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

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00780

Quality Score

Status

Chromosome

Chromosomal Location

127866474-127877317 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 127875092 bp (GRCm38)

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
9330182L06Rik	A	G	5: 9,422,367	T355A	probably damaging	Het
Abi3bp	A	G	16: 56,602,805	D440G	probably null	Het
Acvrl1	T	A	15: 101,137,367	F258Y	probably damaging	Het
Ano1	A	G	7: 144,655,630	S278P	probably damaging	Het
AW146154	T	C	7: 41,480,459	Y411C	probably damaging	Het
Blnk	T	A	19: 40,934,446	K412M	probably benign	Het
Clpb	C	T	7: 101,778,608	R387*	probably null	Het
Dach1	A	T	14: 97,901,422	N528K	possibly damaging	Het
Dag1	A	T	9: 108,209,619	W108R	probably damaging	Het
Fbn2	T	C	18: 58,095,988	T717A	probably damaging	Het
Fnbp1l	T	C	3: 122,549,249	D394G	possibly damaging	Het
Gaa	T	A	11: 119,274,291		probably null	Het
Gpr158	A	T	2: 21,826,818	K910*	probably null	Het
Grb14	G	A	2: 64,914,718	P99S	probably damaging	Het
Gtf2h2	T	C	13: 100,479,221	D264G	probably benign	Het
Heatr3	A	G	8: 88,170,940	I667V	probably benign	Het
Hsp90ab1	T	C	17: 45,569,564	N407S	probably damaging	Het
Htr2a	A	T	14: 74,706,205	L408F	possibly damaging	Het
Itgb5	G	A	16: 33,884,975	V212I	probably damaging	Het
Kmt2c	G	A	5: 25,311,051	T2598I	probably benign	Het
Lcorl	T	C	5: 45,747,295	N137S	probably damaging	Het
Lef1	T	C	3: 131,193,130	F212L	possibly damaging	Het
Map2k5	T	C	9: 63,281,077		probably benign	Het
Med15	G	A	16: 17,653,487	T642I	probably damaging	Het
Nasp	C	A	4: 116,603,999	E274*	probably null	Het
Nup210l	A	T	3: 90,190,849		probably benign	Het
Pgghg	T	C	7: 140,945,351		probably null	Het
Plpp1	A	G	13: 112,851,506	I54M	probably damaging	Het
Poldip3	C	T	15: 83,138,479	G35R	probably damaging	Het
Ppig	A	T	2: 69,732,924	E81D	possibly damaging	Het
Ptpn21	G	T	12: 98,680,371	T999K	probably damaging	Het
Rad9b	T	C	5: 122,344,247	I142V	probably benign	Het
Ralgps1	A	T	2: 33,273,627	H139Q	probably damaging	Het
Sema3d	G	A	5: 12,524,326	R265Q	probably damaging	Het
Svs1	A	G	6: 48,987,739	D227G	probably damaging	Het
Tdp1	T	C	12: 99,893,648	V198A	possibly damaging	Het
Trim43c	A	T	9: 88,841,856	D145V	probably benign	Het
Trpc4	C	T	3: 54,302,175	P654S	probably damaging	Het
Yy1	T	G	12: 108,815,537	I376S	probably damaging	Het
Zfp773	T	A	7: 7,133,114	Q161L	probably benign	Het

Other mutations in Rdh16f2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00432:Rdh16f2	APN	10	127866664	missense	probably damaging	1.00
R1448:Rdh16f2	UTSW	10	127876925	missense	probably benign
R1757:Rdh16f2	UTSW	10	127876896	missense	probably benign	0.01
R2245:Rdh16f2	UTSW	10	127876276	missense	probably damaging	1.00
R2484:Rdh16f2	UTSW	10	127875077	missense	probably damaging	1.00
R3613:Rdh16f2	UTSW	10	127874939	missense	probably benign	0.38
R4828:Rdh16f2	UTSW	10	127874954	missense	probably benign	0.09
R5109:Rdh16f2	UTSW	10	127866803	missense	probably damaging	1.00
R5153:Rdh16f2	UTSW	10	127876255	missense	possibly damaging	0.96
R5420:Rdh16f2	UTSW	10	127877074	missense	possibly damaging	0.94
R5448:Rdh16f2	UTSW	10	127877063	missense	probably benign	0.03
R5492:Rdh16f2	UTSW	10	127866754	nonsense	probably null
R5769:Rdh16f2	UTSW	10	127876889	missense	probably benign	0.01
R5863:Rdh16f2	UTSW	10	127876387	missense	probably benign
R6003:Rdh16f2	UTSW	10	127876332	missense	probably benign	0.02
R6063:Rdh16f2	UTSW	10	127876874	missense	probably benign	0.01
R7365:Rdh16f2	UTSW	10	127877024	missense	probably damaging	0.98
R7446:Rdh16f2	UTSW	10	127876898	missense	probably benign
R8911:Rdh16f2	UTSW	10	127876943	missense	probably damaging	1.00
R9357:Rdh16f2	UTSW	10	127877046	missense	possibly damaging	0.62
X0023:Rdh16f2	UTSW	10	127866806	missense	probably damaging	1.00

Posted On

2012-12-06