Incidental Mutation 'IGL02420:Cntn6'
ID 292651
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cntn6
Ensembl Gene ENSMUSG00000030092
Gene Name contactin 6
Synonyms NB-3
Accession Numbers
Essential gene? Probably non essential (E-score: 0.141) question?
Stock # IGL02420
Quality Score
Status
Chromosome 6
Chromosomal Location 104469751-104840367 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to A at 104823103 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000124025 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000089215] [ENSMUST00000161070] [ENSMUST00000162872]
AlphaFold Q9JMB8
Predicted Effect probably null
Transcript: ENSMUST00000089215
SMART Domains Protein: ENSMUSP00000086623
Gene: ENSMUSG00000030092

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
IGc2 41 107 5.24e-7 SMART
IG 129 217 2.28e-7 SMART
IGc2 240 304 4e-12 SMART
IGc2 330 393 4.52e-11 SMART
IGc2 422 486 5.48e-10 SMART
IGc2 512 584 1.44e-4 SMART
FN3 598 684 2.17e-11 SMART
FN3 701 787 8.62e0 SMART
FN3 803 888 9.92e-6 SMART
FN3 903 983 8.17e0 SMART
Predicted Effect probably null
Transcript: ENSMUST00000161070
SMART Domains Protein: ENSMUSP00000124714
Gene: ENSMUSG00000030092

DomainStartEndE-ValueType
SCOP:d1cs6a4 4 40 5e-4 SMART
IG 57 145 2.28e-7 SMART
IGc2 168 232 4e-12 SMART
IGc2 258 321 4.52e-11 SMART
IGc2 350 414 5.48e-10 SMART
IGc2 440 512 1.44e-4 SMART
FN3 526 612 2.17e-11 SMART
FN3 629 715 8.62e0 SMART
FN3 731 816 9.92e-6 SMART
FN3 831 911 8.17e0 SMART
Predicted Effect probably null
Transcript: ENSMUST00000162872
SMART Domains Protein: ENSMUSP00000124025
Gene: ENSMUSG00000030092

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
IGc2 41 107 5.24e-7 SMART
IG 129 217 2.28e-7 SMART
IGc2 240 304 4e-12 SMART
IGc2 330 393 4.52e-11 SMART
IGc2 422 486 5.48e-10 SMART
IGc2 512 584 1.44e-4 SMART
FN3 598 684 2.17e-11 SMART
FN3 701 787 8.62e0 SMART
FN3 803 888 9.92e-6 SMART
FN3 903 983 8.17e0 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the immunoglobulin superfamily. It is a glycosylphosphatidylinositol (GPI)-anchored neuronal membrane protein that functions as a cell adhesion molecule. It may play a role in the formation of axon connections in the developing nervous system. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
PHENOTYPE: Mice homozygous for disruption of this gene display impaired coordination without any obvious morphological of physiological abnormalities in the brain. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsbg3 A G 17: 57,187,494 (GRCm39) N136S probably damaging Het
Adcy8 A G 15: 64,659,303 (GRCm39) S496P probably damaging Het
Agbl3 T A 6: 34,762,242 (GRCm39) S81T possibly damaging Het
Apobec1 A T 6: 122,558,531 (GRCm39) Y75N probably benign Het
Asic2 A G 11: 80,772,479 (GRCm39) L517P probably benign Het
Atp8a1 A G 5: 67,840,126 (GRCm39) S752P probably damaging Het
Blm T C 7: 80,145,754 (GRCm39) Y775C probably damaging Het
C1qtnf5 T C 9: 44,019,901 (GRCm39) I175T probably benign Het
