Mutagenetix > Incidental Mutation

Incidental Mutation 'R7636:Aldh16a1'

589958

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 #

R7636 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

45140684-45154584 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 45147531 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Threonine at position 58 (P58T)

Ref Sequence

ENSEMBL: ENSMUSP00000147622 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000107815] [ENSMUST00000209957] [ENSMUST00000209963] [ENSMUST00000210125] [ENSMUST00000211169] [ENSMUST00000211362]

AlphaFold

no structure available at present

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

probably benign
Transcript: ENSMUST00000209957

Predicted Effect

silent
Transcript: ENSMUST00000209963

Predicted Effect

unknown
Transcript: ENSMUST00000210125
AA Change: P58T

Predicted Effect

probably benign
Transcript: ENSMUST00000211169

Predicted Effect

probably benign
Transcript: ENSMUST00000211362

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (55/55)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610318N02Rik	C	T	16: 17,117,837	E199K	possibly damaging	Het
4932415D10Rik	T	A	10: 82,295,139	D679V	probably benign	Het
Akap13	C	A	7: 75,609,873	N748K	probably benign	Het
Amhr2	T	A	15: 102,452,458	C343S	probably damaging	Het
Ankrd17	A	T	5: 90,232,380	M2483K	possibly damaging	Het
Ano3	A	T	2: 110,682,703	L649*	probably null	Het
Apob	T	C	12: 8,009,516	I2666T	possibly damaging	Het
C1ql3	A	T	2: 13,010,810	V13E	probably benign	Het
Casp12	A	G	9: 5,358,344	I384V	probably benign	Het
Clcn1	A	T	6: 42,291,334	K147*	probably null	Het
Ctnna1	T	A	18: 35,223,473	N398K	possibly damaging	Het
Dcdc2a	A	T	13: 25,102,622	K176M	probably damaging	Het
Depdc5	T	A	5: 32,917,983	S502T	probably benign	Het
Fam166a	A	T	2: 25,218,820	H7L	probably damaging	Het
Fam83e	G	A	7: 45,727,026	D388N	probably damaging	Het
Fbxl15	G	A	19: 46,329,175	E99K	probably benign	Het
Fbxw2	T	C	2: 34,812,944	T186A	probably benign	Het
Frem2	T	A	3: 53,653,247	M1280L	probably benign	Het
Gbgt1	T	A	2: 28,505,314	D321E	probably damaging	Het
Gsdmc2	T	A	15: 63,828,192	T244S	probably benign	Het
Heatr5a	C	A	12: 51,888,196	G1675W	probably damaging	Het
Heatr5a	G	A	12: 51,952,558	L287F	probably damaging	Het
Hfm1	C	A	5: 106,917,466	A116S	probably benign	Het
Insr	A	G	8: 3,258,709	I109T	probably damaging	Het
Itga4	A	G	2: 79,313,832	I688V	probably benign	Het
Lipe	A	G	7: 25,388,617	M49T	probably benign	Het
Lrriq3	A	G	3: 155,188,150	Y496C	probably damaging	Het
Lyst	T	C	13: 13,616,747		probably null	Het
Megf10	T	A	18: 57,276,989	I614N	possibly damaging	Het
Mkx	A	G	18: 7,000,630	I104T	possibly damaging	Het
Mrgpra4	C	A	7: 47,980,973	L293F	possibly damaging	Het
Olfm2	A	G	9: 20,668,297	V386A	possibly damaging	Het
Olfr1234	A	T	2: 89,363,239	Y63*	probably null	Het
Olfr317	A	T	11: 58,732,447	N239K	possibly damaging	Het
Olfr605	C	A	7: 103,442,833	D97Y	probably damaging	Het
Pkd2l1	G	T	19: 44,191,431	D113E	possibly damaging	Het
Rab11fip2	A	T	19: 59,942,885	I39K	possibly damaging	Het
Rab1b	A	T	19: 5,100,782	V99E	probably damaging	Het
Rad54l2	A	T	9: 106,720,387	L140Q	probably damaging	Het
Repin1	T	C	6: 48,596,365	F76S	probably benign	Het
Robo1	A	G	16: 72,563,727	D9G		Het
Scn3a	A	G	2: 65,497,689	L819P	probably damaging	Het
Scn7a	A	T	2: 66,743,828	N150K	possibly damaging	Het
Sh2d3c	T	C	2: 32,725,011	S38P	probably benign	Het
Sin3b	A	T	8: 72,747,734	K549*	probably null	Het
Sorl1	A	G	9: 42,092,334	F222S	possibly damaging	Het
Tmem147	A	T	7: 30,728,301		probably null	Het
Tmem161b	C	A	13: 84,222,418		probably benign	Het
Tmem179	C	T	12: 112,510,743		probably null	Het
Tubg2	A	T	11: 101,160,087	I213F	probably damaging	Het
Zfhx3	T	C	8: 108,946,809	I1497T	probably benign	Het
Zfp128	A	T	7: 12,890,112	M136L	probably benign	Het
Zzz3	G	A	3: 152,427,652	A116T	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
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
R7467:Aldh16a1	UTSW	7	45145907	missense	probably benign	0.03
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'- CCCCATGGGTTTCAGGTATG -3'
(R):5'- GTAGGTAAAGTCTCTGGTGCC -3'

Sequencing Primer
(F):5'- TTTCAGGTATGGCAGGAGC -3'
(R):5'- AGATGGTTGGGGTCCAAG -3'

Posted On

2019-10-24