Mutagenetix > Incidental Mutation

Incidental Mutation 'R0610:Sdr16c5'

54596

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

038799-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.073) question?

Stock #

R0610 (G1)

Quality Score

193

Status

Validated

Chromosome

Chromosomal Location

3995936-4019663 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 4016116 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 103 (E103D)

Ref Sequence

ENSEMBL: ENSMUSP00000046298 (fasta)

Gene Model

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

AlphaFold

Q7TQA3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000040925
AA Change: E103D

PolyPhen 2 Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000046298
Gene: ENSMUSG00000028236
AA Change: E103D

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

Meta Mutation Damage Score

0.0845

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.4%
20x: 94.7%

Validation Efficiency

99% (97/98)

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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930433I11Rik	A	T	7: 40,993,056	T141S	probably benign	Het
4930578I06Rik	G	A	14: 63,986,265	R21*	probably null	Het
9530003J23Rik	A	G	10: 117,237,730	F66S	probably benign	Het
Abca15	A	G	7: 120,365,786	E757G	possibly damaging	Het
Abca5	T	C	11: 110,301,527	T720A	probably benign	Het
Actr5	T	A	2: 158,632,456		probably null	Het
Adgrl3	T	C	5: 81,693,716		probably benign	Het
Adra1a	A	G	14: 66,637,792	D72G	probably damaging	Het
Ahnak	G	T	19: 9,007,878	L2175F	probably benign	Het
AK157302	A	G	13: 21,495,663	T120A	possibly damaging	Het
Apol7a	G	A	15: 77,389,254	A336V	probably benign	Het
Asic1	C	A	15: 99,698,899	H525Q	probably benign	Het
Atxn7l2	T	C	3: 108,204,774	D335G	possibly damaging	Het
Bpgm	G	T	6: 34,504,349	R227L	possibly damaging	Het
Calm4	T	A	13: 3,838,320	V142E	possibly damaging	Het
Catsperg1	A	T	7: 29,190,619	L721Q	probably damaging	Het
Cdh26	A	G	2: 178,449,898	I83M	probably damaging	Het
Cep295	A	C	9: 15,322,754	S2249A	possibly damaging	Het
Cln3	A	G	7: 126,580,189	F139L	probably damaging	Het
Cmpk2	T	A	12: 26,478,056	L424Q	possibly damaging	Het
Col12a1	A	T	9: 79,707,848	V53E	probably benign	Het
Csmd1	G	A	8: 15,918,208	R3140C	possibly damaging	Het
Dagla	A	G	19: 10,271,558	W11R	probably damaging	Het
Dbx2	C	T	15: 95,624,897	V310M	probably benign	Het
Disp2	T	A	2: 118,792,236	C1150S	probably benign	Het
Dock3	T	C	9: 107,023,788	D326G	probably damaging	Het
Dph1	G	T	11: 75,185,957		probably benign	Het
Dyrk1b	C	A	7: 28,186,634	T594K	probably damaging	Het
Evx2	C	A	2: 74,655,987	A353S	probably benign	Het
Fam71f1	T	A	6: 29,326,577	V231E	probably benign	Het
Gm4737	T	C	16: 46,153,901	E371G	probably damaging	Het
Gm4788	G	A	1: 139,701,846	T799I	probably benign	Het
Greb1	A	C	12: 16,696,442	S1276A	probably benign	Het
Hhipl1	T	A	12: 108,319,402	C490*	probably null	Het
Hmmr	G	T	11: 40,715,902	T231K	probably damaging	Het
Hspa4l	A	C	3: 40,779,400	E526D	probably benign	Het
Ibsp	A	G	5: 104,310,134	E179G	probably benign	Het
Ift140	C	T	17: 25,035,803	A150V	probably benign	Het
Igf2bp2	A	G	16: 22,070,309	S416P	probably benign	Het
Ighe	T	C	12: 113,271,743	K294E	unknown	Het
Ino80	G	A	2: 119,382,960	R1249C	probably damaging	Het
