Incidental Mutation 'R6146:Cgn'
ID 488867
Institutional Source Beutler Lab
Gene Symbol Cgn
Ensembl Gene ENSMUSG00000068876
Gene Name cingulin
Synonyms 6330408J11Rik
MMRRC Submission 044293-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6146 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 94667376-94693826 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 94674435 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Lysine at position 901 (Q901K)
Ref Sequence ENSEMBL: ENSMUSP00000102894 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000107272] [ENSMUST00000107273]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000107272
AA Change: Q893K

PolyPhen 2 Score 0.824 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000102893
Gene: ENSMUSG00000068876
AA Change: Q893K

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 possibly damaging
Transcript: ENSMUST00000107273
AA Change: Q901K

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000102894
Gene: ENSMUSG00000068876
AA Change: Q901K

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.8%
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb4 A G 5: 8,946,587 (GRCm39) E29G probably benign Het
Abi3bp T C 16: 56,491,628 (GRCm39) S552P probably damaging Het
Adgrg7 A G 16: 56,593,829 (GRCm39) I129T probably benign Het
Adhfe1 A G 1: 9,623,943 (GRCm39) N148S probably damaging Het
AI182371 A G 2: 34,987,983 (GRCm39) Y77H probably damaging Het
Aldh5a1 C T 13: 25,103,661 (GRCm39) probably null Het
Ankrd2 A G 19: 42,028,544 (GRCm39) T67A possibly damaging Het
Anln A T 9: 22,287,604 (GRCm39) C232* probably null Het
Cchcr1 A G 17: 35,839,475 (GRCm39) D587G possibly damaging Het
Cip2a A T 16: 48,814,692 (GRCm39) K18* probably null Het
Cluh G T 11: 74,558,054 (GRCm39) probably null Het
Crebbp G A 16: 3,902,487 (GRCm39) Q2213* probably null Het
Cyp2d22 T A 15: 82,258,036 (GRCm39) probably null Het
Dcdc2a T C 13: 25,389,440 (GRCm39) V456A probably benign Het
Depdc5 A G 5: 33,126,075 (GRCm39) E569G probably benign Het
Dnah5 T C 15: 28,459,331 (GRCm39) F4517L probably benign Het
Doc2b T C 11: 75,664,421 (GRCm39) K317E probably damaging Het
Dysf T A 6: 84,180,181 (GRCm39) D1951E probably damaging Het
Epha6 C A 16: 60,245,198 (GRCm39) A334S possibly damaging Het
F2rl2 A C 13: 95,837,149 (GRCm39) I65L probably benign Het
Fbxw17 A G 13: 50,586,548 (GRCm39) K417E probably benign Het
Fkbpl G A 17: 34,864,303 (GRCm39) A24T probably benign Het
Fxr2 A G 11: 69,532,165 (GRCm39) M96V possibly damaging Het
Kcnj10 C A 1: 172,196,892 (GRCm39) Y135* probably null Het
Kidins220 G A 12: 25,102,812 (GRCm39) R1238Q probably damaging Het
Krt31 T C 11: 99,939,056 (GRCm39) N255S probably benign Het
Lrp2 T C 2: 69,341,345 (GRCm39) D945G probably benign Het
Lrrc66 T C 5: 73,765,432 (GRCm39) D537G probably benign Het
Ltbp4 T A 7: 27,019,149 (GRCm39) I992F probably damaging Het
Lzts1 A G 8: 69,593,524 (GRCm39) S28P probably benign Het
Mrc2 C A 11: 105,216,470 (GRCm39) N86K probably damaging Het
Mroh6 C A 15: 75,758,486 (GRCm39) A302S possibly damaging Het
Muc16 T A 9: 18,409,093 (GRCm39) N198Y probably damaging Het
Myo9a T C 9: 59,778,512 (GRCm39) S1423P probably benign Het
