Mutagenetix > Incidental Mutation

Incidental Mutation 'R9187:Aldh16a1'

697440

Institutional Source

Beutler Lab

Gene Symbol

Aldh16a1

Ensembl Gene

ENSMUSG00000007833

Gene Name

aldehyde dehydrogenase 16 family, member A1

Synonyms

2410004H02Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9187 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

44791257-44804008 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 44791441 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 778 (E778G)

Ref Sequence

ENSEMBL: ENSMUSP00000148069 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
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 damaging
Transcript: ENSMUST00000209963
AA Change: E778G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

Predicted Effect

probably damaging
Transcript: ENSMUST00000211169
AA Change: E88G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

97% (70/72)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca5	A	G	11: 110,200,961 (GRCm39)		probably null	Het
Abcb1a	T	A	5: 8,765,016 (GRCm39)	C669S	probably benign	Het
Abcc3	A	G	11: 94,255,913 (GRCm39)	L524P	probably damaging	Het
Akap5	A	T	12: 76,376,745 (GRCm39)	K726*	probably null	Het
Ankle2	G	A	5: 110,400,610 (GRCm39)	V649M	possibly damaging	Het
Apon	A	G	10: 128,090,832 (GRCm39)	N170S	probably benign	Het
Baiap2l1	T	C	5: 144,217,764 (GRCm39)	Y274C	probably benign	Het
Bub1	A	T	2: 127,656,856 (GRCm39)	N425K	possibly damaging	Het
Camsap1	A	G	2: 25,820,028 (GRCm39)	C1487R	probably damaging	Het
Cd4	A	C	6: 124,844,651 (GRCm39)	V378G	probably damaging	Het
Cenpa	C	A	5: 30,824,380 (GRCm39)	P3Q	unknown	Het
Cfap44	T	C	16: 44,225,144 (GRCm39)		probably benign	Het
Cfap65	T	A	1: 74,956,517 (GRCm39)	M1021L	probably benign	Het
Ddx39a	G	T	8: 84,449,113 (GRCm39)	M300I	probably benign	Het
Dgkh	T	C	14: 78,832,601 (GRCm39)	R819G	probably damaging	Het
Dlc1	A	T	8: 37,405,786 (GRCm39)	M1K	probably null	Het
Dnah9	A	G	11: 65,895,972 (GRCm39)	W2468R	probably benign	Het
Ebag9	A	T	15: 44,503,706 (GRCm39)	K177I	probably damaging	Het
Ehbp1	T	C	11: 22,101,184 (GRCm39)	I249V	probably damaging	Het
Fam171b	T	C	2: 83,710,365 (GRCm39)	V679A	probably damaging	Het
Gabbr2	G	A	4: 46,674,533 (GRCm39)	T818I	probably damaging	Het
Gcn1	T	C	5: 115,752,177 (GRCm39)	S2098P	probably damaging	Het
Glb1	T	C	9: 114,302,991 (GRCm39)	I609T	probably damaging	Het
Gm5916	T	G	9: 36,032,020 (GRCm39)	H88P	probably benign	Het
Gon4l	T	C	3: 88,786,618 (GRCm39)	S586P	probably benign	Het
Gzmg	T	A	14: 56,394,714 (GRCm39)	T185S	probably benign	Het
Hipk3	T	A	2: 104,276,936 (GRCm39)	D381V	probably damaging	Het
Hnrnpul2	C	A	19: 8,808,319 (GRCm39)	N681K	probably benign	Het
Hpdl	C	A	4: 116,678,372 (GRCm39)	G30C	probably damaging	Het
Iws1	G	A	18: 32,213,213 (GRCm39)	E214K	possibly damaging	Het
Krt82	C	A	15: 101,450,260 (GRCm39)	V479L	probably benign	Het
Lama4	G	A	10: 38,924,124 (GRCm39)		probably null	Het
