Incidental Mutation 'R8442:BC048671'
ID 654247
Institutional Source Beutler Lab
Gene Symbol BC048671
Ensembl Gene ENSMUSG00000049694
Gene Name cDNA sequence BC048671
Synonyms
MMRRC Submission 067779-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.048) question?
Stock # R8442 (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 90282095 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 84 (F84S)
Ref Sequence ENSEMBL: ENSMUSP00000058483 (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: F84S

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000058483
Gene: ENSMUSG00000049694
AA Change: F84S

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: F84S

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000132052
Gene: ENSMUSG00000049694
AA Change: F84S

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: 99.7%
  • 20x: 98.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apof T C 10: 128,104,891 (GRCm39) L15P probably damaging Het
Bsn G A 9: 107,988,651 (GRCm39) A2367V probably benign Het
C2cd4a C T 9: 67,739,039 (GRCm39) M1I probably null Het
Cd72 T A 4: 43,450,109 (GRCm39) K266N possibly damaging Het
Col12a1 A G 9: 79,542,781 (GRCm39) F2328S probably damaging Het
Cubn T C 2: 13,318,855 (GRCm39) Y2948C probably damaging Het
Dagla A G 19: 10,240,456 (GRCm39) probably null Het
Dagla A G 19: 10,248,883 (GRCm39) F24L probably damaging Het
Dnah14 A G 1: 181,568,849 (GRCm39) T2860A probably damaging Het
Efcab2 A T 1: 178,265,001 (GRCm39) K22N probably benign Het
Flt1 C T 5: 147,512,983 (GRCm39) R1118Q probably damaging Het
Foxl1 T A 8: 121,855,224 (GRCm39) L175Q possibly damaging Het
Gm572 G T 4: 148,743,450 (GRCm39) R140L possibly damaging Het
Gucy2g T C 19: 55,205,833 (GRCm39) R676G probably benign Het
Hmcn2 C A 2: 31,281,088 (GRCm39) L1867I probably benign Het
Hspb8 T C 5: 116,560,504 (GRCm39) Y12C probably damaging Het
Igf2bp2 A C 16: 21,883,841 (GRCm39) probably null Het
Igkv9-129 T A 6: 67,816,784 (GRCm39) M3K probably damaging Het
Il5 C T 11: 53,612,651 (GRCm39) P54S probably damaging Het
Kif18a T C 2: 109,125,318 (GRCm39) I245T possibly damaging Het
Kif2b T A 11: 91,467,140 (GRCm39) N381I possibly damaging Het
Lrrc49 A G 9: 60,500,908 (GRCm39) F679S probably benign Het
Med24 A G 11: 98,598,383 (GRCm39) F742L probably benign Het
Msh3 T C 13: 92,349,020 (GRCm39) T1071A probably benign Het
Neb T C 2: 52,177,220 (GRCm39) T1374A probably damaging Het
Or4d6 A T 19: 12,086,091 (GRCm39) I47N probably damaging Het
Or5p75-ps1 A C 7: 108,107,851 (GRCm39) Q196P unknown Het
P3h2 A G 16: 25,805,955 (GRCm39) I296T probably benign Het
Pcdhb21 A T 18: 37,646,841 (GRCm39) probably benign Het
Prkab2 G T 3: 97,566,002 (GRCm39) G25C probably damaging Het
Ptprm C A 17: 67,251,312 (GRCm39) A522S possibly damaging Het
Scarf2 A G 16: 17,624,231 (GRCm39) D512G probably benign Het
Sema3d A G 5: 12,592,608 (GRCm39) T346A probably damaging Het
Septin7 T C 9: 25,163,938 (GRCm39) S2P unknown Het
Sfrp5 A G 19: 42,187,236 (GRCm39) V278A probably benign Het
Taar1 T A 10: 23,796,522 (GRCm39) C73* probably null Het
Tek T A 4: 94,715,922 (GRCm39) L448Q probably benign Het
Tmem132a A C 19: 10,835,833 (GRCm39) L899R probably damaging Het
Txndc5 T C 13: 38,711,845 (GRCm39) probably benign Het
Uck1 C A 2: 32,150,153 (GRCm39) probably benign Het
Uggt1 A G 1: 36,212,568 (GRCm39) S925P probably damaging Het
Unc13d A T 11: 115,958,657 (GRCm39) D786E probably damaging Het
Vmn1r26 T C 6: 57,985,728 (GRCm39) T154A possibly 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
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
R8336:BC048671 UTSW 6 90,279,849 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- GTGTGTGAAGCCACTTCCTG -3'
(R):5'- CCTTGAAAAGCAGGCATTCTAGG -3'

Sequencing Primer
(F):5'- CAGCCATTGGTTACAGAGGC -3'
(R):5'- CTAGGGAATGCTCTCAGGTGGC -3'
Posted On 2020-10-20