Incidental Mutation 'IGL01138:Coro1c'
ID 51179
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Coro1c
Ensembl Gene ENSMUSG00000004530
Gene Name coronin, actin binding protein 1C
Synonyms coronin 3, CRN2
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01138
Quality Score
Status
Chromosome 5
Chromosomal Location 113980500-114046767 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) G to A at 113990222 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000129314 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004646] [ENSMUST00000164980]
AlphaFold Q9WUM4
Predicted Effect probably benign
Transcript: ENSMUST00000004646
SMART Domains Protein: ENSMUSP00000004646
Gene: ENSMUSG00000004530

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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930486L24Rik A G 13: 61,002,673 (GRCm39) V27A probably benign Het
Abcg5 T A 17: 84,972,275 (GRCm39) R499S possibly damaging Het
Adamts13 T C 2: 26,873,054 (GRCm39) S341P probably damaging Het
Adgrg1 T A 8: 95,730,085 (GRCm39) C96S probably damaging Het
Arhgap44 A G 11: 64,932,275 (GRCm39) F215S probably damaging Het
Arhgef25 A G 10: 127,020,039 (GRCm39) F400L probably damaging Het
Baz1a T C 12: 54,977,110 (GRCm39) E384G probably damaging Het
Col12a1 T C 9: 79,585,335 (GRCm39) D1314G probably damaging Het
Col6a3 T A 1: 90,735,232 (GRCm39) I806F probably damaging Het
Dnmt3b A T 2: 153,503,361 (GRCm39) D4V probably benign Het
Ermn G T 2: 57,942,707 (GRCm39) L8M possibly damaging Het
F13b T A 1: 139,444,950 (GRCm39) N533K probably damaging Het
Fam171a1 T C 2: 3,203,657 (GRCm39) V93A possibly damaging Het
Gpr107 T A 2: 31,062,028 (GRCm39) L152Q probably benign Het
Guca1a C A 17: 47,711,309 (GRCm39) E12D probably damaging Het
Igtp A G 11: 58,096,970 (GRCm39) N47S possibly damaging Het
Lratd2 T A 15: 60,694,967 (GRCm39) I260F probably damaging Het
Lrrc8e A G 8: 4,284,084 (GRCm39) N103S probably damaging Het
Lsmem1 A G 12: 40,230,698 (GRCm39) L68P probably damaging Het
Maml3 A G 3: 51,597,979 (GRCm39) S902P possibly damaging Het
Mkln1 A T 6: 31,409,925 (GRCm39) N188Y probably damaging Het
Mlxip C T 5: 123,588,219 (GRCm39) R771W probably damaging Het
Myf6 T C 10: 107,330,259 (GRCm39) R103G probably damaging Het
Ncam2 T A 16: 81,314,467 (GRCm39) I481K probably damaging Het
Nrap T A 19: 56,343,970 (GRCm39) S645C probably damaging Het
Nup205 G T 6: 35,185,019 (GRCm39) E813* probably null Het
Or13c7c A G 4: 43,835,617 (GRCm39) L291P probably damaging Het
Plekhg5 C T 4: 152,191,435 (GRCm39) R410W probably damaging Het
Pnma8b C A 7: 16,679,088 (GRCm39) T24K unknown Het
Polq A T 16: 36,866,231 (GRCm39) Y476F possibly damaging Het
Prkd2 T C 7: 16,582,736 (GRCm39) S200P probably damaging Het
Rif1 C A 2: 52,001,534 (GRCm39) L1663I probably damaging Het
Serpina5 A G 12: 104,070,003 (GRCm39) Y300C possibly damaging Het
Shroom4 T C X: 6,497,257 (GRCm39) S806P probably damaging Het
