Incidental Mutation 'PIT4305001:Sardh'
ID 554533
Institutional Source Beutler Lab
Gene Symbol Sardh
Ensembl Gene ENSMUSG00000009614
Gene Name sarcosine dehydrogenase
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.086) question?
Stock # PIT4305001 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 27188393-27248337 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 27228314 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 468 (N468S)
Ref Sequence ENSEMBL: ENSMUSP00000099950 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102886]
AlphaFold Q99LB7
Predicted Effect probably damaging
Transcript: ENSMUST00000102886
AA Change: N468S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000099950
Gene: ENSMUSG00000009614
AA Change: N468S

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
Coding Region Coverage
  • 1x: 93.4%
  • 3x: 91.3%
  • 10x: 86.8%
  • 20x: 76.6%
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts4 A G 1: 171,259,041 (GRCm38) N801D probably benign Het
Adcy2 T C 13: 68,678,602 (GRCm38) K661R probably benign Het
Akap1 A T 11: 88,844,378 (GRCm38) M486K probably benign Het
Arhgap40 T A 2: 158,531,905 (GRCm38) I202N probably benign Het
C1qtnf2 T A 11: 43,491,195 (GRCm38) L248Q probably damaging Het
Casp1 A T 9: 5,306,135 (GRCm38) H340L probably benign Het
Cd5 A G 19: 10,726,386 (GRCm38) V104A possibly damaging Het
Celsr1 T A 15: 85,900,937 (GRCm38) E3032V possibly damaging Het
Cts7 A G 13: 61,356,572 (GRCm38) I59T probably damaging Het
Cutc G T 19: 43,768,269 (GRCm38) A267S probably damaging Het
Dmwd A G 7: 19,080,718 (GRCm38) Q431R probably damaging Het
Dnah6 T C 6: 73,065,755 (GRCm38) N3280S probably benign Het
Dnah7b A T 1: 46,373,348 (GRCm38) N4039I probably damaging Het
Dnaja4 T C 9: 54,710,634 (GRCm38) I260T probably benign Het
Drd5 T C 5: 38,320,584 (GRCm38) F307L probably damaging Het
Dsc2 C T 18: 20,046,243 (GRCm38) S256N probably damaging Het
Dstyk G T 1: 132,455,896 (GRCm38) E617* probably null Het
Dusp15 G A 2: 152,945,476 (GRCm38) H72Y probably benign Het
Dysf C T 6: 84,100,234 (GRCm38) R660* probably null Het
Fbxl13 T A 5: 21,522,148 (GRCm38) I584L probably benign Het
Gm10354 T C 5: 14,978,790 (GRCm38) D29G probably benign Het
Gsap T C 5: 21,186,409 (GRCm38) L16P probably damaging Het
Hgsnat C T 8: 25,945,199 (GRCm38) A636T possibly damaging Het
Hivep1 A G 13: 42,181,671 (GRCm38) T161A Het
Hspg2 T C 4: 137,550,373 (GRCm38) S2928P possibly damaging Het
Ifi214 G A 1: 173,527,919 (GRCm38) P108S probably benign Het
Il17ra A T 6: 120,481,406 (GRCm38) Y506F probably damaging Het
Il9r T A 11: 32,194,734 (GRCm38) Q53L probably benign Het
Irf2bp2 C T 8: 126,592,659 (GRCm38) G260R probably damaging Het
Jdp2 T A 12: 85,638,852 (GRCm38) I129N probably damaging Het
Kif1b T C 4: 149,220,792 (GRCm38) probably null Het
Klrd1 A G 6: 129,596,707 (GRCm38) T120A unknown Het
Lfng A G 5: 140,612,528 (GRCm38) N202D probably damaging Het
Ltbp3 A G 19: 5,752,067 (GRCm38) E757G probably damaging Het
Ltn1 G A 16: 87,420,323 (GRCm38) P342L probably damaging Het
Lum A C 10: 97,568,876 (GRCm38) Y211S probably damaging Het
Ncapd2 G A 6: 125,184,027 (GRCm38) R292* probably null Het
Nlrc4 T C 17: 74,446,309 (GRCm38) T360A probably damaging Het
Olfr1231 T C 2: 89,303,383 (GRCm38) I70V probably benign Het
Olfr850 T C 9: 19,478,061 (GRCm38) Y63C probably damaging Het
Palm2 C A 4: 57,638,029 (GRCm38) T22K possibly damaging Het
Pde3a A G 6: 141,492,310 (GRCm38) D1035G probably benign Het
Phf20l1 A T 15: 66,613,052 (GRCm38) K322I possibly damaging Het
Pik3r3 A C 4: 116,292,126 (GRCm38) N349T probably benign Het
Poc1a A G 9: 106,349,829 (GRCm38) Q420R Het
Prl7d1 A T 13: 27,714,337 (GRCm38) M63K possibly damaging Het
Rap1gds1 C A 3: 138,956,300 (GRCm38) M398I probably benign Het
Rapgef6 T A 11: 54,679,377 (GRCm38) V1192D probably damaging Het
Rif1 T C 2: 52,111,958 (GRCm38) V166A Het
Robo4 T C 9: 37,411,391 (GRCm38) Y847H probably damaging Het
Sema5a A G 15: 32,628,199 (GRCm38) T553A probably benign Het
Serpina12 A G 12: 104,035,717 (GRCm38) Y247H probably damaging Het
Ston2 G T 12: 91,648,502 (GRCm38) D377E possibly damaging Het
Syne1 A G 10: 5,333,023 (GRCm38) S1557P probably damaging Het
Syt6 C T 3: 103,575,453 (GRCm38) R26W possibly damaging Het
Tep1 C T 14: 50,829,227 (GRCm38) G2305R possibly damaging Het
Ticrr A G 7: 79,679,023 (GRCm38) T637A possibly damaging Het
Tnn A T 1: 160,086,077 (GRCm38) F1546Y possibly damaging Het
Tpr A G 1: 150,440,137 (GRCm38) D2055G possibly damaging Het
Trim39 A G 17: 36,268,970 (GRCm38) V31A possibly damaging Het
Trpc7 G T 13: 56,887,508 (GRCm38) T204K probably benign Het
Urgcp T C 11: 5,717,996 (GRCm38) Y157C probably damaging Het
Vmn1r81 A T 7: 12,260,663 (GRCm38) I6K probably benign 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
IGL02167:Sardh APN 2 27,191,975 (GRCm38) missense probably damaging 0.98
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
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
Predicted Primers PCR Primer
(F):5'- AAGCCCCTGTGGAAACTAGTC -3'
(R):5'- GTGACTGAGTAAAGAGGCTAACCC -3'

Sequencing Primer
(F):5'- GTGGAAACTAGTCTCTTCCACC -3'
(R):5'- TAACCCTGGCCCAGATTTGGTG -3'
Posted On 2019-06-07