Mutagenetix > Incidental Mutation

Incidental Mutation 'R0532:Aldh16a1'

49244

Institutional Source

Beutler Lab

Gene Symbol

Aldh16a1

Ensembl Gene

ENSMUSG00000007833

Gene Name

aldehyde dehydrogenase 16 family, member A1

Synonyms

MMRRC Submission

038724-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0532 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

45140684-45154584 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 45142838 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Asparagine at position 730 (T730N)

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 damaging
Transcript: ENSMUST00000007977
AA Change: T730N

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000007977
Gene: ENSMUSG00000007833
AA Change: T730N

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 damaging
Transcript: ENSMUST00000107815
AA Change: T730N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000103445
Gene: ENSMUSG00000007833
AA Change: T730N

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: ENSMUST00000209957

Predicted Effect

probably damaging
Transcript: ENSMUST00000209963
AA Change: T730N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

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

0.7880

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.5%
20x: 93.2%

Validation Efficiency

100% (90/90)

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: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921524L21Rik	A	T	18: 6,638,618	E339V	possibly damaging	Het
9230009I02Rik	A	T	11: 51,091,578		noncoding transcript	Het
9230112D13Rik	A	T	14: 34,512,097	I79K	unknown	Het
Adam25	C	T	8: 40,755,950	T751I	probably benign	Het
Adgrv1	C	A	13: 81,578,896	V446L	probably damaging	Het
Afap1	C	A	5: 35,968,600	A313D	possibly damaging	Het
Akap6	A	G	12: 52,887,983	T753A	probably benign	Het
Amfr	A	T	8: 93,999,108	M215K	probably damaging	Het
Apob	A	G	12: 8,016,188	R4386G	possibly damaging	Het
Arhgap45	A	T	10: 80,022,083	M217L	possibly damaging	Het
Baiap2l2	C	T	15: 79,284,076	E49K	possibly damaging	Het
Baz1a	C	T	12: 54,934,820	E350K	possibly damaging	Het
Bbx	A	T	16: 50,266,284	V83D	probably damaging	Het
Btaf1	T	C	19: 36,951,186		probably benign	Het
Cacna2d1	G	A	5: 16,362,273	E942K	probably benign	Het
Cad	T	C	5: 31,062,187		probably benign	Het
Ccdc96	A	G	5: 36,486,366	K572R	probably benign	Het
Cdc5l	G	A	17: 45,415,684	R321W	probably damaging	Het
Cep164	G	A	9: 45,809,826	R93*	probably null	Het
Cir1	A	G	2: 73,310,455		probably null	Het
Crocc	A	G	4: 141,030,247	S912P	possibly damaging	Het
Cwf19l2	T	C	9: 3,431,057	L463P	probably benign	Het
Cyp3a59	C	T	5: 146,096,653	Q200*	probably null	Het
Cyp4b1	G	T	4: 115,626,876	P303T	probably damaging	Het
Dcbld1	C	A	10: 52,317,077	T306K	probably benign	Het
Dgat2	A	G	7: 99,169,781	V56A	possibly damaging	Het
Dnajc16	A	C	4: 141,789,009	L16R	probably damaging	Het
Dnmt1	A	C	9: 20,918,556		probably benign	Het
Dus3l	A	G	17: 56,769,308	I528V	probably damaging	Het
Egflam	T	C	15: 7,234,237	D744G	probably benign	Het
Epb41	A	C	4: 131,978,795		probably benign	Het
Eri2	C	T	7: 119,785,983	V432I	probably benign	Het
Esyt2	A	G	12: 116,357,198		probably benign	Het
Extl3	A	T	14: 65,077,673	M20K	probably benign	Het
