Mutagenetix > Incidental Mutation

Incidental Mutation 'R0242:Aldh16a1'

66248

Institutional Source

Beutler Lab

Gene Symbol

Aldh16a1

Ensembl Gene

ENSMUSG00000007833

Gene Name

aldehyde dehydrogenase 16 family, member A1

Synonyms

2410004H02Rik

MMRRC Submission

038480-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0242 (G1)

Quality Score

122

Status

Not validated

Chromosome

Chromosomal Location

44791257-44804008 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 44794088 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 596 (A596V)

Ref Sequence

ENSEMBL: ENSMUSP00000148069 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000007977
AA Change: A596V

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000007977
Gene: ENSMUSG00000007833
AA Change: A596V

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: A596V

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000103445
Gene: ENSMUSG00000007833
AA Change: A596V

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: A596V

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

Predicted Effect

unknown
Transcript: ENSMUST00000211169
AA Change: A9V

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210352

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210539

Predicted Effect

probably benign
Transcript: ENSMUST00000211362

Predicted Effect

probably benign
Transcript: ENSMUST00000210125

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210725

Meta Mutation Damage Score

0.6874

Coding Region Coverage

1x: 98.7%
3x: 97.2%
10x: 90.8%
20x: 69.4%

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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700029H14Rik	T	C	8: 13,601,676 (GRCm39)	D230G	probably benign	Het
Abhd13	A	G	8: 10,037,561 (GRCm39)	I53V	probably benign	Het
Adgrl2	A	C	3: 148,544,821 (GRCm39)		probably null	Het
Aldh3b2	T	A	19: 4,029,414 (GRCm39)	Y262*	probably null	Het
Ambn	A	G	5: 88,615,831 (GRCm39)	Q420R	possibly damaging	Het
Arhgap9	C	A	10: 127,165,407 (GRCm39)	H430Q	probably benign	Het
Arhgef25	C	T	10: 127,019,933 (GRCm39)	G435E	probably damaging	Het
Armc12	A	T	17: 28,751,366 (GRCm39)	D120V	possibly damaging	Het
Asxl3	G	A	18: 22,649,738 (GRCm39)	E576K	possibly damaging	Het
Bcdin3d	T	C	15: 99,368,776 (GRCm39)	E141G	probably benign	Het
Bmpr1b	G	A	3: 141,546,437 (GRCm39)	T483M	probably damaging	Het
Caprin2	C	T	6: 148,744,452 (GRCm39)	S991N	probably damaging	Het
Cd96	T	C	16: 45,892,129 (GRCm39)	I286M	possibly damaging	Het
