Mutagenetix > Incidental Mutation

Incidental Mutation 'R5492:Rdh16f2'

432133

Institutional Source

Beutler Lab

Gene Symbol

Rdh16f2

Ensembl Gene

ENSMUSG00000074639

Gene Name

RDH16 family member 2

Synonyms

BC089597

MMRRC Submission

043053-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5492 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

127702345-127713188 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 127702623 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Stop codon at position 67 (E67*)

Ref Sequence

ENSEMBL: ENSMUSP00000089691 (fasta)

Gene Model

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

AlphaFold

Q8K3M1

Predicted Effect

probably null
Transcript: ENSMUST00000092058
AA Change: E67*

SMART Domains

Protein: ENSMUSP00000089691
Gene: ENSMUSG00000074639
AA Change: E67*

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

1x: 98.2%
3x: 97.1%
10x: 94.5%
20x: 89.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A830018L16Rik	C	T	1: 11,615,431 (GRCm39)	R135C	probably damaging	Het
Abcd2	A	G	15: 91,073,176 (GRCm39)	Y328H	probably benign	Het
Abcg4	T	C	9: 44,189,355 (GRCm39)	T381A	probably benign	Het
Adamts12	A	G	15: 11,336,384 (GRCm39)	N1490D	probably benign	Het
Aldh18a1	C	T	19: 40,539,734 (GRCm39)	R747Q	probably damaging	Het
Armc8	G	T	9: 99,409,184 (GRCm39)	C169*	probably null	Het
Birc6	A	C	17: 74,977,369 (GRCm39)	N4388T	probably damaging	Het
Bsn	G	A	9: 107,989,714 (GRCm39)	P2013S	probably damaging	Het
Cdc16	A	G	8: 13,813,915 (GRCm39)		probably null	Het
Cmtr1	T	A	17: 29,909,316 (GRCm39)	F408L	probably damaging	Het
Col4a2	C	T	8: 11,488,608 (GRCm39)	R1104W	possibly damaging	Het
Drg2	A	C	11: 60,352,422 (GRCm39)	H208P	probably damaging	Het
Frem3	A	T	8: 81,339,306 (GRCm39)	D533V	probably damaging	Het
Gm9930	T	A	10: 9,410,337 (GRCm39)		noncoding transcript	Het
Haus5	A	G	7: 30,358,380 (GRCm39)	V305A	possibly damaging	Het
Hint3	C	A	10: 30,494,245 (GRCm39)	R30L	probably benign	Het
Hltf	T	A	3: 20,152,231 (GRCm39)		probably null	Het
Hmcn2	T	A	2: 31,310,318 (GRCm39)	L3304Q	probably benign	Het
Hspa2	A	G	12: 76,451,308 (GRCm39)	M1V	probably null	Het
Htr5b	T	C	1: 121,455,387 (GRCm39)	T178A	possibly damaging	Het
Ighv1-11	A	G	12: 114,576,084 (GRCm39)	S44P	probably damaging	Het
Larp1b	C	T	3: 40,924,334 (GRCm39)	R104W	probably damaging	Het
Map3k2	A	G	18: 32,361,189 (GRCm39)	T550A	probably damaging	Het
Map4	T	A	9: 109,881,450 (GRCm39)	S105T	possibly damaging	Het
Mgam	T	C	6: 40,733,297 (GRCm39)	C691R	probably damaging	Het
Mms19	A	G	19: 41,944,270 (GRCm39)	I310T	possibly damaging	Het
Myh2	A	C	11: 67,071,701 (GRCm39)	K506T	probably benign	Het
Ngdn	T	C	14: 55,260,509 (GRCm39)	V239A	probably benign	Het
Plin1	G	A	7: 79,375,460 (GRCm39)	R151*	probably null	Het
Rbpjl	GCC	GC	2: 164,256,330 (GRCm39)		probably null	Het
Slc25a36	A	C	9: 96,982,259 (GRCm39)	C25W	probably damaging	Het
Stk31	G	A	6: 49,375,177 (GRCm39)	A49T	probably damaging	Het
Tigar	T	A	6: 127,066,167 (GRCm39)	T124S	possibly damaging	Het
Tsn	A	G	1: 118,232,443 (GRCm39)	V144A	probably damaging	Het
Zfp703	C	T	8: 27,469,233 (GRCm39)	P299L	probably damaging	Het
Zfp943	T	A	17: 22,212,056 (GRCm39)	C381S	probably damaging	Het
Zfyve19	A	T	2: 119,039,595 (GRCm39)		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
IGL00780:Rdh16f2	APN	10	127,710,961 (GRCm39)	critical splice donor site	probably null
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
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

Predicted Primers

PCR Primer
(F):5'- CAAACCATGTGGCTCTACATG -3'
(R):5'- ACCACCAGGAATCCTTTGGG -3'

Sequencing Primer
(F):5'- CTCTACATGGTGGCGCTACTG -3'
(R):5'- TCCTTTGGGGACTACACAGG -3'

Posted On

2016-10-05