Incidental Mutation 'IGL02167:Sardh'
ID 282766
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 # IGL02167
Quality Score
Status
Chromosome 2
Chromosomal Location 27188393-27248337 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to T at 27191975 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 846 (N846K)
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: N846K

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000099950
Gene: ENSMUSG00000009614
AA Change: N846K

DomainStartEndE-ValueType
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: 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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass T A 6: 23,122,722 (GRCm38) probably benign Het
Cacna1f T C X: 7,616,019 (GRCm38) Y581H probably damaging Het
Camsap1 C T 2: 25,934,300 (GRCm38) R1416H probably damaging Het
Ccdc117 T C 11: 5,531,333 (GRCm38) E266G possibly damaging Het
Ccdc9 A T 7: 16,284,359 (GRCm38) L8* probably null Het
Cited2 T C 10: 17,724,270 (GRCm38) S109P probably benign Het
Cnot4 T C 6: 35,056,224 (GRCm38) D286G possibly damaging Het
Col5a1 T C 2: 28,018,556 (GRCm38) I52T probably benign Het
Cry2 T C 2: 92,433,821 (GRCm38) N68S possibly damaging Het
Cul4a T C 8: 13,122,826 (GRCm38) F153S probably damaging Het
Ddr1 T C 17: 35,690,071 (GRCm38) S261G possibly damaging Het
Depdc5 G A 5: 32,903,801 (GRCm38) R324Q probably damaging Het
Dmgdh A G 13: 93,720,627 (GRCm38) probably benign Het
Epha8 A T 4: 136,931,094 (GRCm38) M990K probably damaging Het
Gpr137c G T 14: 45,279,955 (GRCm38) G383C probably damaging Het
Hydin T A 8: 110,418,423 (GRCm38) I802N possibly damaging Het
Ifne A G 4: 88,879,828 (GRCm38) Y118H possibly damaging Het
Kansl2 T C 15: 98,533,515 (GRCm38) probably benign Het
Lig4 T A 8: 9,971,821 (GRCm38) N653I probably benign Het
Nagk A G 6: 83,801,106 (GRCm38) D246G probably damaging Het
Nav1 A G 1: 135,470,961 (GRCm38) S628P probably damaging Het
Ncoa3 A G 2: 166,070,136 (GRCm38) Y1401C probably damaging Het
Ndufa9 A G 6: 126,844,785 (GRCm38) probably benign Het
Nynrin G T 14: 55,863,335 (GRCm38) R194L probably damaging Het
Or10a4 A T 7: 107,097,661 (GRCm38) R65S probably benign Het
Or10ag53 G A 2: 87,252,198 (GRCm38) C87Y probably benign Het
Or13a17 T A 7: 140,691,751 (GRCm38) V282D probably damaging Het
Orc2 A T 1: 58,483,639 (GRCm38) probably benign Het
Oxgr1 T A 14: 120,021,930 (GRCm38) R288S probably damaging Het
Pgap6 T C 17: 26,119,071 (GRCm38) S450P probably damaging Het
Prkcg T C 7: 3,322,581 (GRCm38) probably null Het
Prox1 T C 1: 190,161,280 (GRCm38) N323D probably benign Het
Prrt1 A C 17: 34,631,855 (GRCm38) E215A possibly damaging Het
Rab2b T C 14: 52,268,696 (GRCm38) D103G probably damaging Het
Slc38a8 T A 8: 119,487,360 (GRCm38) T248S probably benign Het
Slc6a18 T C 13: 73,666,472 (GRCm38) probably null Het
Smcp T C 3: 92,584,199 (GRCm38) T114A unknown Het
Trpv1 A G 11: 73,254,797 (GRCm38) N754D probably damaging Het
Txnrd1 A T 10: 82,881,911 (GRCm38) H243L probably benign Het
Wdfy3 T C 5: 101,961,157 (GRCm38) M125V probably damaging Het
Wnk2 T C 13: 49,071,125 (GRCm38) probably null Het
Wrn T C 8: 33,317,555 (GRCm38) M292V probably damaging Het
Zbtb17 T C 4: 141,461,829 (GRCm38) L20P possibly damaging Het
Zfp608 T C 18: 54,988,224 (GRCm38) H97R probably damaging Het
Zfp68 T A 5: 138,606,367 (GRCm38) M565L probably benign Het
Zfp687 T C 3: 95,010,530 (GRCm38) T644A probably benign Het
Zfp777 C T 6: 48,044,526 (GRCm38) G54D probably damaging Het
Other mutations in Sardh
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01110:Sardh APN 2 27,215,113 (GRCm38) missense probably benign 0.07
IGL01686:Sardh APN 2 27,189,613 (GRCm38) missense probably damaging 1.00
IGL01868:Sardh APN 2 27,227,147 (GRCm38) missense probably benign 0.35
IGL02272:Sardh APN 2 27,224,991 (GRCm38) missense probably benign 0.00
IGL02870:Sardh APN 2 27,235,491 (GRCm38) missense possibly damaging 0.93
IGL03117:Sardh APN 2 27,239,446 (GRCm38) missense probably damaging 1.00
PIT4305001:Sardh UTSW 2 27,228,314 (GRCm38) missense probably damaging 1.00
PIT4791001:Sardh UTSW 2 27,197,648 (GRCm38) missense probably damaging 1.00
