Incidental Mutation 'R1165:Coro1b'
ID100984
Institutional Source Beutler Lab
Gene Symbol Coro1b
Ensembl Gene ENSMUSG00000024835
Gene Namecoronin, actin binding protein 1B
Synonymscoronin 2
MMRRC Submission 039238-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R1165 (G1)
Quality Score225
Status Validated
Chromosome19
Chromosomal Location4148619-4154035 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 4149902 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Asparagine at position 81 (H81N)
Ref Sequence ENSEMBL: ENSMUSP00000118450 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000008893] [ENSMUST00000061086] [ENSMUST00000096338] [ENSMUST00000123874]
Predicted Effect probably damaging
Transcript: ENSMUST00000008893
AA Change: H81N

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000008893
Gene: ENSMUSG00000024835
AA Change: H81N

DomainStartEndE-ValueType
DUF1899 5 69 1.48e-37 SMART
WD40 68 111 2.1e-7 SMART
WD40 121 161 1.44e-5 SMART
WD40 164 204 4.08e-5 SMART
DUF1900 258 392 6.41e-88 SMART
coiled coil region 445 482 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000061086
SMART Domains Protein: ENSMUSP00000053412
Gene: ENSMUSG00000045826

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
transmembrane domain 32 54 N/A INTRINSIC
Pfam:PTPRCAP 58 197 8.1e-51 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000096338
SMART Domains Protein: ENSMUSP00000094062
Gene: ENSMUSG00000044724

DomainStartEndE-ValueType
Pfam:7tm_1 47 295 7e-19 PFAM
low complexity region 347 361 N/A INTRINSIC
low complexity region 419 433 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000123874
AA Change: H81N

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000118450
Gene: ENSMUSG00000024835
AA Change: H81N

DomainStartEndE-ValueType
DUF1899 5 69 1.48e-37 SMART
WD40 68 111 2.1e-7 SMART
WD40 121 161 1.44e-5 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134194
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135498
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140419
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142878
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143613
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148189
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148733
Meta Mutation Damage Score 0.8880 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 96.0%
  • 20x: 91.4%
Validation Efficiency 98% (50/51)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Members of the coronin family, such as CORO1B, are WD repeat-containing actin-binding proteins that regulate cell motility (Cai et al., 2005 [PubMed 16027158]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal mast cell degranulation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1520401A03Rik A C 17: 23,710,515 probably benign Het
2210408I21Rik T G 13: 77,334,287 C1209G probably benign Het
Abcg2 C A 6: 58,678,300 L407I probably benign Het
Adtrp A G 13: 41,814,303 V56A probably damaging Het
Angptl6 T G 9: 20,878,308 N96T probably benign Het
Ank3 C A 10: 69,898,302 N780K possibly damaging Het
AU040320 A T 4: 126,823,640 probably benign Het
Best2 C T 8: 85,011,160 R202H probably benign Het
Bod1l A T 5: 41,821,053 S973T probably benign Het
Brca2 T A 5: 150,542,747 V1992E probably damaging Het
Casp8ap2 C T 4: 32,640,563 P539L probably benign Het
Ccr1 A T 9: 123,963,494 V333E possibly damaging Het
Celf5 A T 10: 81,471,338 V83E probably damaging Het
Col15a1 T C 4: 47,257,275 probably benign Het
Cwc22 A T 2: 77,903,898 S686T probably damaging Het
Cyp2d26 C A 15: 82,794,041 G45W probably damaging Het
Dysf T A 6: 84,067,069 N297K probably damaging Het
Edem1 T A 6: 108,851,253 L513Q probably damaging Het
Erich1 G A 8: 14,090,530 probably benign Het
Fam196b A G 11: 34,402,740 T261A probably benign Het
Fam91a1 T C 15: 58,430,669 V286A possibly damaging Het
Fdxr C A 11: 115,271,782 probably benign Het
Gas7 T C 11: 67,670,686 probably benign Het
Glb1l2 T C 9: 26,794,101 D151G probably damaging Het
Gm14410 A C 2: 177,193,489 Y327* probably null Het
H6pd A G 4: 149,995,956 I136T possibly damaging Het
Hectd1 A T 12: 51,764,164 probably benign Het
Hipk1 T C 3: 103,761,524 T519A possibly damaging Het
Hpd A G 5: 123,176,090 probably null Het
Olfr371 T A 8: 85,230,771 I92N probably damaging Het
Olfr809 A G 10: 129,776,433 D188G probably damaging Het
Pcdha11 A G 18: 37,007,704 probably benign Het
Pdgfrb T C 18: 61,064,002 I170T probably benign Het
Rasgrp1 A T 2: 117,284,939 F723I possibly damaging Het
Retnlg A G 16: 48,873,654 T58A possibly damaging Het
Rrs1 G A 1: 9,545,767 E82K probably damaging Het
Rtel1 A G 2: 181,334,939 K243E probably benign Het
Slc19a2 G A 1: 164,263,445 G274D probably damaging Het
Slc22a27 T C 19: 7,909,694 probably null Het
Slc6a1 T C 6: 114,311,829 F266L probably damaging Het
Snx25 T G 8: 46,035,715 I868L probably damaging Het
Spag16 A G 1: 69,996,877 I355V probably benign Het
Tmem198 A T 1: 75,479,932 probably benign Het
Traf3ip3 A C 1: 193,184,478 S349A probably damaging Het
Trim17 A G 11: 58,971,215 N358D possibly damaging Het
Trmu A G 15: 85,892,674 T196A probably damaging Het
Tsen2 A G 6: 115,561,435 Y291C probably damaging Het
Vps13d A G 4: 145,126,471 F2358L probably benign Het
Wnt2 T C 6: 17,989,947 H317R probably benign Het
Zfp120 A T 2: 150,119,929 V33E probably damaging Het
Zfp407 C T 18: 84,559,773 A1072T probably benign Het
Other mutations in Coro1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02986:Coro1b APN 19 4149471 missense possibly damaging 0.93
IGL03411:Coro1b APN 19 4150226 splice site probably benign
R0189:Coro1b UTSW 19 4153251 missense probably damaging 1.00
R0410:Coro1b UTSW 19 4149363 missense probably damaging 1.00
R1302:Coro1b UTSW 19 4149377 missense probably damaging 1.00
R1519:Coro1b UTSW 19 4150584 missense possibly damaging 0.95
R4085:Coro1b UTSW 19 4153619 missense probably benign 0.02
R4528:Coro1b UTSW 19 4149981 missense probably benign 0.23
R4692:Coro1b UTSW 19 4149419 missense probably damaging 1.00
R4919:Coro1b UTSW 19 4150710 missense possibly damaging 0.85
R5433:Coro1b UTSW 19 4153450 missense probably benign
R5650:Coro1b UTSW 19 4150611 missense possibly damaging 0.57
R5870:Coro1b UTSW 19 4149385 missense probably damaging 1.00
R6862:Coro1b UTSW 19 4150771 missense probably benign 0.32
R7332:Coro1b UTSW 19 4149357 missense probably benign 0.00
R7511:Coro1b UTSW 19 4152526 missense probably damaging 1.00
R7559:Coro1b UTSW 19 4150221 critical splice donor site probably null
Predicted Primers
Posted On2014-01-15