Mutagenetix > Incidental Mutation

Incidental Mutation 'R9620:Aldh16a1'

724711

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 #

R9620 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

45140684-45154584 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 45147989 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 132 (R132*)

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 null
Transcript: ENSMUST00000107815
AA Change: R132*

SMART Domains

Protein: ENSMUSP00000103445
Gene: ENSMUSG00000007833
AA Change: R132*

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 null
Transcript: ENSMUST00000209963
AA Change: R132*

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: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630095E13Rik	A	G	9: 36,637,202		probably null	Het
Abhd3	G	T	18: 10,704,605	T151K	possibly damaging	Het
Acsf2	C	T	11: 94,572,586	W130*	probably null	Het
Amer3	C	T	1: 34,588,962	P761S	probably benign	Het
Amotl1	G	T	9: 14,548,673	D886E	probably damaging	Het
Cacna1s	T	C	1: 136,108,171	F1383S	probably damaging	Het
Casc4	T	C	2: 121,906,761	V261A	probably benign	Het
Col14a1	T	A	15: 55,362,385	V148E	unknown	Het
Col9a2	T	A	4: 121,053,206		probably null	Het
Cyp2a5	T	A	7: 26,837,211	M205K	possibly damaging	Het
Dcst2	A	T	3: 89,370,518	Q466L	possibly damaging	Het
Ecel1	T	C	1: 87,153,131	I350V	possibly damaging	Het
Enthd1	G	A	15: 80,452,700	T511I	probably benign	Het
Exoc6b	T	A	6: 85,011,320	K92*	probably null	Het
Fam181a	T	G	12: 103,316,332	Y165*	probably null	Het
Fam205c	TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG	TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG	4: 42,871,823		probably benign	Het
Fam71d	A	C	12: 78,715,303	D247A	probably damaging	Het
Fbxo34	A	G	14: 47,531,268	Y746C	probably damaging	Het
Fgfr4	T	A	13: 55,161,181	S372T	possibly damaging	Het
Fmo1	A	G	1: 162,833,821	F298L	probably benign	Het
Gad1	A	C	2: 70,574,276	D170A	possibly damaging	Het
Golgb1	T	C	16: 36,919,449	S2758P	probably benign	Het
H2afv	A	T	11: 6,429,094		probably null	Het
Ilkap	A	G	1: 91,376,251	C163R		Het
Krt9	A	T	11: 100,188,360	D735E	unknown	Het
Lipo3	A	T	19: 33,582,229	C80*	probably null	Het
Lpcat3	C	T	6: 124,703,580	P478L	probably damaging	Het
Luc7l3	G	A	11: 94,321,719	R24C	unknown	Het
Mafa	T	A	15: 75,747,312	H204L	probably benign	Het
Mapk10	A	C	5: 102,966,607	V305G	probably damaging	Het
Mgat1	T	C	11: 49,261,295	F202L	probably benign	Het
Micalcl	A	T	7: 112,381,196	T126S	probably benign	Het
Mill1	G	A	7: 18,263,102	R206H	probably benign	Het
Nlrc5	A	T	8: 94,476,406	Y378F	probably benign	Het
Nlrp9a	G	T	7: 26,551,044	R78L	probably damaging	Het
Olfr1358	G	T	10: 78,520,294	A229S	probably benign	Het
Olfr150	A	T	9: 39,736,991	M59L		Het
Olfr556	A	T	7: 102,670,804	I295F	possibly damaging	Het
Orc6	A	T	8: 85,299,801		probably benign	Het
Pcdhgb5	C	T	18: 37,731,433	Q94*	probably null	Het
Pcnx	A	G	12: 81,950,186	D952G	probably damaging	Het
Ppfia2	A	T	10: 106,913,658	H1135L		Het
Prmt2	A	T	10: 76,225,379	I91N	probably damaging	Het
Ptprm	A	G	17: 66,809,489	Y932H	probably damaging	Het
Qrich2	T	C	11: 116,447,120	K154R	probably damaging	Het
Rapgef4	A	G	2: 72,205,707	T515A	probably benign	Het
Rgmb	G	A	17: 15,821,017	R103*	probably null	Het
Ripk1	T	G	13: 34,026,823	S334A	possibly damaging	Het
Rnf5	C	T	17: 34,601,747	G147S	possibly damaging	Het
Ryr1	T	C	7: 29,015,713	Y4662C	unknown	Het
Secisbp2l	A	G	2: 125,747,474	M718T	probably damaging	Het
Slc16a6	T	C	11: 109,463,496	T100A	probably benign	Het
Slc27a6	T	A	18: 58,609,815	M525K	probably damaging	Het
Slco2a1	G	C	9: 103,084,866	C579S	probably damaging	Het
Snx14	A	G	9: 88,381,741	S864P	probably damaging	Het
Sptbn2	T	C	19: 4,750,507	L2250P	probably damaging	Het
Tlr6	A	T	5: 64,954,803	S254T	possibly damaging	Het
Trap1	A	T	16: 4,040,219	Y675*	probably null	Het
Ttc9b	C	A	7: 27,654,087	A54E	probably damaging	Het
Unc45a	A	C	7: 80,325,655	Y934D	probably damaging	Het
Usp17ld	A	G	7: 103,250,972	L251P	possibly damaging	Het
Usp42	A	G	5: 143,717,399	V489A	probably damaging	Het
Vars	A	G	17: 35,016,025	T1277A	unknown	Het
Vmn2r117	A	G	17: 23,478,476	S81P	probably damaging	Het
Vmn2r69	T	A	7: 85,412,296	I157F	probably benign	Het
Zfp697	A	G	3: 98,427,866	S316G	probably damaging	Het
Zfp729b	T	A	13: 67,591,668	H826L	probably 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
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
Z1177:Aldh16a1	UTSW	7	45145903	missense	probably null	1.00

Predicted Primers

PCR Primer
(F):5'- CCATAATGAGCGCATGGACG -3'
(R):5'- ATCAGTGACCAGGAGCATCG -3'

Sequencing Primer
(F):5'- AGCGCATGGACGGGTTG -3'
(R):5'- ACACAGCTTTGGTACCCG -3'

Posted On

2022-09-12