Mutagenetix > Incidental Mutation

Incidental Mutation 'R5682:Sds'

443099

Institutional Source

Beutler Lab

Gene Symbol

Sds

Ensembl Gene

ENSMUSG00000029597

Gene Name

serine dehydratase

Synonyms

SDH

MMRRC Submission

043318-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.196) question?

Stock #

R5682 (G1)

Quality Score

121

Status

Not validated

Chromosome

Chromosomal Location

120614612-120621997 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 120621784 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 309 (S309R)

Ref Sequence

ENSEMBL: ENSMUSP00000143838 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031597] [ENSMUST00000066540] [ENSMUST00000111898] [ENSMUST00000201684]

AlphaFold

Q8VBT2

Predicted Effect

probably benign
Transcript: ENSMUST00000031597

SMART Domains

Protein: ENSMUSP00000031597
Gene: ENSMUSG00000029598

Domain	Start	End	E-Value	Type
transmembrane domain	20	42	N/A	INTRINSIC
Pfam:Phospholip_B	62	591	2.9e-179	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000066540
AA Change: S309R

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000064849
Gene: ENSMUSG00000029597
AA Change: S309R

Domain	Start	End	E-Value	Type
Pfam:PALP	5	304	1.5e-76	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000111898

SMART Domains

Protein: ENSMUSP00000107529
Gene: ENSMUSG00000029597

Domain	Start	End	E-Value	Type
Pfam:PALP	5	101	2.8e-31	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124978

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128728

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131831

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151361

Predicted Effect

possibly damaging
Transcript: ENSMUST00000201684
AA Change: S309R

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000143838
Gene: ENSMUSG00000029597
AA Change: S309R

