Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00780:Rdh16f2'

9244

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rdh16f2

Ensembl Gene

ENSMUSG00000074639

Gene Name

RDH16 family member 2

Synonyms

BC089597

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00780

Quality Score

Status

Chromosome

Chromosomal Location

127702345-127713188 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 127710961 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000089691 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000092058]

AlphaFold

Q8K3M1

Predicted Effect

probably null
Transcript: ENSMUST00000092058

SMART Domains

Protein: ENSMUSP00000089691
Gene: ENSMUSG00000074639

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
Pfam:adh_short	30	221	4.8e-44	PFAM
Pfam:KR	31	206	4e-7	PFAM
Pfam:DUF1776	43	304	6.8e-10	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi3bp	A	G	16: 56,423,168 (GRCm39)	D440G	probably null	Het
Acvrl1	T	A	15: 101,035,248 (GRCm39)	F258Y	probably damaging	Het
Ano1	A	G	7: 144,209,367 (GRCm39)	S278P	probably damaging	Het
Aoc1l3	A	G	6: 48,964,673 (GRCm39)	D227G	probably damaging	Het
AW146154	T	C	7: 41,129,883 (GRCm39)	Y411C	probably damaging	Het
Blnk	T	A	19: 40,922,890 (GRCm39)	K412M	probably benign	Het
Clpb	C	T	7: 101,427,815 (GRCm39)	R387*	probably null	Het
Dach1	A	T	14: 98,138,858 (GRCm39)	N528K	possibly damaging	Het
Dag1	A	T	9: 108,086,818 (GRCm39)	W108R	probably damaging	Het
Elapor2	A	G	5: 9,472,367 (GRCm39)	T355A	probably damaging	Het
Fbn2	T	C	18: 58,229,060 (GRCm39)	T717A	probably damaging	Het
Fnbp1l	T	C	3: 122,342,898 (GRCm39)	D394G	possibly damaging	Het
Gaa	T	A	11: 119,165,117 (GRCm39)		probably null	Het
Gpr158	A	T	2: 21,831,629 (GRCm39)	K910*	probably null	Het
Grb14	G	A	2: 64,745,062 (GRCm39)	P99S	probably damaging	Het
Gtf2h2	T	C	13: 100,615,729 (GRCm39)	D264G	probably benign	Het
Heatr3	A	G	8: 88,897,568 (GRCm39)	I667V	probably benign	Het
Hsp90ab1	T	C	17: 45,880,490 (GRCm39)	N407S	probably damaging	Het
Htr2a	A	T	14: 74,943,645 (GRCm39)	L408F	possibly damaging	Het
Itgb5	G	A	16: 33,705,345 (GRCm39)	V212I	probably damaging	Het
Kmt2c	G	A	5: 25,516,049 (GRCm39)	T2598I	probably benign	Het
Lcorl	T	C	5: 45,904,637 (GRCm39)	N137S	probably damaging	Het
Lef1	T	C	3: 130,986,779 (GRCm39)	F212L	possibly damaging	Het
Map2k5	T	C	9: 63,188,359 (GRCm39)		probably benign	Het
Med15	G	A	16: 17,471,351 (GRCm39)	T642I	probably damaging	Het
Nasp	C	A	4: 116,461,196 (GRCm39)	E274*	probably null	Het
Nup210l	A	T	3: 90,098,156 (GRCm39)		probably benign	Het
Pgghg	T	C	7: 140,525,264 (GRCm39)		probably null	Het
Plpp1	A	G	13: 112,988,040 (GRCm39)	I54M	probably damaging	Het
Poldip3	C	T	15: 83,022,680 (GRCm39)	G35R	probably damaging	Het
Ppig	A	T	2: 69,563,268 (GRCm39)	E81D	possibly damaging	Het
Ptpn21	G	T	12: 98,646,630 (GRCm39)	T999K	probably damaging	Het
Rad9b	T	C	5: 122,482,310 (GRCm39)	I142V	probably benign	Het
Ralgps1	A	T	2: 33,163,639 (GRCm39)	H139Q	probably damaging	Het
Sema3d	G	A	5: 12,574,293 (GRCm39)	R265Q	probably damaging	Het
Tdp1	T	C	12: 99,859,907 (GRCm39)	V198A	possibly damaging	Het
Trim43c	A	T	9: 88,723,909 (GRCm39)	D145V	probably benign	Het
Trpc4	C	T	3: 54,209,596 (GRCm39)	P654S	probably damaging	Het
Yy1	T	G	12: 108,781,463 (GRCm39)	I376S	probably damaging	Het
Zfp773	T	A	7: 7,136,113 (GRCm39)	Q161L	probably benign	Het

Other mutations in Rdh16f2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00432:Rdh16f2	APN	10	127,702,533 (GRCm39)	missense	probably damaging	1.00
R1448:Rdh16f2	UTSW	10	127,712,794 (GRCm39)	missense	probably benign
R1757:Rdh16f2	UTSW	10	127,712,765 (GRCm39)	missense	probably benign	0.01
R2245:Rdh16f2	UTSW	10	127,712,145 (GRCm39)	missense	probably damaging	1.00
R2484:Rdh16f2	UTSW	10	127,710,946 (GRCm39)	missense	probably damaging	1.00
R3613:Rdh16f2	UTSW	10	127,710,808 (GRCm39)	missense	probably benign	0.38
R4828:Rdh16f2	UTSW	10	127,710,823 (GRCm39)	missense	probably benign	0.09
R5109:Rdh16f2	UTSW	10	127,702,672 (GRCm39)	missense	probably damaging	1.00
R5153:Rdh16f2	UTSW	10	127,712,124 (GRCm39)	missense	possibly damaging	0.96
R5420:Rdh16f2	UTSW	10	127,712,943 (GRCm39)	missense	possibly damaging	0.94
R5448:Rdh16f2	UTSW	10	127,712,932 (GRCm39)	missense	probably benign	0.03
R5492:Rdh16f2	UTSW	10	127,702,623 (GRCm39)	nonsense	probably null
R5769:Rdh16f2	UTSW	10	127,712,758 (GRCm39)	missense	probably benign	0.01
R5863:Rdh16f2	UTSW	10	127,712,256 (GRCm39)	missense	probably benign
R6003:Rdh16f2	UTSW	10	127,712,201 (GRCm39)	missense	probably benign	0.02
R6063:Rdh16f2	UTSW	10	127,712,743 (GRCm39)	missense	probably benign	0.01
R7365:Rdh16f2	UTSW	10	127,712,893 (GRCm39)	missense	probably damaging	0.98
R7446:Rdh16f2	UTSW	10	127,712,767 (GRCm39)	missense	probably benign
R8305:Rdh16f2	UTSW	10	127,712,864 (GRCm39)	missense	probably damaging	1.00
R8911:Rdh16f2	UTSW	10	127,712,812 (GRCm39)	missense	probably damaging	1.00
R9357:Rdh16f2	UTSW	10	127,712,915 (GRCm39)	missense	possibly damaging	0.62
X0023:Rdh16f2	UTSW	10	127,702,675 (GRCm39)	missense	probably damaging	1.00

Posted On

2012-12-06