Incidental Mutation 'R7231:Cgnl1'
ID 562482
Institutional Source Beutler Lab
Gene Symbol Cgnl1
Ensembl Gene ENSMUSG00000032232
Gene Name cingulin-like 1
Synonyms 4933421H10Rik, Jacop, 9930020M10Rik
MMRRC Submission 045342-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7231 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 71533791-71678884 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 71539927 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 1106 (A1106T)
Ref Sequence ENSEMBL: ENSMUSP00000112479 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072899] [ENSMUST00000121322] [ENSMUST00000122065]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000072899
AA Change: A1106T

PolyPhen 2 Score 0.392 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000072672
Gene: ENSMUSG00000032232
AA Change: A1106T

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 benign
Transcript: ENSMUST00000121322
AA Change: A1035T

PolyPhen 2 Score 0.392 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000113917
Gene: ENSMUSG00000032232
AA Change: A1035T

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 benign
Transcript: ENSMUST00000122065
AA Change: A1106T

PolyPhen 2 Score 0.392 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000112479
Gene: ENSMUSG00000032232
AA Change: A1106T

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
Meta Mutation Damage Score 0.0711 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 98% (78/80)
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: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A T 11: 9,244,175 (GRCm39) T2013S probably benign Het
Ablim3 A G 18: 61,938,135 (GRCm39) probably null Het
Acvrl1 T A 15: 101,034,104 (GRCm39) C206* probably null Het
Adamts15 C A 9: 30,817,454 (GRCm39) R541S probably damaging Het
Add3 A G 19: 53,221,577 (GRCm39) I230V probably benign Het
Ankrd27 A G 7: 35,327,871 (GRCm39) D742G possibly damaging Het
Asxl3 A G 18: 22,650,597 (GRCm39) E862G probably damaging Het
Asxl3 A T 18: 22,544,556 (GRCm39) probably null Het
Atp2b2 G A 6: 113,742,693 (GRCm39) T798M possibly damaging Het
Car12 T C 9: 66,659,599 (GRCm39) I208T probably damaging Het
Cgn T A 3: 94,680,502 (GRCm39) Q600L probably damaging Het
Cmtr2 T C 8: 110,949,178 (GRCm39) V496A probably benign Het
Cplx4 C A 18: 66,090,123 (GRCm39) D99Y probably damaging Het
Cyfip2 T C 11: 46,114,963 (GRCm39) T915A probably benign Het
Cyp4a32 T C 4: 115,466,894 (GRCm39) L193P probably damaging Het
Dennd5b C T 6: 148,946,102 (GRCm39) R503Q probably damaging Het
Depdc5 C A 5: 33,059,209 (GRCm39) Q303K possibly damaging Het
Dlx1 T A 2: 71,362,840 (GRCm39) M249K possibly damaging Het
Dnah10 A T 5: 124,890,892 (GRCm39) E3218V probably benign Het
Dnah9 T C 11: 65,856,473 (GRCm39) D2896G probably damaging Het
Dtx4 C A 19: 12,447,022 (GRCm39) G557* probably null Het
Eps8l2 A G 7: 140,940,305 (GRCm39) N512D probably damaging Het
Fam20a T C 11: 109,612,201 (GRCm39) D114G possibly damaging Het
Fbln1 T C 15: 85,090,353 (GRCm39) S7P unknown Het
Fli1 T C 9: 32,335,484 (GRCm39) E316G probably damaging Het
Fmn2 CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC 1: 174,436,769 (GRCm39) probably benign Het
Haus8 G A 8: 71,705,781 (GRCm39) T302I probably benign Het
Hmcn1 T C 1: 150,514,627 (GRCm39) I3582V probably benign Het
Hnrnpul1 G A 7: 25,447,842 (GRCm39) Q161* probably null Het
Hsf4 C T 8: 105,998,779 (GRCm39) A223V probably damaging Het