Domain	Start	End	E-Value	Type
Pfam:PALP	5	304	1.5e-76	PFAM

Coding Region Coverage

1x: 99.7%
3x: 99.0%
10x: 97.4%
20x: 95.3%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one of three enzymes that are involved in metabolizing serine and glycine. L-serine dehydratase converts L-serine to pyruvate and ammonia and requires pyridoxal phosphate as a cofactor. The encoded protein can also metabolize threonine to NH4+ and 2-ketobutyrate. The encoded protein is found predominantly in the liver. [provided by RefSeq, Jul 2008]
PHENOTYPE: Sds is the serine dehydratase structural gene. Albino region deletions profoundly affect development and expression of some gluconeogenic enzymes, including Sds. In these deletion mice, Sds is expressed normally on the constitutive level, but fails to develop hormone-inducible expression. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc3	A	T	11: 94,283,723 (GRCm39)	S7T	probably benign	Het
Acot4	G	A	12: 84,085,576 (GRCm39)	V98M	probably damaging	Het
Acsm2	A	T	7: 119,162,774 (GRCm39)	N41I	probably benign	Het
Adamtsl3	A	T	7: 82,255,758 (GRCm39)	N1590I	probably damaging	Het
Ank3	G	A	10: 69,729,347 (GRCm39)	G714R	probably damaging	Het
Armh4	T	C	14: 49,989,043 (GRCm39)	D642G	probably damaging	Het
Ash1l	G	A	3: 88,914,914 (GRCm39)	R1848Q	probably damaging	Het
Atp1a4	A	T	1: 172,081,730 (GRCm39)	Y141N	probably damaging	Het
Atxn3	A	T	12: 101,924,406 (GRCm39)	I1N	probably damaging	Het
Avil	A	C	10: 126,849,973 (GRCm39)	Q608P	probably damaging	Het
Axin1	T	C	17: 26,406,775 (GRCm39)	V456A	probably benign	Het
Cacna1g	A	G	11: 94,349,940 (GRCm39)	L635P	probably damaging	Het
Card11	G	A	5: 140,888,666 (GRCm39)	Q231*	probably null	Het
Ccdc162	G	A	10: 41,432,799 (GRCm39)	R500*	probably null	Het
Cdh24	T	C	14: 54,874,805 (GRCm39)	D400G	probably damaging	Het
Cep112	T	C	11: 108,361,138 (GRCm39)	L164P	probably damaging	Het
Corin	A	G	5: 72,579,497 (GRCm39)	S224P	possibly damaging	Het
Csgalnact2	T	C	6: 118,097,953 (GRCm39)	Y371C	probably damaging	Het
Cspg4	A	T	9: 56,793,480 (GRCm39)	E405V	probably benign	Het
Ctnna3	T	A	10: 64,709,085 (GRCm39)	M708K	probably damaging	Het
Cyp7a1	T	A	4: 6,268,429 (GRCm39)	Y432F	probably benign	Het
Dcaf11	T	A	14: 55,800,883 (GRCm39)	V113E	probably damaging	Het
Dhx29	T	C	13: 113,067,383 (GRCm39)	I88T	probably damaging	Het
Dnhd1	G	A	7: 105,352,416 (GRCm39)	R2523Q	probably damaging	Het
Elmo2	A	G	2: 165,139,330 (GRCm39)	F406L	probably damaging	Het
Eps15l1	G	A	8: 73,125,592 (GRCm39)	Q648*	probably null	Het
Fam171a1	G	A	2: 3,227,126 (GRCm39)	R753Q	probably damaging	Het
Figla	T	A	6: 85,995,604 (GRCm39)	V86E	probably damaging	Het
Galnt7	C	A	8: 58,036,967 (GRCm39)	E141*	probably null	Het
Garnl3	A	G	2: 32,944,185 (GRCm39)	Y125H	probably damaging	Het
Gnb5	A	G	9: 75,234,523 (GRCm39)	D74G	probably damaging	Het
Grk1	A	T	8: 13,464,351 (GRCm39)	I408F	possibly damaging	Het
Has1	A	T	17: 18,064,425 (GRCm39)	W405R	possibly damaging	Het
Hdac5	A	G	11: 102,104,749 (GRCm39)		probably benign	Het
Helq	T	A	5: 100,933,170 (GRCm39)	M555L	probably benign	Het
Hipk2	T	C	6: 38,714,408 (GRCm39)	N556S	possibly damaging	Het
Htr7	C	A	19: 35,947,271 (GRCm39)	A248S	probably damaging	Het
Ing3	T	C	6: 21,968,949 (GRCm39)	S144P	probably damaging	Het
Itgb1	G	A	8: 129,453,549 (GRCm39)		probably null	Het
Kcnh4	A	T	11: 100,640,628 (GRCm39)	M466K	possibly damaging	Het
Krit1	T	A	5: 3,880,737 (GRCm39)	N565K	probably damaging	Het
Limk1	A	C	5: 134,694,059 (GRCm39)		probably null	Het
Lrif1	T	C	3: 106,639,884 (GRCm39)	I323T	possibly damaging	Het
Macf1	T	C	4: 123,328,552 (GRCm39)	E1811G	probably damaging	Het
Mctp2	A	C	7: 71,895,207 (GRCm39)		probably null	Het
Mmp21	A	G	7: 133,276,358 (GRCm39)	I495T	probably benign	Het
Mpz	A	T	1: 170,986,463 (GRCm39)	T126S	possibly damaging	Het
Napsa	A	G	7: 44,234,768 (GRCm39)	Y301C	possibly damaging	Het
Ncbp1	T	A	4: 46,170,474 (GRCm39)		probably benign	Het
Nup160	A	G	2: 90,510,155 (GRCm39)	E47G	probably benign	Het
Or8b56	A	G	9: 38,739,424 (GRCm39)	I146V	probably benign	Het
Pcdha11	A	G	18: 37,144,502 (GRCm39)	K198E	probably damaging	Het
Pcdha3	A	G	18: 37,081,040 (GRCm39)	D594G	probably damaging	Het
Pdcd5	G	A	7: 35,346,613 (GRCm39)		probably benign	Het
Pdhx	A	T	2: 102,865,685 (GRCm39)	S166T	probably benign	Het
Pigc	A	G	1: 161,798,516 (GRCm39)	Y166C	probably damaging	Het
Prkch	C	T	12: 73,744,724 (GRCm39)	H246Y	probably damaging	Het
Ptk2	A	T	15: 73,134,413 (GRCm39)	L562*	probably null	Het
Rab3ip	C	T	10: 116,743,008 (GRCm39)	W439*	probably null	Het
Rasef	T	A	4: 73,659,208 (GRCm39)	R435*	probably null	Het
Rnf103	C	T	6: 71,485,708 (GRCm39)		probably benign	Het
Rtel1	T	C	2: 180,991,765 (GRCm39)	F388L	probably benign	Het
Sgip1	T	A	4: 102,824,847 (GRCm39)	D736E	possibly damaging	Het
Sgms2	A	G	3: 131,118,611 (GRCm39)	Y291H	probably damaging	Het
Sgsm3	A	G	15: 80,895,661 (GRCm39)		probably null	Het
Siglec1	T	A	2: 130,925,930 (GRCm39)	I259F	probably damaging	Het
Sik2	G	A	9: 50,828,382 (GRCm39)	P220L	probably damaging	Het
Slc29a3	A	G	10: 60,551,991 (GRCm39)	V351A	probably benign	Het
Slc36a3	A	G	11: 55,016,489 (GRCm39)	S369P	probably benign	Het
Srgap1	A	T	10: 121,640,919 (GRCm39)	M649K	probably damaging	Het
Thnsl1	A	G	2: 21,216,879 (GRCm39)	E211G	possibly damaging	Het
Tmprss9	A	G	10: 80,733,207 (GRCm39)		probably null	Het
Tpgs1	G	A	10: 79,511,421 (GRCm39)	V188M	probably damaging	Het
Vmn1r201	G	T	13: 22,659,355 (GRCm39)	V190F	probably damaging	Het
Vmn1r64	A	T	7: 5,886,622 (GRCm39)	L307Q	possibly damaging	Het
Wbp11	T	C	6: 136,791,252 (GRCm39)		probably benign	Het
Wdr35	A	G	12: 9,031,125 (GRCm39)	Y134C	probably damaging	Het
Zan	G	T	5: 137,412,521 (GRCm39)	C3263*	probably null	Het
Zc3h12c	G	T	9: 52,037,876 (GRCm39)	D301E	probably damaging	Het
Zfp365	A	C	10: 67,745,637 (GRCm39)	L47R	probably damaging	Het
Zmym6	C	T	4: 126,998,200 (GRCm39)	P412L	probably damaging	Het

