Incidental Mutation 'R4996:Cgnl1'
ID 385265
Institutional Source Beutler Lab
Gene Symbol Cgnl1
Ensembl Gene ENSMUSG00000032232
Gene Name cingulin-like 1
Synonyms 4933421H10Rik, Jacop, 9930020M10Rik
MMRRC Submission 042590-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4996 (G1)
Quality Score 217
Status Not validated
Chromosome 9
Chromosomal Location 71533791-71678884 bp(-) (GRCm39)
Type of Mutation small deletion (3 aa in frame mutation)
DNA Base Change (assembly) CTTGCCCAGGTT to CTT at 71632108 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
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
SMART Domains Protein: ENSMUSP00000072672
Gene: ENSMUSG00000032232

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
SMART Domains Protein: ENSMUSP00000113917
Gene: ENSMUSG00000032232

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
SMART Domains Protein: ENSMUSP00000112479
Gene: ENSMUSG00000032232

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
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.1%
  • 20x: 91.5%
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930505A04Rik C T 11: 30,376,349 (GRCm39) V173M probably damaging Het
Actl11 A G 9: 107,808,934 (GRCm39) I1086V possibly damaging Het
Adgrv1 T C 13: 81,726,853 (GRCm39) S500G probably benign Het
Ahcyl1 A T 3: 107,575,603 (GRCm39) V394E probably damaging Het
Alg9 T C 9: 50,720,005 (GRCm39) F494L probably damaging Het
Ankrd55 C A 13: 112,492,622 (GRCm39) D264E possibly damaging Het
Asb14 A G 14: 26,634,073 (GRCm39) N426S possibly damaging Het
Atm A T 9: 53,435,807 (GRCm39) F168I probably benign Het
Atp13a4 A T 16: 29,290,822 (GRCm39) I209N probably damaging Het
BB014433 A T 8: 15,092,166 (GRCm39) L229Q probably benign Het
Calml3 T C 13: 3,854,142 (GRCm39) D21G probably damaging Het
Capn10 A G 1: 92,872,858 (GRCm39) N528S probably damaging Het
Ccnl2 T A 4: 155,897,981 (GRCm39) D141E possibly damaging Het
Cd163 A G 6: 124,296,106 (GRCm39) I817V probably benign Het
Cln6 T A 9: 62,757,937 (GRCm39) I232N probably damaging Het
Col22a1 A C 15: 71,879,010 (GRCm39) V49G probably damaging Het
Csmd1 A T 8: 15,960,452 (GRCm39) M3321K probably damaging Het
Cyp2u1 T A 3: 131,091,933 (GRCm39) M196L probably benign Het
Dlec1 T G 9: 118,975,118 (GRCm39) L1566R probably damaging Het
Dnajc3 A G 14: 119,209,839 (GRCm39) T305A probably benign Het
Drp2 G A X: 133,342,065 (GRCm39) R567H probably damaging Homo
Efhd1 G T 1: 87,192,280 (GRCm39) G37W possibly damaging Het
Exph5 G C 9: 53,286,910 (GRCm39) E1330D possibly damaging Het
Fbln2 A T 6: 91,242,992 (GRCm39) Y913F probably benign Het
Fmnl1 G A 11: 103,073,482 (GRCm39) S167N possibly damaging Het
Frs3 A G 17: 48,012,635 (GRCm39) E114G probably damaging Het
Gmpr2 T C 14: 55,914,252 (GRCm39) I169T probably damaging Het
Gria2 A G 3: 80,614,448 (GRCm39) S531P probably damaging Het
Hace1 G A 10: 45,526,046 (GRCm39) A296T probably benign Het
Ift70a1 C T 2: 75,810,266 (GRCm39) G606S probably benign Het
Inhbb A C 1: 119,348,548 (GRCm39) L90R probably damaging Het
Insr C T 8: 3,242,665 (GRCm39) R18Q probably null Het
