Mutagenetix > Incidental Mutation

Incidental Mutation 'R5024:Sdr16c5'

391205

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

042615-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.186) question?

Stock #

R5024 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

3995936-4019663 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 4010365 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Serine at position 170 (G170S)

Ref Sequence

ENSEMBL: ENSMUSP00000046298 (fasta)

Gene Model

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

AlphaFold

Q7TQA3

Predicted Effect

probably damaging
Transcript: ENSMUST00000040925
AA Change: G170S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000046298
Gene: ENSMUSG00000028236
AA Change: G170S

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

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.6%
20x: 93.4%

Validation Efficiency

99% (95/96)

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrd1	A	G	5: 129,171,895	N575S	probably damaging	Het
Akap6	C	T	12: 53,142,562	T2253M	probably benign	Het
Arhgef37	A	C	18: 61,506,440	N289K	probably damaging	Het
Armc4	T	C	18: 7,088,555	M1005V	probably benign	Het
Atad2b	A	C	12: 4,937,534	T121P	probably benign	Het
Atp4a	A	C	7: 30,715,864	D303A	possibly damaging	Het
BC005561	A	G	5: 104,522,258	K1549E	possibly damaging	Het
Calu	A	T	6: 29,374,519		probably benign	Het
Ccdc141	A	C	2: 77,054,703	N531K	probably benign	Het
Ccdc146	T	C	5: 21,399,614		probably null	Het
Cd207	G	A	6: 83,674,319	T218I	probably damaging	Het
Cd2ap	A	C	17: 42,805,345		probably null	Het
Clip3	G	A	7: 30,292,219		probably benign	Het
Clstn1	G	A	4: 149,635,294	R432H	possibly damaging	Het
Csmd2	A	G	4: 128,321,348	Y521C	possibly damaging	Het
Dnah8	A	T	17: 30,736,096	E2033V	probably damaging	Het
Eng	T	G	2: 32,673,392	V319G	probably benign	Het
Erp44	C	T	4: 48,241,296	W57*	probably null	Het
Etv1	T	A	12: 38,854,234		probably null	Het
Eva1c	T	C	16: 90,876,193		probably null	Het
Fam196a	A	G	7: 134,918,478	S108P	probably damaging	Het
Fam221b	T	A	4: 43,659,674	N482I	probably damaging	Het
Fam83h	T	C	15: 76,005,142	H202R	probably damaging	Het
Fbxw13	T	C	9: 109,179,335	T449A	probably benign	Het
Fbxw25	A	T	9: 109,663,374		probably null	Het
Frmd3	T	A	4: 74,098,144	S99T	probably benign	Het
Gm5155	A	G	7: 17,910,682	I575V	probably benign	Het
Gm5174	G	T	10: 86,656,587		noncoding transcript	Het
Gm6904	T	C	14: 59,258,483		probably null	Het
Gm815	C	T	19: 26,887,775	Q49*	probably null	Het
H2-DMa	A	T	17: 34,138,487	I245F	possibly damaging	Het
Herc1	A	T	9: 66,470,326	K3458M	possibly damaging	Het
Hirip3	A	G	7: 126,864,489		probably null	Het
Hjurp	A	T	1: 88,275,050	Y71N	possibly damaging	Het
Hmcn1	T	A	1: 150,680,688	E2449V	possibly damaging	Het
Igll1	G	T	16: 16,863,793	H33N	probably benign	Het
Il6	T	C	5: 30,019,514	L184P	probably damaging	Het
