Mutagenetix > Incidental Mutation

Incidental Mutation 'R5194:Sdr16c5'

399937

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

042770-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.097) question?

Stock #

R5194 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

3995942-4019663 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 4006663 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 210 (A210S)

Ref Sequence

ENSEMBL: ENSMUSP00000046298 (fasta)

Gene Model

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

AlphaFold

Q7TQA3

Predicted Effect

probably benign
Transcript: ENSMUST00000040925
AA Change: A210S

PolyPhen 2 Score 0.156 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000046298
Gene: ENSMUSG00000028236
AA Change: A210S

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.5%

Validation Efficiency

98% (59/60)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700122O11Rik	T	C	17: 48,348,059 (GRCm39)	N82D	probably benign	Het
Aadacl4fm2	A	G	4: 144,281,652 (GRCm39)	V380A	probably benign	Het
Acadm	C	T	3: 153,638,755 (GRCm39)	R206H	possibly damaging	Het
Acly	T	A	11: 100,414,372 (GRCm39)	Y18F	probably benign	Het
Acnat2	G	T	4: 49,380,452 (GRCm39)	Q291K	probably benign	Het
Agtpbp1	T	C	13: 59,648,453 (GRCm39)	I456V	probably benign	Het
Ankrd7	A	G	6: 18,868,076 (GRCm39)	N114S	possibly damaging	Het
Arfgef1	A	T	1: 10,275,132 (GRCm39)	L307I	probably benign	Het
Arhgef2	A	T	3: 88,542,956 (GRCm39)	I383F	probably damaging	Het
Cbs	C	T	17: 31,843,198 (GRCm39)		probably null	Het
Cep135	T	C	5: 76,763,624 (GRCm39)	V538A	probably benign	Het
Dennd5a	T	C	7: 109,532,936 (GRCm39)	E254G	probably damaging	Het
Drc7	T	C	8: 95,788,345 (GRCm39)	V236A	probably benign	Het
Dtna	C	T	18: 23,723,302 (GRCm39)	Q169*	probably null	Het
Egfem1	G	A	3: 29,411,345 (GRCm39)		probably null	Het
Eif2ak3	T	C	6: 70,835,462 (GRCm39)	S130P	possibly damaging	Het
Ewsr1	T	C	11: 5,032,355 (GRCm39)	N297S	unknown	Het
F13a1	T	G	13: 37,156,037 (GRCm39)	D192A	probably damaging	Het
Fam120a	A	G	13: 49,034,411 (GRCm39)	V1067A	probably benign	Het
Gm17490	T	C	2: 11,631,062 (GRCm39)	Y5C	unknown	Het
Gm57859	T	C	11: 113,579,654 (GRCm39)	S350P	possibly damaging	Het
Gm8587	C	T	12: 88,056,556 (GRCm39)		noncoding transcript	Het
H2-Ab1	C	T	17: 34,488,352 (GRCm39)		probably benign	Het
Hoxd12	T	C	2: 74,505,447 (GRCm39)	L6P	probably damaging	Het
Ifi204	C	T	1: 173,576,910 (GRCm39)	D564N	possibly damaging	Het
Irak2	T	C	6: 113,667,751 (GRCm39)	V444A	probably benign	Het
Lgr6	C	T	1: 134,921,748 (GRCm39)	A199T	probably damaging	Het
Lrba	A	C	3: 86,235,526 (GRCm39)	N877H	probably damaging	Het
Mylk3	T	C	8: 86,079,495 (GRCm39)	I388V	probably benign	Het
Myo9b	C	T	8: 71,801,733 (GRCm39)	A1286V	probably benign	Het
Myt1l	A	C	12: 29,861,647 (GRCm39)	D143A	unknown	Het
Ngfr	T	C	11: 95,471,808 (GRCm39)	N63S	probably benign	Het
Or2ag16	A	T	7: 106,352,426 (GRCm39)	H56Q	probably benign	Het
Or4c3	T	A	2: 89,851,870 (GRCm39)	Y180F	probably damaging	Het
Or51a7	A	G	7: 102,615,071 (GRCm39)	I255V	probably benign	Het
Or6c70	C	T	10: 129,709,967 (GRCm39)	V220I	probably benign	Het
Or6z6	A	G	7: 6,491,519 (GRCm39)	L118P	probably damaging	Het
P2rx7	T	C	5: 122,811,858 (GRCm39)	S390P	probably benign	Het
Pcdhga4	A	C	18: 37,820,794 (GRCm39)	Q781P	probably benign	Het
Phip	G	A	9: 82,790,915 (GRCm39)	S677F	probably benign	Het
Ptpdc1	C	A	13: 48,740,265 (GRCm39)	V389F	possibly damaging	Het
Rab2a	T	A	4: 8,604,381 (GRCm39)	I161N	probably benign	Het
Rnf113a2	T	A	12: 84,464,111 (GRCm39)	M1K	probably null	Het
Schip1	T	C	3: 68,402,205 (GRCm39)	V122A	probably benign	Het
Sh3bp1	A	G	15: 78,787,301 (GRCm39)	K83E	probably damaging	Het
Sipa1l2	T	C	8: 126,166,012 (GRCm39)	S1541G	possibly damaging	Het
Slc22a21	T	C	11: 53,870,673 (GRCm39)	Y4C	probably damaging	Het
Smco1	C	T	16: 32,092,592 (GRCm39)	H88Y	probably damaging	Het
Tll2	T	C	19: 41,084,336 (GRCm39)	D697G	probably damaging	Het
Trim34a	A	G	7: 103,910,200 (GRCm39)	N334S	possibly damaging	Het
Ubqln1	A	G	13: 58,346,847 (GRCm39)	I64T	probably benign	Het
Vstm2b	T	A	7: 40,551,912 (GRCm39)		probably null	Het
Wdr17	A	G	8: 55,140,639 (GRCm39)	F238L	probably damaging	Het
Wiz	T	C	17: 32,596,822 (GRCm39)		probably benign	Het
Zfp407	T	C	18: 84,579,434 (GRCm39)	S560G	probably benign	Het