Or10ag58 A T 2: 87,265,662 (GRCm39) D277V possibly damaging Het
Or2b28 A T 13: 21,531,164 (GRCm39) Y22F possibly damaging Het
Or5h22 A G 16: 58,895,077 (GRCm39) V122A probably benign Het
Or5p56 G T 7: 107,589,620 (GRCm39) G16V probably damaging Het
Or5w17 A C 2: 87,583,602 (GRCm39) L245R probably damaging Het
Or9g4 T A 2: 85,504,938 (GRCm39) K186* probably null Het
Otogl G A 10: 107,612,978 (GRCm39) silent Het
Polg T C 7: 79,100,260 (GRCm39) M1184V probably benign Het
Prl8a8 T C 13: 27,694,463 (GRCm39) Y108C probably damaging Het
Proser1 T A 3: 53,385,540 (GRCm39) I474N probably damaging Het
Rab44 A G 17: 29,354,391 (GRCm39) probably benign Het
Rbp1 C A 9: 98,307,669 (GRCm39) D79E possibly damaging Het
Rnf213 T C 11: 119,326,825 (GRCm39) V1605A probably benign Het
Rps24 A T 14: 24,540,803 (GRCm39) probably null Het
Setd5 T C 6: 113,098,773 (GRCm39) probably null Het
Skic3 A G 13: 76,333,359 (GRCm39) E1536G probably damaging Het
Slc38a3 T C 9: 107,532,228 (GRCm39) I435V probably benign Het
Slco1a5 T A 6: 142,180,534 (GRCm39) M623L probably benign Het
Spaca9 G A 2: 28,583,793 (GRCm39) R64W probably damaging Het
Spn A G 7: 126,735,479 (GRCm39) S343P possibly damaging Het
Sptan1 A G 2: 29,894,535 (GRCm39) T1168A probably benign Het
Sptbn4 A T 7: 27,064,012 (GRCm39) L2138* probably null Het
Tg T A 15: 66,545,216 (GRCm39) probably null Het
Tigd5 T A 15: 75,782,094 (GRCm39) L152Q probably damaging Het
Tmem163 C T 1: 127,447,126 (GRCm39) V170I probably benign Het
Tpr T C 1: 150,298,913 (GRCm39) C1068R possibly damaging Het
Ubr1 A T 2: 120,723,690 (GRCm39) Y1290N probably damaging Het
Vmn1r184 T A 7: 25,966,817 (GRCm39) F188I probably benign Het
Vmn2r100 G A 17: 19,742,522 (GRCm39) V299I probably benign Het
Vmn2r91 T G 17: 18,356,518 (GRCm39) H728Q probably benign Het
Vta1 T C 10: 14,581,096 (GRCm39) Y37C probably damaging Het
Wbp2 C A 11: 115,974,728 (GRCm39) M35I probably benign Het
Zcchc9 G A 13: 91,953,986 (GRCm39) Q90* probably null Het
Other mutations in Cgn
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00228:Cgn APN 3 94,672,855 (GRCm39) missense probably benign 0.00
IGL00823:Cgn APN 3 94,674,519 (GRCm39) missense probably damaging 1.00
IGL01349:Cgn APN 3 94,674,486 (GRCm39) nonsense probably null
IGL01433:Cgn APN 3 94,686,769 (GRCm39) missense probably damaging 0.99
IGL01467:Cgn APN 3 94,686,898 (GRCm39) missense probably damaging 1.00
IGL01781:Cgn APN 3 94,680,515 (GRCm39) missense probably benign
IGL01789:Cgn APN 3 94,683,528 (GRCm39) missense possibly damaging 0.63
IGL01879:Cgn APN 3 94,681,674 (GRCm39) nonsense probably null
IGL02805:Cgn APN 3 94,681,687 (GRCm39) missense probably damaging 0.96
IGL02814:Cgn APN 3 94,681,550 (GRCm39) missense probably benign 0.00
IGL02926:Cgn APN 3 94,685,326 (GRCm39) missense probably benign 0.01
IGL03113:Cgn APN 3 94,686,544 (GRCm39) missense probably benign
IGL03340:Cgn APN 3 94,685,405 (GRCm39) intron probably benign
R0054:Cgn UTSW 3 94,669,899 (GRCm39) missense possibly damaging 0.95
R0310:Cgn UTSW 3 94,672,960 (GRCm39) missense possibly damaging 0.88
R0355:Cgn UTSW 3 94,682,242 (GRCm39) missense probably benign
