Mutagenetix > Incidental Mutations

Incidental Mutation 'R5395:Sdr16c5'

426105

Institutional Source

Beutler Lab

Gene Symbol

Sdr16c5

Ensembl Gene

ENSMUSG00000028236

Gene Name

short chain dehydrogenase/reductase family 16C, member 5

Synonyms

Rdhe2, Scdr9

MMRRC Submission

042967-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.095) question?

Stock #

R5395 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

3995936-4019663 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 4016277 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 50 (S50G)

Ref Sequence

ENSEMBL: ENSMUSP00000046298 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040925]

AlphaFold

Q7TQA3

Predicted Effect

probably benign
Transcript: ENSMUST00000040925
AA Change: S50G

PolyPhen 2 Score 0.117 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000046298
Gene: ENSMUSG00000028236
AA Change: S50G

Domain	Start	End	E-Value	Type
Pfam:KR	41	233	1.8e-17	PFAM
Pfam:adh_short	41	238	1.7e-48	PFAM
Pfam:adh_short_C2	47	228	1.3e-12	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126274

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the short-chain alcohol dehydrogenase/reductase superfamily of proteins and is involved in the oxidation of retinol to retinaldehyde. The encoded protein is associated with the endoplasmic reticulum and is predicted to contain three transmembrane helices, suggesting that it is an integral membrane protein. It recognizes all-trans-retinol and all-trans-retinaldehyde as substrates and exhibits a strong preference for NAD(+)/NADH as cofactors. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	A	G	3: 122,080,941	I268V	probably benign	Het
Actn1	T	A	12: 80,170,703	I782F	probably benign	Het
Adamdec1	A	C	14: 68,570,903	S333A	probably benign	Het
Agbl5	C	A	5: 30,890,338	T58N	probably damaging	Het
Apoo-ps	T	A	13: 107,414,493		noncoding transcript	Het
Arhgef10l	T	C	4: 140,570,290	N277S	probably benign	Het
Ascc2	A	G	11: 4,659,273	E241G	possibly damaging	Het
Atp13a4	A	T	16: 29,420,888	Y835*	probably null	Het
Atp13a4	A	G	16: 29,456,604	V354A	possibly damaging	Het
Bcas3	T	C	11: 85,825,249	S426P	probably damaging	Het
Birc3	T	C	9: 7,861,174	R48G	probably damaging	Het
Cacna2d4	T	C	6: 119,271,418	S397P	possibly damaging	Het
Ccng2	T	C	5: 93,269,398	M91T	possibly damaging	Het
Clk3	G	A	9: 57,753,339	T473M	probably damaging	Het
Cog2	T	A	8: 124,545,221	H491Q	probably benign	Het
Cyp4f40	C	T	17: 32,669,853	T202I	probably benign	Het
Dennd1a	A	T	2: 37,802,128	F181I	probably damaging	Het
Fcrl6	G	T	1: 172,598,720	A170D	possibly damaging	Het
Fev	T	C	1: 74,882,664		probably null	Het
Flnb	A	G	14: 7,883,881	N369S	probably benign	Het
Flt3	A	G	5: 147,354,823	F606L	probably damaging	Het
Gdf9	T	C	11: 53,433,797	V131A	probably benign	Het
Gdnf	T	A	15: 7,834,684	L192Q	probably damaging	Het
Gjc2	A	T	11: 59,177,489	C56S	possibly damaging	Het
Gli3	T	C	13: 15,714,950	F550L	probably damaging	Het
Gm1110	T	C	9: 26,889,632	E422G	probably benign	Het
Gm14325	G	A	2: 177,832,984	H102Y	possibly damaging	Het
Gnb2	A	G	5: 137,528,526	S334P	probably damaging	Het
Icam2	A	T	11: 106,382,473		probably null	Het
Inca1	C	T	11: 70,690,438		probably null	Het
Itgb8	A	C	12: 119,170,741	C530W	probably damaging	Het
Lrp1	T	C	10: 127,595,297	D332G	probably damaging	Het
Ly75	A	T	2: 60,365,111	N234K	probably benign	Het
Mcm5	G	A	8: 75,123,026	S542N	probably benign	Het
Mcm9	A	T	10: 53,538,692	N97K	possibly damaging	Het
Morc2a	G	A	11: 3,688,232	R986H	possibly damaging	Het
Neu2	T	A	1: 87,596,675		probably null	Het
Nfatc1	G	A	18: 80,636,020	P718S	possibly damaging	Het
Nol6	G	A	4: 41,118,392		probably benign	Het
Olfr1406	A	T	1: 173,183,680	Y251*	probably null	Het
Otogl	T	C	10: 107,817,138	N1118D	probably benign	Het
Pcdh15	T	A	10: 74,185,287	I111K	probably damaging	Het
Phkb	A	G	8: 86,017,468	D582G	probably damaging	Het
Piwil2	G	T	14: 70,395,397	N575K	probably benign	Het
Pou4f2	T	A	8: 78,435,072	I301F	probably damaging	Het
Prkd1	T	C	12: 50,391,432	N409S	probably damaging	Het
Ptpn21	T	G	12: 98,715,117	K86T	probably damaging	Het
Raly	T	A	2: 154,864,007		probably null	Het
Rangap1	A	G	15: 81,706,446	F482L	probably benign	Het
Rapgef1	T	A	2: 29,737,965	N1052K	probably damaging	Het
Rnf169	A	T	7: 99,935,160		probably null	Het
Sin3a	G	A	9: 57,105,673	R612H	probably damaging	Het
Six6	T	A	12: 72,941,701	L216*	probably null	Het
Slc20a1	A	T	2: 129,208,337	N472Y	probably damaging	Het
Slc35d1	C	T	4: 103,211,375		probably null	Het
Slc45a2	C	T	15: 11,027,785	T480I	probably damaging	Het
Slc7a8	C	A	14: 54,733,277	G306*	probably null	Het
Slc9a8	T	A	2: 167,467,722	F335L	probably damaging	Het
Smyd1	T	G	6: 71,219,390	K338T	possibly damaging	Het
Snd1	T	A	6: 28,526,184	V187E	probably damaging	Het
Spag9	T	G	11: 94,091,751		probably null	Het
Tnfsf9	C	A	17: 57,105,592	T54K	probably benign	Het
Trim24	T	G	6: 37,957,744	V798G	probably damaging	Het
Tyr	C	A	7: 87,472,490	A365S	probably damaging	Het
Usp43	T	A	11: 67,897,358		probably null	Het
Vmn2r55	T	C	7: 12,651,947	D702G	probably damaging	Het
Vmn2r72	A	G	7: 85,750,897	S315P	possibly damaging	Het
Wdr64	T	A	1: 175,755,598	F367I	probably damaging	Het
Zc3h7b	G	A	15: 81,772,501	R173K	possibly damaging	Het
Zfp493	T	A	13: 67,783,846	C21*	probably null	Het
Zfp825	T	C	13: 74,480,546	T284A	possibly damaging	Het
Zpbp2	T	A	11: 98,558,213	V275D	probably damaging	Het

