Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01686:Sardh'

103969

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: 0.109) question?

Stock #

IGL01686

Quality Score

Status

Chromosome

Chromosomal Location

27078405-27138344 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 27079625 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 889 (Y889C)

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 damaging
Transcript: ENSMUST00000102886
AA Change: Y889C

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

SMART Domains

Protein: ENSMUSP00000099950
Gene: ENSMUSG00000009614
AA Change: Y889C

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: ENSMUST00000142136

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156434

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc9	A	G	6: 142,548,801 (GRCm39)	V1316A	possibly damaging	Het
Ada	T	G	2: 163,572,236 (GRCm39)	K254N	probably benign	Het
Adamts17	A	G	7: 66,490,037 (GRCm39)	R40G	probably benign	Het
Akr1d1	C	T	6: 37,507,178 (GRCm39)		probably benign	Het
Aldh1l1	T	A	6: 90,536,215 (GRCm39)		probably benign	Het
Bbox1	T	A	2: 110,095,831 (GRCm39)	I378F	probably benign	Het
BC028528	T	C	3: 95,796,212 (GRCm39)	N50S	probably damaging	Het
Casp8ap2	T	A	4: 32,641,294 (GRCm39)	S783T	possibly damaging	Het
Cmpk2	C	T	12: 26,527,177 (GRCm39)	R389W	probably damaging	Het
Cplx1	C	T	5: 108,696,393 (GRCm39)		probably null	Het
Crim1	T	C	17: 78,651,863 (GRCm39)	L529P	probably benign	Het
Ctps1	A	G	4: 120,411,183 (GRCm39)	S278P	probably benign	Het
Defb21	C	A	2: 152,416,821 (GRCm39)		probably benign	Het
Ecm1	T	A	3: 95,643,376 (GRCm39)	N308I	probably benign	Het
Flg2	T	C	3: 93,109,591 (GRCm39)	S540P	unknown	Het
Gabrp	G	T	11: 33,502,826 (GRCm39)	S346*	probably null	Het
Gli2	C	A	1: 118,776,165 (GRCm39)	C419F	probably damaging	Het
Grid2	T	A	6: 64,297,180 (GRCm39)	F514L	probably benign	Het
Hormad1	T	G	3: 95,485,580 (GRCm39)	M256R	probably benign	Het
Itsn2	T	G	12: 4,686,693 (GRCm39)		probably benign	Het
Klhl38	A	T	15: 58,186,707 (GRCm39)	D7E	probably benign	Het
Map3k1	G	A	13: 111,891,196 (GRCm39)	T1248I	possibly damaging	Het
Mki67	A	T	7: 135,309,542 (GRCm39)	V303E	probably benign	Het
Mterf4	A	T	1: 93,232,443 (GRCm39)	L136*	probably null	Het
Mtmr14	A	G	6: 113,217,391 (GRCm39)	D61G	possibly damaging	Het
Nf2	A	T	11: 4,768,613 (GRCm39)	D85E	probably benign	Het
Nmnat2	G	T	1: 152,952,743 (GRCm39)		probably benign	Het
Olfm3	T	A	3: 114,916,497 (GRCm39)	D476E	probably benign	Het
Or14c45	T	C	7: 86,175,986 (GRCm39)	V7A	probably benign	Het
Or8b53	T	A	9: 38,667,550 (GRCm39)	C189S	probably damaging	Het
Pdia6	T	C	12: 17,333,958 (GRCm39)		probably benign	Het
Prrg1	G	A	X: 77,527,388 (GRCm39)	A47V	probably damaging	Het
Rgs22	A	T	15: 36,103,981 (GRCm39)	I160K	probably benign	Het
Syne2	C	A	12: 75,956,110 (GRCm39)	D605E	probably benign	Het

