Mutagenetix > Incidental Mutation

Incidental Mutation 'R2046:Sardh'

221919

Institutional Source

Beutler Lab

Gene Symbol

Sardh

Ensembl Gene

ENSMUSG00000009614

Gene Name

sarcosine dehydrogenase

Synonyms

MMRRC Submission

040053-MU

Accession Numbers

Essential gene?

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

Stock #

R2046 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

27188393-27248337 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 27215082 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 676 (D676E)

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: D676E

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000099950
Gene: ENSMUSG00000009614
AA Change: D676E

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

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.0%

Validation Efficiency

97% (71/73)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930402H24Rik	T	A	2: 130,810,917	I42L	possibly damaging	Het
4930503L19Rik	T	A	18: 70,467,482	D84V	probably damaging	Het
Abcc5	A	T	16: 20,399,817	S272T	possibly damaging	Het
Adgre4	A	G	17: 55,778,847	N49D	possibly damaging	Het
Ap2b1	A	T	11: 83,336,386	Y328F	probably benign	Het
Arhgef33	G	C	17: 80,373,466	E678D	probably benign	Het
Arid2	G	A	15: 96,369,387	V583I	probably damaging	Het
Bdkrb1	T	A	12: 105,604,726	S184T	probably benign	Het
Bend3	T	C	10: 43,511,846	F745S	probably damaging	Het
Card10	A	T	15: 78,787,473	V597E	possibly damaging	Het
Casp3	T	A	8: 46,629,726		probably benign	Het
Ccnb2	A	G	9: 70,409,347	V340A	probably benign	Het
Cdkl3	G	T	11: 52,026,850	V325L	probably benign	Het
Clec4n	T	A	6: 123,246,504	N153K	probably benign	Het
Crtac1	C	T	19: 42,334,053	V83I	probably damaging	Het
Cul9	C	A	17: 46,543,733	L14F	probably damaging	Het
Dgka	T	C	10: 128,723,535	Y519C	probably damaging	Het
Dhrs7	T	G	12: 72,652,266	K314T	possibly damaging	Het
Dnah10	G	T	5: 124,796,341	K2542N	probably benign	Het
Dock5	A	T	14: 67,812,142	V731E	probably benign	Het
Dpy19l1	T	A	9: 24,423,159	H571L	probably damaging	Het
Dzip1	A	T	14: 118,922,478	I106N	probably damaging	Het
Eif2ak4	A	T	2: 118,451,408		probably benign	Het
Epha4	T	C	1: 77,507,162	Y70C	probably damaging	Het
Eps15	T	C	4: 109,370,596	F344S	probably damaging	Het
Erbb4	C	T	1: 68,298,323	R612Q	probably benign	Het
Fam83h	T	C	15: 76,002,938	H850R	probably benign	Het
Fancg	A	G	4: 43,004,604	C484R	probably damaging	Het
Fzd9	A	G	5: 135,249,684	I449T	probably damaging	Het
Gm10647	A	G	9: 66,798,237		probably benign	Het
Gm4951	T	A	18: 60,245,499	H35Q	probably benign	Het
Itga11	C	T	9: 62,727,697	L86F	probably damaging	Het
Lamc2	C	T	1: 153,141,765	R492H	probably benign	Het
March6	A	G	15: 31,486,434	V325A	probably benign	Het
Myo5b	A	T	18: 74,577,455	I47F	probably benign	Het
Nek9	T	A	12: 85,320,707		probably benign	Het
Nelfb	T	A	2: 25,206,311	N262I	probably damaging	Het
Neurl4	A	G	11: 69,908,697	D942G	probably damaging	Het
Nipbl	G	A	15: 8,324,467	P1729S	probably benign	Het
Nr4a3	A	G	4: 48,067,807	T468A	possibly damaging	Het
Nrm	G	A	17: 35,864,217	V146I	probably benign	Het
Olfr1099	C	A	2: 86,958,733	A242S	possibly damaging	Het
Pitx3	T	C	19: 46,137,179	E42G	possibly damaging	Het
Pkd1l2	C	T	8: 116,999,955	A2271T	probably damaging	Het
Pofut2	A	G	10: 77,260,594	N51S	probably damaging	Het
Ppp1r3a	T	C	6: 14,722,104	E273G	probably benign	Het
Psme4	A	G	11: 30,817,723		probably benign	Het
Pus7l	T	C	15: 94,540,785	I60V	probably benign	Het
Pygo2	T	A	3: 89,433,148	N284K	possibly damaging	Het
Ralgapa1	C	T	12: 55,695,160	C1368Y	probably damaging	Het
Rbm45	G	A	2: 76,375,398	G198E	probably benign	Het
Reln	T	C	5: 21,942,627	I2442V	probably benign	Het
Rmi1	T	C	13: 58,407,958	V7A	probably benign	Het
Rsf1	T	C	7: 97,661,677	L538P	probably benign	Het
Rsph4a	T	G	10: 33,914,543		probably benign	Het
Sh3tc2	A	G	18: 61,990,843	M892V	probably benign	Het
Slc38a11	A	G	2: 65,358,185	F80S	probably damaging	Het
Slc6a2	C	A	8: 92,972,926	S194*	probably null	Het
Slco2b1	A	G	7: 99,690,479	F86L	probably damaging	Het
Smc3	G	A	19: 53,639,414	D875N	probably benign	Het
Sp100	G	A	1: 85,709,065	E575K	possibly damaging	Het
Spns2	A	G	11: 72,459,040	L196P	possibly damaging	Het
Taf8	A	G	17: 47,490,276	S261P	probably benign	Het
Trim2	A	G	3: 84,208,289	L86P	probably damaging	Het
Ttn	C	A	2: 76,907,794	V4134F	probably benign	Het
Ush2a	A	G	1: 188,356,927	T360A	probably benign	Het
Usp28	T	A	9: 49,039,075	C935S	probably damaging	Het
Vps37d	T	A	5: 135,073,977	M134L	probably benign	Het
Vwa2	T	G	19: 56,905,578	V329G	probably benign	Het
Zfp110	A	G	7: 12,849,422	R666G	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
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'- TGTTCAGTCCCAATTAGGCAG -3'
(R):5'- CAGGAAGAGGCCCTTGATATTG -3'

Sequencing Primer
(F):5'- TCAGTCCCAATTAGGCAGAGTGTC -3'
(R):5'- GCAAGCTATACACTTTCCTCAGTGAG -3'

Posted On

2014-08-25