Lamc1	C	A	1: 153,097,434 (GRCm39)	E1537*	probably null	Het
Mab21l3	G	A	3: 101,730,594 (GRCm39)	T215M	probably benign	Het
Magi3	C	A	3: 103,923,073 (GRCm39)	V1215F	possibly damaging	Het
Mical2	T	A	7: 111,902,797 (GRCm39)	C89*	probably null	Het
Mitf	T	A	6: 97,994,835 (GRCm39)	V427D	probably benign	Het
Muc4	T	C	16: 32,589,102 (GRCm39)	V753A		Het
Myo16	G	A	8: 10,492,233 (GRCm39)	R725H	unknown	Het
Ncapg2	T	A	12: 116,402,287 (GRCm39)	D706E	probably damaging	Het
Ndst1	T	C	18: 60,824,268 (GRCm39)	D803G	probably benign	Het
Neb	A	T	2: 52,096,115 (GRCm39)	V5065D	probably damaging	Het
Npm3	G	A	19: 45,737,941 (GRCm39)	R19*	probably null	Het
Ntrk3	A	C	7: 77,896,966 (GRCm39)	N690K	possibly damaging	Het
Or7g32	T	C	9: 19,389,166 (GRCm39)	I127V	probably benign	Het
Or7g35	T	C	9: 19,495,950 (GRCm39)	I39T	probably benign	Het
Or8d4	C	A	9: 40,038,886 (GRCm39)	V124L	possibly damaging	Het
P3h2	G	A	16: 25,924,186 (GRCm39)	A83V	probably benign	Het
Pdia2	A	G	17: 26,415,910 (GRCm39)	S362P	probably damaging	Het
Pmp22	C	T	11: 63,025,268 (GRCm39)	H34Y	probably benign	Het
Pmp22	T	C	11: 63,025,317 (GRCm39)	V50A	probably benign	Het
Ppfia4	T	C	1: 134,255,006 (GRCm39)	D283G	probably damaging	Het
Pramel58	T	C	5: 94,831,755 (GRCm39)	V254A	probably benign	Het
Prss55	T	A	14: 64,314,531 (GRCm39)	Q213L	probably null	Het
Rgsl1	C	T	1: 153,669,613 (GRCm39)	E258K	possibly damaging	Het
Ripor2	T	C	13: 24,897,632 (GRCm39)	F777L	probably benign	Het
Rsf1	GGC	GGCGGCGGCCGC	7: 97,229,140 (GRCm39)		probably benign	Het
Sgce	G	A	6: 4,711,362 (GRCm39)	R173C	probably benign	Het
Sncaip	T	G	18: 53,040,011 (GRCm39)	M735R	probably benign	Het
Snrpd2	T	A	7: 18,886,505 (GRCm39)	I96N	probably damaging	Het
Spryd3	T	G	15: 102,039,110 (GRCm39)	D121A	probably damaging	Het
Srsf3-ps	A	G	11: 98,516,187 (GRCm39)	V62A	possibly damaging	Het
Sspo	T	C	6: 48,472,223 (GRCm39)	C149R	probably damaging	Het
Tbc1d10b	A	T	7: 126,807,105 (GRCm39)	M144K	probably benign	Het
Tbc1d31	T	A	15: 57,779,485 (GRCm39)	I66N	probably damaging	Het
Tssk1	A	G	16: 17,712,457 (GRCm39)	T81A	possibly damaging	Het
Ttc28	A	G	5: 111,249,902 (GRCm39)	Y284C	probably damaging	Het
Ttn	T	C	2: 76,573,755 (GRCm39)	T25713A	probably benign	Het
Vmn2r125	T	C	4: 156,703,554 (GRCm39)	W311R	probably damaging	Het
Vmn2r80	A	T	10: 79,030,438 (GRCm39)	T755S	probably benign	Het
Vmn2r98	T	C	17: 19,301,481 (GRCm39)	C828R	probably damaging	Het
Wwox	T	C	8: 115,438,978 (GRCm39)	F348S	probably damaging	Het
Zeb2	T	A	2: 45,000,040 (GRCm39)	R65W	possibly damaging	Het
Zfp712	T	A	13: 67,188,637 (GRCm39)	H630L	probably damaging	Het
Zfp764	G	T	7: 127,004,608 (GRCm39)	H174Q	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
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
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

PCR Primer
(F):5'- CTGGGCCACACATGAAGAAG -3'
(R):5'- TCTAGGGCTTTTACAGGTGTCC -3'

Sequencing Primer
(F):5'- TGAAGAAGCCACTGTTCCC -3'
(R):5'- ACAGGTGTCCGTTGCTAAG -3'

Posted On

2022-02-07