Other mutations in Sardh

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01110:Sardh	APN	2	27,105,125 (GRCm39)	missense	probably benign	0.07
IGL01868:Sardh	APN	2	27,117,159 (GRCm39)	missense	probably benign	0.35
IGL02167:Sardh	APN	2	27,081,987 (GRCm39)	missense	probably damaging	0.98
IGL02272:Sardh	APN	2	27,115,003 (GRCm39)	missense	probably benign	0.00
IGL02870:Sardh	APN	2	27,125,503 (GRCm39)	missense	possibly damaging	0.93
IGL03117:Sardh	APN	2	27,129,458 (GRCm39)	missense	probably damaging	1.00
PIT4305001:Sardh	UTSW	2	27,118,326 (GRCm39)	missense	probably damaging	1.00
PIT4791001:Sardh	UTSW	2	27,087,660 (GRCm39)	missense	probably damaging	1.00
R0265:Sardh	UTSW	2	27,117,078 (GRCm39)	splice site	probably benign
R0781:Sardh	UTSW	2	27,081,931 (GRCm39)	missense	possibly damaging	0.82
R1110:Sardh	UTSW	2	27,081,931 (GRCm39)	missense	possibly damaging	0.82
R1242:Sardh	UTSW	2	27,125,575 (GRCm39)	missense	probably damaging	1.00
R1404:Sardh	UTSW	2	27,129,473 (GRCm39)	missense	probably damaging	1.00
R1404:Sardh	UTSW	2	27,129,473 (GRCm39)	missense	probably damaging	1.00
R1514:Sardh	UTSW	2	27,087,702 (GRCm39)	missense	possibly damaging	0.95
R1565:Sardh	UTSW	2	27,132,731 (GRCm39)	missense	probably damaging	1.00
R1832:Sardh	UTSW	2	27,125,581 (GRCm39)	missense	possibly damaging	0.95
R1836:Sardh	UTSW	2	27,105,194 (GRCm39)	missense	possibly damaging	0.65
R1997:Sardh	UTSW	2	27,134,409 (GRCm39)	missense	probably damaging	0.97
R2006:Sardh	UTSW	2	27,118,351 (GRCm39)	missense	probably damaging	1.00
R2046:Sardh	UTSW	2	27,105,094 (GRCm39)	missense	possibly damaging	0.95
R2242:Sardh	UTSW	2	27,125,527 (GRCm39)	missense	possibly damaging	0.93
R2897:Sardh	UTSW	2	27,079,559 (GRCm39)	missense	probably benign	0.00
R4332:Sardh	UTSW	2	27,105,126 (GRCm39)	missense	possibly damaging	0.85
R4807:Sardh	UTSW	2	27,079,539 (GRCm39)	missense	probably benign	0.00
R4841:Sardh	UTSW	2	27,081,967 (GRCm39)	missense	probably benign	0.09
R4842:Sardh	UTSW	2	27,081,967 (GRCm39)	missense	probably benign	0.09
R4856:Sardh	UTSW	2	27,134,489 (GRCm39)	missense	probably benign	0.02
R4936:Sardh	UTSW	2	27,118,253 (GRCm39)	splice site	probably null
R5089:Sardh	UTSW	2	27,129,625 (GRCm39)	critical splice donor site	probably null
R5110:Sardh	UTSW	2	27,079,559 (GRCm39)	missense	probably benign	0.00
R5257:Sardh	UTSW	2	27,134,271 (GRCm39)	missense	probably damaging	0.98
R5406:Sardh	UTSW	2	27,101,096 (GRCm39)	missense	possibly damaging	0.72
R5450:Sardh	UTSW	2	27,129,710 (GRCm39)	missense	possibly damaging	0.65
R5594:Sardh	UTSW	2	27,110,735 (GRCm39)	missense	probably damaging	1.00
R5870:Sardh	UTSW	2	27,110,653 (GRCm39)	critical splice donor site	probably null
R6014:Sardh	UTSW	2	27,087,540 (GRCm39)	critical splice donor site	probably null
R6021:Sardh	UTSW	2	27,079,655 (GRCm39)	missense	probably benign	0.44
R6470:Sardh	UTSW	2	27,134,384 (GRCm39)	missense	probably damaging	1.00
R6577:Sardh	UTSW	2	27,108,867 (GRCm39)	missense	possibly damaging	0.95
R6750:Sardh	UTSW	2	27,118,269 (GRCm39)	missense	probably benign	0.04
R7035:Sardh	UTSW	2	27,120,854 (GRCm39)	missense	probably damaging	1.00
R7162:Sardh	UTSW	2	27,087,702 (GRCm39)	missense	possibly damaging	0.95
R7256:Sardh	UTSW	2	27,108,824 (GRCm39)	missense	probably benign
R7692:Sardh	UTSW	2	27,087,651 (GRCm39)	missense	probably benign	0.01
R7709:Sardh	UTSW	2	27,131,529 (GRCm39)	missense	possibly damaging	0.62
R7884:Sardh	UTSW	2	27,129,383 (GRCm39)	missense	probably damaging	0.99
R8028:Sardh	UTSW	2	27,120,467 (GRCm39)	missense	probably damaging	1.00
R8095:Sardh	UTSW	2	27,132,730 (GRCm39)	missense	probably damaging	1.00
R8120:Sardh	UTSW	2	27,108,863 (GRCm39)	missense	possibly damaging	0.62
R8302:Sardh	UTSW	2	27,105,122 (GRCm39)	missense	probably benign	0.03
R8323:Sardh	UTSW	2	27,125,576 (GRCm39)	missense	probably damaging	1.00
R8535:Sardh	UTSW	2	27,129,657 (GRCm39)	missense	probably damaging	1.00
R8704:Sardh	UTSW	2	27,120,477 (GRCm39)	missense	possibly damaging	0.50
R8781:Sardh	UTSW	2	27,086,715 (GRCm39)	missense	possibly damaging	0.95
R8858:Sardh	UTSW	2	27,118,302 (GRCm39)	missense	probably null	1.00
R9265:Sardh	UTSW	2	27,105,065 (GRCm39)	missense	probably damaging	0.99
R9337:Sardh	UTSW	2	27,086,678 (GRCm39)	missense	probably benign	0.11
R9342:Sardh	UTSW	2	27,120,869 (GRCm39)	missense	possibly damaging	0.95
R9539:Sardh	UTSW	2	27,134,298 (GRCm39)	missense	probably damaging	0.99
R9600:Sardh	UTSW	2	27,120,513 (GRCm39)	missense	probably benign
R9714:Sardh	UTSW	2	27,079,641 (GRCm39)	missense	possibly damaging	0.64
X0011:Sardh	UTSW	2	27,132,758 (GRCm39)	missense	probably damaging	1.00
Z1176:Sardh	UTSW	2	27,108,902 (GRCm39)	missense	possibly damaging	0.52
Z1176:Sardh	UTSW	2	27,108,846 (GRCm39)	missense	possibly damaging	0.88
Z1176:Sardh	UTSW	2	27,086,685 (GRCm39)	missense	probably benign	0.08
Z1177:Sardh	UTSW	2	27,125,525 (GRCm39)	missense	probably damaging	1.00

Posted On

2014-01-21