Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02167:Sardh'

282766

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Sardh

Ensembl Gene

ENSMUSG00000009614

Gene Name

sarcosine dehydrogenase

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.089) question?

Stock #

IGL02167

Quality Score

Status

Chromosome

Chromosomal Location

27188393-27248337 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 27191975 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 846 (N846K)

Ref Sequence

ENSEMBL: ENSMUSP00000099950 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000102886]

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000091224

Predicted Effect

probably damaging
Transcript: ENSMUST00000102886
AA Change: N846K

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000099950
Gene: ENSMUSG00000009614
AA Change: N846K

Domain	Start	End	E-Value	Type
Pfam:DAO	69	428	1.7e-63	PFAM
Pfam:FAO_M	431	486	9.2e-22	PFAM
Pfam:GCV_T	489	799	3.1e-64	PFAM
Pfam:GCV_T_C	807	904	4.7e-16	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127805

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142136

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156434

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000170435

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an enzyme localized to the mitochondrial matrix which catalyzes the oxidative demethylation of sarcosine. This enzyme is distinct from another mitochondrial matrix enzyme, dimethylglycine dehydrogenase, which catalyzes a reaction resulting in the formation of sarcosine. Mutations in this gene are associated with sarcosinemia. Alternatively spliced transcript variants have been described. [provided by RefSeq, Oct 2008]

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	T	A	6: 23,122,722		probably benign	Het
Cacna1f	T	C	X: 7,616,019	Y581H	probably damaging	Het
Camsap1	C	T	2: 25,934,300	R1416H	probably damaging	Het
Ccdc117	T	C	11: 5,531,333	E266G	possibly damaging	Het
Ccdc9	A	T	7: 16,284,359	L8*	probably null	Het
Cited2	T	C	10: 17,724,270	S109P	probably benign	Het
Cnot4	T	C	6: 35,056,224	D286G	possibly damaging	Het
Col5a1	T	C	2: 28,018,556	I52T	probably benign	Het
Cry2	T	C	2: 92,433,821	N68S	possibly damaging	Het
Cul4a	T	C	8: 13,122,826	F153S	probably damaging	Het
Ddr1	T	C	17: 35,690,071	S261G	possibly damaging	Het
Depdc5	G	A	5: 32,903,801	R324Q	probably damaging	Het
Dmgdh	A	G	13: 93,720,627		probably benign	Het
Epha8	A	T	4: 136,931,094	M990K	probably damaging	Het
Gpr137c	G	T	14: 45,279,955	G383C	probably damaging	Het
Hydin	T	A	8: 110,418,423	I802N	possibly damaging	Het
Ifne	A	G	4: 88,879,828	Y118H	possibly damaging	Het
Kansl2	T	C	15: 98,533,515		probably benign	Het
Lig4	T	A	8: 9,971,821	N653I	probably benign	Het
Nagk	A	G	6: 83,801,106	D246G	probably damaging	Het
Nav1	A	G	1: 135,470,961	S628P	probably damaging	Het
Ncoa3	A	G	2: 166,070,136	Y1401C	probably damaging	Het
Ndufa9	A	G	6: 126,844,785		probably benign	Het
Nynrin	G	T	14: 55,863,335	R194L	probably damaging	Het
Olfr1115	G	A	2: 87,252,198	C87Y	probably benign	Het
Olfr17	A	T	7: 107,097,661	R65S	probably benign	Het
Olfr45	T	A	7: 140,691,751	V282D	probably damaging	Het
Orc2	A	T	1: 58,483,639		probably benign	Het
Oxgr1	T	A	14: 120,021,930	R288S	probably damaging	Het
Prkcg	T	C	7: 3,322,581		probably null	Het
Prox1	T	C	1: 190,161,280	N323D	probably benign	Het
Prrt1	A	C	17: 34,631,855	E215A	possibly damaging	Het
Rab2b	T	C	14: 52,268,696	D103G	probably damaging	Het
Slc38a8	T	A	8: 119,487,360	T248S	probably benign	Het
Slc6a18	T	C	13: 73,666,472		probably null	Het
Smcp	T	C	3: 92,584,199	T114A	unknown	Het
Tmem8	T	C	17: 26,119,071	S450P	probably damaging	Het
Trpv1	A	G	11: 73,254,797	N754D	probably damaging	Het
Txnrd1	A	T	10: 82,881,911	H243L	probably benign	Het
Wdfy3	T	C	5: 101,961,157	M125V	probably damaging	Het
Wnk2	T	C	13: 49,071,125		probably null	Het
Wrn	T	C	8: 33,317,555	M292V	probably damaging	Het
Zbtb17	T	C	4: 141,461,829	L20P	possibly damaging	Het
Zfp608	T	C	18: 54,988,224	H97R	probably damaging	Het
Zfp68	T	A	5: 138,606,367	M565L	probably benign	Het
Zfp687	T	C	3: 95,010,530	T644A	probably benign	Het
Zfp777	C	T	6: 48,044,526	G54D	probably damaging	Het

