Incidental Mutation 'IGL02870:Sardh'
ID362552
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sardh
Ensembl Gene ENSMUSG00000009614
Gene Namesarcosine dehydrogenase
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.107) question?
Stock #IGL02870
Quality Score
Status
Chromosome2
Chromosomal Location27188393-27248337 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 27235491 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Asparagine at position 337 (I337N)
Ref Sequence ENSEMBL: ENSMUSP00000099950 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102886]
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

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: 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
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 C T 13: 81,563,732 V1042M probably benign Het
Agmat C A 4: 141,746,942 H45N probably benign Het
Akap13 T A 7: 75,609,188 V520D probably damaging Het
Ccser1 T A 6: 61,311,292 N146K probably damaging Het
Cdhr4 T A 9: 107,998,064 probably null Het
Col4a1 G A 8: 11,221,375 T753I probably benign Het
Cyp3a59 T C 5: 146,098,184 I224T probably benign Het
Ddx19a G T 8: 110,983,626 P114Q probably damaging Het
Eftud2 A G 11: 102,862,626 V275A probably damaging Het
Fgd6 T C 10: 94,045,164 S627P probably damaging Het
Flywch1 C T 17: 23,755,902 G541D probably damaging Het
Grk2 T C 19: 4,290,402 D317G probably damaging Het
H2-M5 T C 17: 36,989,033 E83G probably benign Het
Hltf T C 3: 20,099,873 F658L probably damaging Het
Hmmr G T 11: 40,714,075 Q390K possibly damaging Het
Lama1 G A 17: 67,804,536 G2261R probably damaging Het
Nsd1 A T 13: 55,313,603 T2548S probably benign Het
Olfr341 G A 2: 36,480,031 A33V probably benign Het
P3h1 C T 4: 119,247,571 R684W probably damaging Het
Peli2 G A 14: 48,256,265 V315M probably damaging Het
Pfkl T A 10: 78,000,839 K115* probably null Het
Plcxd1 A G 5: 110,101,405 T33A probably damaging Het
Ranbp17 A G 11: 33,243,262 S931P probably damaging Het
Retsat T C 6: 72,607,024 Y500H probably damaging Het
Rfx8 C T 1: 39,683,711 V249I possibly damaging Het
Runx1t1 A T 4: 13,889,867 I599L unknown Het
Serpinb7 A T 1: 107,450,287 M237L probably damaging Het
Slc35f1 A G 10: 52,933,207 S97G possibly damaging Het
Stab1 T C 14: 31,139,397 D2520G probably benign Het
Tnfrsf11b C T 15: 54,256,027 V184M probably benign Het
Trpv4 A T 5: 114,625,056 V764E probably damaging Het
Tsc22d1 C A 14: 76,417,617 A430E probably benign Het
Ttn T C 2: 76,750,605 R23315G probably damaging Het
Txnrd1 A G 10: 82,895,979 I478M probably benign Het
Ush2a T C 1: 188,678,358 V2401A probably benign Het
Vill T C 9: 119,061,899 L191P probably damaging Het
Vmn1r30 A G 6: 58,435,370 V159A probably benign Het
Washc4 T A 10: 83,585,876 N939K probably benign Het
Wdfy3 A G 5: 101,855,471 V2926A probably damaging Het
Wdr7 T C 18: 63,791,843 S966P probably benign Het
Zfp12 C A 5: 143,245,331 T471N probably damaging Het
Other mutations in Sardh
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
R7162:Sardh UTSW 2 27197690 missense possibly damaging 0.95
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
R7967:Sardh UTSW 2 27239371 missense probably damaging 0.99
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
Posted On2015-12-18