Mutagenetix > Incidental Mutation

Incidental Mutation 'R7709:Sardh'

594432

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 #

R7709 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

27188393-27248337 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 27241517 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 188 (T188S)

Ref Sequence

ENSEMBL: ENSMUSP00000099950 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000102886] [ENSMUST00000129975] [ENSMUST00000139312] [ENSMUST00000149733]

AlphaFold

Q99LB7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000102886
AA Change: T188S

PolyPhen 2 Score 0.618 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000099950
Gene: ENSMUSG00000009614
AA Change: T188S

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

probably benign
Transcript: ENSMUST00000129975

Predicted Effect

possibly damaging
Transcript: ENSMUST00000139312
AA Change: T188S

PolyPhen 2 Score 0.618 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000119866
Gene: ENSMUSG00000009614
AA Change: T188S

Domain	Start	End	E-Value	Type
Pfam:DAO	69	197	9.3e-29	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000149733
AA Change: T188S

PolyPhen 2 Score 0.618 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000120478
Gene: ENSMUSG00000009614
AA Change: T188S

Domain	Start	End	E-Value	Type
Pfam:DAO	69	203	9.7e-30	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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	A	G	3: 124,407,685	I443T	probably damaging	Het
2310002L09Rik	A	G	4: 73,942,854	C170R	possibly damaging	Het
4932415D10Rik	A	C	10: 82,290,532	S2215A	possibly damaging	Het
4933415A04Rik	GTGTGTGTGTATGTGTGTGT	GTGTGTGTGT	11: 43,587,410		probably null	Het
A2m	A	C	6: 121,660,104	T809P	possibly damaging	Het
Abca12	T	C	1: 71,335,728	D340G	probably benign	Het
Abcg8	A	T	17: 84,692,491	D191V	probably damaging	Het
Acan	G	T	7: 79,089,608	V255F	probably damaging	Het
Ace	G	A	11: 105,988,837	V1248I	probably benign	Het
Adgre1	A	T	17: 57,402,519	Q87L	unknown	Het
Adgrl1	G	A	8: 83,938,988	V1435M	probably benign	Het
Ano8	T	C	8: 71,482,289	D423G	probably damaging	Het
Aox3	T	C	1: 58,180,651	Y1137H	probably damaging	Het
Arl5a	T	C	2: 52,405,056	D114G	probably benign	Het
Baiap2l2	G	T	15: 79,259,711	N394K	probably benign	Het
Cap1	A	T	4: 122,862,674	C355S	probably damaging	Het
Ccdc25	A	T	14: 65,840,484	D22V	probably damaging	Het
Ceacam2	T	C	7: 25,538,651	D116G	probably damaging	Het
Clec4b2	A	G	6: 123,173,015		probably benign	Het
CN725425	C	A	15: 91,240,727	R157S	probably benign	Het
Coq8b	T	C	7: 27,250,537	I347T	probably damaging	Het
Ctbp2	C	A	7: 132,990,060	V338L	probably benign	Het
Cyp2d22	A	G	15: 82,374,411	V83A	possibly damaging	Het
Daam1	G	A	12: 71,977,649	R797H	probably benign	Het
Dab1	C	A	4: 104,720,559	S275*	probably null	Het
Dgkz	T	C	2: 91,937,059	E863G	probably benign	Het
Dhx34	G	A	7: 16,212,864	A515V	possibly damaging	Het
Dnah14	T	C	1: 181,702,484		probably null	Het
Dnmt3b	C	A	2: 153,672,220	N384K	probably benign	Het
Dock5	A	G	14: 67,796,005	Y972H	probably benign	Het
Etv5	A	T	16: 22,412,847	Y138*	probably null	Het
