Incidental Mutation 'IGL02127:Cgnl1'
ID 280908
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cgnl1
Ensembl Gene ENSMUSG00000032232
Gene Name cingulin-like 1
Synonyms 4933421H10Rik, Jacop, 9930020M10Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02127
Quality Score
Status
Chromosome 9
Chromosomal Location 71533791-71678884 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 71633135 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 72 (N72I)
Ref Sequence ENSEMBL: ENSMUSP00000113917 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072899] [ENSMUST00000121322] [ENSMUST00000122065]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000072899
AA Change: N72I

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000072672
Gene: ENSMUSG00000032232
AA Change: N72I

DomainStartEndE-ValueType
low complexity region 292 309 N/A INTRINSIC
low complexity region 539 550 N/A INTRINSIC
low complexity region 615 634 N/A INTRINSIC
low complexity region 638 653 N/A INTRINSIC
low complexity region 728 739 N/A INTRINSIC
Pfam:Myosin_tail_1 984 1255 5.4e-30 PFAM
low complexity region 1258 1278 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000121322
AA Change: N72I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113917
Gene: ENSMUSG00000032232
AA Change: N72I

DomainStartEndE-ValueType
low complexity region 292 309 N/A INTRINSIC
low complexity region 539 550 N/A INTRINSIC
low complexity region 615 634 N/A INTRINSIC
low complexity region 638 653 N/A INTRINSIC
Pfam:Myosin_tail_1 909 1184 2.3e-30 PFAM
low complexity region 1187 1207 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000122065
AA Change: N72I

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000112479
Gene: ENSMUSG00000032232
AA Change: N72I