Iqca	C	A	1: 90,142,731	G133V	probably null	Het
Kng2	T	A	16: 23,000,594	N231Y	possibly damaging	Het
Lca5	A	T	9: 83,399,739	C331S	probably benign	Het
Lrrc1	A	G	9: 77,472,206	I101T	possibly damaging	Het
Lrrk2	A	T	15: 91,815,416	I2489L	probably benign	Het
Mapk9	A	C	11: 49,863,573	N51T	probably benign	Het
Marf1	C	T	16: 14,142,534	A549T	probably damaging	Het
Nek2	T	A	1: 191,822,515	V113D	probably damaging	Het
Nr4a3	C	A	4: 48,051,903	A248E	probably benign	Het
Nrp1	T	C	8: 128,502,618	I859T	probably damaging	Het
Olfm5	A	T	7: 104,154,445	Y195*	probably null	Het
Olfr354	T	A	2: 36,907,659	W238R	probably damaging	Het
Olfr71	T	A	4: 43,706,400	H56L	possibly damaging	Het
Olfr955	A	G	9: 39,469,823	L301P	probably damaging	Het
Oxtr	C	T	6: 112,477,177	R42Q	probably benign	Het
Pcnx2	A	G	8: 125,839,687	W1006R	probably damaging	Het
Pdpk1	T	C	17: 24,098,171		probably null	Het
Ryr2	T	A	13: 11,622,952	H3731L	probably damaging	Het
Setdb2	A	C	14: 59,417,470	S324A	possibly damaging	Het
Slc17a3	C	T	13: 23,855,858	S293F	probably damaging	Het
Slc17a8	A	T	10: 89,576,626	I499K	probably damaging	Het
Slc2a9	T	A	5: 38,379,942	I389F	probably damaging	Het
Slc30a1	T	C	1: 191,909,424	V394A	probably damaging	Het
Slc41a2	A	G	10: 83,283,728	I390T	possibly damaging	Het
Slco1a1	A	G	6: 141,918,461		probably null	Het
Slit2	A	G	5: 48,275,674	K1053E	possibly damaging	Het
Smarca2	T	A	19: 26,691,391	L930Q	probably damaging	Het
Snx6	T	C	12: 54,751,789	H387R	probably damaging	Het
Sox5	A	T	6: 143,833,439	M622K	possibly damaging	Het
Ston1	C	A	17: 88,635,281	N38K	possibly damaging	Het
Strbp	C	T	2: 37,584,077	V658I	probably damaging	Het
Strn3	T	C	12: 51,610,448		probably null	Het
Suco	T	G	1: 161,859,503	D96A	probably benign	Het
Suco	A	G	1: 161,864,032		probably benign	Het
Sytl2	A	T	7: 90,380,853		probably benign	Het
Tmem41b	T	A	7: 109,981,083	M25L	probably benign	Het
Tmem41b	T	A	7: 109,981,085	D91V	probably damaging	Het
Tmem50b	C	T	16: 91,583,286	A68T	probably damaging	Het
Tmprss11e	G	A	5: 86,707,347	Q400*	probably null	Het
Tnfsf13b	G	A	8: 10,031,661		probably null	Het
Trappc8	A	G	18: 20,837,188	V916A	probably damaging	Het
Trdn	G	T	10: 33,474,453	V673F	probably damaging	Het
Trim28	G	T	7: 13,025,784		probably benign	Het
Txnrd2	T	C	16: 18,472,882	V427A	probably damaging	Het
Uggt1	T	C	1: 36,165,506		probably benign	Het
Vmn1r36	A	G	6: 66,716,420	L51P	probably damaging	Het
Vmn1r63	T	A	7: 5,803,064	M190L	possibly damaging	Het
Vmn2r116	T	A	17: 23,387,312	N399K	probably damaging	Het
Vmn2r117	T	C	17: 23,475,514	N453S	probably benign	Het
Wbp1l	T	A	19: 46,654,670	I370N	probably damaging	Het
Zfp445	T	C	9: 122,852,981	K632E	probably benign	Het
Zfp850	C	T	7: 27,989,394	R463H	probably damaging	Het
Zyg11a	A	G	4: 108,204,857	L249P	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
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
R5395:Sdr16c5	UTSW	4	4016277	missense	probably benign	0.12
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
R9722:Sdr16c5	UTSW	4	4005595	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- ACTGGTACAGTTAGCATAGGGTGGC -3'
(R):5'- TCATAACAGGTGCTGGGAGTGGAC -3'

Sequencing Primer
(F):5'- TATAGGCCCACACAGATTCACTG -3'
(R):5'- ACTAGGAAGGCTCTTAGCATTGC -3'

Posted On

2013-07-11