Mutagenetix > Incidental Mutation

Incidental Mutation 'R2336:Rdh16f1'

246555

Institutional Source

Beutler Lab

Gene Symbol

Rdh16f1

Ensembl Gene

ENSMUSG00000099009

Gene Name

RDH16 family member 1

Synonyms

Gm28046

MMRRC Submission

040323-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

R2336 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

127595656-127628563 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 127624624 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 154 (K154R)

Ref Sequence

ENSEMBL: ENSMUSP00000116574 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000052652] [ENSMUST00000128247]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000052652
AA Change: K154R

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000057732
Gene: ENSMUSG00000056148
AA Change: K154R

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
Pfam:adh_short	30	220	3.1e-41	PFAM
Pfam:DUF1776	43	303	5.7e-8	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128133

Predicted Effect

probably benign
Transcript: ENSMUST00000128247
AA Change: K154R

PolyPhen 2 Score 0.077 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000116574
Gene: ENSMUSG00000099009
AA Change: K154R

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
Pfam:adh_short	30	195	1.7e-23	PFAM
Pfam:DUF1776	43	303	3.3e-8	PFAM

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.2%

Validation Efficiency

100% (38/38)

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A430110L20Rik	T	A	1: 181,055,206 (GRCm39)		noncoding transcript	Het
Arhgap21	G	A	2: 20,884,862 (GRCm39)	R772C	probably damaging	Het
Arid2	A	G	15: 96,260,430 (GRCm39)	E393G	probably damaging	Het
Atrn	C	T	2: 130,799,874 (GRCm39)	T417I	probably damaging	Het
Baiap3	T	C	17: 25,469,378 (GRCm39)	K173R	probably damaging	Het
Bdp1	A	T	13: 100,189,510 (GRCm39)	N1497K	probably damaging	Het
Ceacam5	T	C	7: 17,481,300 (GRCm39)	V349A	probably benign	Het
Chrnd	T	C	1: 87,122,615 (GRCm39)	F132S	probably damaging	Het
Ddx42	A	G	11: 106,121,976 (GRCm39)	M164V	possibly damaging	Het
Dtwd2	A	G	18: 49,833,320 (GRCm39)		probably benign	Het
Eprs1	T	A	1: 185,143,571 (GRCm39)		probably benign	Het
Fut8	A	G	12: 77,459,730 (GRCm39)		probably benign	Het
Gabrr3	C	T	16: 59,250,313 (GRCm39)	T104M	probably damaging	Het
Gcat	G	A	15: 78,915,180 (GRCm39)	R16H	probably benign	Het
Gnb2	A	T	5: 137,527,460 (GRCm39)	W125R	probably damaging	Het
Grik4	C	T	9: 42,477,651 (GRCm39)	D512N	probably damaging	Het
Hnf4g	T	C	3: 3,706,284 (GRCm39)	F60L	probably benign	Het
Lrp6	A	G	6: 134,484,546 (GRCm39)	I359T	probably damaging	Het
Lrrfip2	A	G	9: 111,051,283 (GRCm39)	D325G	probably damaging	Het
Mttp	A	T	3: 137,821,856 (GRCm39)	I222K	possibly damaging	Het
Myom1	A	T	17: 71,330,189 (GRCm39)	H107L	possibly damaging	Het
Obi1	G	A	14: 104,716,318 (GRCm39)	P685L	probably damaging	Het
Or10al4	A	T	17: 38,037,689 (GRCm39)	Y258F	probably benign	Het
Or2r11	A	G	6: 42,437,663 (GRCm39)	C97R	probably damaging	Het
Ppfia3	T	C	7: 45,006,121 (GRCm39)		probably null	Het
Prokr2	A	T	2: 132,223,359 (GRCm39)	M61K	probably damaging	Het
Ptk2	A	G	15: 73,137,965 (GRCm39)	C502R	probably damaging	Het
Rbm25	T	A	12: 83,698,192 (GRCm39)	W172R	probably damaging	Het
Rnf213	G	A	11: 119,305,430 (GRCm39)	E554K	probably benign	Het
St3gal6	A	T	16: 58,314,067 (GRCm39)	I22K	probably damaging	Het
Tut7	G	T	13: 59,946,868 (GRCm39)	P585Q	probably damaging	Het
Usp43	G	A	11: 67,782,258 (GRCm39)	R387*	probably null	Het
Vmn2r106	T	C	17: 20,488,470 (GRCm39)	N643S	probably benign	Het
Zdbf2	G	T	1: 63,342,623 (GRCm39)	R334L	probably benign	Het
Zfp868	G	T	8: 70,066,558 (GRCm39)		probably null	Het

Other mutations in Rdh16f1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01369:Rdh16f1	APN	10	127,595,844 (GRCm39)	missense	probably benign	0.00
R0445:Rdh16f1	UTSW	10	127,626,736 (GRCm39)	missense	probably benign	0.18
R1623:Rdh16f1	UTSW	10	127,626,722 (GRCm39)	missense	probably benign	0.00
R3808:Rdh16f1	UTSW	10	127,624,569 (GRCm39)	missense	probably damaging	1.00
R3808:Rdh16f1	UTSW	10	127,624,568 (GRCm39)	missense	probably benign	0.03
R4544:Rdh16f1	UTSW	10	127,626,706 (GRCm39)	missense	probably benign	0.13
R4745:Rdh16f1	UTSW	10	127,626,685 (GRCm39)	missense	probably benign	0.03
R5005:Rdh16f1	UTSW	10	127,624,546 (GRCm39)	missense	probably benign	0.14
R5832:Rdh16f1	UTSW	10	127,624,618 (GRCm39)	missense	probably damaging	0.99
R6923:Rdh16f1	UTSW	10	127,624,737 (GRCm39)	critical splice donor site	probably null
R6927:Rdh16f1	UTSW	10	127,624,561 (GRCm39)	missense	probably benign	0.28
R7008:Rdh16f1	UTSW	10	127,626,775 (GRCm39)	missense	probably benign	0.06
R8458:Rdh16f1	UTSW	10	127,624,714 (GRCm39)	missense	probably damaging	1.00
Z1088:Rdh16f1	UTSW	10	127,624,702 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAGCCTGTGTTGTGTGACTCTC -3'
(R):5'- TGGCCAGTGAATGATTCAGGG -3'

Sequencing Primer
(F):5'- GTTGTGTGACTCTCTCCTTCCACTG -3'
(R):5'- CTCCTTCCGATGATGTGACTTAAAG -3'

Posted On

2014-10-30