Mutagenetix > Incidental Mutation

Incidental Mutation 'R7692:Sardh'

593433

Institutional Source

Beutler Lab

Gene Symbol

Sardh

Ensembl Gene

ENSMUSG00000009614

Gene Name

sarcosine dehydrogenase

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.064) question?

Stock #

R7692 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

27188393-27248337 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 27197639 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 740 (V740A)

Ref Sequence

ENSEMBL: ENSMUSP00000099950 (fasta)

Gene Model

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

AlphaFold

Q99LB7

Predicted Effect

probably benign
Transcript: ENSMUST00000102886
AA Change: V740A

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000099950
Gene: ENSMUSG00000009614
AA Change: V740A

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

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
Adam26b	G	A	8: 43,520,795	T390I	probably benign	Het
Adgb	A	G	10: 10,411,712		probably null	Het
Ado	G	T	10: 67,548,435	Y113*	probably null	Het
Angptl1	A	G	1: 156,845,315	E237G	probably damaging	Het
Arid2	T	A	15: 96,356,697	Y141*	probably null	Het
Clvs1	T	C	4: 9,350,739	I183T	probably benign	Het
Dnah1	T	C	14: 31,292,338	K1817E	probably benign	Het
Eif3e	C	A	15: 43,263,246	R271L	probably damaging	Het
Eml6	A	G	11: 29,753,085	V1611A	probably damaging	Het
Enpp3	G	T	10: 24,784,841	Y634*	probably null	Het
Evi5l	C	T	8: 4,200,886	R394W	probably damaging	Het
Fcgr3	A	C	1: 171,054,092	F156V	probably damaging	Het
Fmo1	T	A	1: 162,833,833	T294S	probably benign	Het
Gabrb3	A	G	7: 57,816,455	Q339R	probably damaging	Het
Gen1	T	A	12: 11,242,166	T606S	probably benign	Het
Gfod1	T	C	13: 43,201,052	Q149R	probably benign	Het
Golm1	A	G	13: 59,640,257	V276A	probably benign	Het
Hc	C	A	2: 35,024,149	V849F	probably damaging	Het
Hectd4	T	C	5: 121,321,564	I832T	possibly damaging	Het
Hspa14	T	C	2: 3,496,606	D283G	probably damaging	Het
Lztfl1	C	T	9: 123,712,471	W94*	probably null	Het
Lzts3	T	C	2: 130,635,386	S381G	probably benign	Het
Mgat2	A	G	12: 69,184,670	Y6C	probably damaging	Het
Mrpl30	T	C	1: 37,895,358	I27T	probably benign	Het
Muc5b	A	T	7: 141,853,229	T1045S	unknown	Het
Nlrp4a	G	A	7: 26,449,265	R99Q	probably benign	Het
Olfr1450	A	G	19: 12,953,642	T18A	possibly damaging	Het
Olfr1510	T	C	14: 52,410,488	Y128C	probably damaging	Het
Phlpp1	T	C	1: 106,281,402	L495P	probably damaging	Het
Pla2g4d	T	C	2: 120,279,295	D178G	possibly damaging	Het
Prl5a1	C	G	13: 28,150,014	L167V	probably damaging	Het
Sbno1	T	G	5: 124,405,646	T277P	probably benign	Het
Slc2a1	T	C	4: 119,136,265	V433A	probably damaging	Het
Slc4a10	T	C	2: 62,303,964	V1008A	possibly damaging	Het
Smarcal1	T	G	1: 72,586,020	S109A	probably benign	Het
Speg	A	G	1: 75,401,190	D864G	probably benign	Het
Steap4	T	C	5: 7,976,976	I313T	probably benign	Het
Tab2	A	T	10: 7,911,105	D614E	probably damaging	Het
Tenm4	A	G	7: 96,895,403	K2246E	probably damaging	Het
Timm23	A	G	14: 32,180,563	S208P	probably damaging	Het
Tmem229a	C	A	6: 24,955,212	C181F	probably benign	Het
Ugdh	T	C	5: 65,417,615	Y356C	probably damaging	Het
Ugt2a1	A	G	5: 87,486,727	L7P	probably damaging	Het
Uhrf1	A	G	17: 56,312,905	D272G	possibly damaging	Het
Vmn1r206	T	A	13: 22,620,657	I127F	probably damaging	Het
Vmn2r106	T	C	17: 20,285,228	Y68C	possibly damaging	Het
Zfand6	G	A	7: 84,633,933	P72L	not run	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
IGL02167:Sardh	APN	2	27191975	missense	probably damaging	0.98
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
R7709:Sardh	UTSW	2	27241517	missense	possibly damaging	0.62
R7884:Sardh	UTSW	2	27239371	missense	probably damaging	0.99
R8028:Sardh	UTSW	2	27230455	missense	probably damaging	1.00
R8095:Sardh	UTSW	2	27242718	missense	probably damaging	1.00
R8120:Sardh	UTSW	2	27218851	missense	possibly damaging	0.62
R8302:Sardh	UTSW	2	27215110	missense	probably benign	0.03
R8323:Sardh	UTSW	2	27235564	missense	probably damaging	1.00
R8535:Sardh	UTSW	2	27239645	missense	probably damaging	1.00
R8704:Sardh	UTSW	2	27230465	missense	possibly damaging	0.50
R8781:Sardh	UTSW	2	27196703	missense	possibly damaging	0.95
R8858:Sardh	UTSW	2	27228290	missense	probably null	1.00
R9265:Sardh	UTSW	2	27215053	missense	probably damaging	0.99
R9337:Sardh	UTSW	2	27196666	missense	probably benign	0.11
R9342:Sardh	UTSW	2	27230857	missense	possibly damaging	0.95
R9539:Sardh	UTSW	2	27244286	missense	probably damaging	0.99
R9600:Sardh	UTSW	2	27230501	missense	probably benign
R9714:Sardh	UTSW	2	27189629	missense	possibly damaging	0.64
X0011:Sardh	UTSW	2	27242746	missense	probably damaging	1.00
Z1176:Sardh	UTSW	2	27196673	missense	probably benign	0.08
Z1176:Sardh	UTSW	2	27218834	missense	possibly damaging	0.88
Z1176:Sardh	UTSW	2	27218890	missense	possibly damaging	0.52
Z1177:Sardh	UTSW	2	27235513	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTGAGAAATTGCACAAGGCTGG -3'
(R):5'- AGCTCAGCTTCTGTGAACACTC -3'

Sequencing Primer
(F):5'- TCTAAACACCAGTGACAGGAGTG -3'
(R):5'- TTCTGTGAACACTCCTCAGAAAGTC -3'

Posted On

2019-11-12