Incidental Mutation 'IGL02805:Cgn'
ID 360367
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cgn
Ensembl Gene ENSMUSG00000068876
Gene Name cingulin
Synonyms 6330408J11Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock # IGL02805
Quality Score
Status
Chromosome 3
Chromosomal Location 94760069-94786492 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 94774377 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Leucine to Phenylalanine at position 469 (L469F)
Ref Sequence ENSEMBL: ENSMUSP00000102894 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000107272] [ENSMUST00000107273] [ENSMUST00000153263] [ENSMUST00000155485]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000107272
AA Change: L461F

PolyPhen 2 Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000102893
Gene: ENSMUSG00000068876
AA Change: L461F

DomainStartEndE-ValueType
low complexity region 31 43 N/A INTRINSIC
low complexity region 189 198 N/A INTRINSIC
internal_repeat_1 214 229 8.06e-5 PROSPERO
low complexity region 242 260 N/A INTRINSIC
internal_repeat_1 287 302 8.06e-5 PROSPERO
low complexity region 446 462 N/A INTRINSIC
low complexity region 466 481 N/A INTRINSIC
low complexity region 536 549 N/A INTRINSIC
low complexity region 567 592 N/A INTRINSIC
low complexity region 660 676 N/A INTRINSIC
low complexity region 758 775 N/A INTRINSIC
Pfam:Myosin_tail_1 783 1140 3.4e-31 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000107273
AA Change: L469F

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000102894
Gene: ENSMUSG00000068876
AA Change: L469F

DomainStartEndE-ValueType
low complexity region 31 43 N/A INTRINSIC
low complexity region 189 198 N/A INTRINSIC
internal_repeat_1 214 229 8.83e-5 PROSPERO
low complexity region 242 260 N/A INTRINSIC
internal_repeat_1 287 302 8.83e-5 PROSPERO
low complexity region 454 470 N/A INTRINSIC
low complexity region 474 489 N/A INTRINSIC
low complexity region 544 557 N/A INTRINSIC
low complexity region 575 600 N/A INTRINSIC
low complexity region 668 684 N/A INTRINSIC
low complexity region 766 783 N/A INTRINSIC
Pfam:Myosin_tail_1 799 1144 2.2e-37 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000153263
SMART Domains Protein: ENSMUSP00000143156
Gene: ENSMUSG00000068876

DomainStartEndE-ValueType
low complexity region 31 43 N/A INTRINSIC
low complexity region 189 198 N/A INTRINSIC
low complexity region 242 260 N/A INTRINSIC
coiled coil region 337 402 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000155485
SMART Domains Protein: ENSMUSP00000142809
Gene: ENSMUSG00000068876