Fdps	A	G	3: 89,101,090	S4P	probably damaging	Het
Gart	A	G	16: 91,622,965	F885L	possibly damaging	Het
Gm32687	A	T	10: 81,879,494	H240L	probably damaging	Het
Gm34653	T	G	2: 34,838,425	C79G	probably damaging	Het
Gm4553	C	T	7: 142,165,647	G15R	unknown	Het
Gm572	C	T	4: 148,668,951	T351M	probably damaging	Het
Gpr3	A	T	4: 133,210,437	L308Q	probably damaging	Het
Gpsm2	A	G	3: 108,701,781	V174A	probably benign	Het
Gucy1a1	T	C	3: 82,094,789	H661R	unknown	Het
Heatr4	A	T	12: 83,957,725	M774K	probably damaging	Het
Hmgcr	A	G	13: 96,663,097	I163T	possibly damaging	Het
Ift81	C	T	5: 122,609,331	V91M	probably damaging	Het
Igsf10	G	T	3: 59,331,543	Q406K	probably damaging	Het
Il10ra	A	G	9: 45,260,399	V257A	probably benign	Het
Ina	A	T	19: 47,023,643	K500I		Het
Lce1i	A	T	3: 92,777,759	C37S	unknown	Het
Lrrc59	A	T	11: 94,634,985	D133V	probably damaging	Het
Magi3	A	G	3: 104,034,038	I867T	probably damaging	Het
Mmaa	T	A	8: 79,269,201	R298W	probably damaging	Het
Mon1a	G	T	9: 107,900,128	V77F	probably benign	Het
Mrc2	A	G	11: 105,346,459	T1030A	probably benign	Het
Mrps27	T	A	13: 99,404,996	S162T	probably benign	Het
Mtmr12	T	A	15: 12,245,011	M204K	probably damaging	Het
Mtus1	A	G	8: 41,054,650	I21T	possibly damaging	Het
Myh2	T	C	11: 67,194,864	V1844A	probably benign	Het
Myh7	C	G	14: 54,988,801	D461H	probably damaging	Het
Nbr1	T	G	11: 101,556,241	F18V	probably damaging	Het
Npy2r	T	C	3: 82,540,382	N362S	probably benign	Het
Ocln	T	A	13: 100,539,598	Y129F	probably damaging	Het
Olfr1258	T	C	2: 89,929,881	I24T	probably benign	Het
Olfr31	T	C	14: 14,328,384	I91T	probably damaging	Het
Olfr898	A	G	9: 38,349,277	M59V	probably benign	Het
Pik3c2b	T	G	1: 133,079,841		probably null	Het
Prss39	A	G	1: 34,502,628	D262G	probably damaging	Het
Ptk7	T	A	17: 46,571,643	D886V	possibly damaging	Het
Ptprg	T	A	14: 12,226,452	D1348E	probably damaging	Het
Rabgap1	T	C	2: 37,537,327	I640T	possibly damaging	Het
Rogdi	A	G	16: 5,009,234	Y303H	probably damaging	Het
Rps6kb1	A	T	11: 86,513,322	M283K	probably damaging	Het
Sebox	A	G	11: 78,504,093	E87G	probably damaging	Het
Smchd1	A	T	17: 71,358,198	M1830K	probably damaging	Het
Spink8	G	A	9: 109,816,780	V7I	probably benign	Het
Src	G	A	2: 157,457,244	V54M	probably benign	Het
Taar2	A	G	10: 23,940,723	I54V	probably benign	Het
Tpo	A	T	12: 30,131,860	V12E	possibly damaging	Het
Txk	T	C	5: 72,707,575	D373G	probably damaging	Het
Ubr5	G	A	15: 37,979,832	A2434V	probably null	Het
Vil1	C	T	1: 74,426,595	T515M	probably benign	Het
Wdr47	G	T	3: 108,618,521	C120F	probably damaging	Het
Ylpm1	C	T	12: 85,013,025	P335L	unknown	Het
Zfp148	T	A	16: 33,468,175	I220N	probably damaging	Het
Zfp992	A	T	4: 146,467,165	K448*	probably null	Het
Zfp994	T	C	17: 22,200,425	I514M	probably benign	Het
Zp2	A	T	7: 120,135,775	I429N	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
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
R7692:Sardh	UTSW	2	27197639	missense	probably benign	0.01
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'- GGCCAAGGATGAAATCTGTTCTC -3'
(R):5'- CTCTGGGCATAGAGACTTGCTC -3'

Sequencing Primer
(F):5'- CAAGGATGAAATCTGTTCTCTGGCC -3'
(R):5'- CATAGAGACTTGCTCAGGCTTCTAG -3'

Posted On

2019-11-12