Other mutations in Sdr16c5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00547:Sdr16c5	APN	4	4,012,320 (GRCm39)	splice site	probably benign
IGL02230:Sdr16c5	APN	4	4,016,354 (GRCm39)	missense	probably damaging	0.99
IGL03090:Sdr16c5	APN	4	4,006,575 (GRCm39)	splice site	probably benign
PIT4802001:Sdr16c5	UTSW	4	4,012,423 (GRCm39)	missense	probably damaging	1.00
R0377:Sdr16c5	UTSW	4	4,005,546 (GRCm39)	missense	probably benign	0.03
R0610:Sdr16c5	UTSW	4	4,016,116 (GRCm39)	missense	possibly damaging	0.81
R2012:Sdr16c5	UTSW	4	3,996,244 (GRCm39)	missense	probably benign
R3735:Sdr16c5	UTSW	4	4,005,614 (GRCm39)	missense	probably benign
R3839:Sdr16c5	UTSW	4	4,006,601 (GRCm39)	missense	probably damaging	0.96
R3896:Sdr16c5	UTSW	4	4,006,609 (GRCm39)	missense	probably damaging	1.00
R4824:Sdr16c5	UTSW	4	4,016,216 (GRCm39)	nonsense	probably null
R5024:Sdr16c5	UTSW	4	4,010,365 (GRCm39)	missense	probably damaging	1.00
R5395:Sdr16c5	UTSW	4	4,016,277 (GRCm39)	missense	probably benign	0.12
R6267:Sdr16c5	UTSW	4	4,016,162 (GRCm39)	missense	probably damaging	1.00
R6352:Sdr16c5	UTSW	4	4,016,421 (GRCm39)	missense	probably benign	0.00
R7076:Sdr16c5	UTSW	4	4,006,591 (GRCm39)	missense	probably damaging	0.99
R9147:Sdr16c5	UTSW	4	3,996,200 (GRCm39)	missense	probably benign
R9336:Sdr16c5	UTSW	4	4,016,108 (GRCm39)	missense	probably damaging	1.00
R9722:Sdr16c5	UTSW	4	4,005,595 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GTGTCAGGGACAGTTCTGAAAC -3'
(R):5'- CCAGTCAGACCTGAACACTTTAG -3'

Sequencing Primer
(F):5'- GGGACAGTTCTGAAACCACTTCTG -3'
(R):5'- AGTCAGACCTGAACACTTTAGCTCTC -3'

Posted On

2016-07-06