Incidental Mutation 'IGL02926:Cgn'
ID 363856
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cgn
Ensembl Gene ENSMUSG00000068876
Gene Name cingulin
Synonyms 6330408J11Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02926
Quality Score
Status
Chromosome 3
Chromosomal Location 94667376-94693826 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 94685326 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Arginine at position 399 (K399R)
Ref Sequence ENSEMBL: ENSMUSP00000142809 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000107272] [ENSMUST00000107273] [ENSMUST00000153263] [ENSMUST00000155485]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000107272
AA Change: K354R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000102893
Gene: ENSMUSG00000068876
AA Change: K354R

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: K362R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000102894
Gene: ENSMUSG00000068876
AA Change: K362R

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
AA Change: K354R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000143156
Gene: ENSMUSG00000068876
AA Change: K354R

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
AA Change: K399R

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000142809
Gene: ENSMUSG00000068876
AA Change: K399R

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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alms1 A T 6: 85,618,432 (GRCm39) D2826V probably damaging Het
Alpl C T 4: 137,469,945 (GRCm39) A460T probably damaging Het
C2cd5 A G 6: 142,976,963 (GRCm39) probably benign Het
C4b C T 17: 34,949,686 (GRCm39) R1468Q possibly damaging Het
Calu A G 6: 29,366,919 (GRCm39) T44A possibly damaging Het
Ciao3 A G 17: 26,001,128 (GRCm39) H460R probably benign Het
Cyp2t4 G A 7: 26,857,228 (GRCm39) V356M probably damaging Het
D430041D05Rik T C 2: 104,044,604 (GRCm39) D683G probably damaging Het
Dhcr24 T A 4: 106,443,552 (GRCm39) I410N probably damaging Het
Dmap1 T A 4: 117,539,085 (GRCm39) E17V probably benign Het
Dnaaf9 C T 2: 130,554,286 (GRCm39) R921K probably benign Het
Dnah7a A G 1: 53,535,109 (GRCm39) I2717T possibly damaging Het
Epb41l3 G T 17: 69,554,741 (GRCm39) K280N probably damaging Het
Espl1 T A 15: 102,208,290 (GRCm39) M432K probably damaging Het
Fgf5 C A 5: 98,409,874 (GRCm39) A141E probably damaging Het
Fto T A 8: 92,211,795 (GRCm39) F373L probably damaging Het
Gpatch1 T C 7: 35,007,694 (GRCm39) D122G probably damaging Het
Ints11 T C 4: 155,972,568 (GRCm39) probably null Het
Jarid2 A G 13: 45,056,405 (GRCm39) Q398R probably benign Het
Kcnh1 A G 1: 191,959,208 (GRCm39) D254G probably damaging Het
Lamc3 C T 2: 31,825,737 (GRCm39) probably benign Het
Lamc3 C T 2: 31,825,738 (GRCm39) probably benign Het
Ltbp4 T C 7: 27,028,297 (GRCm39) probably null Het
Mcm6 A G 1: 128,267,119 (GRCm39) Y575H probably damaging Het
Myh9 A C 15: 77,671,826 (GRCm39) Y422D probably damaging Het
Or4c35 T C 2: 89,808,506 (GRCm39) L128P probably damaging Het
Or5b105 A C 19: 13,080,187 (GRCm39) N160K possibly damaging Het
Or8b47 T C 9: 38,435,021 (GRCm39) probably benign Het
Plcb1 T C 2: 135,206,682 (GRCm39) probably benign Het
Pmfbp1 A G 8: 110,246,881 (GRCm39) E251G probably damaging Het
Psg27 A T 7: 18,291,054 (GRCm39) V383E probably damaging Het
Ptprn A T 1: 75,224,517 (GRCm39) H946Q possibly damaging Het
Rbl1 A G 2: 157,009,333 (GRCm39) V734A probably benign Het
Rspry1 T A 8: 95,376,439 (GRCm39) N320K probably damaging Het
Ryr1 A T 7: 28,760,965 (GRCm39) V3219D probably damaging Het
Ryr2 C A 13: 11,774,721 (GRCm39) W1145L probably damaging Het
Scel A T 14: 103,813,683 (GRCm39) R319* probably null Het
Stxbp2 C T 8: 3,685,629 (GRCm39) T226I probably benign Het
Tac1 A T 6: 7,562,410 (GRCm39) N106I possibly damaging Het
Trim13 G T 14: 61,842,693 (GRCm39) probably null Het
Tspan31 T G 10: 126,904,778 (GRCm39) probably null Het
Usp36 C T 11: 118,155,609 (GRCm39) V723M probably benign Het
Utrn A T 10: 12,566,504 (GRCm39) N1219K probably damaging Het
Vcan G T 13: 89,836,742 (GRCm39) T2934K probably damaging 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
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
R6146:Cgn UTSW 3 94,674,435 (GRCm39) missense possibly damaging 0.94
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
Posted On 2015-12-18