Incidental Mutation 'R5463:BC048507'
ID 433119
Institutional Source Beutler Lab
Gene Symbol BC048507
Ensembl Gene ENSMUSG00000064063
Gene Name cDNA sequence BC048507
Synonyms
MMRRC Submission 043025-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.188) question?
Stock # R5463 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 68011445-68012042 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 68011817 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 65 (Y65H)
Ref Sequence ENSEMBL: ENSMUSP00000077564 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078471]
AlphaFold Q80ZS7
Predicted Effect probably damaging
Transcript: ENSMUST00000078471
AA Change: Y65H

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000077564
Gene: ENSMUSG00000064063
AA Change: Y65H

DomainStartEndE-ValueType
Dynein_light 1 88 1.05e-56 SMART
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930009A15Rik A C 10: 115,406,104 (GRCm39) probably benign Het
Arhgap29 T A 3: 121,782,200 (GRCm39) S71T possibly damaging Het
C3 T C 17: 57,518,720 (GRCm39) E1221G probably benign Het
Calb1 G T 4: 15,885,656 (GRCm39) V76L probably benign Het
Crybg1 T A 10: 43,879,689 (GRCm39) K500* probably null Het
Csmd1 G A 8: 16,034,860 (GRCm39) T2437I probably benign Het
Cyp27b1 G A 10: 126,887,966 (GRCm39) V493I possibly damaging Het
Cyp3a44 T A 5: 145,740,554 (GRCm39) T29S probably benign Het
Dclk3 T C 9: 111,298,328 (GRCm39) V624A probably benign Het
Dnah6 T C 6: 73,069,140 (GRCm39) I2464V probably benign Het
Dock6 A T 9: 21,721,254 (GRCm39) probably null Het
Erap1 C T 13: 74,794,533 (GRCm39) T64I probably damaging Het
Erbb3 A T 10: 128,405,948 (GRCm39) Y1156* probably null Het
Fam168a G A 7: 100,484,602 (GRCm39) A231T probably benign Het
Farp1 C T 14: 121,472,489 (GRCm39) P208L probably damaging Het
Fbxo30 T C 10: 11,166,813 (GRCm39) Y512H probably damaging Het
Gcnt2 A T 13: 41,071,650 (GRCm39) I98F possibly damaging Het
Got1 G A 19: 43,493,036 (GRCm39) T295I probably benign Het
Herc2 A G 7: 55,844,010 (GRCm39) E3538G probably damaging Het
Kcnmb4 A T 10: 116,309,410 (GRCm39) V6E probably benign Het
Kmt2d G A 15: 98,749,990 (GRCm39) probably benign Het
Letmd1 C T 15: 100,367,009 (GRCm39) A2V probably damaging Het
Lynx1 G T 15: 74,623,462 (GRCm39) Y28* probably null Het
Mast1 T C 8: 85,652,136 (GRCm39) E304G probably damaging Het
Nipa1 G A 7: 55,629,205 (GRCm39) Q303* probably null Het
Nomo1 G A 7: 45,712,426 (GRCm39) R657H possibly damaging Het
Or51b4 C T 7: 103,530,541 (GRCm39) R303H probably benign Het
Pcdha7 T A 18: 37,108,628 (GRCm39) L551Q probably damaging Het
Pik3r4 T C 9: 105,525,930 (GRCm39) Y267H probably damaging Het
Pnliprp1 A G 19: 58,723,168 (GRCm39) D223G probably damaging Het
Prph G A 15: 98,953,281 (GRCm39) G65D probably benign Het
Pskh1 T C 8: 106,639,464 (GRCm39) L48P probably benign Het
Ptdss1 C A 13: 67,093,365 (GRCm39) N68K probably damaging Het
Rexo5 G A 7: 119,433,526 (GRCm39) G495R probably damaging Het
Ryr1 C A 7: 28,723,448 (GRCm39) A4204S possibly damaging Het
Serpinb9 G A 13: 33,199,659 (GRCm39) S318N probably damaging Het
Slc22a8 G A 19: 8,586,638 (GRCm39) R383H probably benign Het
Trim26 A G 17: 37,162,016 (GRCm39) H145R probably damaging Het
Trps1 A T 15: 50,695,286 (GRCm39) Y286* probably null Het
Vmn1r181 A G 7: 23,683,787 (GRCm39) N84S probably benign Het
Wdfy4 G T 14: 32,873,689 (GRCm39) Q207K probably benign Het
Whrn G A 4: 63,351,053 (GRCm39) T427I probably benign Het
Other mutations in BC048507
AlleleSourceChrCoordTypePredicted EffectPPH Score
R2252:BC048507 UTSW 13 68,011,626 (GRCm39) start codon destroyed probably null 0.97
R2972:BC048507 UTSW 13 68,011,749 (GRCm39) missense probably benign 0.03
R2973:BC048507 UTSW 13 68,011,749 (GRCm39) missense probably benign 0.03
R2974:BC048507 UTSW 13 68,011,749 (GRCm39) missense probably benign 0.03
R6075:BC048507 UTSW 13 68,011,823 (GRCm39) missense probably benign 0.07
R6798:BC048507 UTSW 13 68,011,683 (GRCm39) missense probably benign 0.29
R7053:BC048507 UTSW 13 68,011,772 (GRCm39) missense probably benign 0.06
R8887:BC048507 UTSW 13 68,011,628 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- GTAACCATGTGCGATCGGAAGG -3'
(R):5'- CACAAACTTGTACAGAGAATGAGGC -3'

Sequencing Primer
(F):5'- GCAGTGATAAAAACTGTAGACATGTC -3'
(R):5'- TTGTACAGAGAATGAGGCCCTCTAC -3'
Posted On 2016-10-06