Other mutations in Sdr16c5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00547:Sdr16c5	APN	4	4012320	splice site	probably benign
IGL02230:Sdr16c5	APN	4	4016354	missense	probably damaging	0.99
IGL03090:Sdr16c5	APN	4	4006575	splice site	probably benign
PIT4802001:Sdr16c5	UTSW	4	4012423	missense	probably damaging	1.00
R0377:Sdr16c5	UTSW	4	4005546	missense	probably benign	0.03
R0610:Sdr16c5	UTSW	4	4016116	missense	possibly damaging	0.81
R2012:Sdr16c5	UTSW	4	3996244	missense	probably benign
R3735:Sdr16c5	UTSW	4	4005614	missense	probably benign
R3839:Sdr16c5	UTSW	4	4006601	missense	probably damaging	0.96
R3896:Sdr16c5	UTSW	4	4006609	missense	probably damaging	1.00
R4824:Sdr16c5	UTSW	4	4016216	nonsense	probably null
R5024:Sdr16c5	UTSW	4	4010365	missense	probably damaging	1.00
R5194:Sdr16c5	UTSW	4	4006663	missense	probably benign	0.16
R6267:Sdr16c5	UTSW	4	4016162	missense	probably damaging	1.00
R6352:Sdr16c5	UTSW	4	4016421	missense	probably benign	0.00
R7076:Sdr16c5	UTSW	4	4006591	missense	probably damaging	0.99
R9147:Sdr16c5	UTSW	4	3996200	missense	probably benign
R9336:Sdr16c5	UTSW	4	4016108	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGAGACTCCCTCGATGTACCTG -3'
(R):5'- AGGGGAACTGACCAAACTCTC -3'

Sequencing Primer
(F):5'- GATGTACCTGGTCAGCCACTCTG -3'
(R):5'- GGGGAACTGACCAAACTCTCTCTTG -3'

Posted On

2016-08-04