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: 0.109) question?
Stock # IGL02167
Quality Score
Status
Chromosome 2
Chromosomal Location 27078405-27138344 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 27081987 bp (GRCm39)
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: 23,122,721 (GRCm39) probably benign Het
Cacna1f T C X: 7,482,258 (GRCm39) Y581H probably damaging Het
Camsap1 C T 2: 25,824,312 (GRCm39) R1416H probably damaging Het
Ccdc117 T C 11: 5,481,333 (GRCm39) E266G possibly damaging Het
Ccdc9 A T 7: 16,018,284 (GRCm39) L8* probably null Het
Cited2 T C 10: 17,600,018 (GRCm39) S109P probably benign Het
Cnot4 T C 6: 35,033,159 (GRCm39) D286G possibly damaging Het
Col5a1 T C 2: 27,908,568 (GRCm39) I52T probably benign Het
Cry2 T C 2: 92,264,166 (GRCm39) N68S possibly damaging Het
Cul4a T C 8: 13,172,826 (GRCm39) F153S probably damaging Het
Ddr1 T C 17: 36,000,963 (GRCm39) S261G possibly damaging Het
Depdc5 G A 5: 33,061,145 (GRCm39) R324Q probably damaging Het
Dmgdh A G 13: 93,857,135 (GRCm39) probably benign Het
Epha8 A T 4: 136,658,405 (GRCm39) M990K probably damaging Het
Gpr137c G T 14: 45,517,412 (GRCm39) G383C probably damaging Het
Hydin T A 8: 111,145,055 (GRCm39) I802N possibly damaging Het
Ifne A G 4: 88,798,065 (GRCm39) Y118H possibly damaging Het
Kansl2 T C 15: 98,431,396 (GRCm39) probably benign Het
Lig4 T A 8: 10,021,821 (GRCm39) N653I probably benign Het
Nagk A G 6: 83,778,088 (GRCm39) D246G probably damaging Het
Nav1 A G 1: 135,398,699 (GRCm39) S628P probably damaging Het
Ncoa3 A G 2: 165,912,056 (GRCm39) Y1401C probably damaging Het
Ndufa9 A G 6: 126,821,748 (GRCm39) probably benign Het
Nynrin G T 14: 56,100,792 (GRCm39) R194L probably damaging Het
Or10a4 A T 7: 106,696,868 (GRCm39) R65S probably benign Het
Or10ag53 G A 2: 87,082,542 (GRCm39) C87Y probably benign Het
Or13a17 T A 7: 140,271,664 (GRCm39) V282D probably damaging Het
Orc2 A T 1: 58,522,798 (GRCm39) probably benign Het
Oxgr1 T A 14: 120,259,342 (GRCm39) R288S probably damaging Het
Pgap6 T C 17: 26,338,045 (GRCm39) S450P probably damaging Het
Prkcg T C 7: 3,371,097 (GRCm39) probably null Het
Prox1 T C 1: 189,893,477 (GRCm39) N323D probably benign Het
Prrt1 A C 17: 34,850,829 (GRCm39) E215A possibly damaging Het
Rab2b T C 14: 52,506,153 (GRCm39) D103G probably damaging Het
Slc38a8 T A 8: 120,214,099 (GRCm39) T248S probably benign Het
Slc6a18 T C 13: 73,814,591 (GRCm39) probably null Het
Smcp T C 3: 92,491,506 (GRCm39) T114A unknown Het
Trpv1 A G 11: 73,145,623 (GRCm39) N754D probably damaging Het
Txnrd1 A T 10: 82,717,745 (GRCm39) H243L probably benign Het
Wdfy3 T C 5: 102,109,023 (GRCm39) M125V probably damaging Het
Wnk2 T C 13: 49,224,601 (GRCm39) probably null Het
Wrn T C 8: 33,807,583 (GRCm39) M292V probably damaging Het
Zbtb17 T C 4: 141,189,140 (GRCm39) L20P possibly damaging Het
Zfp608 T C 18: 55,121,296 (GRCm39) H97R probably damaging Het
Zfp68 T A 5: 138,604,629 (GRCm39) M565L probably benign Het
Zfp687 T C 3: 94,917,841 (GRCm39) T644A probably benign Het
Zfp777 C T 6: 48,021,460 (GRCm39) G54D probably damaging Het
Other mutations in Sardh
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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 2015-04-16