Incidental Mutation 'IGL01086:Coro6'
ID52256
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Coro6
Ensembl Gene ENSMUSG00000020836
Gene Namecoronin 6
Synonymsclipin E
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01086
Quality Score
Status
Chromosome11
Chromosomal Location77462411-77470484 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) C to A at 77466548 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Stop codon at position 194 (C194*)
Ref Sequence ENSEMBL: ENSMUSP00000104028 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021190] [ENSMUST00000037593] [ENSMUST00000052515] [ENSMUST00000079770] [ENSMUST00000092892] [ENSMUST00000102493] [ENSMUST00000108391] [ENSMUST00000130255] [ENSMUST00000145934]
Predicted Effect probably null
Transcript: ENSMUST00000021190
AA Change: C194*
SMART Domains Protein: ENSMUSP00000021190
Gene: ENSMUSG00000020836
AA Change: C194*

DomainStartEndE-ValueType
DUF1899 4 68 7.45e-34 SMART
WD40 67 110 2.1e-7 SMART
WD40 120 160 2.07e-6 SMART
WD40 163 203 2.73e-6 SMART
DUF1900 257 391 1.19e-91 SMART
low complexity region 414 429 N/A INTRINSIC
coiled coil region 430 463 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000037593
SMART Domains Protein: ENSMUSP00000073584
Gene: ENSMUSG00000037907

DomainStartEndE-ValueType
ANK 13 43 3.16e2 SMART
ANK 47 76 2.85e-5 SMART
ANK 80 109 1.17e2 SMART
Pfam:GPCR_chapero_1 163 491 5.5e-111 PFAM
UIM 503 522 1.81e-1 SMART
low complexity region 552 580 N/A INTRINSIC
UIM 585 604 3.15e-1 SMART
Predicted Effect probably null
Transcript: ENSMUST00000052515
AA Change: C194*
SMART Domains Protein: ENSMUSP00000056862
Gene: ENSMUSG00000020836
AA Change: C194*

DomainStartEndE-ValueType
DUF1899 4 68 7.45e-34 SMART
WD40 67 110 2.1e-7 SMART
WD40 120 160 2.07e-6 SMART
WD40 163 203 2.73e-6 SMART
DUF1900 217 351 1.19e-91 SMART
low complexity region 374 389 N/A INTRINSIC
coiled coil region 390 424 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000079770
AA Change: C194*
SMART Domains Protein: ENSMUSP00000078703
Gene: ENSMUSG00000020836
AA Change: C194*

DomainStartEndE-ValueType
DUF1899 4 68 7.45e-34 SMART
WD40 67 110 2.1e-7 SMART
WD40 120 160 2.07e-6 SMART
WD40 163 203 2.73e-6 SMART
DUF1900 217 351 1.19e-91 SMART
low complexity region 374 389 N/A INTRINSIC
coiled coil region 390 423 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000092892
SMART Domains Protein: ENSMUSP00000090568
Gene: ENSMUSG00000037907

DomainStartEndE-ValueType
ANK 13 43 3.16e2 SMART
ANK 47 76 2.85e-5 SMART
ANK 80 109 1.17e2 SMART
Pfam:GPCR_chapero_1 163 490 3.2e-110 PFAM
UIM 503 522 1.81e-1 SMART
low complexity region 673 686 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000102493
AA Change: C194*
SMART Domains Protein: ENSMUSP00000099551
Gene: ENSMUSG00000020836
AA Change: C194*

DomainStartEndE-ValueType
DUF1899 4 68 7.45e-34 SMART
WD40 67 110 2.1e-7 SMART
WD40 120 160 2.07e-6 SMART
WD40 163 203 2.73e-6 SMART
DUF1900 257 391 1.19e-91 SMART
low complexity region 414 429 N/A INTRINSIC
coiled coil region 430 463 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000108391
AA Change: C194*
SMART Domains Protein: ENSMUSP00000104028
Gene: ENSMUSG00000020836
AA Change: C194*

DomainStartEndE-ValueType
DUF1899 4 68 7.45e-34 SMART
WD40 67 110 2.1e-7 SMART
WD40 120 160 2.07e-6 SMART
WD40 163 203 2.73e-6 SMART
DUF1900 257 391 1.19e-91 SMART
low complexity region 414 429 N/A INTRINSIC
coiled coil region 430 463 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000130255
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143872
Predicted Effect probably benign
Transcript: ENSMUST00000145934
SMART Domains Protein: ENSMUSP00000119633
Gene: ENSMUSG00000037907

