Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02870:Sardh'

362552

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: 0.100) question?

Stock #

IGL02870

Quality Score

Status

Chromosome

Chromosomal Location

27078405-27138344 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 27125503 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 337 (I337N)

Ref Sequence

ENSEMBL: ENSMUSP00000099950 (fasta)

Gene Model

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

AlphaFold

Q99LB7

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000091224

Predicted Effect

possibly damaging
Transcript: ENSMUST00000102886
AA Change: I337N

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000099950
Gene: ENSMUSG00000009614
AA Change: I337N

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: 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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	C	T	13: 81,711,851 (GRCm39)	V1042M	probably benign	Het
Agmat	C	A	4: 141,474,253 (GRCm39)	H45N	probably benign	Het
Akap13	T	A	7: 75,258,936 (GRCm39)	V520D	probably damaging	Het
Ccser1	T	A	6: 61,288,276 (GRCm39)	N146K	probably damaging	Het
Cdhr4	T	A	9: 107,875,263 (GRCm39)		probably null	Het
Col4a1	G	A	8: 11,271,375 (GRCm39)	T753I	probably benign	Het
Cyp3a59	T	C	5: 146,034,994 (GRCm39)	I224T	probably benign	Het
Ddx19a	G	T	8: 111,710,258 (GRCm39)	P114Q	probably damaging	Het
Eftud2	A	G	11: 102,753,452 (GRCm39)	V275A	probably damaging	Het
Fgd6	T	C	10: 93,881,026 (GRCm39)	S627P	probably damaging	Het
Flywch1	C	T	17: 23,974,876 (GRCm39)	G541D	probably damaging	Het
Grk2	T	C	19: 4,340,430 (GRCm39)	D317G	probably damaging	Het
H2-M5	T	C	17: 37,299,925 (GRCm39)	E83G	probably benign	Het
Hltf	T	C	3: 20,154,037 (GRCm39)	F658L	probably damaging	Het
Hmmr	G	T	11: 40,604,902 (GRCm39)	Q390K	possibly damaging	Het
Lama1	G	A	17: 68,111,531 (GRCm39)	G2261R	probably damaging	Het
Nsd1	A	T	13: 55,461,416 (GRCm39)	T2548S	probably benign	Het
Or1j13	G	A	2: 36,370,043 (GRCm39)	A33V	probably benign	Het
P3h1	C	T	4: 119,104,768 (GRCm39)	R684W	probably damaging	Het
Peli2	G	A	14: 48,493,722 (GRCm39)	V315M	probably damaging	Het
Pfkl	T	A	10: 77,836,673 (GRCm39)	K115*	probably null	Het
Plcxd1	A	G	5: 110,249,271 (GRCm39)	T33A	probably damaging	Het
Ranbp17	A	G	11: 33,193,262 (GRCm39)	S931P	probably damaging	Het
Retsat	T	C	6: 72,584,007 (GRCm39)	Y500H	probably damaging	Het
Rfx8	C	T	1: 39,722,871 (GRCm39)	V249I	possibly damaging	Het
Runx1t1	A	T	4: 13,889,867 (GRCm39)	I599L	unknown	Het
Serpinb7	A	T	1: 107,378,017 (GRCm39)	M237L	probably damaging	Het
Slc35f1	A	G	10: 52,809,303 (GRCm39)	S97G	possibly damaging	Het
Stab1	T	C	14: 30,861,354 (GRCm39)	D2520G	probably benign	Het
Tnfrsf11b	C	T	15: 54,119,423 (GRCm39)	V184M	probably benign	Het
Trpv4	A	T	5: 114,763,117 (GRCm39)	V764E	probably damaging	Het
Tsc22d1	C	A	14: 76,655,057 (GRCm39)	A430E	probably benign	Het
Ttn	T	C	2: 76,580,949 (GRCm39)	R23315G	probably damaging	Het
Txnrd1	A	G	10: 82,731,813 (GRCm39)	I478M	probably benign	Het
Ush2a	T	C	1: 188,410,555 (GRCm39)	V2401A	probably benign	Het
Vill	T	C	9: 118,890,967 (GRCm39)	L191P	probably damaging	Het
Vmn1r30	A	G	6: 58,412,355 (GRCm39)	V159A	probably benign	Het
Washc4	T	A	10: 83,421,740 (GRCm39)	N939K	probably benign	Het
Wdfy3	A	G	5: 102,003,337 (GRCm39)	V2926A	probably damaging	Het
Wdr7	T	C	18: 63,924,914 (GRCm39)	S966P	probably benign	Het
Zfp12	C	A	5: 143,231,086 (GRCm39)	T471N	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
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

2015-12-18