Kdm6b G T 11: 69,296,557 (GRCm39) P570Q probably damaging Het
Lama3 T C 18: 12,651,800 (GRCm39) V1803A probably benign Het
Lpin3 T A 2: 160,747,207 (GRCm39) L811Q probably damaging Het
Lrrc8e C T 8: 4,285,166 (GRCm39) L464F probably damaging Het
Micall2 A G 5: 139,696,344 (GRCm39) S729P probably benign Het
Naca C T 10: 127,878,298 (GRCm39) probably benign Het
Nav1 A T 1: 135,393,709 (GRCm39) S1010T probably damaging Het
Nefm T C 14: 68,358,570 (GRCm39) probably benign Het
Nlrp9c A T 7: 26,085,172 (GRCm39) F136I possibly damaging Het
Nup210 A T 6: 91,030,418 (GRCm39) F137Y probably benign Het
Or1o3 A G 17: 37,573,758 (GRCm39) S266P probably benign Het
Or3a1c A G 11: 74,046,157 (GRCm39) H59R probably damaging Het
Or8k32 T C 2: 86,368,615 (GRCm39) I215V probably benign Het
Otog C A 7: 45,948,030 (GRCm39) H2344N possibly damaging Het
Otog C A 7: 45,954,934 (GRCm39) C517* probably null Het
Pcdhac1 C T 18: 37,225,580 (GRCm39) Q798* probably null Het
Pdhx T C 2: 102,860,657 (GRCm39) D330G probably damaging Het
Peg10 ACATCAGGATCC ACATCAGGATCCCCATCAGGATCC 6: 4,756,454 (GRCm39) probably benign Het
Pgr C A 9: 8,900,914 (GRCm39) P149Q probably damaging Het
Plaat1 G A 16: 29,036,456 (GRCm39) W31* probably null Het
Ppm1h A T 10: 122,777,245 (GRCm39) I504F probably damaging Het
Ppp6r3 A G 19: 3,523,833 (GRCm39) S556P probably damaging Het
Ranbp9 G A 13: 43,578,570 (GRCm39) Q168* probably null Het
Relb A T 7: 19,349,528 (GRCm39) L259Q probably benign Het
Rfx5 G A 3: 94,863,126 (GRCm39) V73I probably benign Het
Rgcc T C 14: 79,527,716 (GRCm39) D125G possibly damaging Het
Rmnd5b A G 11: 51,518,735 (GRCm39) V86A probably damaging Het
Slc15a5 G A 6: 138,020,583 (GRCm39) T250M probably damaging Het
Slc7a2 A T 8: 41,365,599 (GRCm39) K477* probably null Het
Slx9 A T 10: 77,351,367 (GRCm39) W14R probably null Het
Smc2 T A 4: 52,461,042 (GRCm39) probably null Het
Sox5 A T 6: 143,974,070 (GRCm39) L226* probably null Het
Sp140l2 G T 1: 85,224,815 (GRCm39) A240E probably benign Het
Syne2 A G 12: 75,990,724 (GRCm39) E1903G possibly damaging Het
Tenm3 A T 8: 48,688,861 (GRCm39) I2226N probably damaging Het
Tmtc3 A T 10: 100,283,086 (GRCm39) I823N probably damaging Het
Top6bl T A 19: 4,676,112 (GRCm39) K673N probably benign Het
Tor3a T C 1: 156,483,342 (GRCm39) Y360C probably damaging Het
Trpc3 T C 3: 36,716,967 (GRCm39) E357G probably benign Het
Tubgcp6 A T 15: 88,987,693 (GRCm39) N1093K possibly damaging Het
Vmn1r64 T A 7: 5,887,052 (GRCm39) T164S probably benign Het
Vmn2r40 T A 7: 8,911,166 (GRCm39) Q709L probably damaging Het
Vmn2r81 A T 10: 79,129,247 (GRCm39) I713L probably benign Het
Washc5 T C 15: 59,205,484 (GRCm39) T686A probably benign Het
Wipf1 GCCTCCTCCTCCTCCTCCTCCTCC GCCTCCTCCTCCTCCTCCTCC 2: 73,270,418 (GRCm39) 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
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
Predicted Primers PCR Primer
(F):5'- CAACGTGGCAGTGGCTATTTTG -3'
(R):5'- CCTGCTCAATTCCTGGTGTG -3'

Sequencing Primer
(F):5'- AACGTGGCAGTGGCTATTTTGATTTC -3'
(R):5'- GGACCAGTTAATTGAAAAATTTGACC -3'
Posted On 2016-05-10