Other mutations in Sds

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01715:Sds	APN	5	120,617,272 (GRCm39)	nonsense	probably null
R2567:Sds	UTSW	5	120,619,646 (GRCm39)	missense	probably damaging	1.00
R5490:Sds	UTSW	5	120,621,715 (GRCm39)	missense	possibly damaging	0.62
R6888:Sds	UTSW	5	120,618,965 (GRCm39)	critical splice donor site	probably null
R6958:Sds	UTSW	5	120,619,537 (GRCm39)	missense	probably damaging	0.98
R7030:Sds	UTSW	5	120,618,890 (GRCm39)	missense	probably benign
R7036:Sds	UTSW	5	120,618,912 (GRCm39)	missense	possibly damaging	0.77
R7152:Sds	UTSW	5	120,619,716 (GRCm39)	splice site	probably null
R7422:Sds	UTSW	5	120,617,254 (GRCm39)	missense	probably damaging	1.00
R7883:Sds	UTSW	5	120,617,278 (GRCm39)	missense	possibly damaging	0.92
R8094:Sds	UTSW	5	120,617,001 (GRCm39)	intron	probably benign
R8960:Sds	UTSW	5	120,621,659 (GRCm39)	missense	probably damaging	1.00
R9017:Sds	UTSW	5	120,618,655 (GRCm39)	missense	probably benign	0.00
R9058:Sds	UTSW	5	120,618,779 (GRCm39)	missense	possibly damaging	0.58
R9218:Sds	UTSW	5	120,621,677 (GRCm39)	missense	probably damaging	1.00
R9519:Sds	UTSW	5	120,619,610 (GRCm39)	missense	probably damaging	1.00
R9540:Sds	UTSW	5	120,618,927 (GRCm39)	missense	probably benign	0.11

Predicted Primers

PCR Primer
(F):5'- ATAGGGAGATGTTGAGAGCTTACC -3'
(R):5'- ACCACTTCTCTGAGAGCCAG -3'

Sequencing Primer
(F):5'- GCTTACCAGCCGCCTCC -3'
(R):5'- AGGATCTCCAGTTTGAGACCAGC -3'

Posted On

2016-11-09