R0615:Cgn UTSW 3 94,678,024 (GRCm39) unclassified probably benign
R0656:Cgn UTSW 3 94,682,204 (GRCm39) unclassified probably benign
R1491:Cgn UTSW 3 94,670,535 (GRCm39) missense probably damaging 1.00
R1509:Cgn UTSW 3 94,681,568 (GRCm39) missense probably benign 0.00
R1794:Cgn UTSW 3 94,669,864 (GRCm39) critical splice donor site probably null
R2113:Cgn UTSW 3 94,687,116 (GRCm39) missense probably damaging 1.00
R3121:Cgn UTSW 3 94,685,792 (GRCm39) splice site probably benign
R4655:Cgn UTSW 3 94,686,559 (GRCm39) nonsense probably null
R4703:Cgn UTSW 3 94,683,405 (GRCm39) utr 3 prime probably benign
R4714:Cgn UTSW 3 94,686,748 (GRCm39) missense probably damaging 1.00
R4715:Cgn UTSW 3 94,686,748 (GRCm39) missense probably damaging 1.00
R4959:Cgn UTSW 3 94,685,564 (GRCm39) missense probably benign 0.06
R4973:Cgn UTSW 3 94,685,564 (GRCm39) missense probably benign 0.06
R4995:Cgn UTSW 3 94,687,246 (GRCm39) missense probably damaging 1.00
R5011:Cgn UTSW 3 94,683,455 (GRCm39) missense probably null 1.00
R5329:Cgn UTSW 3 94,687,300 (GRCm39) start codon destroyed probably null 0.02
R5524:Cgn UTSW 3 94,687,299 (GRCm39) start codon destroyed probably null 0.56
R5695:Cgn UTSW 3 94,680,945 (GRCm39) missense probably benign 0.00
R5839:Cgn UTSW 3 94,681,703 (GRCm39) missense probably damaging 0.99
R5987:Cgn UTSW 3 94,686,832 (GRCm39) missense probably benign 0.00
R6311:Cgn UTSW 3 94,685,486 (GRCm39) intron probably benign
R6948:Cgn UTSW 3 94,680,531 (GRCm39) missense probably benign 0.06
R7038:Cgn UTSW 3 94,670,392 (GRCm39) missense possibly damaging 0.80
R7231:Cgn UTSW 3 94,680,502 (GRCm39) missense probably damaging 0.99
R7251:Cgn UTSW 3 94,683,509 (GRCm39) missense possibly damaging 0.82
R7408:Cgn UTSW 3 94,670,362 (GRCm39) nonsense probably null
R7828:Cgn UTSW 3 94,676,489 (GRCm39) missense probably damaging 0.97
R7882:Cgn UTSW 3 94,669,941 (GRCm39) missense probably damaging 1.00
R7975:Cgn UTSW 3 94,671,836 (GRCm39) missense probably benign 0.03
R8082:Cgn UTSW 3 94,670,368 (GRCm39) missense probably benign 0.21
R8090:Cgn UTSW 3 94,687,263 (GRCm39) missense probably damaging 1.00
R8128:Cgn UTSW 3 94,676,691 (GRCm39) missense probably benign 0.06
R8275:Cgn UTSW 3 94,682,263 (GRCm39) missense possibly damaging 0.52
R8774:Cgn UTSW 3 94,680,810 (GRCm39) missense probably damaging 1.00
R8774-TAIL:Cgn UTSW 3 94,680,810 (GRCm39) missense probably damaging 1.00
R9036:Cgn UTSW 3 94,674,551 (GRCm39) missense possibly damaging 0.90
R9060:Cgn UTSW 3 94,687,165 (GRCm39) missense probably damaging 1.00
R9434:Cgn UTSW 3 94,672,837 (GRCm39) missense probably damaging 0.99
R9616:Cgn UTSW 3 94,670,332 (GRCm39) missense probably damaging 0.97
R9720:Cgn UTSW 3 94,686,621 (GRCm39) missense probably benign 0.10
Z1176:Cgn UTSW 3 94,683,488 (GRCm39) missense probably benign 0.16
Z1176:Cgn UTSW 3 94,681,656 (GRCm39) missense probably damaging 1.00
Z1176:Cgn UTSW 3 94,681,583 (GRCm39) missense possibly damaging 0.81
Predicted Primers PCR Primer
(F):5'- TGCTCTAGAGAGGGATGCTG -3'
(R):5'- GACAGAAACCTTTTCCCTCTGC -3'

Sequencing Primer
(F):5'- CTCTAGAGAGGGATGCTGCTC -3'
(R):5'- CCCTCTGCGTTTTAGCTGGAG -3'
Posted On 2017-10-10