Cdcp1	G	T	9: 123,009,237 (GRCm39)	F480L	probably benign	Het
Celf5	T	C	10: 81,300,243 (GRCm39)	T258A	probably benign	Het
Clca3b	A	G	3: 144,547,226 (GRCm39)	S304P	probably benign	Het
Cmya5	A	T	13: 93,232,108 (GRCm39)	H993Q	probably benign	Het
Cnbp	A	T	6: 87,822,746 (GRCm39)	C6S	probably damaging	Het
Col14a1	C	T	15: 55,360,907 (GRCm39)	R1605W	probably damaging	Het
Cops7a	T	C	6: 124,941,817 (GRCm39)	N11S	probably benign	Het
Cpvl	T	C	6: 53,909,485 (GRCm39)	H217R	possibly damaging	Het
Cyp2c66	A	G	19: 39,130,369 (GRCm39)	Y68C	probably damaging	Het
Dicer1	G	A	12: 104,668,710 (GRCm39)	T1324M	probably benign	Het
Dlgap2	A	G	8: 14,777,562 (GRCm39)	D268G	probably benign	Het
Dnm1	T	A	2: 32,207,001 (GRCm39)	M535L	possibly damaging	Het
Dock7	A	T	4: 98,850,517 (GRCm39)	F1575Y	probably benign	Het
Dpp10	T	A	1: 123,326,275 (GRCm39)	H403L	possibly damaging	Het
Dync1h1	A	G	12: 110,616,285 (GRCm39)	D3112G	possibly damaging	Het
Eno3	A	G	11: 70,548,761 (GRCm39)	E21G	probably null	Het
Fam120b	T	A	17: 15,643,186 (GRCm39)	V655D	probably damaging	Het
Fkbp5	A	T	17: 28,647,426 (GRCm39)	D136E	probably benign	Het
Gfer	A	G	17: 24,913,277 (GRCm39)	W192R	probably damaging	Het
Golgb1	C	T	16: 36,695,992 (GRCm39)	Q164*	probably null	Het
Gpnmb	A	G	6: 49,024,276 (GRCm39)	N197S	probably damaging	Het
Gtf2f1	G	A	17: 57,310,802 (GRCm39)	T414M	probably benign	Het
Helz2	C	T	2: 180,872,223 (GRCm39)	R2539Q	probably damaging	Het
Hsd17b12	T	A	2: 93,988,160 (GRCm39)	I19F	probably benign	Het
Incenp	T	C	19: 9,871,114 (GRCm39)	T172A	unknown	Het
Jmy	A	G	13: 93,578,126 (GRCm39)	Y681H	probably benign	Het
Kbtbd11	A	G	8: 15,077,508 (GRCm39)	T36A	probably benign	Het
Kcnh4	T	C	11: 100,646,525 (GRCm39)	D267G	probably damaging	Het
Krt40	T	A	11: 99,429,568 (GRCm39)	E335D	probably damaging	Het
Krt86	T	A	15: 101,374,454 (GRCm39)	Y282*	probably null	Het
Lgi3	C	T	14: 70,772,255 (GRCm39)	R267*	probably null	Het
Lrp1b	T	A	2: 40,888,195 (GRCm39)	H2355L	probably benign	Het
Lrrc8e	G	A	8: 4,285,401 (GRCm39)	R542H	probably benign	Het
Mast4	G	A	13: 102,990,350 (GRCm39)	S57F	probably damaging	Het
Mia2	T	C	12: 59,155,642 (GRCm39)	Y452H	probably damaging	Het
Mmachc	C	T	4: 116,561,738 (GRCm39)	R132Q	probably damaging	Het
Mroh2a	C	A	1: 88,170,142 (GRCm39)	A685D	possibly damaging	Het
Mtbp	T	A	15: 55,440,882 (GRCm39)	N356K	possibly damaging	Het
Myo5b	A	G	18: 74,794,787 (GRCm39)	H552R	possibly damaging	Het
Niban1	A	G	1: 151,593,967 (GRCm39)	D884G	probably benign	Het
