Incidental Mutation 'R5009:BC106179'
ID 390397
Institutional Source Beutler Lab
Gene Symbol BC106179
Ensembl Gene ENSMUSG00000045231
Gene Name cDNA sequence BC106179
Synonyms
MMRRC Submission 042600-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.096) question?
Stock # R5009 (G1)
Quality Score 129
Status Validated
Chromosome 16
Chromosomal Location 23040274-23044234 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) C to A at 23043192 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000136206 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023601] [ENSMUST00000055369] [ENSMUST00000178797]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000023601
SMART Domains Protein: ENSMUSP00000023601
Gene: ENSMUSG00000022885

DomainStartEndE-ValueType
transmembrane domain 9 26 N/A INTRINSIC
Pfam:Glyco_transf_29 127 389 2.3e-63 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000055369
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149488
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152449
Predicted Effect probably benign
Transcript: ENSMUST00000178797
SMART Domains Protein: ENSMUSP00000136206
Gene: ENSMUSG00000022885

DomainStartEndE-ValueType
transmembrane domain 9 26 N/A INTRINSIC
Pfam:Glyco_transf_29 127 389 2.3e-63 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231570
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.5%
Validation Efficiency 100% (91/91)
Allele List at MGI
Other mutations in this stock
Total: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afg2a T A 3: 37,487,426 (GRCm39) probably benign Het
Aim2 T C 1: 173,282,932 (GRCm39) Y5H probably damaging Het
Atosa G A 9: 74,916,171 (GRCm39) E257K probably damaging Het
Atp7b A G 8: 22,517,714 (GRCm39) S375P possibly damaging Het
Brinp3 T A 1: 146,776,787 (GRCm39) N411K probably benign Het
Cacna1d A G 14: 29,801,289 (GRCm39) V1386A probably damaging Het
Cuzd1 T A 7: 130,913,252 (GRCm39) Y455F probably damaging Het
Dctd C T 8: 48,590,449 (GRCm39) probably benign Het
Dip2b T A 15: 100,093,665 (GRCm39) probably null Het
Dot1l G T 10: 80,607,030 (GRCm39) R108L probably benign Het
Dysf T C 6: 84,128,968 (GRCm39) S1413P probably damaging Het
Eea1 C A 10: 95,846,883 (GRCm39) R388S probably benign Het
Elavl1 C T 8: 4,351,723 (GRCm39) R131Q probably benign Het
Erich6b A G 14: 75,902,596 (GRCm39) T138A possibly damaging Het
Esr1 C T 10: 4,662,394 (GRCm39) T4I probably damaging Het
Ets1 T C 9: 32,644,295 (GRCm39) S152P possibly damaging Het
Fcsk C T 8: 111,614,462 (GRCm39) C609Y probably damaging Het
Flrt2 T C 12: 95,746,547 (GRCm39) V295A probably damaging Het
Gm13196 A G 2: 4,705,149 (GRCm39) noncoding transcript Het
Gm5965 T A 16: 88,575,312 (GRCm39) Y162N probably benign Het
Gm7853 A T 14: 35,811,466 (GRCm39) noncoding transcript Het
Gm8126 C T 14: 43,119,065 (GRCm39) A178V probably benign Het
Gpihbp1 A T 15: 75,469,570 (GRCm39) probably benign Het
Greb1 T C 12: 16,774,858 (GRCm39) T180A possibly damaging Het
Gsdme C T 6: 50,222,992 (GRCm39) V108M possibly damaging Het
Gtpbp4 T C 13: 9,039,102 (GRCm39) Y157C probably benign Het
Gvin3 A G 7: 106,200,767 (GRCm39) noncoding transcript Het
Hivep1 T A 13: 42,312,229 (GRCm39) F1490I probably benign Het
Il17ra T C 6: 120,459,168 (GRCm39) V773A probably benign Het
Kctd8 T A 5: 69,268,076 (GRCm39) T345S probably benign Het
Kdm3b T C 18: 34,957,763 (GRCm39) S1243P probably benign Het
Klhdc1 T C 12: 69,298,712 (GRCm39) V99A possibly damaging Het
Lars1 T G 18: 42,354,612 (GRCm39) E778D probably benign Het
