Mutagenetix > Incidental Mutations

Incidental Mutation 'R7884:Sardh'

608928

Institutional Source

Beutler Lab

Gene Symbol

Sardh

Ensembl Gene

ENSMUSG00000009614

Gene Name

sarcosine dehydrogenase

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.090) question?

Stock #

R7884 (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 27239371 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 305 (I305T)

Ref Sequence

ENSEMBL: ENSMUSP00000099950 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000102886
AA Change: I305T

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000099950
Gene: ENSMUSG00000009614
AA Change: I305T

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

probably benign
Transcript: ENSMUST00000139312

SMART Domains

Protein: ENSMUSP00000119866
Gene: ENSMUSG00000009614

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

Predicted Effect

probably benign
Transcript: ENSMUST00000149733

SMART Domains

Protein: ENSMUSP00000120478
Gene: ENSMUSG00000009614

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: 99.0%

Validation Efficiency

100% (61/61)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap31	T	C	16: 38,602,231	T1158A	probably damaging	Het
Arhgap32	A	G	9: 32,260,514	E1530G	possibly damaging	Het
BC005561	T	C	5: 104,521,346	S1245P	possibly damaging	Het
C3	A	G	17: 57,226,264	F113S	probably benign	Het
Ccng2	C	G	5: 93,273,343	S237R	probably benign	Het
Csmd1	T	C	8: 15,961,418	N2545S	probably damaging	Het
Ctsh	A	G	9: 90,061,423	D49G	probably benign	Het
Cyp7a1	T	A	4: 6,272,697	Y172F	probably benign	Het
Ddx52	A	G	11: 83,952,085		probably null	Het
Dmxl1	A	G	18: 49,893,407	T1861A	possibly damaging	Het
Dnah7c	C	T	1: 46,791,769	L3813F	probably benign	Het
Efl1	A	G	7: 82,658,099	I68V	probably damaging	Het
Etnk2	T	C	1: 133,365,700	V127A	possibly damaging	Het
Fank1	G	C	7: 133,876,825	R206P	probably damaging	Het
Fbxw27	G	A	9: 109,789,400	R73*	probably null	Het
Fndc1	A	T	17: 7,773,197	S556T	unknown	Het
Gnb3	T	C	6: 124,837,092	T178A	probably benign	Het
H2-M10.3	A	T	17: 36,366,282	L326Q	probably benign	Het
Hist1h2bk	T	C	13: 22,036,055	S57P	probably damaging	Het
Idh2	GGTCCCAG	GG	7: 80,098,329		probably benign	Het
Itfg2	T	C	6: 128,416,381		probably benign	Het
Kcnma1	G	A	14: 23,336,989	P995L	probably benign	Het
Lama1	G	A	17: 67,769,435	G1068D		Het
Lats1	A	T	10: 7,697,526	K125*	probably null	Het
Lipg	C	T	18: 74,948,007	M334I	probably damaging	Het
Loxhd1	A	T	18: 77,431,213	E1905V	probably damaging	Het
Lpin1	C	T	12: 16,562,369	G544D		Het
Lrrc29	A	G	8: 105,315,533	I221T	probably benign	Het
Lyst	A	T	13: 13,707,683	N2853I	probably benign	Het
Mars	A	G	10: 127,300,245	I525T	probably damaging	Het
Miga2	T	A	2: 30,371,204	D170E	probably benign	Het
Mrpl34	T	C	8: 71,465,267	V28A	probably benign	Het
Muc16	A	T	9: 18,642,694	V4101E	unknown	Het
Muc5ac	G	C	7: 141,809,303	G2117A	unknown	Het
Myo1f	A	G	17: 33,598,296	Y771C	probably damaging	Het
Nr2f1	G	A	13: 78,189,869	T376I	probably benign	Het
Nsd1	A	G	13: 55,313,255	T2535A	probably damaging	Het
Nup98	T	A	7: 102,176,349	T428S	probably benign	Het
Omd	A	G	13: 49,590,154	M227V	probably damaging	Het
Osbpl7	A	C	11: 97,060,457	I657L	possibly damaging	Het
Pdgfrb	T	C	18: 61,072,658	V572A	probably damaging	Het
Pik3c3	T	C	18: 30,312,571	V537A	probably benign	Het
Pou2f2	T	C	7: 25,116,064	M93V	probably benign	Het
Ppip5k2	T	C	1: 97,740,482	T640A	probably benign	Het
Ptar1	C	T	19: 23,708,794	P157S	probably benign	Het
Rapgef2	T	A	3: 79,066,626	D1471V	possibly damaging	Het
Rgs7	A	T	1: 175,149,650		probably null	Het
Rhag	A	G	17: 40,831,645	Y247C	probably benign	Het
Scn11a	A	G	9: 119,804,551	I372T	probably benign	Het
Scn3a	G	T	2: 65,536,515	D54E	probably damaging	Het
Senp2	A	G	16: 22,014,231	T90A	probably benign	Het
Serpinh1	C	T	7: 99,349,288	R45H	probably benign	Het
Siglecg	T	C	7: 43,409,279	V152A	probably benign	Het
Sipa1l2	T	A	8: 125,447,598	M1314L	probably benign	Het
Slc23a1	A	G	18: 35,625,949	F63S	possibly damaging	Het
Slc25a40	T	A	5: 8,442,509	L133Q	probably damaging	Het
Slc6a16	A	G	7: 45,259,347	E117G	probably damaging	Het
Tmem235	G	A	11: 117,864,207	V162M	probably benign	Het
Trank1	A	G	9: 111,392,516	T2774A	probably benign	Het
Trav10n	A	T	14: 53,122,130	H6L	probably benign	Het
Trav13d-3	G	A	14: 53,033,247	W55*	probably null	Het
Zfp654	G	T	16: 64,851,648	A2E	probably damaging	Het
Zkscan5	A	C	5: 145,220,866	H726P	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
R7709:Sardh	UTSW	2	27241517	missense	possibly damaging	0.62
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
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'- TTCAAAGAGAAGCCAGGCC -3'
(R):5'- TCAGGTCCTACCCACAAAGG -3'

Sequencing Primer
(F):5'- CCTGGTGACCAAAGTAGCCTG -3'
(R):5'- AAGGACGCCTTTCTTGGG -3'

Posted On

2019-12-20