Ccdc81 G A 7: 89,524,946 (GRCm39) T545I probably benign Het
Ccdc88b T C 19: 6,834,317 (GRCm39) E174G probably damaging Het
Chl1 G A 6: 103,692,330 (GRCm39) V1066M probably damaging Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Cyren T C 6: 34,851,404 (GRCm39) Y150C probably damaging Het
Cysrt1 T C 2: 25,129,360 (GRCm39) I51V probably benign Het
Dnah7a T C 1: 53,725,702 (GRCm39) N69S probably benign Het
Fam83d T C 2: 158,627,655 (GRCm39) L448P probably benign Het
Gm9631 G A 11: 121,834,478 (GRCm39) Het
Hmcn1 T C 1: 150,598,175 (GRCm39) Y1709C probably damaging Het
Inppl1 G A 7: 101,481,526 (GRCm39) probably benign Het
Iqcc T C 4: 129,510,748 (GRCm39) T256A probably benign Het
Itprid2 T C 2: 79,465,986 (GRCm39) S35P probably damaging Het
Lyst G A 13: 13,835,541 (GRCm39) C1741Y probably benign Het
Lyz1 A T 10: 117,124,535 (GRCm39) C134S probably damaging Het
Mpzl3 T C 9: 44,977,815 (GRCm39) I141T possibly damaging Het
Mterf1a T C 5: 3,941,047 (GRCm39) N274D probably damaging Het
Myo18a T A 11: 77,709,519 (GRCm39) V543D possibly damaging Het
Myo18b A T 5: 112,975,852 (GRCm39) D1332E possibly damaging Het
Or2r11 A G 6: 42,437,110 (GRCm39) V281A probably benign Het
Pcdh15 A T 10: 74,138,938 (GRCm39) D333V probably damaging Het
Plekha7 A G 7: 115,757,469 (GRCm39) Y494H probably damaging Het
Plekhg1 A G 10: 3,914,106 (GRCm39) N1276S probably damaging Het
Ppig T C 2: 69,562,571 (GRCm39) V5A probably benign Het
Prag1 A T 8: 36,614,580 (GRCm39) probably benign Het
Prom1 T C 5: 44,220,496 (GRCm39) N84S probably benign Het
Ptprh T A 7: 4,583,929 (GRCm39) Y221F probably damaging Het
Qsox2 A G 2: 26,110,731 (GRCm39) Y162H probably benign Het
Rab2a C T 4: 8,572,553 (GRCm39) T49M possibly damaging Het
Ring1 A G 17: 34,242,122 (GRCm39) S96P possibly damaging Het
Ripk3 A G 14: 56,022,691 (GRCm39) F411S probably benign Het
Rock1 T C 18: 10,070,619 (GRCm39) probably null Het
Rtn4rl1 A G 11: 75,156,645 (GRCm39) N359S probably damaging Het
Sufu A G 19: 46,413,481 (GRCm39) T76A probably damaging Het
Sugct C A 13: 17,627,053 (GRCm39) V267F probably damaging Het
Tcf4 A T 18: 69,697,210 (GRCm39) R29W probably damaging Het
Tnfsf18 A T 1: 161,331,158 (GRCm39) I103L probably benign Het
Vwf A G 6: 125,654,879 (GRCm39) E2525G probably benign Het
Other mutations in Cntn6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00547:Cntn6 APN 6 104,627,361 (GRCm39) missense probably damaging 0.99
IGL01331:Cntn6 APN 6 104,751,484 (GRCm39) missense probably damaging 1.00
IGL01619:Cntn6 APN 6 104,705,335 (GRCm39) splice site probably benign
IGL02028:Cntn6 APN 6 104,836,387 (GRCm39) missense probably damaging 0.99
IGL02557:Cntn6 APN 6 104,751,496 (GRCm39) missense probably damaging 1.00
IGL03000:Cntn6 APN 6 104,781,347 (GRCm39) missense probably damaging 1.00
IGL03367:Cntn6 APN 6 104,781,299 (GRCm39) missense probably damaging 1.00
IGL03383:Cntn6 APN 6 104,753,418 (GRCm39) splice site probably benign
PIT4366001:Cntn6 UTSW 6 104,809,498 (GRCm39) missense probably benign 0.05
