Mutagenetix > Incidental Mutation

Incidental Mutation 'R9342:Sardh'

707531

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 #

R9342 (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 C at 27230857 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 385 (E385G)

Ref Sequence

ENSEMBL: ENSMUSP00000099950 (fasta)

Gene Model

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

AlphaFold

Q99LB7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000102886
AA Change: E385G

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000099950
Gene: ENSMUSG00000009614
AA Change: E385G

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: 100.0%
10x: 99.7%
20x: 99.1%

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700025F22Rik	T	A	19: 11,142,411	T52S	possibly damaging	Het
A330070K13Rik	T	C	5: 130,379,035	I112V	unknown	Het
Aars2	A	G	17: 45,507,076	N75D	possibly damaging	Het
Abcf2	G	A	5: 24,573,477	R228C	probably benign	Het
Agfg2	A	G	5: 137,653,852	L415P	probably benign	Het
Alpi	A	G	1: 87,098,664	L535P	unknown	Het
Anxa9	T	G	3: 95,303,048	T69P	probably damaging	Het
Arrb2	T	A	11: 70,436,637	D79E	probably benign	Het
Bcat1	A	G	6: 145,048,606	V55A	probably benign	Het
Cacna1c	A	G	6: 119,057,374	L64P		Het
Cd247	A	T	1: 165,855,190	D28V	probably damaging	Het
Celsr2	T	A	3: 108,413,126	N790I	probably damaging	Het
Clrn1	C	T	3: 58,884,830	V71I	probably benign	Het
Cmtr2	T	C	8: 110,222,446	Y463H	possibly damaging	Het
Col6a6	T	C	9: 105,785,973	T122A	probably benign	Het
Cubn	T	A	2: 13,458,956	D646V	probably damaging	Het
Dab2ip	T	A	2: 35,723,093	L1062Q	possibly damaging	Het
Dnajb4	T	C	3: 152,186,635	N187S	probably benign	Het
Dock10	A	T	1: 80,592,643	F365L	probably benign	Het
Erich6	G	A	3: 58,626,680	Q309*	probably null	Het
Ext1	T	C	15: 53,345,128	H79R	probably benign	Het
Fam155a	C	A	8: 9,771,006	A5S	probably damaging	Het
Fam187b	T	A	7: 30,977,760	C231*	probably null	Het
Fbxo15	T	A	18: 84,965,484	M319K	unknown	Het
Fbxo18	T	C	2: 11,749,603	I775V	probably benign	Het
Fbxo9	A	T	9: 78,095,238	M187K	possibly damaging	Het
Fer1l4	T	C	2: 156,035,276	D1113G	probably benign	Het
Fsip2	A	T	2: 82,988,403	T4827S	possibly damaging	Het
Gm49398	A	T	13: 61,287,664	L7Q	probably damaging	Het
H2-M10.4	A	T	17: 36,460,393	W298R	probably damaging	Het
Hoxd10	A	G	2: 74,692,638	E220G	probably benign	Het
Hrh2	T	G	13: 54,214,203	L66R	probably damaging	Het
Igf1r	A	G	7: 68,194,998	T840A	probably benign	Het
Iqca	A	G	1: 90,144,966	V64A	probably damaging	Het
Klc2	A	G	19: 5,108,631	S612P	probably benign	Het
Klf15	A	G	6: 90,466,869	E142G	probably damaging	Het
Krt40	T	A	11: 99,538,753	T332S	probably damaging	Het
Lrrc9	T	C	12: 72,459,993	F348S	probably damaging	Het
Lrrn4	T	C	2: 132,870,370	D511G	probably benign	Het
Lrtm2	T	C	6: 119,320,973	I36V	probably benign	Het
Lsm10	T	C	4: 126,098,067	L72P	probably damaging	Het
Mab21l3	T	A	3: 101,835,203	S14C	possibly damaging	Het
Map2k4	T	C	11: 65,690,743	K381R	probably benign	Het
Mcidas	A	G	13: 112,994,381	D80G	probably damaging	Het
Med23	A	G	10: 24,874,571	M99V	probably benign	Het
Mga	A	G	2: 119,948,175	D2067G	probably benign	Het
Msc	G	T	1: 14,755,483	P89Q	probably benign	Het
Olfr1086	A	T	2: 86,677,150	L61Q	probably damaging	Het
Olfr301	A	G	7: 86,413,222	I287V	probably benign	Het
Olfr709-ps1	A	T	7: 106,927,357	I34N	possibly damaging	Het
Plekhg6	T	C	6: 125,363,060	D779G	probably damaging	Het
Pnpla2	C	A	7: 141,455,418	Y44*	probably null	Het
Ppp1r17	T	A	6: 56,026,539	D112E	probably damaging	Het
Prdm2	A	G	4: 143,134,908	I604T	probably damaging	Het
Prkce	A	G	17: 86,474,449	Y182C	probably damaging	Het
Prokr2	G	A	2: 132,340,870	S189F	possibly damaging	Het
Qser1	A	T	2: 104,787,819	S793T	probably benign	Het
Reck	T	C	4: 43,943,301	F951S	probably benign	Het
Rev3l	T	C	10: 39,821,462	S652P	probably benign	Het
Rtl1	A	C	12: 109,592,450	L985R	probably damaging	Het
Sfmbt1	G	T	14: 30,797,642	W440L	possibly damaging	Het
Slc4a7	T	A	14: 14,772,541	C683*	probably null	Het
Slc51a	A	G	16: 32,479,699	L80P	possibly damaging	Het
Slco3a1	C	A	7: 74,504,289	L178F	probably damaging	Het
Spata6	T	A	4: 111,779,192	C227S	possibly damaging	Het
Tbc1d30	A	T	10: 121,267,461	Y555*	probably null	Het
Tcf7l2	A	G	19: 55,743,085	Q90R	probably benign	Het
Tff3	A	C	17: 31,127,449	S50A	probably benign	Het
Tnrc6c	T	C	11: 117,739,894	M1027T	probably benign	Het
Ttc12	A	G	9: 49,440,380	F606L	probably benign	Het
Uqcc3	G	A	19: 8,880,726	Q34*	probably null	Het
Veph1	T	A	3: 66,244,538	I157F	probably damaging	Het
Vmn2r14	G	A	5: 109,220,562	T188I	probably damaging	Het
Vmn2r67	A	G	7: 85,136,580	I739T	probably benign	Het
Vmn2r68	A	G	7: 85,233,785	F253S	probably benign	Het
Vmn2r74	T	C	7: 85,957,416	I241V	probably benign	Het
Vmn2r97	A	G	17: 18,929,106	E252G	probably benign	Het
Vps13b	T	C	15: 35,455,054	V703A	possibly damaging	Het
Vps25	T	A	11: 101,258,797	L149Q	probably damaging	Het
Xirp1	T	C	9: 120,016,884	T978A	probably benign	Het
Xpnpep1	T	A	19: 53,004,817	I360F	probably benign	Het
Zfpm1	C	T	8: 122,334,569	T291M	probably benign	Het
Zkscan8	A	G	13: 21,526,532	V136A	probably benign	Het
Zscan18	A	G	7: 12,771,685	Y592H	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
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
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'- ACTTGCCTTCTAGCAGGGTTG -3'
(R):5'- TGGGGTAGACCTGGTTAGAAC -3'

Sequencing Primer
(F):5'- GCACTCTGCACCACACACAG -3'
(R):5'- CCTGGTTAGAACATAGGTCAAGTGC -3'

Posted On

2022-04-18