Incidental Mutation 'R0946:BC049730'
ID82102
Institutional Source Beutler Lab
Gene Symbol BC049730
Ensembl Gene ENSMUSG00000045587
Gene NamecDNA sequence BC049730
Synonyms
MMRRC Submission 039085-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.058) question?
Stock #R0946 (G1)
Quality Score225
Status Not validated
Chromosome7
Chromosomal Location24709242-24714535 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 24713742 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Arginine at position 162 (K162R)
Ref Sequence ENSEMBL: ENSMUSP00000053275 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051714] [ENSMUST00000205376] [ENSMUST00000206826]
Predicted Effect probably benign
Transcript: ENSMUST00000051714
AA Change: K162R

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000053275
Gene: ENSMUSG00000045587
AA Change: K162R

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.5%
  • 20x: 95.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700123L14Rik A T 6: 96,165,696 N122K possibly damaging Het
9230112D13Rik A G 14: 34,512,142 M64T unknown Het
Adamts15 C T 9: 30,902,197 G891R probably damaging Het
Adck5 G A 15: 76,593,286 V107I possibly damaging Het
Aoc3 G A 11: 101,332,305 V456M possibly damaging Het
Apbb1 A T 7: 105,573,855 L183Q probably benign Het
Camsap3 A G 8: 3,604,442 H693R probably benign Het
Ccdc88a A G 11: 29,456,509 T414A probably benign Het
Cdh17 T C 4: 11,795,581 V387A probably benign Het
Coasy G T 11: 101,085,870 V489F probably damaging Het
Ercc6 A T 14: 32,552,621 M574L probably benign Het
Esrrb T C 12: 86,505,824 L180P probably damaging Het
Fam83b A T 9: 76,491,397 V808D probably damaging Het
Fat3 C T 9: 15,997,804 V2301I possibly damaging Het
Gm813 C A 16: 58,614,712 R83S probably damaging Het
Gm9573 A C 17: 35,618,213 S1581A probably benign Het
Hyal4 T A 6: 24,755,913 Y43* probably null Het
Hydin C A 8: 110,531,053 L2372M probably benign Het
Lrrc4c T C 2: 97,629,464 V145A probably benign Het
Myh4 A G 11: 67,251,751 I913V possibly damaging Het
Nat10 C T 2: 103,731,374 G654D probably damaging Het
Nbn A T 4: 15,970,719 probably null Het
Oas3 T C 5: 120,769,063 Y503C unknown Het
Olfr740 C A 14: 50,453,673 T207K probably benign Het
Pappa G T 4: 65,314,792 probably null Het
Pfas A G 11: 68,993,295 probably null Het
Pfas G T 11: 68,990,747 probably null Het
Pign A T 1: 105,591,697 M500K probably benign Het
Pkhd1 T C 1: 20,199,381 K3313R probably benign Het
Ptk2b A G 14: 66,158,598 V807A probably benign Het
Ptpdc1 C T 13: 48,586,810 E382K probably damaging Het
Rfpl4b A T 10: 38,820,837 I256N probably benign Het
Skap1 C G 11: 96,541,469 S88* probably null Het
Slc4a2 T C 5: 24,435,886 S742P probably damaging Het
Supv3l1 T C 10: 62,429,820 D647G probably damaging Het
Tmem184c A C 8: 77,604,757 V121G probably damaging Het
Tonsl T C 15: 76,623,221 I118V probably benign Het
Top1 T A 2: 160,712,668 Y446* probably null Het
Trim37 A G 11: 87,146,955 R172G probably damaging Het
Vgll4 C A 6: 114,890,807 probably null Het
Vgll4 T A 6: 114,890,808 probably null Het
Vmn1r5 T G 6: 56,986,165 I275S possibly damaging Het
Vwde A T 6: 13,187,875 H584Q probably damaging Het
Zbtb14 C A 17: 69,388,502 F398L probably damaging Het
Zfp282 T A 6: 47,880,009 W59R probably damaging Het
Zfp329 T A 7: 12,811,468 N43I probably benign Het
Zswim2 T A 2: 83,923,759 T186S probably benign 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
R1076:BC049730 UTSW 7 24713742 missense probably benign 0.00
R1081:BC049730 UTSW 7 24713542 splice site 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
R5609:BC049730 UTSW 7 24714286 missense possibly damaging 0.53
R6166:BC049730 UTSW 7 24714219 missense probably benign 0.00
R6385:BC049730 UTSW 7 24714110 missense probably damaging 0.97
R7477:BC049730 UTSW 7 24714248 missense probably benign 0.01
R8022:BC049730 UTSW 7 24714174 missense possibly damaging 0.92
R8169:BC049730 UTSW 7 24712575 missense probably benign 0.15
Predicted Primers PCR Primer
(F):5'- AGCACCAAGGTCCTACTTGACCTC -3'
(R):5'- ACACCCAGGGTTATACTCTCCAGC -3'

Sequencing Primer
(F):5'- AAGCTTTCAGGTATGTGACCC -3'
(R):5'- GGGTTATACTCTCCAGCCACAC -3'
Posted On2013-11-08