Incidental Mutation 'R8336:BC048671'
ID 644611
Institutional Source Beutler Lab
Gene Symbol BC048671
Ensembl Gene ENSMUSG00000049694
Gene Name cDNA sequence BC048671
Synonyms
MMRRC Submission 067729-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.049) question?
Stock # R8336 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 90278201-90282430 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 90279849 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 24 (V24A)
Ref Sequence ENSEMBL: ENSMUSP00000058483 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054799] [ENSMUST00000167550]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000054799
AA Change: V24A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000058483
Gene: ENSMUSG00000049694
AA Change: V24A

DomainStartEndE-ValueType
low complexity region 4 18 N/A INTRINSIC
low complexity region 81 92 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000167550
AA Change: V24A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000132052
Gene: ENSMUSG00000049694
AA Change: V24A

DomainStartEndE-ValueType
low complexity region 4 18 N/A INTRINSIC
low complexity region 81 92 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930578I06Rik T C 14: 64,223,545 (GRCm39) K77R probably benign Het
Acta1 C T 8: 124,619,310 (GRCm39) E261K possibly damaging Het
Adamts19 A T 18: 59,140,444 (GRCm39) I848L possibly damaging Het
Adck1 C A 12: 88,335,249 (GRCm39) T45K probably damaging Het
Agl A G 3: 116,566,495 (GRCm39) F291S Het
Brsk2 C T 7: 141,538,211 (GRCm39) A119V probably damaging Het
Cacnb1 A G 11: 97,894,119 (GRCm39) Y468H probably benign Het
Cep89 A T 7: 35,127,141 (GRCm39) K501* probably null Het
Ces2a T A 8: 105,465,665 (GRCm39) F306I probably damaging Het
Col6a4 T A 9: 105,952,528 (GRCm39) I457F possibly damaging Het
Cts7 A G 13: 61,504,723 (GRCm39) probably null Het
Dnah12 C A 14: 26,432,220 (GRCm39) T444K probably benign Het
Dusp5 T C 19: 53,529,406 (GRCm39) S270P probably damaging Het
Eppk1 T TCAC 15: 75,992,152 (GRCm39) probably null Het
Esam T A 9: 37,448,362 (GRCm39) I267K probably benign Het
Fastkd1 A G 2: 69,542,489 (GRCm39) V106A probably damaging Het
Fsip2 A G 2: 82,821,099 (GRCm39) T5611A possibly damaging Het
Gcc2 A G 10: 58,108,189 (GRCm39) D933G probably damaging Het
Gm16506 T A 14: 43,964,825 (GRCm39) H39L Het
Gm5145 A T 17: 20,790,687 (GRCm39) N22Y probably damaging Het
Gm6465 A T 5: 11,896,780 (GRCm39) R50W probably damaging Het
Hivep1 C A 13: 42,309,405 (GRCm39) D548E probably benign Het
Hnrnpl C A 7: 28,513,462 (GRCm39) S178R possibly damaging Het
Hsp90b1 A G 10: 86,526,968 (GRCm39) *803Q probably null Het
Kdm5a A G 6: 120,396,407 (GRCm39) N1088S probably benign Het
Klk1b11 C T 7: 43,425,865 (GRCm39) probably benign Het
Kmt5b T C 19: 3,865,531 (GRCm39) I865T probably damaging Het
Map3k10 C A 7: 27,372,884 (GRCm39) R189L probably benign Het
Nav3 A G 10: 109,603,430 (GRCm39) S1040P probably damaging Het
Neb T C 2: 52,163,902 (GRCm39) S2019G probably damaging Het
Nfrkb T C 9: 31,314,815 (GRCm39) V545A possibly damaging Het
Nkd2 G T 13: 73,969,192 (GRCm39) P425T probably damaging Het
Or5h26 T C 16: 58,987,918 (GRCm39) Y196C possibly damaging Het
Ostm1 A G 10: 42,572,334 (GRCm39) Y239C probably damaging Het
Pabpc1l A G 2: 163,874,204 (GRCm39) D203G probably benign Het
Pcdhb21 T A 18: 37,648,942 (GRCm39) Y690* probably null Het
Pla2r1 C A 2: 60,253,027 (GRCm39) V1355F possibly damaging Het
Pms1 C T 1: 53,245,985 (GRCm39) S518N probably benign Het
Rab44 A T 17: 29,367,249 (GRCm39) *726C probably null Het
Rin1 A T 19: 5,105,013 (GRCm39) H691L possibly damaging Het
Slc30a9 T A 5: 67,473,058 (GRCm39) Y47* probably null Het
Sp9 T A 2: 73,104,796 (GRCm39) V450D possibly damaging Het
Sstr3 T C 15: 78,424,693 (GRCm39) N18S probably damaging Het
Sugct T A 13: 17,032,504 (GRCm39) Y416F probably benign Het
Tcf3 T C 10: 80,257,000 (GRCm39) T75A probably benign Het
Tenm3 A G 8: 48,746,808 (GRCm39) V999A probably damaging Het
Tfap2c T A 2: 172,399,112 (GRCm39) L453* probably null Het
Trip12 A T 1: 84,743,762 (GRCm39) M515K probably benign Het
Vstm2a G A 11: 16,207,801 (GRCm39) probably benign 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
R0053:BC048671 UTSW 6 90,282,076 (GRCm39) missense probably benign 0.02
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
R8442:BC048671 UTSW 6 90,282,095 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- GGTAGATGCAAACAAAGCAGTTTTC -3'
(R):5'- TTGTTGGCCACAGTACAGGG -3'

Sequencing Primer
(F):5'- GCAAACAAAGCAGTTTTCCTTTTGG -3'
(R):5'- ACAGTACAGGGTTCCTCAGGTG -3'
Posted On 2020-09-02