DomainStartEndE-ValueType
Pfam:GPCR_chapero_1 2 276 9.7e-90 PFAM
UIM 288 307 1.81e-1 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700016H13Rik T A 5: 103,648,863 R104S probably damaging Het
Aen G A 7: 78,907,302 M299I probably damaging Het
Aim2 A G 1: 173,455,433 Y27C probably damaging Het
Apol7b T C 15: 77,423,914 E127G probably damaging Het
Atp10a T C 7: 58,824,318 F1118L probably damaging Het
Cacna1e T C 1: 154,471,601 D940G probably benign Het
Cfap206 C T 4: 34,721,562 S162N probably damaging Het
Clip4 G A 17: 71,824,794 V376I probably benign Het
Crebbp T C 16: 4,179,552 M223V probably benign Het
Dkk4 T A 8: 22,626,841 C157S probably damaging Het
Dnah14 T C 1: 181,752,046 L3048S probably benign Het
Dscaml1 T C 9: 45,702,662 probably benign Het
Gpr1 T C 1: 63,183,491 E195G probably benign Het
Gria2 T C 3: 80,692,381 Y732C probably damaging Het
Igkv4-59 T C 6: 69,438,723 I7V probably benign Het
Lamc3 T C 2: 31,898,476 F216S probably damaging Het
Lcn6 T C 2: 25,680,780 F61L probably benign Het
Nup205 T A 6: 35,208,936 probably benign Het
Olfr1143 T A 2: 87,803,200 Y266* probably null Het
Otof C T 5: 30,376,273 probably null Het
Pik3c2b T C 1: 133,091,618 C1035R probably damaging Het
Pla1a T C 16: 38,407,622 N298D probably benign Het
Poteg T A 8: 27,473,620 probably benign Het
Pwp1 T C 10: 85,879,893 probably null Het
Scel A G 14: 103,612,391 I631V probably benign Het
Scn3a T A 2: 65,470,159 M1288L probably benign Het
Serpina11 T A 12: 103,986,070 D147V probably damaging Het
Shroom3 T A 5: 92,948,452 C1266S probably benign Het
Slc12a7 A G 13: 73,814,843 Y1054C probably damaging Het
Srms A G 2: 181,212,423 V117A probably damaging Het
Tmem161b T C 13: 84,222,422 probably benign Het
Tmem94 A T 11: 115,790,284 T158S probably benign Het
Tomm40l T C 1: 171,220,309 probably null Het
Traf6 A G 2: 101,684,783 I95V probably benign Het
Ttc13 A G 8: 124,675,346 I686T probably damaging Het
Zmat2 C T 18: 36,796,110 H104Y probably damaging Het
Other mutations in Coro6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00952:Coro6 APN 11 77468465 missense probably damaging 1.00
IGL03184:Coro6 APN 11 77463953 missense probably damaging 1.00
R0365:Coro6 UTSW 11 77464090 missense probably benign 0.28
R1712:Coro6 UTSW 11 77469467 missense probably benign 0.19
R1738:Coro6 UTSW 11 77469425 missense probably benign 0.02
R2900:Coro6 UTSW 11 77467813 missense probably benign
R3081:Coro6 UTSW 11 77468912 missense probably damaging 1.00
R3700:Coro6 UTSW 11 77467303 missense probably damaging 1.00
R4503:Coro6 UTSW 11 77469446 missense probably benign 0.31
R4740:Coro6 UTSW 11 77469199 missense possibly damaging 0.59
R4749:Coro6 UTSW 11 77469148 missense probably damaging 1.00
R5501:Coro6 UTSW 11 77467796 missense probably damaging 1.00
R5996:Coro6 UTSW 11 77466496 missense probably benign 0.02
R6590:Coro6 UTSW 11 77465780 missense probably benign 0.31
R6619:Coro6 UTSW 11 77466204 missense possibly damaging 0.85
R6690:Coro6 UTSW 11 77465780 missense probably benign 0.31
R7052:Coro6 UTSW 11 77466230 missense probably benign 0.16
R7207:Coro6 UTSW 11 77467263 missense possibly damaging 0.46
R7775:Coro6 UTSW 11 77465773 missense probably benign 0.00
X0064:Coro6 UTSW 11 77468608 critical splice donor site probably null
Z1176:Coro6 UTSW 11 77467865 frame shift probably null
Z1177:Coro6 UTSW 11 77469109 missense probably damaging 1.00
Posted On2013-06-21