DomainStartEndE-ValueType
low complexity region 292 309 N/A INTRINSIC
low complexity region 539 550 N/A INTRINSIC
Pfam:Myosin_tail_1 582 1034 1.3e-12 PFAM
Pfam:Myosin_tail_1 1011 1253 7.7e-38 PFAM
low complexity region 1258 1278 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a protein localized to the tight junctions and adherens junctions in vertebrate epithelial cells. The encoded protein regulates the activity of Rho family GTPases during junction assembly and at confluence. At the adherens junctions, the encoded protein is part of a protein complex that links E-cadherin to the microtubule cytoskeleton. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2015]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn4 A T 7: 28,597,305 (GRCm39) M661K probably benign Het
Arpin G A 7: 79,577,941 (GRCm39) R163W probably benign Het
Atm C A 9: 53,399,283 (GRCm39) D1573Y probably damaging Het
Avil A G 10: 126,847,695 (GRCm39) N540S probably benign Het
Btnl6 T C 17: 34,733,017 (GRCm39) Q282R probably benign Het
Cacna2d3 T C 14: 28,785,832 (GRCm39) probably benign Het
Cd300ld4 T C 11: 114,913,545 (GRCm39) N170S probably benign Het
Cntnap3 T C 13: 64,946,878 (GRCm39) probably benign Het
Col27a1 A T 4: 63,143,379 (GRCm39) T356S possibly damaging Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Cyp2c69 G T 19: 39,839,501 (GRCm39) T374N probably damaging Het
Cyp2d26 T C 15: 82,675,307 (GRCm39) E349G probably benign Het
Dnah1 T C 14: 31,026,885 (GRCm39) E713G probably benign Het
Dnah7b A T 1: 46,179,035 (GRCm39) T903S probably benign Het
Enthd1 T C 15: 80,336,943 (GRCm39) D497G probably damaging Het
Grk4 C T 5: 34,867,530 (GRCm39) T165I probably benign Het
Hmcn1 G A 1: 150,598,358 (GRCm39) S1648L probably benign Het
Ints11 A G 4: 155,971,320 (GRCm39) Y278C probably damaging Het
Kcnu1 T C 8: 26,382,090 (GRCm39) L480P probably damaging Het
Kif5c G A 2: 49,591,122 (GRCm39) probably null Het
Kifbp C T 10: 62,414,128 (GRCm39) R10H probably benign Het
Klhl35 T C 7: 99,120,888 (GRCm39) probably benign Het
Lemd3 A T 10: 120,761,933 (GRCm39) D807E possibly damaging Het
Lrrc37a G A 11: 103,395,365 (GRCm39) T20I probably benign Het
Mab21l1 C T 3: 55,691,016 (GRCm39) A201V probably benign Het
Mab21l2 T C 3: 86,454,124 (GRCm39) D292G possibly damaging Het
Map3k21 T C 8: 126,668,886 (GRCm39) L824P probably benign Het
Myo5a T C 9: 75,120,263 (GRCm39) V1687A probably benign Het
Myo5c G T 9: 75,208,184 (GRCm39) W1639C probably damaging Het
Nfya G T 17: 48,700,283 (GRCm39) probably benign Het
Or4a76 A G 2: 89,461,098 (GRCm39) I48T probably damaging Het
Papolg A G 11: 23,820,870 (GRCm39) probably benign Het
Pcdh8 G A 14: 80,006,686 (GRCm39) R626C probably damaging Het
Pclo T C 5: 14,815,159 (GRCm39) probably benign Het
Pogz T C 3: 94,782,014 (GRCm39) probably benign Het
Polg G A 7: 79,107,915 (GRCm39) probably benign Het
Scn9a A G 2: 66,377,479 (GRCm39) V401A probably damaging Het
Scn9a A T 2: 66,325,170 (GRCm39) I1317K probably damaging Het
St7 T A 6: 17,844,968 (GRCm39) probably benign Het
Tdo2 C T 3: 81,866,232 (GRCm39) V344M probably damaging Het
Trmt1 T C 8: 85,424,100 (GRCm39) V400A probably damaging Het
Trrap A G 5: 144,753,243 (GRCm39) N1856S probably benign Het
Ube3a G A 7: 58,925,789 (GRCm39) G210D probably benign Het
Ubqln5 A G 7: 103,778,689 (GRCm39) V45A probably damaging Het
Wdpcp T A 11: 21,661,958 (GRCm39) M410K possibly damaging Het
Xpa G A 4: 46,185,606 (GRCm39) T124M probably damaging Het
Zpbp2 A G 11: 98,446,367 (GRCm39) E172G probably damaging Het
Other mutations in Cgnl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00556:Cgnl1 APN 9 71,563,338 (GRCm39) missense probably benign 0.00
IGL01128:Cgnl1 APN 9 71,631,843 (GRCm39) missense possibly damaging 0.81
IGL01450:Cgnl1 APN 9 71,539,144 (GRCm39) splice site probably benign
IGL01788:Cgnl1 APN 9 71,562,672 (GRCm39) missense probably benign
IGL01806:Cgnl1 APN 9 71,557,604 (GRCm39) missense probably damaging 0.99
IGL01906:Cgnl1 APN 9 71,631,849 (GRCm39) missense probably benign 0.00
IGL01933:Cgnl1 APN 9 71,552,765 (GRCm39) splice site probably benign
IGL01939:Cgnl1 APN 9 71,632,286 (GRCm39) missense probably damaging 1.00
IGL01947:Cgnl1 APN 9 71,632,326 (GRCm39) missense probably damaging 0.99