Map7 C T 10: 20,137,664 (GRCm39) R279* probably null Het
Mdp1 C T 14: 55,896,683 (GRCm39) R126Q probably damaging Het
Mtbp A G 15: 55,466,583 (GRCm39) D532G probably benign Het
Mylk G A 16: 34,719,877 (GRCm39) V597I probably benign Het
Necab1 A G 4: 14,947,503 (GRCm39) probably benign Het
Nisch C T 14: 30,909,186 (GRCm39) probably benign Het
Nlrp1a T C 11: 71,013,531 (GRCm39) D573G probably benign Het
Noct C A 3: 51,155,482 (GRCm39) N83K probably damaging Het
Or10am5 A G 7: 6,517,546 (GRCm39) L294P probably damaging Het
Or1b1 C T 2: 36,995,467 (GRCm39) R65H possibly damaging Het
Or2a12 C A 6: 42,904,367 (GRCm39) D67E probably damaging Het
Or2ad1 T C 13: 21,326,435 (GRCm39) N264S probably benign Het
Or52n4b A G 7: 108,144,055 (GRCm39) I106V probably benign Het
Or6b13 C T 7: 139,781,751 (GRCm39) A311T probably benign Het
Or6c201 T C 10: 128,969,484 (GRCm39) H51R probably benign Het
Osgepl1 T A 1: 53,357,339 (GRCm39) V167D probably damaging Het
Pabpc6 T C 17: 9,887,489 (GRCm39) E354G probably damaging Het
Pgghg A C 7: 140,523,303 (GRCm39) D194A probably benign Het
Podnl1 A T 8: 84,852,887 (GRCm39) H19L probably benign Het
Pold1 G T 7: 44,183,326 (GRCm39) A977E probably benign Het
Poldip3 T C 15: 83,017,395 (GRCm39) T227A probably damaging Het
Prss43 A G 9: 110,656,489 (GRCm39) S59G possibly damaging Het
Ptpn14 T A 1: 189,582,731 (GRCm39) I526N probably benign Het
Ptprb T C 10: 116,184,032 (GRCm39) S1615P possibly damaging Het
Ptpro A G 6: 137,354,130 (GRCm39) K169E probably damaging Het
Rab15 T C 12: 76,847,341 (GRCm39) E114G probably damaging Het
Rcvrn A G 11: 67,586,550 (GRCm39) E103G probably benign Het
Repin1 T A 6: 48,571,779 (GRCm39) probably benign Het
Rita1 T A 5: 120,749,448 (GRCm39) K88N probably damaging Het
Rtkn2 T C 10: 67,877,239 (GRCm39) V433A probably benign Het
Runx1t1 T C 4: 13,865,231 (GRCm39) I314T possibly damaging Het
Serpinb9c A C 13: 33,338,414 (GRCm39) S190A probably benign Het
Shank2 C A 7: 143,623,916 (GRCm39) H300Q probably benign Het
Slc4a4 A G 5: 89,297,157 (GRCm39) probably null Het
Slc5a8 T C 10: 88,745,516 (GRCm39) S375P probably benign Het
Spns3 C A 11: 72,428,027 (GRCm39) W251L probably damaging Het
Spta1 A G 1: 174,067,789 (GRCm39) N2072S possibly damaging Het
Sptbn1 A G 11: 30,074,016 (GRCm39) V1351A probably benign Het
Sytl2 A T 7: 90,030,523 (GRCm39) probably benign Het
Tax1bp1 A G 6: 52,706,478 (GRCm39) probably benign Het
Tg A G 15: 66,568,435 (GRCm39) D1374G probably benign Het
Tlr1 A G 5: 65,083,567 (GRCm39) S337P probably damaging Het
Trp63 A T 16: 25,686,977 (GRCm39) D303V probably damaging Het
Ttn G A 2: 76,683,250 (GRCm39) probably benign Het
Txndc5 T C 13: 38,712,160 (GRCm39) probably null Het
Vmn2r77 T G 7: 86,451,015 (GRCm39) D300E possibly damaging Het
Zfp729a A T 13: 67,768,365 (GRCm39) N621K probably benign Het
Other mutations in BC106179
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00089:BC106179 APN 16 23,043,022 (GRCm39) unclassified probably benign
IGL01343:BC106179 APN 16 23,043,037 (GRCm39) unclassified probably benign
IGL02861:BC106179 APN 16 23,042,746 (GRCm39) unclassified probably benign
R5481:BC106179 UTSW 16 23,042,918 (GRCm39) unclassified probably benign
R8222:BC106179 UTSW 16 23,043,055 (GRCm39) missense noncoding transcript
Predicted Primers PCR Primer
(F):5'- TCAGTCTTTCGGAAGTGGTC -3'
(R):5'- CTTACCAGAGTGCTTGTCCTGG -3'

Sequencing Primer
(F):5'- GGTAATCAGAGATGGTCAGACTGCC -3'
(R):5'- TCCCCCAACATTAAGTGT -3'
Posted On 2016-06-06