Mutagenetix > Incidental Mutation

Incidental Mutation 'R8323:Sardh'

643903

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: 0.091) question?

Stock #

R8323 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

27188393-27248337 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 27235564 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 313 (D313N)

Ref Sequence

ENSEMBL: ENSMUSP00000099950 (fasta)

Gene Model

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

AlphaFold

Q99LB7

Predicted Effect

probably damaging
Transcript: ENSMUST00000102886
AA Change: D313N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000099950
Gene: ENSMUSG00000009614
AA Change: D313N

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: 99.5%
20x: 98.3%

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130019O22Rik	A	T	7: 127,384,449	C494S	possibly damaging	Het
A3galt2	T	C	4: 128,755,558	F6S	probably benign	Het
Braf	T	C	6: 39,643,124	T507A	possibly damaging	Het
Catsperb	A	C	12: 101,409,399	H24P	probably benign	Het
Ccdc57	G	T	11: 120,897,924	Q366K	possibly damaging	Het
Cep295	G	T	9: 15,338,233	T462K	possibly damaging	Het
Cep295	T	A	9: 15,353,061	R96S	probably damaging	Het
Cfap206	C	T	4: 34,719,647	E256K	probably benign	Het
Cldn13	A	G	5: 134,914,974	V119A	probably benign	Het
Csmd1	G	T	8: 17,216,735	C58*	probably null	Het
Csmd3	T	C	15: 47,698,151	Y1343C		Het
Dcbld2	T	A	16: 58,463,110		probably null	Het
Dnah14	A	G	1: 181,704,544	I2299V	probably benign	Het
Dsp	C	T	13: 38,172,830	H229Y	possibly damaging	Het
Fam193b	A	T	13: 55,554,410	C51*	probably null	Het
Fbxw10	G	A	11: 62,876,680	V781I	probably benign	Het
Fdps	G	T	3: 89,095,389	P151T	possibly damaging	Het
Galk2	C	T	2: 125,866,378	H16Y	probably benign	Het
Gm1110	A	G	9: 26,902,423		probably null	Het
Gm340	T	C	19: 41,583,597	S264P	probably benign	Het
Gm3727	C	T	14: 7,261,693	V204I	probably benign	Het
Gtf2h3	A	G	5: 124,582,471	I13V	probably benign	Het
H2-T24	T	A	17: 36,017,539		probably null	Het
Heatr5a	C	T	12: 51,955,506	V216M	probably benign	Het
Hspg2	C	G	4: 137,518,979	P1023A	possibly damaging	Het
Igfbp2	C	T	1: 72,849,621	P224S	probably damaging	Het
Igkv17-127	A	G	6: 67,861,514	I70V	possibly damaging	Het
Kif11	T	A	19: 37,384,244	F27I	possibly damaging	Het
Lrrc28	G	T	7: 67,595,707	T137K	unknown	Het
Lyg1	T	A	1: 37,949,937	R67S	probably damaging	Het
Ms4a10	G	A	19: 10,962,999	Q255*	probably null	Het
Myo1h	A	G	5: 114,342,139	R512G		Het
Nmnat3	T	C	9: 98,410,223	Y174H	probably damaging	Het
Nrap	T	C	19: 56,389,823	I19V	probably benign	Het
Nsf	C	A	11: 103,928,839	V35L	probably benign	Het
Olfr1361	T	A	13: 21,659,132	M64L	possibly damaging	Het
Olfr390	A	T	11: 73,786,940	M1L	probably damaging	Het
Osbpl9	A	G	4: 109,107,922	S116P	probably benign	Het
Pcdhb15	A	C	18: 37,475,662	E649A	probably benign	Het
Pcdhb8	T	A	18: 37,355,423	D51E	probably benign	Het
Plcl1	T	A	1: 55,697,736	D745E	possibly damaging	Het
Prss3	A	G	6: 41,374,324	L165P	probably damaging	Het
Psme4	T	A	11: 30,843,532	I1211N	probably damaging	Het
Rb1	A	G	14: 73,265,583	V416A	probably benign	Het
Rnf111	T	A	9: 70,475,922	Q243L	probably benign	Het
Sacm1l	T	C	9: 123,548,922	V89A	probably benign	Het
Scin	T	C	12: 40,079,682	I371V	probably benign	Het
Scn10a	C	A	9: 119,609,396	L1801F	possibly damaging	Het
Sele	G	A	1: 164,051,638	V281M	possibly damaging	Het
Slc17a1	C	A	13: 23,887,999	T400K	probably damaging	Het
Slc22a28	T	A	19: 8,131,424	D118V	probably damaging	Het
Slc2a10	T	A	2: 165,514,751	F110L	probably benign	Het
Slc51a	A	G	16: 32,476,379	S294P	probably damaging	Het
Snapc4	T	C	2: 26,364,699	E1271G	probably benign	Het
Spata31	C	A	13: 64,922,251	Q738K	possibly damaging	Het
Spdya	A	G	17: 71,588,592	D284G	probably benign	Het
Tdrd5	T	C	1: 156,267,262	D757G	possibly damaging	Het
Tmem104	T	C	11: 115,243,373	F245S	probably damaging	Het
Tmem170	A	T	8: 111,876,521	S39T	probably benign	Het
Trim24	G	T	6: 37,915,298		probably null	Het
Uap1	A	G	1: 170,151,066	V302A	probably damaging	Het
Vmn2r96	A	T	17: 18,582,761	Y311F	probably damaging	Het
Wdhd1	A	T	14: 47,274,795	D46E	possibly damaging	Het
Wdr66	A	G	5: 123,297,525	N1016S	probably benign	Het
Zdbf2	G	A	1: 63,302,914	V151I	possibly damaging	Het
Zfp943	A	G	17: 21,992,782	Q283R	possibly damaging	Het
Zfp944	A	T	17: 22,339,254	D337E	probably benign	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
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
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'- GAGTGCTAGCTCTCAGAAGC -3'
(R):5'- CGAAAATATGGCAGTGCTTCTG -3'

Sequencing Primer
(F):5'- TAGCTCTCAGAAGCACTCAAGTTGG -3'
(R):5'- TTCTGAAAGCAGTCCTGAACTCAG -3'

Posted On

2020-09-02