Incidental Mutation 'IGL02814:Cgn'
ID360702
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cgn
Ensembl Gene ENSMUSG00000068876
Gene Namecingulin
Synonyms6330408J11Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02814
Quality Score
Status
Chromosome3
Chromosomal Location94760069-94786492 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 94774240 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Methionine at position 515 (T515M)
Ref Sequence ENSEMBL: ENSMUSP00000102894 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000107272] [ENSMUST00000107273] [ENSMUST00000153263] [ENSMUST00000155485]
Predicted Effect probably benign
Transcript: ENSMUST00000107272
AA Change: T507M

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000102893
Gene: ENSMUSG00000068876
AA Change: T507M

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 benign
Transcript: ENSMUST00000107273
AA Change: T515M

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000102894
Gene: ENSMUSG00000068876
AA Change: T515M

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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700081O15Rik C A 19: 7,420,422 N111K possibly damaging Het
Abca9 A T 11: 110,154,467 F347I possibly damaging Het
Adcy5 A G 16: 35,303,649 T1233A probably benign Het
Blnk C T 19: 40,962,429 D93N probably damaging Het
Cadps2 T C 6: 23,321,707 E1083G probably damaging Het
Capn8 C A 1: 182,598,771 L224M probably damaging Het
Cdh4 A T 2: 179,780,474 E130D probably benign Het
Chrna10 C T 7: 102,112,262 G374D probably benign Het
Chrnb1 T A 11: 69,795,680 Y38F probably damaging Het
Cyld A G 8: 88,744,897 D621G probably benign Het
Cyp4f37 T C 17: 32,634,671 F443S probably benign Het
Dctn1 C A 6: 83,189,914 A152E probably damaging Het
Eml4 T A 17: 83,441,362 Y228* probably null Het
Fbln2 T A 6: 91,265,857 C846* probably null Het
Fut2 C T 7: 45,650,769 G193E possibly damaging Het
Gart T C 16: 91,623,457 S833G possibly damaging Het
Gda T C 19: 21,428,475 probably null Het
Gjb5 C T 4: 127,355,562 R263Q probably benign Het
Gtf2i T C 5: 134,286,704 K193E probably damaging Het
Hist2h4 C A 3: 96,263,287 K6N probably benign Het
Ints1 C T 5: 139,772,391 E244K possibly damaging Het
Kat14 G A 2: 144,402,463 S412N probably benign Het
Kcnn3 A T 3: 89,521,175 H236L possibly damaging Het
Kif15 T A 9: 123,003,640 I1005K possibly damaging Het
Klrc1 T C 6: 129,678,892 T7A possibly damaging Het
Lcp2 T C 11: 34,071,033 S130P probably damaging Het
Ldha T A 7: 46,850,891 Y133* probably null Het
Lrp2 A G 2: 69,506,736 C1231R probably damaging Het
Lrrn1 T A 6: 107,567,352 V37D probably damaging Het
Mep1a T A 17: 43,477,221 H648L probably benign Het
Mmp25 C T 17: 23,639,762 G272R probably damaging Het
Myh15 A G 16: 49,145,438 probably benign Het
Myl3 G T 9: 110,767,991 E140* probably null Het
Nlrp4f A G 13: 65,185,042 S809P probably damaging Het
Nrde2 T C 12: 100,144,135 I207M probably null Het
Olfr1373 C T 11: 52,144,810 C240Y probably damaging Het
Olfr474 T C 7: 107,954,770 I43T probably benign Het
Olfr541 T C 7: 140,705,133 L294P probably damaging Het
Paics T G 5: 76,962,473 V245G probably damaging Het
Pank1 A G 19: 34,840,855 F95L probably damaging Het
Pde4dip A C 3: 97,767,100 C167G probably damaging Het
Picalm C A 7: 90,191,749 T542K possibly damaging Het
Piezo1 A G 8: 122,498,215 Y651H probably damaging Het
Pikfyve T A 1: 65,250,194 C1208* probably null Het
Pkd1l1 T A 11: 8,902,582 T634S probably benign Het
Rab32 T C 10: 10,546,427 T183A probably benign Het
Rad18 T C 6: 112,644,622 I206V possibly damaging Het
Rbm15b T C 9: 106,885,776 I398V probably benign Het
Rbm28 T C 6: 29,159,726 E101G probably benign Het
Rsf1 T C 7: 97,661,227 L388P probably damaging Het
Scnn1g A G 7: 121,740,365 Y129C probably damaging Het
Slc7a13 G A 4: 19,839,387 C330Y probably benign Het
Spock1 A T 13: 57,587,673 V101E probably damaging Het
Sympk T A 7: 19,053,273 W1029R probably damaging Het
Syne2 T A 12: 75,945,376 H2008Q possibly damaging Het
Tgs1 T A 4: 3,585,719 Y199N probably damaging Het
Trim10 T A 17: 36,877,336 C481* probably null Het
Vmn2r102 A G 17: 19,677,908 E395G probably damaging Het
Wfs1 A C 5: 36,967,669 V626G possibly damaging Het
Zfp689 A G 7: 127,445,021 S146P possibly damaging Het
Zfp786 T C 6: 47,819,841 H721R probably damaging 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
IGL02805:Cgn APN 3 94774377 missense probably damaging 0.96
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
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 On2015-12-18