Sirpa T C 2: 129,472,085 (GRCm39) V290A probably damaging Het
Slc25a47 C T 12: 108,821,948 (GRCm39) R246C probably damaging Het
Slc9a6 A G X: 55,668,791 (GRCm39) D199G probably damaging Het
Smarca5 T A 8: 81,427,705 (GRCm39) K1048M possibly damaging Het
Sos2 C T 12: 69,663,623 (GRCm39) probably benign Het
Trpm5 T A 7: 142,628,306 (GRCm39) M990L probably benign Het
Vmn2r99 A T 17: 19,602,885 (GRCm39) T547S probably damaging Het
Vps13b T C 15: 35,446,916 (GRCm39) probably benign Het
Zfp994 G A 17: 22,421,649 (GRCm39) probably benign Het
Other mutations in Coro1c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01102:Coro1c APN 5 113,987,675 (GRCm39) missense probably benign 0.07
IGL01474:Coro1c APN 5 114,020,216 (GRCm39) splice site probably benign
IGL02075:Coro1c APN 5 113,982,454 (GRCm39) missense probably damaging 1.00
IGL02106:Coro1c APN 5 113,990,334 (GRCm39) missense probably benign 0.01
IGL02831:Coro1c APN 5 113,982,469 (GRCm39) missense probably benign
R0254:Coro1c UTSW 5 113,983,313 (GRCm39) missense probably benign 0.09
R0975:Coro1c UTSW 5 114,020,182 (GRCm39) missense probably damaging 1.00
R1835:Coro1c UTSW 5 113,986,604 (GRCm39) missense probably benign 0.10
R2944:Coro1c UTSW 5 113,988,861 (GRCm39) missense probably damaging 1.00
R5210:Coro1c UTSW 5 113,983,367 (GRCm39) missense probably damaging 1.00
R5354:Coro1c UTSW 5 113,984,226 (GRCm39) missense possibly damaging 0.94
R5379:Coro1c UTSW 5 113,983,443 (GRCm39) missense probably damaging 1.00
R5414:Coro1c UTSW 5 113,986,607 (GRCm39) missense possibly damaging 0.55
R5869:Coro1c UTSW 5 113,988,907 (GRCm39) intron probably benign
R5891:Coro1c UTSW 5 113,988,872 (GRCm39) missense probably damaging 0.98
R7037:Coro1c UTSW 5 113,983,457 (GRCm39) missense possibly damaging 0.60
R7116:Coro1c UTSW 5 113,990,267 (GRCm39) nonsense probably null
R7536:Coro1c UTSW 5 113,983,350 (GRCm39) missense probably damaging 1.00
R7855:Coro1c UTSW 5 113,986,658 (GRCm39) missense probably benign 0.21
R8043:Coro1c UTSW 5 114,003,820 (GRCm39) splice site silent
R8078:Coro1c UTSW 5 114,020,164 (GRCm39) missense probably damaging 0.98
R8175:Coro1c UTSW 5 113,988,876 (GRCm39) missense probably benign 0.04
R8267:Coro1c UTSW 5 113,985,636 (GRCm39) missense probably damaging 1.00
R8560:Coro1c UTSW 5 113,984,249 (GRCm39) missense probably damaging 1.00
R9012:Coro1c UTSW 5 113,988,737 (GRCm39) missense probably damaging 0.99
R9229:Coro1c UTSW 5 114,003,747 (GRCm39) missense probably damaging 1.00
R9355:Coro1c UTSW 5 114,003,726 (GRCm39) missense probably damaging 1.00
R9496:Coro1c UTSW 5 113,983,337 (GRCm39) missense probably benign 0.13
R9502:Coro1c UTSW 5 113,988,781 (GRCm39) missense probably damaging 0.99
R9570:Coro1c UTSW 5 114,003,816 (GRCm39) nonsense probably null
X0018:Coro1c UTSW 5 113,986,655 (GRCm39) missense probably benign 0.13
Z1088:Coro1c UTSW 5 113,988,710 (GRCm39) critical splice donor site probably null
Posted On 2013-06-21