencing Primer
(F):5'- GGAAGACCCACTCTCCTTGCAG -3'
(R):5'- CCGACTAACGCTTGTCACC -3'

Posted On

2019-10-07