IGL02379:Cgnl1 APN 9 71,552,835 (GRCm39) missense possibly damaging 0.82
IGL02510:Cgnl1 APN 9 71,632,639 (GRCm39) missense probably benign 0.41
FR4548:Cgnl1 UTSW 9 71,631,999 (GRCm39) small insertion probably benign
R0058:Cgnl1 UTSW 9 71,632,122 (GRCm39) missense probably damaging 0.99
R0058:Cgnl1 UTSW 9 71,548,679 (GRCm39) missense probably damaging 1.00
R0105:Cgnl1 UTSW 9 71,563,384 (GRCm39) missense probably benign
R0220:Cgnl1 UTSW 9 71,632,225 (GRCm39) missense possibly damaging 0.68
R0242:Cgnl1 UTSW 9 71,628,939 (GRCm39) missense probably damaging 1.00
R0401:Cgnl1 UTSW 9 71,612,521 (GRCm39) missense probably damaging 1.00
R0541:Cgnl1 UTSW 9 71,558,535 (GRCm39) missense possibly damaging 0.54
R1018:Cgnl1 UTSW 9 71,633,340 (GRCm39) missense probably damaging 1.00
R1026:Cgnl1 UTSW 9 71,624,713 (GRCm39) missense possibly damaging 0.91
R1056:Cgnl1 UTSW 9 71,633,177 (GRCm39) missense probably damaging 1.00
R1299:Cgnl1 UTSW 9 71,628,994 (GRCm39) splice site probably benign
R1513:Cgnl1 UTSW 9 71,631,872 (GRCm39) missense probably benign 0.02
R1546:Cgnl1 UTSW 9 71,633,097 (GRCm39) missense probably benign
R1599:Cgnl1 UTSW 9 71,548,709 (GRCm39) missense probably benign 0.02
R1657:Cgnl1 UTSW 9 71,633,226 (GRCm39) missense probably damaging 0.98
R1970:Cgnl1 UTSW 9 71,632,817 (GRCm39) missense probably benign 0.10
R2004:Cgnl1 UTSW 9 71,537,821 (GRCm39) missense probably damaging 1.00
R2080:Cgnl1 UTSW 9 71,563,378 (GRCm39) missense probably benign 0.01
R2085:Cgnl1 UTSW 9 71,538,160 (GRCm39) missense probably damaging 1.00
R2357:Cgnl1 UTSW 9 71,632,950 (GRCm39) nonsense probably null
R2402:Cgnl1 UTSW 9 71,632,461 (GRCm39) missense probably damaging 1.00
R3954:Cgnl1 UTSW 9 71,631,945 (GRCm39) missense probably benign 0.01
R4043:Cgnl1 UTSW 9 71,612,575 (GRCm39) missense probably damaging 1.00
R4127:Cgnl1 UTSW 9 71,631,822 (GRCm39) missense probably benign 0.00
R4825:Cgnl1 UTSW 9 71,537,806 (GRCm39) missense probably benign 0.00
R4851:Cgnl1 UTSW 9 71,632,314 (GRCm39) missense probably damaging 1.00
R4882:Cgnl1 UTSW 9 71,624,683 (GRCm39) missense probably benign 0.00
R4996:Cgnl1 UTSW 9 71,632,108 (GRCm39) small deletion probably benign
R5057:Cgnl1 UTSW 9 71,632,076 (GRCm39) missense probably damaging 0.99
R5263:Cgnl1 UTSW 9 71,539,936 (GRCm39) nonsense probably null
R5402:Cgnl1 UTSW 9 71,536,603 (GRCm39) missense probably damaging 1.00
R5744:Cgnl1 UTSW 9 71,537,957 (GRCm39) splice site probably null
R5770:Cgnl1 UTSW 9 71,552,769 (GRCm39) splice site probably null
R6911:Cgnl1 UTSW 9 71,563,497 (GRCm39) missense possibly damaging 0.82
R7014:Cgnl1 UTSW 9 71,632,416 (GRCm39) missense possibly damaging 0.86
R7106:Cgnl1 UTSW 9 71,633,015 (GRCm39) missense probably benign 0.00
R7203:Cgnl1 UTSW 9 71,631,815 (GRCm39) missense possibly damaging 0.80
R7231:Cgnl1 UTSW 9 71,539,927 (GRCm39) missense probably benign 0.39
R7241:Cgnl1 UTSW 9 71,632,052 (GRCm39) missense probably benign
R7288:Cgnl1 UTSW 9 71,632,846 (GRCm39) missense possibly damaging 0.67
R7327:Cgnl1 UTSW 9 71,633,165 (GRCm39) missense possibly damaging 0.48
R7390:Cgnl1 UTSW 9 71,552,931 (GRCm39) missense probably benign 0.04
R7529:Cgnl1 UTSW 9 71,539,040 (GRCm39) missense probably damaging 1.00
R7793:Cgnl1 UTSW 9 71,632,917 (GRCm39) missense probably damaging 1.00
R7975:Cgnl1 UTSW 9 71,632,604 (GRCm39) missense probably benign 0.00
R7990:Cgnl1 UTSW 9 71,632,547 (GRCm39) missense probably damaging 1.00
R8502:Cgnl1 UTSW 9 71,537,887 (GRCm39) missense probably damaging 0.99
R8926:Cgnl1 UTSW 9 71,632,535 (GRCm39) missense probably benign
R9010:Cgnl1 UTSW 9 71,558,631 (GRCm39) missense probably damaging 1.00
R9106:Cgnl1 UTSW 9 71,628,873 (GRCm39) splice site probably benign
R9189:Cgnl1 UTSW 9 71,630,847 (GRCm39) nonsense probably null
R9395:Cgnl1 UTSW 9 71,539,954 (GRCm39) missense probably benign 0.01
R9680:Cgnl1 UTSW 9 71,562,632 (GRCm39) missense possibly damaging 0.65
R9694:Cgnl1 UTSW 9 71,632,803 (GRCm39) missense probably benign 0.32
R9760:Cgnl1 UTSW 9 71,552,853 (GRCm39) nonsense probably null
RF015:Cgnl1 UTSW 9 71,631,997 (GRCm39) small insertion probably benign
RF042:Cgnl1 UTSW 9 71,631,997 (GRCm39) small insertion probably benign
Posted On 2015-04-16