R0265:Sardh UTSW 2 27,227,066 (GRCm38) splice site probably benign
R0781:Sardh UTSW 2 27,191,919 (GRCm38) missense possibly damaging 0.82
R1110:Sardh UTSW 2 27,191,919 (GRCm38) missense possibly damaging 0.82
R1242:Sardh UTSW 2 27,235,563 (GRCm38) missense probably damaging 1.00
R1404:Sardh UTSW 2 27,239,461 (GRCm38) missense probably damaging 1.00
R1404:Sardh UTSW 2 27,239,461 (GRCm38) missense probably damaging 1.00
R1514:Sardh UTSW 2 27,197,690 (GRCm38) missense possibly damaging 0.95
R1565:Sardh UTSW 2 27,242,719 (GRCm38) missense probably damaging 1.00
R1832:Sardh UTSW 2 27,235,569 (GRCm38) missense possibly damaging 0.95
R1836:Sardh UTSW 2 27,215,182 (GRCm38) missense possibly damaging 0.65
R1997:Sardh UTSW 2 27,244,397 (GRCm38) missense probably damaging 0.97
R2006:Sardh UTSW 2 27,228,339 (GRCm38) missense probably damaging 1.00
R2046:Sardh UTSW 2 27,215,082 (GRCm38) missense possibly damaging 0.95
R2242:Sardh UTSW 2 27,235,515 (GRCm38) missense possibly damaging 0.93
R2897:Sardh UTSW 2 27,189,547 (GRCm38) missense probably benign 0.00
R4332:Sardh UTSW 2 27,215,114 (GRCm38) missense possibly damaging 0.85
R4807:Sardh UTSW 2 27,189,527 (GRCm38) missense probably benign 0.00
R4841:Sardh UTSW 2 27,191,955 (GRCm38) missense probably benign 0.09
R4842:Sardh UTSW 2 27,191,955 (GRCm38) missense probably benign 0.09
R4856:Sardh UTSW 2 27,244,477 (GRCm38) missense probably benign 0.02
R4936:Sardh UTSW 2 27,228,241 (GRCm38) splice site probably null
R5089:Sardh UTSW 2 27,239,613 (GRCm38) critical splice donor site probably null
R5110:Sardh UTSW 2 27,189,547 (GRCm38) missense probably benign 0.00
R5257:Sardh UTSW 2 27,244,259 (GRCm38) missense probably damaging 0.98
R5406:Sardh UTSW 2 27,211,084 (GRCm38) missense possibly damaging 0.72
R5450:Sardh UTSW 2 27,239,698 (GRCm38) missense possibly damaging 0.65
R5594:Sardh UTSW 2 27,220,723 (GRCm38) missense probably damaging 1.00
R5870:Sardh UTSW 2 27,220,641 (GRCm38) critical splice donor site probably null
R6014:Sardh UTSW 2 27,197,528 (GRCm38) critical splice donor site probably null
R6021:Sardh UTSW 2 27,189,643 (GRCm38) missense probably benign 0.44
R6470:Sardh UTSW 2 27,244,372 (GRCm38) missense probably damaging 1.00
R6577:Sardh UTSW 2 27,218,855 (GRCm38) missense possibly damaging 0.95
R6750:Sardh UTSW 2 27,228,257 (GRCm38) missense probably benign 0.04
R7035:Sardh UTSW 2 27,230,842 (GRCm38) missense probably damaging 1.00
R7162:Sardh UTSW 2 27,197,690 (GRCm38) missense possibly damaging 0.95
R7256:Sardh UTSW 2 27,218,812 (GRCm38) missense probably benign
R7692:Sardh UTSW 2 27,197,639 (GRCm38) missense probably benign 0.01
R7709:Sardh UTSW 2 27,241,517 (GRCm38) missense possibly damaging 0.62
R7884:Sardh UTSW 2 27,239,371 (GRCm38) missense probably damaging 0.99
R8028:Sardh UTSW 2 27,230,455 (GRCm38) missense probably damaging 1.00
R8095:Sardh UTSW 2 27,242,718 (GRCm38) missense probably damaging 1.00
R8120:Sardh UTSW 2 27,218,851 (GRCm38) missense possibly damaging 0.62
R8302:Sardh UTSW 2 27,215,110 (GRCm38) missense probably benign 0.03
R8323:Sardh UTSW 2 27,235,564 (GRCm38) missense probably damaging 1.00
R8535:Sardh UTSW 2 27,239,645 (GRCm38) missense probably damaging 1.00
R8704:Sardh UTSW 2 27,230,465 (GRCm38) missense possibly damaging 0.50
R8781:Sardh UTSW 2 27,196,703 (GRCm38) missense possibly damaging 0.95
R8858:Sardh UTSW 2 27,228,290 (GRCm38) missense probably null 1.00
R9265:Sardh UTSW 2 27,215,053 (GRCm38) missense probably damaging 0.99
R9337:Sardh UTSW 2 27,196,666 (GRCm38) missense probably benign 0.11
R9342:Sardh UTSW 2 27,230,857 (GRCm38) missense possibly damaging 0.95
R9539:Sardh UTSW 2 27,244,286 (GRCm38) missense probably damaging 0.99
R9600:Sardh UTSW 2 27,230,501 (GRCm38) missense probably benign
R9714:Sardh UTSW 2 27,189,629 (GRCm38) missense possibly damaging 0.64
X0011:Sardh UTSW 2 27,242,746 (GRCm38) missense probably damaging 1.00
Z1176:Sardh UTSW 2 27,218,890 (GRCm38) missense possibly damaging 0.52
Z1176:Sardh UTSW 2 27,218,834 (GRCm38) missense possibly damaging 0.88
Z1176:Sardh UTSW 2 27,196,673 (GRCm38) missense probably benign 0.08
Z1177:Sardh UTSW 2 27,235,513 (GRCm38) missense probably damaging 1.00
Posted On 2015-04-16