Incidental Mutation 'R5609:BC049730'
ID437965
Institutional Source Beutler Lab
Gene Symbol BC049730
Ensembl Gene ENSMUSG00000045587
Gene NamecDNA sequence BC049730
Synonyms
MMRRC Submission 043158-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.037) question?
Stock #R5609 (G1)
Quality Score225
Status Not validated
Chromosome7
Chromosomal Location24709242-24714535 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 24714286 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Serine at position 242 (R242S)
Ref Sequence ENSEMBL: ENSMUSP00000053275 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051714] [ENSMUST00000205376] [ENSMUST00000206826]
Predicted Effect possibly damaging
Transcript: ENSMUST00000051714
AA Change: R242S

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000053275
Gene: ENSMUSG00000045587
AA Change: R242S

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Pfam:UPAR_LY6 141 219 3.5e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000205376
Predicted Effect probably benign
Transcript: ENSMUST00000206826
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5330417C22Rik T A 3: 108,471,415 I408F probably damaging Het
Abca13 T C 11: 9,403,874 I3732T probably benign Het
Ago1 C A 4: 126,461,037 K127N possibly damaging Het
Akap8l T C 17: 32,338,400 N79S probably damaging Het
Ano5 T C 7: 51,593,637 L836P probably damaging Het
AY358078 A G 14: 51,804,608 T147A unknown Het
Cabp4 T C 19: 4,139,252 D102G probably benign Het
Cdc34 C T 10: 79,684,821 R61C probably damaging Het
Chac1 A G 2: 119,351,406 K2E unknown Het
Cltc C T 11: 86,730,267 V305I probably damaging Het
Cog7 T C 7: 121,925,460 T704A probably benign Het
Cux1 A G 5: 136,392,320 V184A probably damaging Het
Daglb A T 5: 143,478,519 T262S probably benign Het
Dglucy A G 12: 100,787,646 I12V probably null Het
Dnah7a A G 1: 53,582,594 V1124A probably benign Het
Eef2 C CN 10: 81,178,769 probably null Het
Eif3k C A 7: 28,981,708 A9S probably benign Het
Gli3 A T 13: 15,548,453 M60L possibly damaging Het
Hk1 C T 10: 62,342,551 E4K probably benign Het
Kmt2b C A 7: 30,577,145 V1701L probably damaging Het
Lrp1b T C 2: 41,341,795 H1107R probably damaging Het
Ncor1 A G 11: 62,358,853 probably null Het
Olfr191 T A 16: 59,086,076 M136L possibly damaging Het
Olfr814 T G 10: 129,874,738 R6S probably benign Het
Plekhg4 G A 8: 105,379,502 probably null Het
Pmfbp1 G T 8: 109,525,107 E327D probably damaging Het
Slc22a17 G A 14: 54,908,970 P63L probably damaging Het
Slc37a1 G A 17: 31,338,008 V383M possibly damaging Het
Slc9a9 T A 9: 94,809,937 Y182N probably damaging Het
Slx4ip A G 2: 137,000,242 D29G probably damaging Het
St3gal5 T C 6: 72,153,462 V319A possibly damaging Het
Tbc1d10c C T 19: 4,189,882 M76I possibly damaging Het
Thrb C A 14: 18,033,526 H416N probably benign Het
Timp2 T A 11: 118,320,161 D60V probably damaging Het
Ubxn6 C T 17: 56,069,745 E216K probably benign Het
Unc79 T C 12: 103,128,268 M1977T probably benign Het
Uri1 G A 7: 37,963,529 R347* probably null Het
Vmn1r73 G A 7: 11,756,664 W136* probably null Het
Vmn2r124 T C 17: 18,073,840 Y730H probably benign Het
Wnk4 C T 11: 101,275,636 probably benign Het
Zfhx4 A G 3: 5,403,619 N2971D probably damaging Het
Other mutations in BC049730
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00847:BC049730 APN 7 24714248 missense probably benign 0.01
IGL01353:BC049730 APN 7 24714237 missense probably damaging 0.98
IGL01603:BC049730 APN 7 24712529 missense probably damaging 1.00
IGL03084:BC049730 APN 7 24714180 missense possibly damaging 0.80
R0453:BC049730 UTSW 7 24714287 missense probably benign 0.18
R0657:BC049730 UTSW 7 24713447 missense probably benign 0.00
R0946:BC049730 UTSW 7 24713742 missense probably benign 0.00
R1076:BC049730 UTSW 7 24713742 missense probably benign 0.00
R1081:BC049730 UTSW 7 24713542 unclassified probably null
R1926:BC049730 UTSW 7 24714116 missense probably damaging 1.00
R2571:BC049730 UTSW 7 24713394 missense probably benign 0.27
R3014:BC049730 UTSW 7 24713396 missense possibly damaging 0.93
R3832:BC049730 UTSW 7 24714287 missense probably benign 0.18
R4197:BC049730 UTSW 7 24713694 missense probably benign 0.01
R4705:BC049730 UTSW 7 24713509 missense probably damaging 0.99
R6166:BC049730 UTSW 7 24714219 missense probably benign 0.00
R6385:BC049730 UTSW 7 24714110 missense probably damaging 0.97
Predicted Primers PCR Primer
(F):5'- CTTCTAGGTGACCTCAGTGC -3'
(R):5'- CAACGTGTGCTTGTCTGCTC -3'

Sequencing Primer
(F):5'- CTAGGTGACCTCAGTGCCATTTTTAG -3'
(R):5'- CTGGGTTCAGTGGCTCCCAAG -3'
Posted On2016-10-26