Mutagenetix > Incidental Mutation

Incidental Mutation 'R8444:Aldh16a1'

654377

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 #

R8444 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

45140684-45154584 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 45149691 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 56 (P56S)

Ref Sequence

ENSEMBL: ENSMUSP00000148069 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000085375] [ENSMUST00000107815] [ENSMUST00000209847] [ENSMUST00000209954] [ENSMUST00000209957] [ENSMUST00000209963] [ENSMUST00000210125] [ENSMUST00000210139] [ENSMUST00000211362] [ENSMUST00000211709]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000085375

SMART Domains

Protein: ENSMUSP00000082490
Gene: ENSMUSG00000003423

Domain	Start	End	E-Value	Type
Pfam:PIH1	23	207	1.8e-50	PFAM
Pfam:PIH1	211	285	2.3e-17	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000107815
AA Change: P56S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000103445
Gene: ENSMUSG00000007833
AA Change: P56S

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: ENSMUST00000209847

Predicted Effect

probably benign
Transcript: ENSMUST00000209954

Predicted Effect

probably benign
Transcript: ENSMUST00000209957

Predicted Effect

probably benign
Transcript: ENSMUST00000209963
AA Change: P56S

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

Predicted Effect

probably benign
Transcript: ENSMUST00000210125

Predicted Effect

probably benign
Transcript: ENSMUST00000210139

Predicted Effect

probably benign
Transcript: ENSMUST00000211362

Predicted Effect

probably benign
Transcript: ENSMUST00000211709

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610010K14Rik	G	T	11: 70,236,929	R56S	possibly damaging	Het
1700013F07Rik	A	G	3: 108,544,068	H115R	probably benign	Het
Abca14	T	A	7: 120,318,910	I1545K	probably damaging	Het
Abca3	A	G	17: 24,383,985	Y518C	probably damaging	Het
Abcd2	A	G	15: 91,174,636	V535A	probably benign	Het
Adcy9	T	C	16: 4,288,623	T1113A	probably damaging	Het
Afdn	A	T	17: 13,883,800	N1133Y	probably benign	Het
Aip	T	A	19: 4,116,034	D139V	probably damaging	Het
Akap13	G	A	7: 75,730,465	R462H	probably damaging	Het
Alpk3	A	C	7: 81,057,720	T31P	probably benign	Het
Aoc3	G	T	11: 101,341,747	R466S	unknown	Het
Atoh1	T	C	6: 64,729,657	L112P	probably benign	Het
Atp2b2	T	A	6: 113,793,811	N424I	probably benign	Het
Brms1	T	C	19: 5,041,492		probably null	Het
Casc3	C	T	11: 98,822,781	R280C	probably damaging	Het
Cd34	T	A	1: 194,958,500	S224R	probably benign	Het
Cdh20	T	A	1: 104,970,858	F437I	probably benign	Het
Cdkal1	A	T	13: 29,326,104	V557E	probably benign	Het
Chst5	T	C	8: 111,890,763	H75R	probably damaging	Het
Col5a2	A	T	1: 45,396,145	N713K	probably benign	Het
Cpne5	A	T	17: 29,188,383	M181K	probably benign	Het
Cpt1a	T	C	19: 3,381,981	F731S	probably benign	Het
Cyfip1	A	G	7: 55,872,154	M69V	possibly damaging	Het
Dennd3	A	G	15: 73,570,823	K1232E	probably benign	Het
Dennd4b	A	T	3: 90,273,952	H805L	probably benign	Het
Dnm1l	C	T	16: 16,341,042	R108Q	probably damaging	Het
Dsc1	T	A	18: 20,089,579	D612V	probably benign	Het
Ephb2	C	T	4: 136,661,400	G628R	probably damaging	Het
Esrrb	G	A	12: 86,505,821	R195H	probably benign	Het
Flg2	A	T	3: 93,200,278	E23D	probably damaging	Het
Gja8	A	G	3: 96,919,674	L224P	probably damaging	Het
Hps6	T	G	19: 46,005,428	S601R	possibly damaging	Het
Ice1	T	C	13: 70,604,376	E1197G	probably damaging	Het
Ifnar2	C	A	16: 91,403,969	A366D	possibly damaging	Het
Ighm	A	C	12: 113,421,193	S347A		Het
Immt	C	T	6: 71,871,508	R494*	probably null	Het
Irs2	A	G	8: 11,006,683	V583A	probably damaging	Het
Kcnk4	T	C	19: 6,926,140	E347G	probably damaging	Het
Kif5b	T	A	18: 6,213,245	I716F	probably benign	Het
Klhl1	T	A	14: 96,517,890	D143V	probably benign	Het
Lrp1b	T	C	2: 40,870,260	T2999A		Het
Map3k9	A	G	12: 81,722,196	L1026P	probably damaging	Het
Mtg1	T	C	7: 140,138,370	V54A	probably damaging	Het
Mx1	G	T	16: 97,451,487	C231*	probably null	Het
Olfr1129	G	A	2: 87,575,739	M218I	probably benign	Het
Olfr478	C	A	7: 108,031,863	W160L	probably benign	Het
Olfr507	A	G	7: 108,621,820	I3V	probably benign	Het
Olfr680-ps1	A	G	7: 105,090,958	V227A	probably damaging	Het
Olfr808	T	A	10: 129,767,925	V143E	probably damaging	Het
Otogl	T	A	10: 107,857,114	E836D	probably benign	Het
Pde6d	A	G	1: 86,543,528	S143P	probably damaging	Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398		probably benign	Het
Pon1	C	T	6: 5,177,327	W194*	probably null	Het
Rbm25	T	A	12: 83,664,251	S379R	unknown	Het
Rnf111	A	T	9: 70,457,941	S415T	probably benign	Het
Shoc2	A	G	19: 53,988,072	Y131C	probably damaging	Het
Slc17a2	A	T	13: 23,819,078	H237L	probably benign	Het
Slc23a1	T	A	18: 35,624,436	M261L	possibly damaging	Het
Slc35d1	G	C	4: 103,214,699	I35M		Het
Slc8b1	C	T	5: 120,513,138		probably benign	Het
Smr3a	A	C	5: 88,004,752	L8F	unknown	Het
Snx8	G	A	5: 140,358,174	R96C	possibly damaging	Het
Srgap3	A	G	6: 112,775,548	V325A	possibly damaging	Het
Stk40	A	G	4: 126,118,334	T10A	probably benign	Het
Tmem177	A	T	1: 119,910,220	V243D	probably benign	Het
Trim6	G	A	7: 104,232,672	V403M	probably damaging	Het
Ttc25	G	T	11: 100,561,905		probably null	Het
Tysnd1	A	G	10: 61,696,171	R201G	probably benign	Het
Vmn2r67	A	T	7: 85,136,646	F717Y	probably benign	Het
Vmn2r72	A	G	7: 85,738,175	V727A	probably benign	Het
Wdr49	A	C	3: 75,451,690	D43E	probably benign	Het
Zbtb8b	A	G	4: 129,432,631	V247A	probably benign	Het
Zfp532	C	A	18: 65,624,259	A421E	possibly 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
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'- TCAGGAGAAATGGGAGCTCC -3'
(R):5'- GAGCACTGAGTTCAAACCCCAG -3'

Sequencing Primer
(F):5'- GGAGCTCCCATCCCCAC -3'
(R):5'- AGAAGGATGAACTGACGGC -3'

Posted On

2020-10-20