Incidental Mutation 'IGL02272:Sardh'
ID 287185
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 # IGL02272
Quality Score
Status
Chromosome 2
Chromosomal Location 27078405-27138344 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 27115003 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Alanine at position 550 (D550A)
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 benign
Transcript: ENSMUST00000102886
AA Change: D550A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000099950
Gene: ENSMUSG00000009614
AA Change: D550A

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: ENSMUST00000144448
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgre1 T A 17: 57,757,021 (GRCm39) C759* probably null Het
Adgrg6 T A 10: 14,344,573 (GRCm39) M127L probably damaging Het
Anxa9 A G 3: 95,213,205 (GRCm39) V47A probably benign Het
Arhgef12 T A 9: 42,912,748 (GRCm39) D483V probably damaging Het
Arrdc3 C A 13: 81,039,769 (GRCm39) probably benign Het
Ccdc169 A G 3: 55,058,169 (GRCm39) E67G probably damaging Het
Ccdc191 T A 16: 43,780,385 (GRCm39) V731D possibly damaging Het
Cdh3 G T 8: 107,274,468 (GRCm39) probably null Het
Cntnap1 G A 11: 101,069,142 (GRCm39) V199M probably damaging Het
Cntnap3 A T 13: 64,905,225 (GRCm39) V852E probably damaging Het
Csmd1 A T 8: 16,249,907 (GRCm39) S1024T probably damaging Het
Cyp3a25 T C 5: 145,930,075 (GRCm39) probably benign Het
Dusp6 T A 10: 99,101,881 (GRCm39) V289D probably damaging Het
Ecpas A T 4: 58,811,731 (GRCm39) N1439K probably benign Het
Epha6 C T 16: 59,639,300 (GRCm39) R858Q probably damaging Het
Flrt2 T A 12: 95,746,478 (GRCm39) F272Y probably damaging Het
Gbf1 T A 19: 46,258,242 (GRCm39) W846R probably damaging Het
Gtpbp2 T A 17: 46,475,707 (GRCm39) V152E probably benign Het
Hmces A G 6: 87,894,837 (GRCm39) probably null Het
Hsph1 A G 5: 149,540,995 (GRCm39) S852P probably benign Het
Kat6b A C 14: 21,676,846 (GRCm39) K394Q probably damaging Het
Kdr G A 5: 76,122,500 (GRCm39) T475I probably benign Het
Klhl25 A G 7: 75,516,368 (GRCm39) T425A probably benign Het
Klk1b8 T A 7: 43,602,217 (GRCm39) C50S probably damaging Het
Kri1 T C 9: 21,187,464 (GRCm39) Y343C probably damaging Het
Lamb1 T C 12: 31,355,768 (GRCm39) S953P probably benign Het
Lpin1 A G 12: 16,597,601 (GRCm39) V681A probably damaging Het
Lpin3 A G 2: 160,743,581 (GRCm39) T508A probably benign Het
Moxd1 T A 10: 24,158,598 (GRCm39) Y417* probably null Het
Mthfd1l T G 10: 3,991,812 (GRCm39) I588S probably damaging Het
Myo5c C A 9: 75,173,442 (GRCm39) N543K possibly damaging Het
Myo9a T A 9: 59,791,883 (GRCm39) probably benign Het
Nme8 T C 13: 19,842,996 (GRCm39) Y393C probably damaging Het
Nr2e1 T G 10: 42,443,975 (GRCm39) N249T probably damaging Het
Pex11g A G 8: 3,515,898 (GRCm39) V45A probably benign Het
Pkhd1 C A 1: 20,279,484 (GRCm39) G2945W probably damaging Het
Plxnd1 A G 6: 115,970,589 (GRCm39) F393S probably damaging Het
Ppp3cc A G 14: 70,473,938 (GRCm39) V353A probably damaging Het
Prss16 T A 13: 22,187,205 (GRCm39) Q455L probably damaging Het
Ptpn6 A T 6: 124,698,171 (GRCm39) V524E probably damaging Het
Rap1gap A G 4: 137,443,877 (GRCm39) Y163C probably damaging Het
Rnf31 C T 14: 55,836,239 (GRCm39) L598F probably damaging Het
Serpinc1 T G 1: 160,827,562 (GRCm39) I387S probably damaging Het
Sh3d19 A T 3: 86,028,474 (GRCm39) D650V probably benign Het
Sipa1l2 T A 8: 126,218,750 (GRCm39) T196S probably damaging Het
Slc25a46 T C 18: 31,716,621 (GRCm39) T294A probably benign Het
Srrm2 T C 17: 24,034,756 (GRCm39) probably benign Het
Steap2 T A 5: 5,727,612 (GRCm39) N241I probably benign Het
Tcaf3 T C 6: 42,573,594 (GRCm39) Y206C probably damaging Het
Tmem259 T A 10: 79,814,297 (GRCm39) Q322L probably damaging Het
Tnni2 C A 7: 141,997,166 (GRCm39) Q52K possibly damaging Het
Ttn A G 2: 76,565,372 (GRCm39) V28285A possibly damaging Het
Uba7 T A 9: 107,853,352 (GRCm39) S99R probably benign Het
Ubxn2b A T 4: 6,216,071 (GRCm39) K331N probably damaging Het
Usp50 G A 2: 126,611,864 (GRCm39) T232I probably damaging Het
Vmn2r116 G A 17: 23,604,973 (GRCm39) M95I probably benign Het
Vmn2r116 T A 17: 23,604,978 (GRCm39) L97Q probably damaging Het
Vmn2r24 A T 6: 123,763,843 (GRCm39) N240I possibly damaging Het
Vmn2r72 T C 7: 85,399,901 (GRCm39) R383G probably benign 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
IGL02167:Sardh APN 2 27,081,987 (GRCm39) missense probably damaging 0.98
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