Mutagenetix > Incidental Mutations

Incidental Mutation 'R3808:Rdh16f1'

275048

Institutional Source

Beutler Lab

Gene Symbol

Rdh16f1

Ensembl Gene

ENSMUSG00000099009

Gene Name

RDH16 family member 1

Synonyms

Gm28046

MMRRC Submission

040765-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.061) question?

Stock #

R3808 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

127759787-127792694 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 127788699 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 135 (D135E)

Ref Sequence

ENSEMBL: ENSMUSP00000116574 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000052652
AA Change: D135E

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000057732
Gene: ENSMUSG00000056148
AA Change: D135E

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: D135E

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000116574
Gene: ENSMUSG00000099009
AA Change: D135E

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

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.6%
20x: 95.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	G	T	12: 71,164,546	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,164,547	E685V	possibly damaging	Het
Aldh3a2	G	T	11: 61,258,797	L248M	probably damaging	Het
Als2	A	G	1: 59,170,450	S1458P	probably benign	Het
Arhgap5	A	G	12: 52,567,187	E192G	possibly damaging	Het
Atg2a	A	G	19: 6,252,816	K1019R	possibly damaging	Het
Atp2b1	A	G	10: 99,003,148	K613E	possibly damaging	Het
Carm1	T	C	9: 21,586,962	C421R	probably damaging	Het
Cdh17	A	T	4: 11,795,671	Y417F	probably damaging	Het
Cers1	A	G	8: 70,330,010	D10G	possibly damaging	Het
Clptm1l	A	C	13: 73,612,454	M319L	probably benign	Het
Cntnap3	A	G	13: 64,781,804	V527A	probably damaging	Het
Creb3l2	A	G	6: 37,355,690	S290P	probably damaging	Het
D3Ertd254e	T	G	3: 36,165,643		probably null	Het
Dock4	T	G	12: 40,672,810	V305G	probably damaging	Het
Dtl	A	C	1: 191,548,354	L356R	probably damaging	Het
Eftud2	A	T	11: 102,841,463		probably null	Het
Eif2b4	A	G	5: 31,191,168	S88P	possibly damaging	Het
Fat4	T	G	3: 38,982,438	V3413G	possibly damaging	Het
Fgfr2	T	C	7: 130,199,848	M218V	probably benign	Het
Grin2b	A	G	6: 135,923,271	L204P	probably damaging	Het
Kcnj12	A	G	11: 61,070,277	N467S	probably benign	Het
Klhdc3	T	A	17: 46,677,932	N111Y	possibly damaging	Het
Lin9	A	G	1: 180,659,111	I81V	probably null	Het
Lrp2	T	C	2: 69,501,548	D1621G	probably damaging	Het
Lrp4	T	A	2: 91,476,702	D389E	probably damaging	Het
Med15	C	T	16: 17,655,734		probably benign	Het
Nbea	T	C	3: 55,717,848	N2274S	probably benign	Het
Nr3c2	G	A	8: 76,908,714	G148D	probably damaging	Het
Olfr1217	G	T	2: 89,023,426	H192Q	probably benign	Het
Olfr127	T	C	17: 37,903,573	V9A	probably benign	Het
Olfr982	A	T	9: 40,074,309	M5L	probably benign	Het
Paxip1	A	G	5: 27,772,029		probably benign	Het
Pfas	T	C	11: 68,989,953		probably benign	Het
Plin3	C	A	17: 56,286,275	A96S	probably damaging	Het
Pnck	T	A	X: 73,656,944	I288F	probably damaging	Het
Ppp4c	C	T	7: 126,787,327	G166D	probably damaging	Het
Prss43	A	T	9: 110,827,772	R115S	probably damaging	Het
Rassf2	T	C	2: 131,998,260		probably null	Het
Rgs12	A	G	5: 35,032,354	E702G	probably damaging	Het
Rnf213	A	G	11: 119,479,558	K4728E	probably damaging	Het
Ros1	T	G	10: 52,120,848	T1243P	probably benign	Het
Sall1	G	A	8: 89,031,473	Q668*	probably null	Het
Sbf2	C	A	7: 110,489,280	*45L	probably null	Het
Serpina3j	A	T	12: 104,319,827	I414F	probably benign	Het
Sh2d3c	T	C	2: 32,746,096	Y159H	probably damaging	Het
Slamf1	A	G	1: 171,798,177	D307G	probably null	Het
Slc22a13	T	C	9: 119,196,077	T178A	probably benign	Het
Smchd1	A	T	17: 71,429,541	L588H	probably damaging	Het
Svs1	C	T	6: 48,987,994	P312L	possibly damaging	Het
Trim12a	G	A	7: 104,306,994	A113V	probably benign	Het
Vil1	T	C	1: 74,427,613	V654A	probably benign	Het
Vmn1r202	T	C	13: 22,501,900	T116A	possibly damaging	Het
Zfp607a	G	A	7: 27,879,401	R632H	probably benign	Het

Other mutations in Rdh16f1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01369:Rdh16f1	APN	10	127759975	missense	probably benign	0.00
R0445:Rdh16f1	UTSW	10	127790867	missense	probably benign	0.18
R1623:Rdh16f1	UTSW	10	127790853	missense	probably benign	0.00
R2336:Rdh16f1	UTSW	10	127788755	missense	probably benign	0.08
R3808:Rdh16f1	UTSW	10	127788700	missense	probably damaging	1.00
R4544:Rdh16f1	UTSW	10	127790837	missense	probably benign	0.13
R4745:Rdh16f1	UTSW	10	127790816	missense	probably benign	0.03
R5005:Rdh16f1	UTSW	10	127788677	missense	probably benign	0.14
R5832:Rdh16f1	UTSW	10	127788749	missense	probably damaging	0.99
R6923:Rdh16f1	UTSW	10	127788868	critical splice donor site	probably null
R6927:Rdh16f1	UTSW	10	127788692	missense	probably benign	0.28
R7008:Rdh16f1	UTSW	10	127790906	missense	probably benign	0.06
R8458:Rdh16f1	UTSW	10	127788845	missense	probably damaging	1.00
Z1088:Rdh16f1	UTSW	10	127788833	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGCCCTGTGGATACCATGTTC -3'
(R):5'- AGTACCTGAGGGAGTCTGAG -3'

Sequencing Primer
(F):5'- ACACATGTCACAGTGTGCTTAC -3'
(R):5'- GAGTCTGAGAAGGCCTCTACAC -3'

Posted On

2015-04-02