Mutagenetix > Incidental Mutation

Incidental Mutation 'R5089:Sardh'

387616

Institutional Source

Beutler Lab

Gene Symbol

Sardh

Ensembl Gene

ENSMUSG00000009614

Gene Name

sarcosine dehydrogenase

Synonyms

MMRRC Submission

042678-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.091) question?

Stock #

R5089 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

27188393-27248337 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 27239613 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000099950 (fasta)

Gene Model

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

AlphaFold

Q99LB7

Predicted Effect

probably null
Transcript: ENSMUST00000102886

SMART Domains

Protein: ENSMUSP00000099950
Gene: ENSMUSG00000009614

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 null
Transcript: ENSMUST00000102886

SMART Domains

Protein: ENSMUSP00000099950
Gene: ENSMUSG00000009614

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000170435

Meta Mutation Damage Score

0.9488

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.0%
20x: 91.3%

Validation Efficiency

98% (65/66)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700019N19Rik	A	T	19: 58,786,246	L176H	probably damaging	Het
1700030J22Rik	T	C	8: 116,971,933	N145S	possibly damaging	Het
4932438A13Rik	T	A	3: 36,987,502	D2676E	probably benign	Het
A230050P20Rik	A	T	9: 20,868,916	M1L	probably benign	Het
Acp2	T	C	2: 91,211,922		probably benign	Het
Adgrf2	G	A	17: 42,710,097	A612V	probably benign	Het
Cct3	T	G	3: 88,300,843	M46R	probably damaging	Het
Cdc123	T	C	2: 5,805,000	D200G	probably benign	Het
Cdh9	T	A	15: 16,778,276	F59Y	probably damaging	Het
Cluh	A	G	11: 74,660,372	E349G	probably damaging	Het
Col16a1	C	T	4: 130,079,195	T643M	probably benign	Het
Col5a1	G	A	2: 28,018,602	W67*	probably null	Het
Crbn	T	C	6: 106,781,718	H381R	possibly damaging	Het
Crim1	A	G	17: 78,374,090	D991G	probably damaging	Het
Dhx16	A	T	17: 35,884,089	M503L	probably damaging	Het
Dthd1	A	G	5: 62,849,905	T650A	probably benign	Het
Etfa	T	A	9: 55,488,866	K139*	probably null	Het
Flnc	T	C	6: 29,447,813	I1205T	probably damaging	Het
Fzd6	T	A	15: 39,007,480	C32S	probably damaging	Het
Gm1110	T	A	9: 26,882,387	D515V	probably damaging	Het
Gm7676	T	C	8: 13,896,401		noncoding transcript	Het
Gpr157	T	C	4: 150,102,293	S293P	possibly damaging	Het
Hc	T	C	2: 35,024,890	D810G	probably benign	Het
Helz2	T	C	2: 181,235,149	H1184R	probably benign	Het
Hoxc5	A	T	15: 103,014,055		probably benign	Het
Iah1	C	T	12: 21,323,308	S196L	possibly damaging	Het
Il5	C	T	11: 53,721,828	T55I	possibly damaging	Het
Kras	T	C	6: 145,225,143	K169E	probably benign	Het
Larp1	C	A	11: 58,047,867	T492K	possibly damaging	Het
Lgr5	T	C	10: 115,478,423	D203G	probably damaging	Het
Lpcat2	G	A	8: 92,879,443	V241M	probably damaging	Het
Mpeg1	G	A	19: 12,462,997	M606I	probably benign	Het
Ms4a1	G	A	19: 11,258,812	P4S	probably benign	Het
Nat10	A	T	2: 103,757,143		probably benign	Het
Ncaph2	T	A	15: 89,355,945		probably null	Het
Nfat5	T	A	8: 107,351,438	V403D	probably damaging	Het
Olfr1214	A	G	2: 88,988,172	F10S	probably damaging	Het
Olfr1380	T	A	11: 49,564,413	M164K	possibly damaging	Het
Pax7	T	C	4: 139,830,265	H65R	probably damaging	Het
Phf20	C	A	2: 156,302,862	H797N	probably benign	Het
Pkhd1l1	T	A	15: 44,591,887	S4015T	probably benign	Het
Prdm5	C	T	6: 65,856,090	H148Y	probably benign	Het
Prpf8	A	G	11: 75,509,228		probably null	Het
Rangap1	A	C	15: 81,710,463	D388E	probably benign	Het
Serpinb6b	G	A	13: 32,978,150	E192K	probably benign	Het
Skor1	A	G	9: 63,145,923	S216P	probably damaging	Het
Slc51a	A	G	16: 32,477,546		probably null	Het
Smarcb1	T	C	10: 75,915,179	T74A	probably benign	Het
Spg11	A	T	2: 122,114,717	Y107*	probably null	Het
Stk25	T	A	1: 93,624,608	K350M	probably benign	Het
Syne1	C	T	10: 5,405,444	W379*	probably null	Het
Taco1	A	T	11: 106,069,611	E126V	probably benign	Het
Tbc1d12	T	A	19: 38,916,788	L649*	probably null	Het
Trpm3	G	A	19: 22,766,756	G238R	probably damaging	Het
Yy1	C	A	12: 108,793,737	Q109K	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
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

Predicted Primers

PCR Primer
(F):5'- TTACCTGGATCCCCTCGATG -3'
(R):5'- AGAGCCCCACATGGTTAAGG -3'

Sequencing Primer
(F):5'- CTCAGTGACGACGTAAGCATG -3'
(R):5'- CCCACATGGTTAAGGTGCAG -3'

Posted On

2016-06-06