Mutagenetix > Incidental Mutation

Incidental Mutation 'R8535:Sardh'

659190

Institutional Source

Beutler Lab

Gene Symbol

Sardh

Ensembl Gene

ENSMUSG00000009614

Gene Name

sarcosine dehydrogenase

Synonyms

MMRRC Submission

068504-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.100) question?

Stock #

R8535 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

27078405-27138344 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 27129657 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 263 (I263F)

Ref Sequence

ENSEMBL: ENSMUSP00000099950 (fasta)

Gene Model

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

AlphaFold

Q99LB7

Predicted Effect

probably damaging
Transcript: ENSMUST00000102886
AA Change: I263F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000099950
Gene: ENSMUSG00000009614
AA Change: I263F

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

Meta Mutation Damage Score

0.7492

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (34/34)

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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl6	A	T	11: 54,229,328 (GRCm39)	I362F	probably damaging	Het
Anks1b	T	A	10: 90,784,493 (GRCm39)	S1154T	probably benign	Het
Bsn	G	A	9: 107,988,651 (GRCm39)	A2367V	probably benign	Het
Chd7	T	A	4: 8,859,211 (GRCm39)	S2434T	possibly damaging	Het
Crybg2	T	C	4: 133,808,514 (GRCm39)	S1372P	probably damaging	Het
Dock5	A	G	14: 68,031,425 (GRCm39)	Y1002H	probably benign	Het
Dst	T	C	1: 34,225,082 (GRCm39)	S1163P	probably damaging	Het
Fah	A	T	7: 84,250,305 (GRCm39)	S14T	probably benign	Het
Gcnt7	T	C	2: 172,296,466 (GRCm39)	I119M	possibly damaging	Het
Gja10	G	A	4: 32,602,274 (GRCm39)	L37F	probably damaging	Het
Gm10750	A	G	2: 148,857,888 (GRCm39)	V121A	unknown	Het
Klhl25	G	A	7: 75,515,843 (GRCm39)	V250I	probably benign	Het
Kmt2a	A	C	9: 44,730,812 (GRCm39)	S200R	possibly damaging	Het
Map1b	T	A	13: 99,571,662 (GRCm39)	D353V	probably damaging	Het
Myh8	G	A	11: 67,169,741 (GRCm39)	R20Q	probably damaging	Het
Or4c127	G	A	2: 89,833,511 (GRCm39)	V254M	probably benign	Het
Or6c200-ps1	T	C	10: 128,869,892 (GRCm39)	Y273C	probably damaging	Het
Pcnt	G	A	10: 76,256,039 (GRCm39)	R734W	probably damaging	Het
Pkn3	A	T	2: 29,969,936 (GRCm39)		probably null	Het
Ptpn21	T	A	12: 98,646,285 (GRCm39)	T1058S	probably damaging	Het
Ryr3	A	G	2: 112,779,433 (GRCm39)		probably null	Het
Scart1	G	A	7: 139,804,634 (GRCm39)	V546M	probably benign	Het
Sh3bp5	A	G	14: 31,139,375 (GRCm39)	V66A	probably benign	Het
Styxl2	T	C	1: 165,928,730 (GRCm39)	D294G	probably benign	Het
Taf4b	T	A	18: 14,955,195 (GRCm39)	S583T	probably damaging	Het
Tbcb	G	A	7: 29,926,421 (GRCm39)	P132L	probably benign	Het
Tcirg1	A	G	19: 3,946,324 (GRCm39)	I791T	probably damaging	Het
Tmeff2	T	A	1: 51,220,985 (GRCm39)	V320D	probably damaging	Het
Tnfrsf19	T	C	14: 61,208,417 (GRCm39)	E368G	probably benign	Het
Trdv2-1	T	A	14: 54,183,972 (GRCm39)	I67N	probably damaging	Het
Unc13c	G	A	9: 73,447,653 (GRCm39)	T1849I	probably benign	Het
Vav2	G	A	2: 27,161,841 (GRCm39)	T655I	probably damaging	Het
Vps50	T	C	6: 3,565,612 (GRCm39)	Y517H	possibly damaging	Het
Wdr27	G	A	17: 15,123,799 (GRCm39)	T558I	possibly damaging	Het
Yeats2	C	T	16: 19,977,926 (GRCm39)	R137W	probably damaging	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
IGL01686:Sardh	APN	2	27,079,625 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- ACACTCCTGGAGGCAGAATG -3'
(R):5'- TTCTCTGGCCAAATGAATCAGG -3'

Sequencing Primer
(F):5'- TGGAGAACACTCAGCTGCC -3'
(R):5'- AGAAGCAGTATCCTCTGGTCC -3'

Posted On

2021-01-18