Other mutations in Sardh

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01110:Sardh	APN	2	27215113	missense	probably benign	0.07
IGL01686:Sardh	APN	2	27189613	missense	probably damaging	1.00
IGL01868:Sardh	APN	2	27227147	missense	probably benign	0.35
IGL02272:Sardh	APN	2	27224991	missense	probably benign	0.00
IGL02870:Sardh	APN	2	27235491	missense	possibly damaging	0.93
IGL03117:Sardh	APN	2	27239446	missense	probably damaging	1.00
PIT4305001:Sardh	UTSW	2	27228314	missense	probably damaging	1.00
PIT4791001:Sardh	UTSW	2	27197648	missense	probably damaging	1.00
R0265:Sardh	UTSW	2	27227066	splice site	probably benign
R0781:Sardh	UTSW	2	27191919	missense	possibly damaging	0.82
R1110:Sardh	UTSW	2	27191919	missense	possibly damaging	0.82
R1242:Sardh	UTSW	2	27235563	missense	probably damaging	1.00
R1404:Sardh	UTSW	2	27239461	missense	probably damaging	1.00
R1404:Sardh	UTSW	2	27239461	missense	probably damaging	1.00
R1514:Sardh	UTSW	2	27197690	missense	possibly damaging	0.95
R1565:Sardh	UTSW	2	27242719	missense	probably damaging	1.00
R1832:Sardh	UTSW	2	27235569	missense	possibly damaging	0.95
R1836:Sardh	UTSW	2	27215182	missense	possibly damaging	0.65
R1997:Sardh	UTSW	2	27244397	missense	probably damaging	0.97
R2006:Sardh	UTSW	2	27228339	missense	probably damaging	1.00
R2046:Sardh	UTSW	2	27215082	missense	possibly damaging	0.95
R2242:Sardh	UTSW	2	27235515	missense	possibly damaging	0.93
R2897:Sardh	UTSW	2	27189547	missense	probably benign	0.00
R4332:Sardh	UTSW	2	27215114	missense	possibly damaging	0.85
R4807:Sardh	UTSW	2	27189527	missense	probably benign	0.00
R4841:Sardh	UTSW	2	27191955	missense	probably benign	0.09
R4842:Sardh	UTSW	2	27191955	missense	probably benign	0.09
R4856:Sardh	UTSW	2	27244477	missense	probably benign	0.02
R4936:Sardh	UTSW	2	27228241	splice site	probably null
R5089:Sardh	UTSW	2	27239613	critical splice donor site	probably null
R5110:Sardh	UTSW	2	27189547	missense	probably benign	0.00
R5257:Sardh	UTSW	2	27244259	missense	probably damaging	0.98
R5406:Sardh	UTSW	2	27211084	missense	possibly damaging	0.72
R5450:Sardh	UTSW	2	27239698	missense	possibly damaging	0.65
R5594:Sardh	UTSW	2	27220723	missense	probably damaging	1.00
R5870:Sardh	UTSW	2	27220641	critical splice donor site	probably null
R6014:Sardh	UTSW	2	27197528	critical splice donor site	probably null
R6021:Sardh	UTSW	2	27189643	missense	probably benign	0.44
R6470:Sardh	UTSW	2	27244372	missense	probably damaging	1.00
R6577:Sardh	UTSW	2	27218855	missense	possibly damaging	0.95
R6750:Sardh	UTSW	2	27228257	missense	probably benign	0.04
R7035:Sardh	UTSW	2	27230842	missense	probably damaging	1.00
R7162:Sardh	UTSW	2	27197690	missense	possibly damaging	0.95
R7256:Sardh	UTSW	2	27218812	missense	probably benign
X0011:Sardh	UTSW	2	27242746	missense	probably damaging	1.00

Posted On

2015-04-16