Impg2	T	A	16: 56,260,100	S756T	probably damaging	Het
Kank4	T	G	4: 98,785,661	D5A	probably damaging	Het
Kcna7	G	A	7: 45,406,591	R77H	probably damaging	Het
Kcns2	A	T	15: 34,839,537	T349S	probably benign	Het
Keap1	A	G	9: 21,237,226	Y162H	probably damaging	Het
Kif9	T	C	9: 110,483,093	F10L	possibly damaging	Het
Klhdc8b	ACACGCACGCACGCACGCACGCACGCACGCACGCACGCAC	ACACGCACGCACGCACGCACGCACGCACGCACGCACGCACGCAC	9: 108,448,985		probably benign	Het
Klk14	G	A	7: 43,692,077	C51Y	probably damaging	Het
Lpar6	A	G	14: 73,239,369	T257A	probably damaging	Het
Lpin1	A	T	12: 16,554,006	L608Q	probably benign	Het
Lyst	T	C	13: 13,634,404	S220P	probably benign	Het
M1ap	A	G	6: 83,028,358		probably benign	Het
Mbd6	C	T	10: 127,286,441	V173I	probably benign	Het
Myo5b	A	T	18: 74,716,034	T1115S	possibly damaging	Het
Mysm1	C	A	4: 94,951,016	V683F	possibly damaging	Het
Nlrp4g	T	A	9: 124,350,155		noncoding transcript	Het
Olfr1040	G	T	2: 86,146,533	A67E	probably damaging	Het
Olfr1062	C	T	2: 86,423,461	G72S	possibly damaging	Het
Olfr292	A	T	7: 86,694,881	M142L	probably benign	Het
Olfr318	T	A	11: 58,720,950	I33F	probably benign	Het
Otud6b	T	A	4: 14,826,293	Q34L	probably damaging	Het
Parp11	C	T	6: 127,471,636	T72I	probably damaging	Het
Pbx1	T	A	1: 168,183,589	D343V	possibly damaging	Het
Ppp1r12b	G	T	1: 134,955,733	A17E	probably benign	Het
Pramef20	C	A	4: 144,373,308	E296*	probably null	Het
Ranbp9	A	T	13: 43,434,855	I67N	probably damaging	Het
Rasgrp4	A	G	7: 29,148,407	E414G	probably damaging	Het
Rbbp5	A	G	1: 132,490,488	H15R	possibly damaging	Het
Scd2	A	G	19: 44,301,271	Y235C	probably benign	Het
Sh3bp4	G	T	1: 89,145,595	G722C	probably damaging	Het
Shmt1	A	T	11: 60,797,479		probably benign	Het
Slc12a1	A	G	2: 125,166,137	I206V	probably benign	Het
Slc26a3	A	G	12: 31,453,908	D304G	probably benign	Het
Slc26a7	T	A	4: 14,532,572	D434V	possibly damaging	Het
Slc6a16	G	T	7: 45,259,966	M185I	probably benign	Het
Stat4	A	G	1: 52,082,570	I363V	possibly damaging	Het
Tgfb1i1	G	T	7: 128,248,217	M1I	probably null	Het
Tmem225	T	C	9: 40,149,343	V66A	probably benign	Het
Tmtc4	T	C	14: 122,941,302		probably null	Het
Trpc4	T	A	3: 54,194,796	N38K	probably benign	Het
Ttll12	A	T	15: 83,587,113	Y218N	probably damaging	Het
Ttn	A	T	2: 76,948,425		probably null	Het
Tulp1	A	C	17: 28,351,995	Y178*	probably null	Het
Vmn2r58	A	G	7: 41,864,322	V299A	probably damaging	Het
Washc4	C	A	10: 83,583,336	Q911K	possibly damaging	Het
Wdr3	T	C	3: 100,154,936	D221G	probably benign	Het
Zan	A	T	5: 137,461,893	C1245*	probably null	Het
Zfyve9	A	C	4: 108,691,669	S773A	probably benign	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
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'- CTGTAGAAGTGCATGATCAACAATC -3'
(R):5'- GAGTGTTGCAACTAAGATTTTCCTG -3'

Sequencing Primer
(F):5'- TGCTTACAATGCCAGCACTTAGG -3'
(R):5'- GCAACTAAGATTTTCCTGTACCAC -3'

Posted On

2016-06-06