Incidental Mutation 'IGL01102:Coro1c'
ID51107
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Coro1c
Ensembl Gene ENSMUSG00000004530
Gene Namecoronin, actin binding protein 1C
Synonymscoronin 3
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01102
Quality Score
Status
Chromosome5
Chromosomal Location113842436-113908758 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 113849614 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Lysine at position 222 (M222K)
Ref Sequence ENSEMBL: ENSMUSP00000004646 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004646] [ENSMUST00000164980]
Predicted Effect probably benign
Transcript: ENSMUST00000004646
AA Change: M222K

PolyPhen 2 Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000004646
Gene: ENSMUSG00000004530
AA Change: M222K

DomainStartEndE-ValueType
DUF1899 3 67 2.53e-36 SMART
WD40 66 109 3.99e-8 SMART
WD40 119 159 1.09e-5 SMART
WD40 162 202 3.09e-5 SMART
DUF1900 256 390 4.5e-92 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000111283
Predicted Effect noncoding transcript
Transcript: ENSMUST00000163995
Predicted Effect probably benign
Transcript: ENSMUST00000164980
SMART Domains Protein: ENSMUSP00000129314
Gene: ENSMUSG00000004530

DomainStartEndE-ValueType
DUF1899 3 67 2.53e-36 SMART
WD40 66 109 3.99e-8 SMART
Pfam:WD40 120 149 8e-4 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000166647
Predicted Effect noncoding transcript
Transcript: ENSMUST00000168493
Predicted Effect noncoding transcript
Transcript: ENSMUST00000168634
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172016
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Feb 2013]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca2 C T 2: 25,433,956 probably benign Het
Bloc1s2-ps C T 2: 52,619,902 A50V probably benign Het
Col4a3 A G 1: 82,669,720 D455G unknown Het
Col4a3 A G 1: 82,670,255 I496V unknown Het
Dnah5 T A 15: 28,410,003 probably null Het
Emc4 C A 2: 112,367,526 probably benign Het
Fam160a1 A G 3: 85,665,501 probably benign Het
Fcer2a T C 8: 3,688,842 D32G possibly damaging Het
Garnl3 T C 2: 33,006,816 K559E probably damaging Het
Gckr T C 5: 31,309,037 L452P probably damaging Het
Gm13119 A G 4: 144,363,625 I412V probably benign Het
Gm4841 A G 18: 60,270,052 V323A probably damaging Het
Gm6902 T A 7: 23,273,662 I147L probably benign Het
Gpr75 T C 11: 30,891,755 V220A probably benign Het
Hdac6 A G X: 7,946,998 S42P probably benign Het
Hdhd2 A G 18: 76,956,911 N128S probably damaging Het
Hsd3b2 G T 3: 98,711,679 R317S probably damaging Het
Il23r T A 6: 67,423,925 I474F probably damaging Het
Itga5 T C 15: 103,346,675 Y954C probably benign Het
Itgam T C 7: 128,080,273 F196L possibly damaging Het
Mapkbp1 T C 2: 120,021,858 V957A possibly damaging Het
Mblac2 T C 13: 81,750,006 M167T probably damaging Het
Mterf4 C T 1: 93,305,090 R13H possibly damaging Het
Npffr1 T G 10: 61,614,208 V87G probably damaging Het
Olfr186 G A 16: 59,027,829 P26L probably benign Het
Olfr813 A G 10: 129,856,628 I37V probably benign Het
Phldb2 A G 16: 45,825,060 L386P probably damaging Het
Ppp1r13b A G 12: 111,833,219 I708T probably benign Het
Ramp2 T A 11: 101,247,627 Y85N probably benign Het
Rnf217 A G 10: 31,608,503 Y228H probably damaging Het
Rock1 T G 18: 10,080,502 D1014A probably benign Het
Scyl3 T A 1: 163,934,769 C101* probably null Het
Sema6b G T 17: 56,132,761 L27I possibly damaging Het
Slc10a5 A G 3: 10,335,309 V97A probably benign Het
Strc C A 2: 121,365,060 R1636L probably benign Het
Tm9sf1 T A 14: 55,642,767 T58S probably damaging Het
Tmem106c T C 15: 97,966,944 Y85H probably damaging Het
Uhrf1bp1l T C 10: 89,791,378 L435P probably benign Het
Vmn2r9 A G 5: 108,842,945 probably null Het
Vps13a A G 19: 16,651,417 probably null Het
Zfp976 A T 7: 42,613,909 L168* probably null Het
Other mutations in Coro1c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01138:Coro1c APN 5 113852161 splice site probably benign
IGL01474:Coro1c APN 5 113882155 splice site probably benign
IGL02075:Coro1c APN 5 113844393 missense probably damaging 1.00
IGL02106:Coro1c APN 5 113852273 missense probably benign 0.01
IGL02831:Coro1c APN 5 113844408 missense probably benign
R0254:Coro1c UTSW 5 113845252 missense probably benign 0.09
R0975:Coro1c UTSW 5 113882121 missense probably damaging 1.00
R1835:Coro1c UTSW 5 113848543 missense probably benign 0.10
R2944:Coro1c UTSW 5 113850800 missense probably damaging 1.00
R5210:Coro1c UTSW 5 113845306 missense probably damaging 1.00
R5354:Coro1c UTSW 5 113846165 missense possibly damaging 0.94
R5379:Coro1c UTSW 5 113845382 missense probably damaging 1.00
R5414:Coro1c UTSW 5 113848546 missense possibly damaging 0.55
R5869:Coro1c UTSW 5 113850846 intron probably benign
R5891:Coro1c UTSW 5 113850811 missense probably damaging 0.98
R7037:Coro1c UTSW 5 113845396 missense possibly damaging 0.60
R7116:Coro1c UTSW 5 113852206 nonsense probably null
R7536:Coro1c UTSW 5 113845289 missense probably damaging 1.00
X0018:Coro1c UTSW 5 113848594 missense probably benign 0.13
Z1088:Coro1c UTSW 5 113850649 critical splice donor site probably null
Posted On2013-06-21