Fam32a	A	G	8: 72,222,219	Y103C	probably damaging	Het
Fat4	T	C	3: 38,981,721	V3174A	probably benign	Het
Fbxo40	T	A	16: 36,969,622	E375D	possibly damaging	Het
Frrs1	A	G	3: 116,883,164	T182A	probably benign	Het
Fry	A	G	5: 150,433,707		probably benign	Het
Fry	T	C	5: 150,478,761		probably benign	Het
Fsip2	A	G	2: 82,977,785	I1483V	probably benign	Het
Glra3	T	A	8: 56,125,076	D389E	probably benign	Het
Gpr3	A	T	4: 133,210,485	I292N	probably damaging	Het
Grina	T	C	15: 76,248,845	M230T	probably damaging	Het
Igkv11-125	G	A	6: 67,913,619	W16*	probably null	Het
Il18r1	T	C	1: 40,474,901	V89A	probably damaging	Het
Ino80	T	C	2: 119,381,983	E1286G	possibly damaging	Het
Iqch	G	A	9: 63,508,232		probably benign	Het
Itpr2	G	T	6: 146,112,400	Q2666K	probably damaging	Het
Kcnh3	A	G	15: 99,232,963	D487G	probably damaging	Het
Kdm1a	A	G	4: 136,561,066	L402P	probably damaging	Het
Klhl10	T	G	11: 100,447,111		probably benign	Het
Krt39	T	C	11: 99,514,791	T428A	possibly damaging	Het
Mapk3	G	A	7: 126,763,386		probably benign	Het
Med13l	T	A	5: 118,759,123	S2089T	possibly damaging	Het
Mex3c	G	A	18: 73,590,053	D406N	possibly damaging	Het
Mki67	G	A	7: 135,698,164	R1714*	probably null	Het
Mmp9	C	A	2: 164,949,820	S211*	probably null	Het
Nat8f2	G	T	6: 85,867,802	Q193K	probably benign	Het
Olfr1333	T	G	4: 118,829,700	T247P	probably damaging	Het
Olfr204	T	C	16: 59,314,601	K269E	probably benign	Het
Omt2a	C	A	9: 78,312,905	A71S	possibly damaging	Het
Pdgfra	G	A	5: 75,170,773	V315I	probably benign	Het
Pdgfrb	A	G	18: 61,083,265	D1065G	probably damaging	Het
Pfas	A	T	11: 69,002,629		probably benign	Het
Pramel5	T	C	4: 144,272,740	E259G	probably benign	Het
Prpf6	A	G	2: 181,622,211	Y222C	possibly damaging	Het
Rbck1	C	A	2: 152,324,330	Q229H	probably damaging	Het
Rdm1	T	A	11: 101,635,835	C278S	probably benign	Het
Sall1	T	C	8: 89,033,191	D95G	probably benign	Het
Scn1a	T	A	2: 66,317,823	D1126V	probably damaging	Het
Scn4a	C	T	11: 106,330,400	G811D	probably benign	Het
Sh2b1	A	G	7: 126,472,272	I247T	probably benign	Het
Shprh	C	A	10: 11,162,812	T437K	possibly damaging	Het
Slc13a4	A	T	6: 35,287,404		probably null	Het
Slc16a1	C	A	3: 104,653,418	Y346*	probably null	Het
Slc25a38	G	T	9: 120,120,706	A163S	probably damaging	Het
Slc6a12	G	A	6: 121,356,918	V238I	probably damaging	Het
Slc8b1	C	A	5: 120,519,671	D66E	probably damaging	Het
Snapin	A	G	3: 90,489,586	L106P	probably damaging	Het
Tas2r122	G	A	6: 132,711,828	S34F	possibly damaging	Het
Tiam2	A	G	17: 3,421,646	K521R	probably damaging	Het
Tmem81	C	G	1: 132,507,829	I124M	probably damaging	Het
Ttc3	T	C	16: 94,387,330		probably benign	Het
Uba1y	T	C	Y: 820,911	F31L	probably benign	Het
Ucp3	A	G	7: 100,481,979		probably benign	Het
Vcan	T	C	13: 89,703,772	E1023G	probably damaging	Het
Vmn2r45	A	G	7: 8,471,821	I736T	probably damaging	Het
Vps36	T	C	8: 22,218,245	F342L	probably benign	Het
Zc3hc1	A	G	6: 30,374,930		probably benign	Het
Zmym4	G	A	4: 126,898,401	Q596*	probably null	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
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

Predicted Primers

PCR Primer
(F):5'- CCCTTGTGAAGAAGACTGCCTTCC -3'
(R):5'- ATTCCTTGCATGAGCCCCTACAGC -3'

Sequencing Primer
(F):5'- agaacagccagagctacac -3'
(R):5'- CTACAGCCACTGCCAGATG -3'

Posted On

2013-06-12