Mutagenetix > Incidental Mutation

Incidental Mutation 'R0305:Aldh16a1'

24897

Institutional Source

Beutler Lab

Gene Symbol

Aldh16a1

Ensembl Gene

ENSMUSG00000007833

Gene Name

aldehyde dehydrogenase 16 family, member A1

Synonyms

MMRRC Submission

038516-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0305 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

45140684-45154584 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 45147979 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 135 (R135Q)

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: R135Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000007977
Gene: ENSMUSG00000007833
AA Change: R135Q

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: R135Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000103445
Gene: ENSMUSG00000007833
AA Change: R135Q

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

probably damaging
Transcript: ENSMUST00000209963
AA Change: R135Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

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

0.2041

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.5%
20x: 91.2%

Validation Efficiency

100% (59/59)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022A10Rik	G	A	7: 27,574,636	R183Q	probably damaging	Het
Abca5	A	G	11: 110,273,311		probably benign	Het
Ada	T	C	2: 163,728,157	K312R	probably benign	Het
Adam21	C	A	12: 81,560,285	K234N	possibly damaging	Het
Afdn	T	A	17: 13,888,514		probably null	Het
Aimp1	T	G	3: 132,673,986	K132Q	possibly damaging	Het
Alox12b	A	T	11: 69,167,379	Y519F	probably benign	Het
Alppl2	T	C	1: 87,089,602	E25G	probably benign	Het
Apob	A	T	12: 8,012,210	N3531I	probably damaging	Het
Arhgap23	T	C	11: 97,501,109	L321P	probably damaging	Het
Cab39l	C	T	14: 59,519,579	Q137*	probably null	Het
Cenpo	A	T	12: 4,216,660	H149Q	possibly damaging	Het
Cpt1a	A	G	19: 3,378,455	T610A	probably benign	Het
Dcbld2	A	G	16: 58,448,939	T271A	probably damaging	Het
Dcps	A	G	9: 35,175,769		probably null	Het
Dnaic2	A	G	11: 114,752,894	D462G	probably benign	Het
Dsg2	T	A	18: 20,582,695		probably benign	Het
Eomes	A	T	9: 118,484,757	E623D	probably benign	Het
Fam19a5	T	A	15: 87,720,508	I83N	probably damaging	Het
Fras1	A	T	5: 96,596,888	H594L	probably benign	Het
Gad1-ps	T	G	10: 99,444,803		noncoding transcript	Het
Galk2	A	G	2: 125,887,888	Y63C	probably damaging	Het
H2-T10	A	G	17: 36,119,368	L227P	probably damaging	Het
Itgb4	T	G	11: 115,979,412	C73G	probably damaging	Het
Itpr2	T	C	6: 146,311,103	H1472R	possibly damaging	Het
Kcnh5	C	T	12: 75,114,397	A246T	probably benign	Het
Kpna6	G	T	4: 129,649,249	R458S	probably benign	Het
Lifr	A	G	15: 7,177,501	T498A	probably damaging	Het
Lrrd1	T	G	5: 3,865,707	I768S	probably damaging	Het
Map2	T	C	1: 66,413,094	V223A	probably benign	Het
Nod2	G	A	8: 88,665,323	A731T	probably damaging	Het
Nrxn2	G	A	19: 6,519,283	C1403Y	probably damaging	Het
Nxph1	A	T	6: 9,247,754	I242F	probably damaging	Het
Olfr507	G	A	7: 108,622,585	V258I	probably benign	Het
Pgr	A	G	9: 8,902,087		probably benign	Het
Pik3cb	A	G	9: 99,064,076	S566P	possibly damaging	Het
Sema4d	T	C	13: 51,712,728	Y242C	probably damaging	Het
Sftpc	T	A	14: 70,524,078		probably benign	Het
Sh3tc1	T	G	5: 35,723,999	E33D	probably benign	Het
Slc17a5	A	G	9: 78,557,537	L344P	probably benign	Het
Slc39a5	T	A	10: 128,398,396		probably benign	Het
Slc7a13	C	A	4: 19,839,401	H335N	probably benign	Het
Slco1a4	A	C	6: 141,817,753	N412K	possibly damaging	Het
Sox1	A	T	8: 12,396,736	T126S	probably damaging	Het
Specc1l	T	A	10: 75,245,829	V353E	probably damaging	Het
Stat5b	T	C	11: 100,802,503	E104G	probably benign	Het
Sult4a1	A	G	15: 84,086,667	V179A	probably damaging	Het
Tbl3	G	A	17: 24,705,461	R134C	probably damaging	Het
Tmem256	T	A	11: 69,838,911		probably benign	Het
Tmigd1	A	G	11: 76,907,134	T101A	probably damaging	Het
Unc5b	C	A	10: 60,779,658		probably benign	Het
Unc79	T	A	12: 103,113,200	S1679T	probably benign	Het
Vmn2r1	T	G	3: 64,089,666	C248G	probably damaging	Het
Vmn2r57	T	C	7: 41,427,543	I400V	probably benign	Het
Vwa8	T	A	14: 79,009,273	L685H	probably damaging	Het
Yeats4	A	G	10: 117,215,836	F172S	probably damaging	Het
Zfpm2	T	G	15: 40,774,035		probably benign	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
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
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'- TCCATAATGAGCGCATGGACGG -3'
(R):5'- GGTAATCAGTGACCAGGAGCATCG -3'

Sequencing Primer
(F):5'- CATGGACGGGTTGGTTTTC -3'
(R):5'- ACAGAGTCTGACACTCTCTTGTAG -3'

Posted On

2013-04-16