DomainStartEndE-ValueType
low complexity region 31 43 N/A INTRINSIC
low complexity region 189 198 N/A INTRINSIC
low complexity region 242 260 N/A INTRINSIC
low complexity region 340 357 N/A INTRINSIC
coiled coil region 381 447 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased sensitivity to the ulcerogenic action of cysteamine. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaca T C 11: 84,223,133 probably benign Het
Ankdd1b A G 13: 96,444,302 S163P probably benign Het
Ap5z1 G A 5: 142,470,283 probably benign Het
Asb14 A G 14: 26,901,187 N172S possibly damaging Het
Avil G A 10: 127,007,617 V139I possibly damaging Het
C130073F10Rik A T 4: 101,890,974 M1K probably null Het
Ccdc189 T C 7: 127,586,394 D121G possibly damaging Het
Ccdc33 T A 9: 58,098,591 I37F probably benign Het
Ccdc9 T C 7: 16,275,274 M550V probably benign Het
Dnaaf3 C T 7: 4,523,705 G458R possibly damaging Het
Dscaml1 T A 9: 45,447,897 N151K probably damaging Het
Dsel A G 1: 111,862,316 V163A probably damaging Het
Dusp27 T C 1: 166,099,061 E994G probably damaging Het
Epg5 A G 18: 78,030,191 probably benign Het
Fanca A T 8: 123,289,494 I670N probably damaging Het
Fsip2 T C 2: 82,993,495 V6524A probably benign Het
Gm10985 T C 3: 53,845,093 probably null Het
Gm1818 C T 12: 48,555,735 noncoding transcript Het
Hars2 C T 18: 36,787,577 R158* probably null Het
Htr5b A G 1: 121,527,888 V101A probably damaging Het
Ipp A G 4: 116,529,688 I356V possibly damaging Het
Itga8 T A 2: 12,189,480 N703I possibly damaging Het
Olfr147 T A 9: 38,403,836 probably benign Het
Ppp6r3 T C 19: 3,492,428 N406D probably benign Het
Rbbp6 G A 7: 123,001,188 probably benign Het
Rgs7 T C 1: 175,149,696 Y114C probably damaging Het
Ripor1 A G 8: 105,617,571 T446A probably damaging Het
Rnf213 A G 11: 119,435,066 D1562G probably damaging Het
Scaf11 A T 15: 96,420,182 D500E possibly damaging Het
Spock1 A G 13: 57,907,577 I4T possibly damaging Het
Srebf2 C A 15: 82,169,844 N35K probably benign Het
Srgap3 G T 6: 112,727,263 H922N probably damaging Het
Stk32c A C 7: 139,121,846 H112Q probably damaging Het
Thumpd3 A G 6: 113,066,797 D391G probably damaging Het
Vmn2r38 T A 7: 9,075,547 H612L probably damaging Het
Vsig10l T G 7: 43,465,242 I289S probably damaging Het
Wwox G A 8: 114,712,013 G273E probably damaging Het
Zscan4d T G 7: 11,164,970 probably benign Het
Other mutations in Cgn
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00228:Cgn APN 3 94765548 missense probably benign 0.00
IGL00823:Cgn APN 3 94767209 missense probably damaging 1.00
IGL01349:Cgn APN 3 94767176 nonsense probably null
IGL01433:Cgn APN 3 94779459 missense probably damaging 0.99
IGL01467:Cgn APN 3 94779588 missense probably damaging 1.00
IGL01781:Cgn APN 3 94773205 missense probably benign
IGL01789:Cgn APN 3 94776218 missense possibly damaging 0.63
IGL01879:Cgn APN 3 94774364 nonsense probably null
IGL02814:Cgn APN 3 94774240 missense probably benign 0.00
IGL02926:Cgn APN 3 94778016 missense probably benign 0.01
IGL03113:Cgn APN 3 94779234 missense probably benign
IGL03340:Cgn APN 3 94778095 intron probably benign
R0054:Cgn UTSW 3 94762592 missense possibly damaging 0.95
R0310:Cgn UTSW 3 94765653 missense possibly damaging 0.88
R0355:Cgn UTSW 3 94774932 missense probably benign
R0615:Cgn UTSW 3 94770714 unclassified probably benign
R0656:Cgn UTSW 3 94774894 unclassified probably benign
R1491:Cgn UTSW 3 94763228 missense probably damaging 1.00
R1509:Cgn UTSW 3 94774258 missense probably benign 0.00
R1794:Cgn UTSW 3 94762557 critical splice donor site probably null
R2113:Cgn UTSW 3 94779806 missense probably damaging 1.00
R3121:Cgn UTSW 3 94778482 splice site probably benign
R4655:Cgn UTSW 3 94779249 nonsense probably null
R4703:Cgn UTSW 3 94776095 utr 3 prime probably benign
R4714:Cgn UTSW 3 94779438 missense probably damaging 1.00
R4715:Cgn UTSW 3 94779438 missense probably damaging 1.00
R4959:Cgn UTSW 3 94778254 missense probably benign 0.06
R4973:Cgn UTSW 3 94778254 missense probably benign 0.06
R4995:Cgn UTSW 3 94779936 missense probably damaging 1.00
R5011:Cgn UTSW 3 94776145 missense probably null 1.00
R5329:Cgn UTSW 3 94779990 start codon destroyed probably null 0.02
R5524:Cgn UTSW 3 94779989 start codon destroyed probably null 0.56
R5695:Cgn UTSW 3 94773635 missense probably benign 0.00
R5839:Cgn UTSW 3 94774393 missense probably damaging 0.99
R5987:Cgn UTSW 3 94779522 missense probably benign 0.00
R6146:Cgn UTSW 3 94767125 missense possibly damaging 0.94
R6311:Cgn UTSW 3 94778176 intron probably benign
R6948:Cgn UTSW 3 94773221 missense probably benign 0.06
R7038:Cgn UTSW 3 94763085 missense possibly damaging 0.80
R7231:Cgn UTSW 3 94773192 missense probably damaging 0.99
R7251:Cgn UTSW 3 94776199 missense possibly damaging 0.82
R7408:Cgn UTSW 3 94763055 nonsense probably null
R7828:Cgn UTSW 3 94769179 missense probably damaging 0.97
R7882:Cgn UTSW 3 94762634 missense probably damaging 1.00
R7975:Cgn UTSW 3 94764529 missense probably benign 0.03
R8082:Cgn UTSW 3 94763061 missense probably benign 0.21
R8090:Cgn UTSW 3 94779953 missense probably damaging 1.00
R8128:Cgn UTSW 3 94769381 missense probably benign 0.06
R8275:Cgn UTSW 3 94774953 missense possibly damaging 0.52
R8774:Cgn UTSW 3 94773500 missense probably damaging 1.00
R8774-TAIL:Cgn UTSW 3 94773500 missense probably damaging 1.00
R9036:Cgn UTSW 3 94767241 missense possibly damaging 0.90
R9060:Cgn UTSW 3 94779855 missense probably damaging 1.00
R9434:Cgn UTSW 3 94765530 missense probably damaging 0.99
R9616:Cgn UTSW 3 94763025 missense probably damaging 0.97
R9720:Cgn UTSW 3 94779311 missense probably benign 0.10
Z1176:Cgn UTSW 3 94774273 missense possibly damaging 0.81
Z1176:Cgn UTSW 3 94774346 missense probably damaging 1.00
Z1176:Cgn UTSW 3 94776178 missense probably benign 0.16
Posted On 2015-12-18