Incidental Mutation 'R7496:Gm527'
ID 581088
Institutional Source Beutler Lab
Gene Symbol Gm527
Ensembl Gene ENSMUSG00000047227
Gene Name predicted gene 527
Synonyms LOC217648
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.185) question?
Stock # R7496 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 64917906-64924592 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to T at 64922410 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 204 (R204C)
Ref Sequence ENSEMBL: ENSMUSP00000059435 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058135] [ENSMUST00000220993] [ENSMUST00000223388]
AlphaFold Q4KL13
Predicted Effect possibly damaging
Transcript: ENSMUST00000058135
AA Change: R204C

PolyPhen 2 Score 0.745 (Sensitivity: 0.85; Specificity: 0.92)
Predicted Effect probably benign
Transcript: ENSMUST00000220993
Predicted Effect possibly damaging
Transcript: ENSMUST00000223388
AA Change: R204C

PolyPhen 2 Score 0.745 (Sensitivity: 0.85; Specificity: 0.92)
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 100% (50/50)
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrg7 T C 16: 56,732,857 I626V probably benign Het
Adgrv1 A T 13: 81,440,225 V4414E possibly damaging Het
Ago1 C T 4: 126,461,752 R88H probably benign Het
Ankrd6 C T 4: 32,810,299 D461N probably damaging Het
Bcl2l14 A G 6: 134,427,454 N202D probably benign Het
Bnip2 A G 9: 70,003,404 I245V probably damaging Het
Cdhr3 T C 12: 33,060,265 D340G probably damaging Het
Dchs1 T C 7: 105,761,859 E1653G probably damaging Het
Dhdds C A 4: 133,971,254 Q256H possibly damaging Het
Dsc2 A T 18: 20,035,394 C669* probably null Het
Dync2h1 T C 9: 7,135,015 probably null Het
Dysf T C 6: 84,067,478 S276P probably benign Het
Galc A T 12: 98,259,238 L31* probably null Het
Hivep3 G A 4: 120,132,402 D2017N probably benign Het
Inf2 C T 12: 112,600,318 R106C probably damaging Het
Itgb1 A G 8: 128,720,305 K434E probably benign Het
Lamb1 A C 12: 31,300,021 N700T probably benign Het
Macc1 T G 12: 119,446,999 F501V possibly damaging Het
Man2a2 G A 7: 80,352,997 H1079Y probably damaging Het
Nedd4l G A 18: 65,080,018 V82I possibly damaging Het
Nr2f1 T C 13: 78,195,242 E301G probably damaging Het
Olfr1129 A G 2: 87,575,371 R96G probably damaging Het
Olfr1246 T C 2: 89,590,696 I140V probably benign Het
Olfr695 A G 7: 106,714,228 L151P probably benign Het
Pdgfrb G A 18: 61,078,932 V844I possibly damaging Het
Pkd1l2 T C 8: 117,060,594 E570G possibly damaging Het
R3hdm4 A T 10: 79,916,874 L4Q probably damaging Het
Rb1cc1 A G 1: 6,248,191 K639R probably null Het
Robo3 A T 9: 37,427,825 C257S probably damaging Het
Rprd2 A T 3: 95,765,775 L772Q probably damaging Het
Sall2 T C 14: 52,315,561 D59G possibly damaging Het
Sall3 T C 18: 80,973,364 T450A probably benign Het
Sdhd T C 9: 50,597,085 *160W probably null Het
Sgca T C 11: 94,971,244 E194G possibly damaging Het
Shtn1 G A 19: 59,028,184 R228C probably damaging Het
Skor1 A T 9: 63,146,850 S22T probably benign Het
Slc26a8 C A 17: 28,644,850 G645V probably benign Het
Smtn T C 11: 3,529,988 E411G probably damaging Het
Sox17 A G 1: 4,492,327 Y217H probably damaging Het
Syk A G 13: 52,612,416 Q179R probably benign Het
Tpp2 A G 1: 43,983,517 I959M probably benign Het
Trim65 T A 11: 116,126,316 N440I probably damaging Het
Ubr2 C T 17: 46,990,991 probably null Het
Ush2a T C 1: 188,351,087 S276P possibly damaging Het
Vmn1r61 A G 7: 5,610,431 S295P probably benign Het
Wdhd1 T C 14: 47,274,024 Q77R probably benign Het
Xylb T A 9: 119,391,816 *552R probably null Het
Zfp932 C T 5: 110,008,828 P131S probably damaging Het
Other mutations in Gm527
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03171:Gm527 APN 12 64921157 missense probably damaging 0.99
IGL03354:Gm527 APN 12 64922380 missense probably damaging 0.96
R1905:Gm527 UTSW 12 64921023 missense possibly damaging 0.94
R3951:Gm527 UTSW 12 64923502 splice site probably benign
R5155:Gm527 UTSW 12 64923607 missense probably damaging 0.99
R5747:Gm527 UTSW 12 64920846 missense probably damaging 0.99
R6358:Gm527 UTSW 12 64923548 missense possibly damaging 0.92
R6696:Gm527 UTSW 12 64921092 missense possibly damaging 0.66
R8266:Gm527 UTSW 12 64920945 missense probably damaging 0.99
R8498:Gm527 UTSW 12 64921008 missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- GCTCATACTGCATTGGCCTC -3'
(R):5'- TTATTGTACCTACTCAGCAATGAGG -3'

Sequencing Primer
(F):5'- ACTGCATTGGCCTCTAAGATG -3'
(R):5'- GCTTTGTATTCATCAACTGGCAATAG -3'
Posted On 2019-10-17