Incidental Mutation 'R0053:BC048671'
ID 16065
Institutional Source Beutler Lab
Gene Symbol BC048671
Ensembl Gene ENSMUSG00000049694
Gene Name cDNA sequence BC048671
Synonyms
MMRRC Submission 038347-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.048) question?
Stock # R0053 (G1)
Quality Score
Status Validated
Chromosome 6
Chromosomal Location 90278201-90282430 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 90282076 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 78 (V78I)
Ref Sequence ENSEMBL: ENSMUSP00000132052 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054799] [ENSMUST00000070890] [ENSMUST00000167550]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000054799
AA Change: V78I

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000058483
Gene: ENSMUSG00000049694
AA Change: V78I

DomainStartEndE-ValueType
low complexity region 4 18 N/A INTRINSIC
low complexity region 81 92 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000070890
SMART Domains Protein: ENSMUSP00000064897
Gene: ENSMUSG00000056643

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
Pfam:Sulfotransfer_2 94 328 7.5e-57 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000167550
AA Change: V78I

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000132052
Gene: ENSMUSG00000049694
AA Change: V78I

DomainStartEndE-ValueType
low complexity region 4 18 N/A INTRINSIC
low complexity region 81 92 N/A INTRINSIC
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 89.7%
  • 3x: 87.2%
  • 10x: 81.1%
  • 20x: 72.5%
Validation Efficiency 94% (72/77)
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp10b A G 11: 43,107,391 (GRCm39) probably benign Het
AY761185 A T 8: 21,434,546 (GRCm39) probably benign Het
Cadm1 C T 9: 47,710,712 (GRCm39) T205I probably damaging Het
Capn3 A G 2: 120,322,318 (GRCm39) I413V possibly damaging Het
Cblb C T 16: 51,963,164 (GRCm39) T369I probably damaging Het
Ccdc54 T A 16: 50,410,597 (GRCm39) N223I probably benign Het
Cdc25c A G 18: 34,868,488 (GRCm39) V294A probably benign Het
Cep170 A T 1: 176,609,946 (GRCm39) S122T possibly damaging Het
Chd1 A G 17: 15,967,451 (GRCm39) N849D probably damaging Het
Cspg4b T C 13: 113,505,023 (GRCm39) W2051R probably benign Het
Dst A G 1: 34,333,631 (GRCm39) probably null Het
Fbxw9 T A 8: 85,791,083 (GRCm39) L250Q probably damaging Het
Fry C A 5: 150,384,842 (GRCm39) probably benign Het
Gm19993 A G 1: 19,905,272 (GRCm39) Het
Gpr75 A T 11: 30,842,571 (GRCm39) Q492L possibly damaging Het
Hc C T 2: 34,947,287 (GRCm39) E76K probably benign Het
Hivep2 T C 10: 14,007,865 (GRCm39) C1488R probably damaging Het
Inava C T 1: 136,155,288 (GRCm39) V106I probably benign Het
Insr A G 8: 3,205,683 (GRCm39) S1369P probably damaging Het
Insrr A C 3: 87,707,759 (GRCm39) D67A probably damaging Het
Irf2 T A 8: 47,271,886 (GRCm39) Y158N probably benign Het
Izumo3 A T 4: 92,033,267 (GRCm39) Y110N probably damaging Het
Katnbl1 A G 2: 112,234,586 (GRCm39) R23G probably benign Het
Kif7 A G 7: 79,351,927 (GRCm39) V945A probably benign Het
Lamb2 T A 9: 108,363,936 (GRCm39) C987* probably null Het
Mmp14 T A 14: 54,676,109 (GRCm39) probably benign Het
Mycbpap A G 11: 94,402,562 (GRCm39) Y258H probably damaging Het
Nav3 A G 10: 109,602,778 (GRCm39) probably benign Het
Nr5a1 C T 2: 38,584,178 (GRCm39) G414R probably damaging Het
Parp10 T A 15: 76,126,446 (GRCm39) L247F probably damaging Het
Pcsk6 C T 7: 65,633,451 (GRCm39) probably benign Het
Pgap3 A T 11: 98,281,924 (GRCm39) V129D probably benign Het
Plcb1 A G 2: 135,136,835 (GRCm39) E310G probably benign Het
Plin3 T C 17: 56,586,892 (GRCm39) D385G probably damaging Het
Pole A T 5: 110,441,206 (GRCm39) D220V probably damaging Het
Resf1 T A 6: 149,229,088 (GRCm39) D711E probably benign Het
Rufy1 A T 11: 50,292,292 (GRCm39) M499K probably benign Het
Scn1a T G 2: 66,130,119 (GRCm39) D1232A probably benign Het
Sf3b1 G A 1: 55,039,532 (GRCm39) Q698* probably null Het
Shprh A T 10: 11,070,116 (GRCm39) probably null Het
Snd1 C A 6: 28,745,334 (GRCm39) probably benign Het
Stab1 C T 14: 30,862,644 (GRCm39) A2260T possibly damaging Het
Strn T C 17: 78,964,363 (GRCm39) H687R possibly damaging Het
Tgfb3 A T 12: 86,124,603 (GRCm39) I35N probably damaging Het
Tnks2 T C 19: 36,852,765 (GRCm39) S166P probably damaging Het
Ttll9 A T 2: 152,804,426 (GRCm39) probably benign Het
Tyw5 G A 1: 57,440,597 (GRCm39) T55M probably damaging Het
Usp19 A G 9: 108,374,369 (GRCm39) probably null Het
Wdfy3 A T 5: 101,992,480 (GRCm39) M3384K probably damaging Het
Zfp13 A T 17: 23,795,122 (GRCm39) I483N probably damaging Het
Other mutations in BC048671
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00423:BC048671 APN 6 90,280,200 (GRCm39) missense probably benign 0.02
PIT4449001:BC048671 UTSW 6 90,282,145 (GRCm39) missense probably damaging 0.99
R7088:BC048671 UTSW 6 90,280,222 (GRCm39) missense probably null 0.87
R7396:BC048671 UTSW 6 90,280,273 (GRCm39) missense probably damaging 1.00
R8336:BC048671 UTSW 6 90,279,849 (GRCm39) missense probably benign
R8442:BC048671 UTSW 6 90,282,095 (GRCm39) missense probably benign 0.00
Posted On 2013-01-08