Incidental Mutation 'R5406:Sardh'
ID 426263
Institutional Source Beutler Lab
Gene Symbol Sardh
Ensembl Gene ENSMUSG00000009614
Gene Name sarcosine dehydrogenase
Synonyms
MMRRC Submission 042976-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.109) question?
Stock # R5406 (G1)
Quality Score 206
Status Not validated
Chromosome 2
Chromosomal Location 27078405-27138344 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 27101096 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 698 (V698A)
Ref Sequence ENSEMBL: ENSMUSP00000099950 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102886]
AlphaFold Q99LB7
Predicted Effect noncoding transcript
Transcript: ENSMUST00000091224
Predicted Effect possibly damaging
Transcript: ENSMUST00000102886
AA Change: V698A

PolyPhen 2 Score 0.721 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000099950
Gene: ENSMUSG00000009614
AA Change: V698A

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: ENSMUST00000144448
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147089
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156434
Predicted Effect noncoding transcript
Transcript: ENSMUST00000170435
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.5%
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdhppt A T 9: 4,309,387 (GRCm39) V17D probably damaging Het
Abcb1a C A 5: 8,752,946 (GRCm39) Q566K probably damaging Het
Adam26a A T 8: 44,022,141 (GRCm39) C450S probably damaging Het
Adar C T 3: 89,643,418 (GRCm39) P433L probably damaging Het
Aldh1a2 G T 9: 71,162,403 (GRCm39) A151S possibly damaging Het
Arsk T A 13: 76,242,066 (GRCm39) H69L probably benign Het
Atf6b T A 17: 34,872,771 (GRCm39) Y600* probably null Het
Blk C A 14: 63,618,180 (GRCm39) G242V probably damaging Het
Bmt2 A T 6: 13,677,831 (GRCm39) M1K probably null Het
Catsperg1 G A 7: 28,884,948 (GRCm39) T891M probably damaging Het
Ccdc32 A C 2: 118,852,560 (GRCm39) S131A possibly damaging Het
Cdh8 A G 8: 99,923,002 (GRCm39) V298A probably damaging Het
Cfap54 T A 10: 92,837,720 (GRCm39) Q1060L probably benign Het
Cfap58 G A 19: 48,017,541 (GRCm39) M800I possibly damaging Het
Cntn5 A T 9: 9,833,465 (GRCm39) V362D probably damaging Het
Fkbpl G A 17: 34,864,303 (GRCm39) A24T probably benign Het
G2e3 T C 12: 51,419,449 (GRCm39) S699P probably damaging Het
Gbp4 G T 5: 105,267,387 (GRCm39) Q511K possibly damaging Het
Gdap2 T A 3: 100,098,991 (GRCm39) I361N probably damaging Het
Ino80c T A 18: 24,245,819 (GRCm39) H92L probably benign Het
Lipo4 A G 19: 33,480,618 (GRCm39) V250A probably benign Het
Llgl1 C T 11: 60,604,010 (GRCm39) R1055W probably damaging Het
Lrriq3 T C 3: 154,835,138 (GRCm39) probably null Het
Mmp1a A G 9: 7,467,294 (GRCm39) E290G probably damaging Het
Ncstn A G 1: 171,899,731 (GRCm39) V317A probably benign Het
Nfxl1 G A 5: 72,713,541 (GRCm39) T134I possibly damaging Het
Nup155 A T 15: 8,183,122 (GRCm39) probably null Het
Nup214 C A 2: 31,892,619 (GRCm39) P680T probably damaging Het
Or6c212 G A 10: 129,558,799 (GRCm39) L205F probably damaging Het
Or7h8 A G 9: 20,124,454 (GRCm39) K270E probably benign Het
Or8b12 A G 9: 37,657,943 (GRCm39) N171S probably benign Het
Or8b9 G A 9: 37,766,515 (GRCm39) V134I probably benign Het
Pkd2 T C 5: 104,628,198 (GRCm39) F424S probably damaging Het
Plb1 A G 5: 32,499,259 (GRCm39) D1074G probably damaging Het
Ppm1l T C 3: 69,224,927 (GRCm39) S10P possibly damaging Het
Rnf213 A G 11: 119,331,634 (GRCm39) H2281R probably damaging Het
Rpa2 G T 4: 132,503,559 (GRCm39) A3S probably benign Het
Saxo2 A T 7: 82,284,586 (GRCm39) C91S probably benign Het
Slc3a2 T C 19: 8,685,406 (GRCm39) D198G probably damaging Het
Spata31d1d T A 13: 59,876,592 (GRCm39) E314D probably benign Het
Sptlc3 T C 2: 139,388,398 (GRCm39) V130A probably benign Het
Stpg3 C A 2: 25,103,580 (GRCm39) E115* probably null Het
Tbcd T A 11: 121,342,927 (GRCm39) D19E probably benign Het
Xrcc3 T C 12: 111,778,545 (GRCm39) D2G 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
IGL02167:Sardh APN 2 27,081,987 (GRCm39) missense probably damaging 0.98
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
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
Predicted Primers PCR Primer
(F):5'- TGCCAGCATCTCTGACAGAC -3'
(R):5'- AACTCACCTATAGCCCGGCTTC -3'

Sequencing Primer
(F):5'- AGCATCTCTGACAGACCTTGG -3'
(R):5'- ATAGCCCGGCTTCCCTGAC -3'
Posted On 2016-09-01