Mutagenetix > Incidental Mutation

Incidental Mutation 'R1836:Sardh'

205250

Institutional Source

Beutler Lab

Gene Symbol

Sardh

Ensembl Gene

ENSMUSG00000009614

Gene Name

sarcosine dehydrogenase

Synonyms

MMRRC Submission

039863-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.091) question?

Stock #

R1836 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

27188393-27248337 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 27215182 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 643 (D643V)

Ref Sequence

ENSEMBL: ENSMUSP00000099950 (fasta)

Gene Model

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

AlphaFold

Q99LB7

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000091224

Predicted Effect

possibly damaging
Transcript: ENSMUST00000102886
AA Change: D643V

PolyPhen 2 Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000099950
Gene: ENSMUSG00000009614
AA Change: D643V

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: ENSMUST00000144448

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147089

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000170435

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.1%
20x: 91.8%

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: 108 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700029P11Rik	T	C	15: 81,980,867	V103A	probably damaging	Het
2210408I21Rik	A	G	13: 77,323,374	E966G	probably benign	Het
7420426K07Rik	C	A	9: 98,903,482	R67S	probably benign	Het
9330159F19Rik	T	C	10: 29,221,799	V64A	probably damaging	Het
Abcb5	G	T	12: 118,867,961	Q1219K	possibly damaging	Het
Acox2	A	T	14: 8,248,059	C408S	possibly damaging	Het
Acsf3	T	A	8: 122,780,183	Y72N	probably damaging	Het
Acss2	T	A	2: 155,558,630	Y530N	probably damaging	Het
Adam28	T	C	14: 68,649,421	E48G	possibly damaging	Het
Adgrv1	A	C	13: 81,504,113	M2957R	probably benign	Het
Adi1	C	A	12: 28,679,563	D138E	probably benign	Het
Alk	A	C	17: 71,891,037	L1228R	probably damaging	Het
Alms1	T	A	6: 85,678,503	S3344T	possibly damaging	Het
Aox2	G	A	1: 58,308,991	A623T	probably benign	Het
Arhgef2	C	T	3: 88,639,459	T545I	probably damaging	Het
Atp8a2	T	A	14: 60,006,366	N630I	possibly damaging	Het
Bcl9	G	T	3: 97,205,870	Q1090K	probably damaging	Het
Bdp1	A	G	13: 100,035,145	S2152P	probably benign	Het
Birc6	T	A	17: 74,614,390	S2155T	probably benign	Het
Camk2b	T	C	11: 5,972,384	E488G	probably damaging	Het
Capn9	T	A	8: 124,605,565		probably null	Het
Cd209f	A	G	8: 4,104,491	S119P	probably damaging	Het
Cep78	T	C	19: 15,969,169	E433G	probably damaging	Het
Chid1	G	T	7: 141,526,496		probably null	Het
Cldnd2	T	C	7: 43,442,925	S129P	possibly damaging	Het
Cobll1	A	T	2: 65,126,236	F289Y	probably damaging	Het
Creb1	C	T	1: 64,550,950	Q32*	probably null	Het
Creb3l4	G	T	3: 90,238,903	S182Y	probably benign	Het
Dgcr2	A	T	16: 17,849,720	C292S	probably damaging	Het
Dnah8	T	C	17: 30,874,927	V4665A	possibly damaging	Het
Dnah9	A	T	11: 66,118,841	M740K	probably benign	Het
Dnmt1	G	A	9: 20,918,246	T687I	probably damaging	Het
Ece1	C	T	4: 137,958,001	R601W	probably damaging	Het
Echdc2	C	A	4: 108,165,535	R3S	probably damaging	Het
Ep400	A	T	5: 110,705,054	L1275Q	unknown	Het
Epha6	A	T	16: 60,205,745	W445R	probably damaging	Het
Ercc5	T	A	1: 44,180,875	S1102R	probably benign	Het
Fam228a	T	G	12: 4,715,620	T264P	probably damaging	Het
Fzd6	T	A	15: 39,033,920	I488N	probably damaging	Het
Gabrg3	T	G	7: 56,729,641	N338H	probably damaging	Het
Gde1	A	G	7: 118,695,134	F39L	possibly damaging	Het
Gjb3	G	A	4: 127,326,431	R103W	probably damaging	Het
Gm4781	T	A	10: 100,396,720		noncoding transcript	Het
Gm4846	T	A	1: 166,483,923	T456S	probably benign	Het