Noxred1	A	G	12: 87,273,753 (GRCm39)	V96A	probably benign	Het
Nr1d2	T	A	14: 18,211,933 (GRCm38)	D390V	possibly damaging	Het
Odad2	A	T	18: 7,211,516 (GRCm39)	V786D	probably damaging	Het
Or1r1	T	C	11: 73,874,538 (GRCm39)	S299G	probably benign	Het
Or6c1b	T	A	10: 129,273,217 (GRCm39)	Y179N	probably damaging	Het
Otog	G	T	7: 45,916,805 (GRCm39)	C914F	probably damaging	Het
Pank2	G	T	2: 131,122,117 (GRCm39)	C214F	probably damaging	Het
Pcdhb1	T	A	18: 37,399,788 (GRCm39)	S580T	probably benign	Het
Pdia3	T	C	2: 121,244,592 (GRCm39)	S2P	probably damaging	Het
Peli1	G	T	11: 21,092,602 (GRCm39)	R83L	probably damaging	Het
Pla2g3	T	A	11: 3,441,935 (GRCm39)	C366*	probably null	Het
Pon3	T	A	6: 5,240,860 (GRCm39)	D107V	probably benign	Het
Ppip5k2	A	G	1: 97,668,816 (GRCm39)	C532R	probably damaging	Het
Psd3	A	G	8: 68,210,738 (GRCm39)	M270T	probably damaging	Het
Pus1	A	T	5: 110,927,664 (GRCm39)	H30Q	probably benign	Het
Pwwp3a	T	C	10: 80,070,092 (GRCm39)	S354P	probably benign	Het
Rab7	A	T	6: 87,982,114 (GRCm39)	V87E	probably damaging	Het
Reln	A	G	5: 22,147,595 (GRCm39)		probably null	Het
S1pr3	A	G	13: 51,572,938 (GRCm39)	T40A	probably benign	Het
Senp7	T	A	16: 55,999,884 (GRCm39)	I853N	probably damaging	Het
Sfi1	CCTCTC	CCTCTCTC	11: 3,127,419 (GRCm39)		probably benign	Het
Shroom1	T	G	11: 53,356,312 (GRCm39)		probably null	Het
Slc24a3	T	C	2: 145,448,584 (GRCm39)	I376T	probably benign	Het
Slc46a1	T	C	11: 78,359,493 (GRCm39)	I375T	possibly damaging	Het
Slc4a9	T	C	18: 36,666,733 (GRCm39)	F527S	probably damaging	Het
Slc4a9	T	A	18: 36,674,286 (GRCm39)	I924N	probably damaging	Het
Slx4	T	A	16: 3,804,816 (GRCm39)	E666V	probably damaging	Het
Sorcs1	C	T	19: 50,216,659 (GRCm39)	G640E	probably damaging	Het
Spmap2l	G	T	5: 77,164,152 (GRCm39)	E52*	probably null	Het
Sptan1	A	T	2: 29,908,413 (GRCm39)	M1725L	probably benign	Het
Sync	G	A	4: 129,187,514 (GRCm39)	R182K	probably damaging	Het
Syne2	G	A	12: 76,144,808 (GRCm39)	G1586S	probably damaging	Het
Sytl1	G	T	4: 132,980,768 (GRCm39)	T522K	probably damaging	Het
Tex2	T	A	11: 106,410,781 (GRCm39)	K414*	probably null	Het
Thsd7a	G	A	6: 12,503,915 (GRCm39)	T413I	probably benign	Het
Tm9sf1	C	T	14: 55,875,392 (GRCm39)	A451T	possibly damaging	Het
Ttn	A	T	2: 76,656,496 (GRCm39)		probably benign	Het
Uba2	T	C	7: 33,854,054 (GRCm39)	I140V	possibly damaging	Het
Ushbp1	C	A	8: 71,842,762 (GRCm39)	G361*	probably null	Het
Wbp2nl	C	T	15: 82,197,988 (GRCm39)	A175V	probably benign	Het
Zc3h12d	A	G	10: 7,738,330 (GRCm39)	E212G	probably damaging	Het

