Mutagenetix > Incidental Mutation

Incidental Mutation 'R5591:Aldh16a1'

437525

Institutional Source

Beutler Lab

Gene Symbol

Aldh16a1

Ensembl Gene

ENSMUSG00000007833

Gene Name

aldehyde dehydrogenase 16 family, member A1

Synonyms

MMRRC Submission

043269-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5591 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

45140684-45154584 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 45144652 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 13 (E13G)

Ref Sequence

ENSEMBL: ENSMUSP00000148006 (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: E600G

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000007977
Gene: ENSMUSG00000007833
AA Change: E600G

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: E600G

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000103445
Gene: ENSMUSG00000007833
AA Change: E600G

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: E736G

Predicted Effect

probably null
Transcript: ENSMUST00000134655
AA Change: E13G

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000119021
Gene: ENSMUSG00000007833
AA Change: E13G

Domain	Start	End	E-Value	Type
low complexity region	2	12	N/A	INTRINSIC

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

possibly damaging
Transcript: ENSMUST00000209963
AA Change: E600G

PolyPhen 2 Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)

Predicted Effect

probably benign
Transcript: ENSMUST00000210125

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210352

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210539

Predicted Effect

probably null
Transcript: ENSMUST00000211169
AA Change: E13G

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210725

Predicted Effect

probably benign
Transcript: ENSMUST00000211362

Meta Mutation Damage Score

0.2397

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.2%

Validation Efficiency

97% (56/58)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd39	C	T	1: 36,541,981	G96R	probably damaging	Het
Bub1	A	T	2: 127,819,343	M276K	probably benign	Het
Casp14	A	T	10: 78,714,345	D156E	unknown	Het
Ccdc82	T	A	9: 13,272,503		probably null	Het
Cdc42bpb	T	C	12: 111,323,087	N436S	probably benign	Het
Cyp2j12	A	G	4: 96,141,122		probably benign	Het
Cysltr2	T	C	14: 73,029,491	K260E	probably benign	Het
Daxx	T	C	17: 33,911,688	S226P	probably damaging	Het
Gm13101	G	T	4: 143,964,960	L398I	probably damaging	Het
Gm3676	T	C	14: 41,643,224	Y158C	probably benign	Het
Gm7102	C	T	19: 61,175,926	G24R	unknown	Het
Gnai1	A	T	5: 18,271,846	I285K	probably benign	Het
Gpr179	C	T	11: 97,345,755	V417I	probably benign	Het
Helz2	C	T	2: 181,240,258	M247I	probably damaging	Het
Hmcn2	C	T	2: 31,344,047	L275F	probably damaging	Het
Ifi27l2b	A	G	12: 103,451,307	V207A	probably damaging	Het
Isg20l2	C	T	3: 87,930,424		probably benign	Het
Itga6	A	G	2: 71,840,590	D221G	probably damaging	Het
Lca5l	T	C	16: 96,178,729	Y67C	probably damaging	Het
Loxl3	T	A	6: 83,048,037	C249S	probably damaging	Het
Luc7l3	T	C	11: 94,293,234		probably benign	Het
Lyst	T	G	13: 13,743,333	I3326S	probably damaging	Het
Mbd5	A	C	2: 49,274,669	Q958H	probably damaging	Het
Mlip	G	A	9: 77,230,482	S381L	probably damaging	Het
Mpp6	A	G	6: 50,180,179	S276G	probably benign	Het
Mrm3	G	A	11: 76,250,081	R305H	probably benign	Het
Olfr1261	A	G	2: 89,993,407	T5A	possibly damaging	Het
Olfr1328	A	T	4: 118,934,461	I127K	probably damaging	Het
Olfr170	T	A	16: 19,605,858	Q270L	probably damaging	Het
Olfr320	A	G	11: 58,684,125	N84S	probably benign	Het
Olfr347	A	T	2: 36,735,232	I304F	probably benign	Het
Olfr635	G	T	7: 103,980,113	R307L	probably benign	Het
Olfr709-ps1	A	T	7: 106,927,282	M59K	probably damaging	Het
P3h3	C	T	6: 124,854,695		probably benign	Het
Plekhg3	C	T	12: 76,560,292	S42L	possibly damaging	Het
Polq	A	G	16: 37,011,885		probably benign	Het
Pramef25	T	C	4: 143,948,807	Y483C	probably damaging	Het
Raph1	G	A	1: 60,501,746		probably benign	Het
Rnf144b	G	A	13: 47,242,954		probably null	Het
Ryr2	A	G	13: 11,595,014	S4309P	probably benign	Het
Sash1	A	T	10: 8,725,718	S1158T	probably benign	Het
Sim2	T	C	16: 94,097,189	V94A	probably damaging	Het
Sirt5	A	G	13: 43,371,841	D42G	possibly damaging	Het
Skiv2l2	A	T	13: 112,927,356	M1K	probably null	Het
Smarcal1	A	T	1: 72,591,253	K155N	probably damaging	Het
Spam1	A	G	6: 24,800,546	Y428C	probably damaging	Het
Spef2	T	C	15: 9,583,836	N1655S	probably benign	Het
Sympk	A	G	7: 19,054,039	E1160G	probably damaging	Het
Tmem192	A	G	8: 64,965,602	Y168C	possibly damaging	Het
Ttn	T	A	2: 76,709,668	M25998L	probably benign	Het
Usp48	A	G	4: 137,652,652		probably benign	Het
Vamp4	A	G	1: 162,588,242	I71V	possibly damaging	Het
Washc5	C	A	15: 59,369,163	D108Y	probably damaging	Het
Wdfy4	T	A	14: 33,107,130	H1043L	probably benign	Het
Zcchc14	C	T	8: 121,605,448		probably benign	Het
Zfp407	A	G	18: 84,561,137	F617S	probably damaging	Het
Zfp869	T	A	8: 69,707,692	N77I	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
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'- TAAGCCTGGACTTGTGCCTG -3'
(R):5'- TAGAAGTACACTTGGGACTGGAGC -3'

Sequencing Primer
(F):5'- CTGACTCTTGGCTGGCTGAC -3'
(R):5'- TTGGGACTGGAGCCCTGG -3'

Posted On

2016-10-26