Ighg2c A G 12: 113,251,636 (GRCm39) W164R Het
Isl1 A G 13: 116,439,826 (GRCm39) V174A probably benign Het
Itih4 A T 14: 30,618,571 (GRCm39) I661F probably benign Het
Klhl14 A T 18: 21,785,193 (GRCm39) L78Q probably damaging Het
L3mbtl3 T A 10: 26,215,180 (GRCm39) I177F unknown Het
Lingo3 T A 10: 80,670,938 (GRCm39) T331S possibly damaging Het
Lrrc36 T C 8: 106,187,689 (GRCm39) V535A possibly damaging Het
Mapk8ip2 T G 15: 89,342,279 (GRCm39) S497A probably benign Het
Mbip A G 12: 56,384,547 (GRCm39) probably null Het
Nelfa C T 5: 34,056,169 (GRCm39) G498D probably damaging Het
Nherf2 C T 17: 24,869,078 (GRCm39) R16H probably damaging Het
Nlrc5 T A 8: 95,248,433 (GRCm39) probably null Het
Or2ag2b A T 7: 106,417,650 (GRCm39) Y120F probably damaging Het
Or4f59 A T 2: 111,872,711 (GRCm39) V222D probably damaging Het
Or56a3 T C 7: 104,734,994 (GRCm39) S24P possibly damaging Het
Or7e171-ps1 T A 9: 19,852,855 (GRCm39) T294S unknown Het
Pde2a A G 7: 101,155,160 (GRCm39) Y567C probably damaging Het
Pdia4 A T 6: 47,777,891 (GRCm39) F367Y probably benign Het
Pkdrej C A 15: 85,700,389 (GRCm39) C1849F possibly damaging Het
Plekhj1 T G 10: 80,633,492 (GRCm39) T52P probably damaging Het
Ppp2r5d A T 17: 46,994,986 (GRCm39) Y572N probably benign Het
Prkcq T A 2: 11,295,262 (GRCm39) Y570* probably null Het
Ptpn3 T A 4: 57,245,062 (GRCm39) D226V probably damaging Het
Rab1b A G 19: 5,155,229 (GRCm39) S22P probably damaging Het
Ralgapa1 A G 12: 55,650,976 (GRCm39) S2060P probably damaging Het
Rnf148 G T 6: 23,654,890 (GRCm39) S35R probably benign Het
Runx2 G A 17: 45,125,079 (GRCm39) P80L probably damaging Het
Samd15 T A 12: 87,247,818 (GRCm39) S168T possibly damaging Het
Slc26a4 T A 12: 31,597,945 (GRCm39) N167I probably damaging Het
Slc39a1 C A 3: 90,159,097 (GRCm39) H141Q probably benign Het
Snx21 T C 2: 164,628,121 (GRCm39) S46P probably benign Het
Strip2 A G 6: 29,944,486 (GRCm39) S657G probably damaging Het
Stxbp3 G A 3: 108,708,125 (GRCm39) P392L probably damaging Het
Suclg1 G A 6: 73,240,954 (GRCm39) R161H probably benign Het
Tas1r3 T C 4: 155,947,283 (GRCm39) Y134C probably damaging Het
Tgif1 T A 17: 71,153,168 (GRCm39) Q114L probably damaging Het
Tll2 A G 19: 41,074,673 (GRCm39) F964L probably benign Het
Tmem181a T C 17: 6,348,195 (GRCm39) S247P possibly damaging Het
Trav23 A T 14: 54,215,025 (GRCm39) R79S probably damaging Het
Trf C A 9: 103,102,347 (GRCm39) C177F probably damaging Het
Triml1 T C 8: 43,589,408 (GRCm39) Y260C probably benign Het
Tulp4 T C 17: 6,286,510 (GRCm39) F1513L probably benign Het
Umodl1 G A 17: 31,205,090 (GRCm39) V562I probably damaging Het
Ush2a A G 1: 188,491,960 (GRCm39) K3083R possibly damaging Het
Vmn1r74 A T 7: 11,580,888 (GRCm39) I63F probably benign Het
Vmn2r38 C T 7: 9,100,637 (GRCm39) C43Y possibly damaging Het
Vmn2r50 A T 7: 9,787,010 (GRCm39) N32K probably benign Het
Vps13d A G 4: 144,784,032 (GRCm39) V3914A Het
Vwa5b2 A G 16: 20,422,878 (GRCm39) T984A probably benign Het
Zc3h3 C T 15: 75,712,231 (GRCm39) V77M probably damaging Het
Zfp397 A T 18: 24,093,415 (GRCm39) H300L probably damaging Het
Zfp950 G A 19: 61,107,650 (GRCm39) R478C probably benign 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
IGL02127:Cgnl1 APN 9 71,633,135 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- TGGTTGAGCATGAGCCTCATC -3'
(R):5'- CAGAGTTAGCTACAGTGACTGCTG -3'

Sequencing Primer
(F):5'- TGAGCATGAGCCTCATCCTACC -3'
(R):5'- GTTAACTATCACTAAGGGCATCTAAG -3'
Posted On 2019-06-26