Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01868:Sardh'

178597

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Sardh

Ensembl Gene

ENSMUSG00000009614

Gene Name

sarcosine dehydrogenase

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.064) question?

Stock #

IGL01868

Quality Score

Status

Chromosome

Chromosomal Location

27188393-27248337 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 27227147 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Proline at position 496 (Q496P)

Ref Sequence

ENSEMBL: ENSMUSP00000099950 (fasta)

Gene Model

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

AlphaFold

Q99LB7

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000091224

Predicted Effect

probably benign
Transcript: ENSMUST00000102886
AA Change: Q496P

PolyPhen 2 Score 0.349 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000099950
Gene: ENSMUSG00000009614
AA Change: Q496P

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: ENSMUST00000144448

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000170435

Coding Region Coverage

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afg3l2	G	A	18: 67,414,148	T569M	possibly damaging	Het
Aldh1l1	A	T	6: 90,583,230	K620*	probably null	Het
Amdhd2	G	T	17: 24,157,530	T346K	probably damaging	Het
Arhgap44	T	C	11: 65,012,078	D521G	probably damaging	Het
Ccdc146	C	A	5: 21,333,054	A91S	probably damaging	Het
Ccdc187	C	A	2: 26,280,948	R506L	probably benign	Het
Cd37	T	C	7: 45,236,179	Q128R	probably benign	Het
Cdh22	T	A	2: 165,157,358	M185L	probably damaging	Het
Cib2	A	T	9: 54,548,475	N68K	probably damaging	Het
Ddx46	C	T	13: 55,639,870	R96*	probably null	Het
Dnajc13	A	T	9: 104,162,745	H2050Q	possibly damaging	Het
Duox1	A	G	2: 122,338,407	H1172R	probably benign	Het
Eftud2	C	T	11: 102,869,127	V132I	probably benign	Het
Fcrl5	G	A	3: 87,443,707	D87N	possibly damaging	Het
Gm10718	A	T	9: 3,025,118	Y194F	probably benign	Het
Gm14548	G	A	7: 3,897,175	Q143*	probably null	Het
Gm5862	A	C	5: 26,022,771	W41G	probably benign	Het
Kat6a	T	C	8: 22,926,455	F660L	probably damaging	Het
Lipo2	T	C	19: 33,730,838	M259V	probably benign	Het
Lrrcc1	T	A	3: 14,554,357	L90*	probably null	Het
Lsm1	G	A	8: 25,793,793		probably null	Het
Luzp1	T	C	4: 136,542,737	I757T	probably damaging	Het
Micall1	A	G	15: 79,115,060	I76V	probably benign	Het
Mmp21	A	T	7: 133,675,914	D394E	probably damaging	Het
Mtfr1l	T	C	4: 134,530,707	D68G	probably null	Het
Necab2	A	G	8: 119,462,576	S162G	probably benign	Het
Olfr1186	T	C	2: 88,525,715	V44A	possibly damaging	Het
Olfr429	C	T	1: 174,089,370	T110I	possibly damaging	Het
Olfr64	G	A	7: 103,893,376	R120*	probably null	Het
Olfr96	A	T	17: 37,225,152	Q9L	probably benign	Het
Pde7b	A	T	10: 20,407,165	C376*	probably null	Het
Plcb2	A	G	2: 118,709,590	L1074P	probably damaging	Het
Plcb2	G	T	2: 118,711,387	T914N	probably benign	Het
Prph	C	A	15: 99,056,343	D207E	probably damaging	Het
Prrxl1	C	A	14: 32,608,377	F150L	probably damaging	Het
Rbp4	C	A	19: 38,124,520	R37L	probably damaging	Het
Ryr3	T	C	2: 112,803,158		probably benign	Het
Serpina1f	T	A	12: 103,693,445	N193Y	probably benign	Het
Slc10a7	G	A	8: 78,697,336		probably null	Het
Spg7	T	C	8: 123,090,236		probably null	Het
Sphkap	T	C	1: 83,280,399		probably null	Het
Tas2r121	T	A	6: 132,700,272	I246L	probably benign	Het
Tbc1d9b	T	C	11: 50,161,633	F889S	probably damaging	Het
Tcp10a	T	C	17: 7,329,864	M140T	possibly damaging	Het
Tctn2	G	A	5: 124,616,528		noncoding transcript	Het
Tfap2b	G	T	1: 19,214,282	R138L	probably damaging	Het
Tnrc18	T	C	5: 142,771,812	T985A	unknown	Het
Treml1	G	A	17: 48,366,007	V211I	probably benign	Het
Ubr4	C	T	4: 139,412,678	Q1191*	probably null	Het
Vim	G	A	2: 13,578,438	R217H	possibly damaging	Het
Vmn2r77	A	G	7: 86,803,016	D468G	probably benign	Het
Vmn2r98	G	T	17: 19,066,286	V349F	probably benign	Het
Vmn2r-ps159	C	T	4: 156,338,254		noncoding transcript	Het
Vwa7	A	T	17: 35,021,259	E401V	probably null	Het
Zfp119b	C	A	17: 55,939,866	V75L	possibly damaging	Het
Zfp287	C	T	11: 62,715,257	E275K	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
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
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

Posted On

2014-05-07