Other mutations in Aldh16a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01394:Aldh16a1	APN	7	44,794,937 (GRCm39)	missense	probably benign	0.00
IGL01449:Aldh16a1	APN	7	44,791,391 (GRCm39)	missense	probably damaging	0.99
IGL01599:Aldh16a1	APN	7	44,791,517 (GRCm39)	missense	probably damaging	0.99
IGL02118:Aldh16a1	APN	7	44,795,459 (GRCm39)	missense	probably damaging	1.00
IGL02120:Aldh16a1	APN	7	44,795,459 (GRCm39)	missense	probably damaging	1.00
IGL02123:Aldh16a1	APN	7	44,795,459 (GRCm39)	missense	probably damaging	1.00
IGL02125:Aldh16a1	APN	7	44,795,459 (GRCm39)	missense	probably damaging	1.00
IGL02126:Aldh16a1	APN	7	44,795,459 (GRCm39)	missense	probably damaging	1.00
IGL02794:Aldh16a1	APN	7	44,795,018 (GRCm39)	missense	probably damaging	0.98
IGL03348:Aldh16a1	APN	7	44,791,399 (GRCm39)	missense	possibly damaging	0.85
G1Funyon:Aldh16a1	UTSW	7	44,791,406 (GRCm39)	missense	possibly damaging	0.80
R0242:Aldh16a1	UTSW	7	44,794,088 (GRCm39)	missense	probably damaging	1.00
R0305:Aldh16a1	UTSW	7	44,797,403 (GRCm39)	missense	probably damaging	1.00
R0532:Aldh16a1	UTSW	7	44,792,262 (GRCm39)	missense	probably damaging	1.00
R0550:Aldh16a1	UTSW	7	44,795,653 (GRCm39)	splice site	probably null
R0707:Aldh16a1	UTSW	7	44,793,931 (GRCm39)	unclassified	probably benign
R0801:Aldh16a1	UTSW	7	44,796,900 (GRCm39)	missense	probably benign	0.00
R1224:Aldh16a1	UTSW	7	44,791,471 (GRCm39)	splice site	probably null
R1371:Aldh16a1	UTSW	7	44,796,674 (GRCm39)	missense	possibly damaging	0.78
R1778:Aldh16a1	UTSW	7	44,796,732 (GRCm39)	missense	probably damaging	1.00
R2064:Aldh16a1	UTSW	7	44,796,585 (GRCm39)	critical splice donor site	probably null
R4616:Aldh16a1	UTSW	7	44,798,212 (GRCm39)	intron	probably benign
R4859:Aldh16a1	UTSW	7	44,796,731 (GRCm39)	missense	probably benign	0.10
R4928:Aldh16a1	UTSW	7	44,791,385 (GRCm39)	missense	probably damaging	1.00
R5476:Aldh16a1	UTSW	7	44,791,493 (GRCm39)	missense	possibly damaging	0.89
R5591:Aldh16a1	UTSW	7	44,794,076 (GRCm39)	missense	probably null	0.82
R5647:Aldh16a1	UTSW	7	44,803,889 (GRCm39)	missense	probably benign	0.00
R5692:Aldh16a1	UTSW	7	44,797,223 (GRCm39)	missense	probably damaging	1.00
R5698:Aldh16a1	UTSW	7	44,803,831 (GRCm39)	unclassified	probably benign
R5879:Aldh16a1	UTSW	7	44,796,930 (GRCm39)	nonsense	probably null
R5890:Aldh16a1	UTSW	7	44,793,969 (GRCm39)	missense	probably benign	0.00
R6321:Aldh16a1	UTSW	7	44,799,189 (GRCm39)	missense	probably damaging	1.00
R6338:Aldh16a1	UTSW	7	44,791,385 (GRCm39)	missense	probably damaging	1.00
R6373:Aldh16a1	UTSW	7	44,795,695 (GRCm39)	missense	probably benign	0.00
R6497:Aldh16a1	UTSW	7	44,794,361 (GRCm39)	missense	possibly damaging	0.93
R6566:Aldh16a1	UTSW	7	44,792,651 (GRCm39)	missense	probably benign	0.22
R7248:Aldh16a1	UTSW	7	44,795,018 (GRCm39)	missense	probably damaging	0.98
R7303:Aldh16a1	UTSW	7	44,797,328 (GRCm39)	missense	probably damaging	1.00
R7467:Aldh16a1	UTSW	7	44,795,331 (GRCm39)	missense	probably benign	0.03
R7636:Aldh16a1	UTSW	7	44,796,955 (GRCm39)	missense	unknown
R7830:Aldh16a1	UTSW	7	44,795,649 (GRCm39)	missense	probably damaging	0.98
R8301:Aldh16a1	UTSW	7	44,791,406 (GRCm39)	missense	possibly damaging	0.80
R8444:Aldh16a1	UTSW	7	44,799,115 (GRCm39)	missense	probably benign	0.00
R8801:Aldh16a1	UTSW	7	44,791,438 (GRCm39)	missense	probably benign
R9011:Aldh16a1	UTSW	7	44,794,951 (GRCm39)	missense	probably damaging	0.98
R9187:Aldh16a1	UTSW	7	44,791,441 (GRCm39)	missense	probably damaging	0.99
R9620:Aldh16a1	UTSW	7	44,797,413 (GRCm39)	nonsense	probably null
Z1177:Aldh16a1	UTSW	7	44,795,327 (GRCm39)	missense	probably null	1.00

Predicted Primers

Posted On

2013-08-19