Incidental Mutation 'IGL02831:Coro1c'
ID361426
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 #IGL02831
Quality Score
Status
Chromosome5
Chromosomal Location113842436-113908758 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 113844408 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Serine at position 456 (C456S)
Ref Sequence ENSEMBL: ENSMUSP00000004646 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004646] [ENSMUST00000164980]
Predicted Effect probably benign
Transcript: ENSMUST00000004646
AA Change: C456S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000004646
Gene: ENSMUSG00000004530
AA Change: C456S

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: ENSMUST00000166047
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a C T 11: 110,053,081 V1121M probably damaging Het
Acrbp C A 6: 125,061,249 T471N possibly damaging Het
Blnk C T 19: 40,962,429 D93N probably damaging Het
Casp7 A G 19: 56,404,423 D3G probably benign Het
Cd163l1 G T 7: 140,228,521 V782L probably benign Het
Dlec1 T G 9: 119,143,915 L1499R probably damaging Het
Dnah8 T C 17: 30,712,276 S1422P probably benign Het
Exd1 T C 2: 119,528,754 D216G probably damaging Het
Fhit T C 14: 9,870,080 T130A probably benign Het
Frem1 A T 4: 82,956,158 M1409K probably benign Het
Fut2 C T 7: 45,650,769 G193E possibly damaging Het
Glb1l2 A G 9: 26,767,450 V465A probably benign Het
Ints8 T C 4: 11,245,896 Q194R possibly damaging Het
Ip6k2 C T 9: 108,804,534 probably benign Het
Kctd2 T A 11: 115,430,340 *264K probably null Het
Krt34 C A 11: 100,040,147 probably benign Het
Lamc1 A G 1: 153,247,055 S760P probably benign Het
Lrp1b T C 2: 41,193,591 N1702S probably damaging Het
Lrrc8e T A 8: 4,235,429 S551R probably damaging Het
Map3k20 T C 2: 72,371,727 V139A probably damaging Het
Mkl1 A G 15: 81,104,793 L9P probably benign Het
Napsa A G 7: 44,586,760 T408A probably benign Het
Olfr1156 T C 2: 87,949,676 probably null Het
Olfr132 T C 17: 38,130,512 K227E probably benign Het
Olfr1361 T C 13: 21,658,904 I140V probably benign Het
Panx1 A G 9: 15,007,648 L305P probably damaging Het
Pkhd1l1 A G 15: 44,501,493 H676R probably benign Het
Pld1 T A 3: 28,076,425 V458E probably damaging Het
Ppp5c A G 7: 17,008,645 L256P probably damaging Het
Pyroxd2 G T 19: 42,735,903 T307K probably damaging Het
Sin3b A G 8: 72,744,562 E379G probably damaging Het
Slc22a23 T C 13: 34,299,069 T276A possibly damaging Het
Slc26a3 T C 12: 31,452,629 I283T probably damaging Het
Sltm A G 9: 70,584,865 D712G probably damaging Het
Slu7 C T 11: 43,442,653 Q367* probably null Het
Srbd1 T C 17: 86,003,871 N706S probably damaging Het
Supt16 A T 14: 52,170,878 M870K possibly damaging Het
Tnxb T C 17: 34,703,571 Y2453H possibly damaging Het
Tomm40 A G 7: 19,703,089 Y274H probably damaging Het
Utp20 A T 10: 88,815,908 D404E probably benign Het
Vmn2r23 T A 6: 123,704,385 M84K probably benign Het
Wdr70 A G 15: 7,884,306 Y621H possibly damaging Het
Wfdc8 C T 2: 164,605,765 probably null Het
Other mutations in Coro1c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01102:Coro1c APN 5 113849614 missense probably benign 0.07
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
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
R7855:Coro1c UTSW 5 113848597 missense probably benign 0.21
R8043:Coro1c UTSW 5 113865759 splice site silent
R8078:Coro1c UTSW 5 113882103 missense probably damaging 0.98
R8175:Coro1c UTSW 5 113850815 missense probably benign 0.04
R8267:Coro1c UTSW 5 113847575 missense probably damaging 1.00
R8560:Coro1c UTSW 5 113846188 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 On2015-12-18