Mutagenetix > Incidental Mutation

Incidental Mutation 'R6021:Sardh'

478915

Institutional Source

Beutler Lab

Gene Symbol

Sardh

Ensembl Gene

ENSMUSG00000009614

Gene Name

sarcosine dehydrogenase

Synonyms

MMRRC Submission

044194-MU

Accession Numbers

Essential gene?

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

Stock #

R6021 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

27188393-27248337 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 27189643 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 879 (V879A)

Ref Sequence

ENSEMBL: ENSMUSP00000099950 (fasta)

Gene Model

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

AlphaFold

Q99LB7

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000091224

Predicted Effect

probably benign
Transcript: ENSMUST00000102886
AA Change: V879A

PolyPhen 2 Score 0.445 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000099950
Gene: ENSMUSG00000009614
AA Change: V879A

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: ENSMUST00000142136

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156434

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000170435

Meta Mutation Damage Score

0.1137

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.5%
20x: 92.2%

Validation Efficiency

94% (61/65)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010111I01Rik	A	G	13: 63,061,082	T338A	probably damaging	Het
4933427I04Rik	A	G	4: 123,860,716	D141G	possibly damaging	Het
A1bg	T	C	15: 60,919,864	E241G	possibly damaging	Het
Abca13	G	A	11: 9,290,465	W776*	probably null	Het
Akr1b10	T	A	6: 34,392,374		probably null	Het
Atf7	T	C	15: 102,557,473	D84G	probably benign	Het
AW209491	C	T	13: 14,637,780	A406V	probably benign	Het
Azi2	T	A	9: 118,047,419	M1K	probably null	Het
Boc	T	A	16: 44,488,654	M832L	probably benign	Het
Brix1	C	T	15: 10,476,589	R267H	probably benign	Het
Cacna1s	T	C	1: 136,106,487	L1050P	probably benign	Het
Celsr2	G	T	3: 108,401,245	P1789T	probably benign	Het
Crebbp	G	A	16: 4,085,418	R1986C	probably damaging	Het
Crtam	T	A	9: 40,990,181	I150F	probably damaging	Het
Crybg1	G	T	10: 43,997,538	S1191R	probably damaging	Het
D630045J12Rik	T	C	6: 38,190,617	T1017A	probably benign	Het
Dnah10	A	G	5: 124,736,984	E396G	probably damaging	Het
Enpp5	A	T	17: 44,085,319	Y374F	probably benign	Het
Fzd4	G	A	7: 89,407,734	A330T	probably benign	Het
Gabra5	A	G	7: 57,507,992	S25P	probably benign	Het
Ggps1	T	C	13: 14,054,004	Y198C	probably damaging	Het
Gm13101	A	T	4: 143,965,766	C222S	probably benign	Het
Gm13762	G	T	2: 88,973,032	Y286*	probably null	Het
Gm3173	A	C	14: 4,514,873	D39A	probably damaging	Het
Gm4869	A	T	5: 140,469,679	M347L	probably damaging	Het
Grm2	T	C	9: 106,650,800	D295G	probably damaging	Het
H2-Bl	T	G	17: 36,081,274	E182A	probably damaging	Het
Igfbp5	A	G	1: 72,863,204	M208T	possibly damaging	Het
Ildr2	T	A	1: 166,303,604	M343K	possibly damaging	Het
Loxhd1	A	T	18: 77,412,250	D120V	probably damaging	Het
Lrp1	T	C	10: 127,578,014	D1175G	probably damaging	Het
Lrp1b	C	A	2: 41,344,427	D1171Y	probably benign	Het
Lrrc9	A	T	12: 72,469,231	I563F	probably damaging	Het
Ltbp3	A	T	19: 5,753,680	T798S	probably benign	Het
Msantd4	T	A	9: 4,384,063	V128E	probably benign	Het
Mtf2	A	G	5: 108,081,137	I69V	possibly damaging	Het
Myh10	T	A	11: 68,808,862	S1712T	possibly damaging	Het
Mylk3	A	G	8: 85,364,813	V121A	possibly damaging	Het
Ndufaf4	A	G	4: 24,901,760	N100D	probably benign	Het
Notch2	T	C	3: 98,121,972	F1017S	probably damaging	Het
Olfr1197	G	T	2: 88,728,950	Y216*	probably null	Het
Olfr1253	A	C	2: 89,752,121	S236A	probably benign	Het
P2ry2	T	C	7: 100,998,400	T233A	probably benign	Het
Paip1	T	"TTA,TT"	13: 119,457,135		probably null	Het
Pak1	T	C	7: 97,854,463	S2P	probably damaging	Het
Pde8b	A	T	13: 95,026,162	D817E	possibly damaging	Het
Pfdn2	C	A	1: 171,345,770		probably benign	Het
Raver1	A	G	9: 21,076,622	L606P	probably damaging	Het
Robo3	C	T	9: 37,422,533	W668*	probably null	Het
Rsf1	G	GACGGCGGCT	7: 97,579,909		probably benign	Het
Rxfp2	A	G	5: 150,063,737	N337S	possibly damaging	Het
Samhd1	T	C	2: 157,120,554		probably null	Het
Slc4a4	A	T	5: 89,040,402		probably benign	Het
Slc6a11	T	C	6: 114,230,051	L332P	probably damaging	Het
Tas2r135	T	C	6: 42,406,387	Y287H	probably damaging	Het
Tlr4	T	A	4: 66,840,866	I632N	probably damaging	Het
Tmem145	C	T	7: 25,308,845		probably null	Het
Trmt61a	C	A	12: 111,680,977	F169L	probably damaging	Het
Trp53tg5	T	A	2: 164,471,471	I95L	probably benign	Het
Vmn1r85	T	C	7: 13,084,689	E176G	probably benign	Het
Vmn2r75	T	C	7: 86,171,612	D38G	probably benign	Het
Vmn2r99	A	G	17: 19,377,948	Y78C	probably damaging	Het
Wrb	T	C	16: 96,145,678		probably benign	Het
Zfp964	G	T	8: 69,663,092	S114I	unknown	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
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
R7692:Sardh	UTSW	2	27197639	missense	probably benign	0.01
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'- CCTTTATTCTGGGTCTCAGGAC -3'
(R):5'- ACAGGGCACATGAGCTGTTG -3'

Sequencing Primer
(F):5'- CACAAGGCTGTGTGTGCAG -3'
(R):5'- GCACATGAGCTGTTGTTCTTTG -3'

Posted On

2017-06-26