Gm5415	T	G	1: 32,545,677	D384A	probably damaging	Het
Gpx5	A	G	13: 21,287,454	I193T	probably benign	Het
Herc2	A	T	7: 56,155,105	K2294*	probably null	Het
Hist1h3b	T	A	13: 23,752,732	V118D	probably damaging	Het
Iqgap3	T	A	3: 88,108,368	V19D	probably damaging	Het
Itga5	T	C	15: 103,346,014	I1006V	probably damaging	Het
Lamb1	C	T	12: 31,301,094	T781I	probably benign	Het
Lias	A	G	5: 65,392,343	T57A	probably benign	Het
Lin37	C	A	7: 30,556,943	R108L	probably damaging	Het
Lrrd1	A	T	5: 3,865,709	T769S	probably benign	Het
Mamstr	T	C	7: 45,644,963	W414R	probably damaging	Het
Mtmr11	T	G	3: 96,164,786	S233R	probably damaging	Het
Myh1	A	T	11: 67,204,822	I266F	probably damaging	Het
Myt1	C	A	2: 181,797,275	Q197K	probably benign	Het
Naip5	G	T	13: 100,219,687	T1140K	probably benign	Het
Ncf2	G	A	1: 152,808,071	V14M	probably damaging	Het
Nhsl1	G	T	10: 18,524,905	R626S	possibly damaging	Het
Nol12	T	A	15: 78,937,889	V108E	probably damaging	Het
Nr1i2	G	T	16: 38,249,282	P420Q	probably damaging	Het
Nup155	A	G	15: 8,154,980	I1286M	possibly damaging	Het
Ocrl	T	A	X: 47,962,116	I74N	probably damaging	Het
Olfr1257	A	C	2: 89,881,285	H153P	probably damaging	Het
Olfr64	A	G	7: 103,893,385	S117P	probably damaging	Het
Olfr993	A	G	2: 85,414,405	V158A	probably benign	Het
Pard3b	C	T	1: 62,637,604	S999L	probably benign	Het
Pax9	A	G	12: 56,700,054	E225G	probably benign	Het
Pdcd4	T	G	19: 53,926,219	L335R	probably damaging	Het
Pdgfra	T	A	5: 75,183,014	M732K	possibly damaging	Het
Pkhd1	G	T	1: 20,117,069	Q3672K	probably benign	Het
Pold2	A	G	11: 5,873,454	L325P	possibly damaging	Het
Pom121l2	A	T	13: 21,983,784	T742S	probably benign	Het
Ppfia1	C	T	7: 144,519,631	E208K	probably benign	Het
Prex2	A	T	1: 11,136,780	R521W	probably damaging	Het
Rhpn2	T	C	7: 35,372,388	L226P	probably benign	Het
Rps12	C	A	10: 23,785,629	D95Y	probably damaging	Het
Sars	T	C	3: 108,435,944	D77G	probably benign	Het
Scin	C	A	12: 40,124,698	V129F	probably damaging	Het
Sftpa1	T	A	14: 41,132,846	M66K	possibly damaging	Het
Sgo1	T	C	17: 53,687,771	K28E	probably damaging	Het
Sim2	G	T	16: 94,123,577		probably null	Het
Srp54b	T	A	12: 55,250,160		probably null	Het
Stard7	T	C	2: 127,295,560	V310A	probably benign	Het
Tasp1	T	C	2: 139,951,557	D233G	probably damaging	Het
Tdrd6	G	T	17: 43,625,589	L1523M	probably benign	Het
Tle3	A	G	9: 61,414,023	D639G	probably damaging	Het
Tmem128	A	G	5: 38,260,406	D2G	probably damaging	Het
Tmem163	A	G	1: 127,677,509	S41P	probably benign	Het
Ttn	C	T	2: 76,729,161	S29632N	probably damaging	Het
Tuba4a	A	G	1: 75,216,110	S287P	probably benign	Het
Ubn1	G	C	16: 5,077,391	G767A	probably benign	Het
Ugdh	A	T	5: 65,420,291	C288*	probably null	Het
Upf2	T	A	2: 6,050,324		probably null	Het
Vmn1r2	T	C	4: 3,172,836	S252P	probably damaging	Het
Vmn1r28	A	C	6: 58,265,252	T27P	probably damaging	Het
Vmn1r77	T	C	7: 12,041,411	I38T	probably benign	Het
Vmn2r51	C	A	7: 10,098,163	E499*	probably null	Het
Vmn2r51	G	T	7: 10,098,164	Y498*	probably null	Het
Vmn2r53	A	T	7: 12,600,885	W283R	probably damaging	Het
Vpreb1	T	A	16: 16,869,069	T15S	probably benign	Het
Vps13b	T	C	15: 35,910,232	S3381P	probably damaging	Het
Wnt2	A	T	6: 18,023,235	D138E	probably damaging	Het
Zdhhc22	A	G	12: 86,983,430	V248A	probably benign	Het
Zfp30	T	A	7: 29,793,380	I434N	probably damaging	Het
Zfp316	A	G	5: 143,253,423	L947P	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
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
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'- AGTGGTTATGCCCATGAGCTG -3'
(R):5'- CCTGAAGGCACCAGAGTTTTAAC -3'

Sequencing Primer
(F):5'- TAGATAACCCAGGTATCAGGTCCTG -3'
(R):5'- GGCACCAGAGTTTTAACCATTTGTC -3'

Posted On

2014-06-23