Mutagenetix > Incidental Mutations

Incidental Mutation 'PIT4791001:Sardh'

556952

Institutional Source

Beutler Lab

Gene Symbol

Sardh

Ensembl Gene

ENSMUSG00000009614

Gene Name

sarcosine dehydrogenase

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.122) question?

Stock #

PIT4791001 (G1)

Quality Score

107.008

Status

Not validated

Chromosome

Chromosomal Location

27188393-27248337 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 27197648 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 737 (E737G)

Ref Sequence

ENSEMBL: ENSMUSP00000099950 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000102886
AA Change: E737G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000099950
Gene: ENSMUSG00000009614
AA Change: E737G

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: 93.5%
3x: 90.8%
10x: 83.3%
20x: 68.6%

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5830411N06Rik	T	C	7: 140,274,062	F326S	possibly damaging	Het
Ago2	G	A	15: 73,121,240	T472I	possibly damaging	Het
Ambp	T	A	4: 63,154,061		probably benign	Het
As3mt	T	A	19: 46,720,349	F261I	probably damaging	Het
Atxn1l	A	G	8: 109,731,947	L561P	probably damaging	Het
Cnr2	A	G	4: 135,916,952	T114A	probably damaging	Het
Dchs1	A	G	7: 105,758,971	Y1885H	probably damaging	Het
Dcn	A	G	10: 97,507,742	N188S	probably benign	Het
Dennd6b	A	C	15: 89,186,752		probably null	Het
Dstyk	A	G	1: 132,449,927	T424A	probably benign	Het
Gabrr3	A	G	16: 59,429,935		probably null	Het
Gnai3	A	G	3: 108,118,305	S153P	probably benign	Het
Igkv2-112	T	A	6: 68,220,615	S90R	probably damaging	Het
Lxn	T	C	3: 67,458,646	D173G	probably damaging	Het
Mcm3ap	T	A	10: 76,506,473	I1600N	probably damaging	Het
Myof	A	T	19: 37,982,958		probably null	Het
Nrxn1	T	C	17: 90,455,503		probably benign	Het
Oaz3	A	G	3: 94,433,545	Y232H	unknown	Het
Olfr1107	A	T	2: 87,071,702	M144K	possibly damaging	Het
Pkdcc	C	T	17: 83,220,148	R252*	probably null	Het
Plcl1	A	G	1: 55,701,931	N907S	probably benign	Het
Plscr1	T	A	9: 92,263,097	Y53*	probably null	Het
Pm20d2	T	C	4: 33,174,756	T377A	probably benign	Het
Ptchd3	T	A	11: 121,832,049	V321D	probably damaging	Het
Ranbp3l	T	C	15: 9,060,748	I366T	probably damaging	Het
Scn1a	T	C	2: 66,273,282	E1878G	probably benign	Het
Slit3	T	C	11: 35,661,245	V872A	possibly damaging	Het
Sugp2	C	T	8: 70,260,545	Q1054*	probably null	Het
Syne3	T	C	12: 104,963,179	T261A	probably benign	Het
Tgif2	T	C	2: 156,853,312	S126P	probably benign	Het
Ticrr	T	C	7: 79,669,638	V457A	possibly damaging	Het
Tm7sf2	T	C	19: 6,063,605	I299V	probably benign	Het
Tnks1bp1	A	G	2: 85,062,558	E943G	probably benign	Het
Tpd52l2	T	A	2: 181,499,888	F21L	probably benign	Het
Tpm2	A	G	4: 43,519,263	L176P	probably benign	Het
Trim34a	C	A	7: 104,260,484	T293K	probably benign	Het
Ttc23	A	T	7: 67,662,387	D14V	probably damaging	Het
Twsg1	T	C	17: 65,929,711	E108G	probably benign	Het
Txndc15	C	T	13: 55,721,694	A220V	probably benign	Het
Vmn1r183	A	G	7: 24,054,841	Q23R	probably damaging	Het
Vmn1r31	A	G	6: 58,472,043	V279A	probably damaging	Het
Vmo1	A	C	11: 70,513,835	C113W	probably damaging	Het
Zfp984	A	G	4: 147,756,146	S83P	probably benign	Het
Zik1	A	C	7: 10,492,329	L37R	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
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
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'- TTGAGAAATTGCACAAGGCTG -3'
(R):5'- AGCTCAGCTTCTGTGAACAC -3'

Sequencing Primer
(F):5'- TCTAAACACCAGTGACAGGAGTG -3'
(R):5'- TTCTGTGAACACTCCTCAGAAAGTC -3'

Posted On

2019-06-07