Mutagenetix > Incidental Mutation

Incidental Mutation 'R7162:Sardh'

557627

Institutional Source

Beutler Lab

Gene Symbol

Sardh

Ensembl Gene

ENSMUSG00000009614

Gene Name

sarcosine dehydrogenase

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R7162 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

27188393-27248337 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 27197690 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 723 (V723A)

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: V723A

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000099950
Gene: ENSMUSG00000009614
AA Change: V723A

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: ENSMUST00000127805

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156434

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000170435

Meta Mutation Damage Score

0.4404

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

99% (85/86)

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akp3	C	T	1: 87,127,749	T506I	unknown	Het
Ank1	T	C	8: 23,132,354	W1640R	possibly damaging	Het
Atp2a2	A	G	5: 122,489,324	M126T	probably benign	Het
Bptf	A	T	11: 107,043,631		probably null	Het
Brat1	T	C	5: 140,710,249	V125A	probably benign	Het
Cables1	T	C	18: 11,926,366		probably null	Het
Cabp5	A	T	7: 13,401,335	M67L	probably damaging	Het
Cacna1b	A	C	2: 24,700,022	I558S	probably benign	Het
Ccdc166	A	G	15: 75,981,195	S308P	probably benign	Het
Cfap57	C	T	4: 118,614,931	V84I	probably benign	Het
Cfhr2	A	G	1: 139,813,526	V237A	probably benign	Het
Clybl	C	A	14: 122,371,320	S108*	probably null	Het
Cubn	A	G	2: 13,342,498	Y2070H	probably damaging	Het
Cyp8b1	A	G	9: 121,915,711	F185S	probably damaging	Het
Dennd2c	T	A	3: 103,156,107	V620D	probably damaging	Het
Dis3l2	T	C	1: 87,044,030	F597L	possibly damaging	Het
Eif3f	G	A	7: 108,940,731	R282H	probably benign	Het
Ell	C	A	8: 70,578,909	R86S	possibly damaging	Het
Eppk1	A	G	15: 76,106,609	V2024A	possibly damaging	Het
Exoc6	T	C	19: 37,577,118	I214T	probably damaging	Het
Faim2	A	G	15: 99,521,167		probably null	Het
Gli1	A	G	10: 127,332,437	S516P	probably benign	Het
Gm18596	A	T	10: 77,742,200	S147T	unknown	Het
Gm19965	A	G	1: 116,822,365	Y592C	unknown	Het
Gng12	T	C	6: 67,017,301	S36P	unknown	Het
Gramd3	G	A	18: 56,485,457		probably null	Het
Hmcn1	T	A	1: 150,748,993	T1054S	probably benign	Het
Ifngr1	A	G	10: 19,609,353	T367A	probably benign	Het
Il21r	G	T	7: 125,632,311	V304L	probably benign	Het
Ino80d	G	A	1: 63,065,735	T394M	probably damaging	Het
Itfg2	C	T	6: 128,410,583	V380M	probably damaging	Het
Kcna5	C	T	6: 126,533,843	V441I	possibly damaging	Het
Kcp	T	A	6: 29,497,200		probably null	Het
Kdf1	C	T	4: 133,529,918	T375I	unknown	Het
Klk1b1	A	T	7: 43,969,247	D16V	probably damaging	Het
Krtap5-4	A	C	7: 142,303,598	T2P	unknown	Het
Lamtor1	A	G	7: 101,906,036	D13G	probably benign	Het
Lrp10	T	C	14: 54,465,706	V72A	possibly damaging	Het
Lrrc1	C	A	9: 77,432,190	A503S	probably benign	Het
Mylk	A	T	16: 34,922,529	D1137V	probably damaging	Het
Myo5b	C	G	18: 74,695,427	L717V	probably benign	Het
Myoz3	T	A	18: 60,576,413	R225S	probably damaging	Het
Myrf	A	G	19: 10,218,646	F335L	possibly damaging	Het
Nfib	A	C	4: 82,350,440	S292A	probably damaging	Het
Notch3	G	T	17: 32,146,449	H1096Q	probably damaging	Het
Nt5c1a	A	G	4: 123,214,105	R194G	probably benign	Het
Olfr76	A	G	19: 12,120,137	F192L	possibly damaging	Het
Olfr958	A	G	9: 39,550,229	I214T	probably damaging	Het
Parp4	A	G	14: 56,648,876	E1804G	unknown	Het
Pcdhac2	A	T	18: 37,145,787	I607L	probably benign	Het
Pcdhb5	A	G	18: 37,321,686	D373G	probably benign	Het
Pcf11	A	T	7: 92,664,013	V154E	probably damaging	Het
Pdia3	T	G	2: 121,429,521	D180E	probably benign	Het
Piezo2	C	A	18: 63,124,709	V313F	possibly damaging	Het
Pik3ap1	C	A	19: 41,321,526	A452S	probably benign	Het
Plb1	A	G	5: 32,349,663	K1194R	probably benign	Het
Pld3	A	C	7: 27,532,474	W431G	probably damaging	Het
Plekha3	T	C	2: 76,692,766		probably null	Het
Ppm1f	G	T	16: 16,914,193	R169L	probably damaging	Het
Ppp2r3d	A	G	9: 124,439,673	V60A		Het
Prop1	T	A	11: 50,952,054	D102V	probably damaging	Het
Rbm27	G	A	18: 42,314,027	G446R	unknown	Het
Rc3h2	C	A	2: 37,409,605	V138L	possibly damaging	Het
Rorc	G	A	3: 94,377,608		probably null	Het
Sart3	A	G	5: 113,762,835	Y181H	probably damaging	Het
Sbpl	A	T	17: 23,953,465	M160K	possibly damaging	Het
Sh3gl3	A	G	7: 82,284,142	S238G	probably benign	Het
Slc22a30	A	G	19: 8,336,717		probably null	Het
Slc3a1	A	T	17: 85,064,014	R665*	probably null	Het
Stk32a	C	A	18: 43,297,584	Y186*	probably null	Het
Stxbp6	T	C	12: 44,902,880	N89D	probably benign	Het
Svep1	A	G	4: 58,070,262	F2508S	possibly damaging	Het
Tas1r1	A	G	4: 152,032,238	V313A	possibly damaging	Het
Tmem81	T	C	1: 132,507,617	Y54H	probably damaging	Het
Tmtc1	T	C	6: 148,271,487	N582S	probably damaging	Het
Top2b	T	C	14: 16,416,653	S1138P	probably benign	Het
Trim24	T	A	6: 37,965,521	N989K	possibly damaging	Het
Trim72	T	A	7: 128,007,649	M145K	probably benign	Het
Ttll9	T	A	2: 152,989,603	S154T	probably damaging	Het
Tusc3	T	C	8: 39,126,587	V286A	probably benign	Het
Vat1l	C	A	8: 114,236,778	H185N	probably damaging	Het
Vmn1r209	A	T	13: 22,805,958	D187E	probably damaging	Het
Vmn2r87	T	C	10: 130,477,547	N450S	probably benign	Het
Wdr7	T	A	18: 63,724,139	D95E	possibly damaging	Het
Zfp937	C	T	2: 150,239,519	H490Y	probably benign	Het
Zfp974	A	T	7: 27,911,519	H260Q	possibly 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
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
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'- TGGGCTCACCTTTCTCGATG -3'
(R):5'- TGCAGATACTGAGTGACACAGG -3'

Sequencing Primer
(F):5'- ACCTTTCTCGATGCTCAGGGAG -3'
(R):5'- CCCATTTCTCAGTGACTG -3'

Posted On

2019-06-26