R0490:Cntn6 UTSW 6 104,810,879 (GRCm39) missense possibly damaging 0.91
R0583:Cntn6 UTSW 6 104,753,275 (GRCm39) missense possibly damaging 0.79
R0636:Cntn6 UTSW 6 104,840,109 (GRCm39) missense probably benign 0.00
R0654:Cntn6 UTSW 6 104,753,389 (GRCm39) missense probably benign 0.00
R0960:Cntn6 UTSW 6 104,751,441 (GRCm39) missense probably benign 0.01
R1241:Cntn6 UTSW 6 104,809,470 (GRCm39) missense probably damaging 1.00
R1385:Cntn6 UTSW 6 104,838,861 (GRCm39) missense probably benign 0.07
R1401:Cntn6 UTSW 6 104,781,359 (GRCm39) missense possibly damaging 0.65
R1478:Cntn6 UTSW 6 104,753,389 (GRCm39) missense probably benign 0.00
R1542:Cntn6 UTSW 6 104,825,061 (GRCm39) missense probably damaging 1.00
R1593:Cntn6 UTSW 6 104,809,541 (GRCm39) missense possibly damaging 0.58
R1840:Cntn6 UTSW 6 104,751,441 (GRCm39) missense probably damaging 1.00
R2066:Cntn6 UTSW 6 104,838,783 (GRCm39) nonsense probably null
R2097:Cntn6 UTSW 6 104,838,910 (GRCm39) missense probably damaging 0.99
R2289:Cntn6 UTSW 6 104,545,989 (GRCm39) start gained probably benign
R2429:Cntn6 UTSW 6 104,627,526 (GRCm39) missense possibly damaging 0.96
R2967:Cntn6 UTSW 6 104,703,198 (GRCm39) missense probably benign 0.04
R4009:Cntn6 UTSW 6 104,810,783 (GRCm39) missense probably damaging 0.98
R4476:Cntn6 UTSW 6 104,749,522 (GRCm39) missense probably damaging 1.00
R4664:Cntn6 UTSW 6 104,705,245 (GRCm39) missense probably benign 0.20
R4666:Cntn6 UTSW 6 104,705,245 (GRCm39) missense probably benign 0.20
R4701:Cntn6 UTSW 6 104,781,321 (GRCm39) missense probably benign 0.01
R4780:Cntn6 UTSW 6 104,822,745 (GRCm39) missense probably damaging 1.00
R4854:Cntn6 UTSW 6 104,836,436 (GRCm39) missense possibly damaging 0.95
R4965:Cntn6 UTSW 6 104,751,435 (GRCm39) missense probably damaging 0.99
R5051:Cntn6 UTSW 6 104,749,558 (GRCm39) missense probably damaging 1.00
R5075:Cntn6 UTSW 6 104,809,991 (GRCm39) missense probably damaging 1.00
R5152:Cntn6 UTSW 6 104,546,074 (GRCm39) intron probably benign
R5291:Cntn6 UTSW 6 104,703,096 (GRCm39) missense probably damaging 1.00
R5388:Cntn6 UTSW 6 104,809,523 (GRCm39) missense probably damaging 1.00
R5852:Cntn6 UTSW 6 104,812,706 (GRCm39) missense probably damaging 0.97
R5937:Cntn6 UTSW 6 104,810,064 (GRCm39) missense possibly damaging 0.68
R5980:Cntn6 UTSW 6 104,825,093 (GRCm39) missense probably damaging 0.98
R6290:Cntn6 UTSW 6 104,744,851 (GRCm39) missense probably damaging 1.00
R6338:Cntn6 UTSW 6 104,703,100 (GRCm39) missense probably damaging 1.00
R6396:Cntn6 UTSW 6 104,627,461 (GRCm39) missense probably damaging 1.00
R6447:Cntn6 UTSW 6 104,836,409 (GRCm39) missense probably damaging 1.00
R6860:Cntn6 UTSW 6 104,838,907 (GRCm39) missense possibly damaging 0.95
R6871:Cntn6 UTSW 6 104,822,719 (GRCm39) frame shift probably null
R7012:Cntn6 UTSW 6 104,751,441 (GRCm39) missense probably benign 0.01
R7012:Cntn6 UTSW 6 104,703,223 (GRCm39) missense probably damaging 0.98
R7337:Cntn6 UTSW 6 104,627,491 (GRCm39) missense probably damaging 0.99
R7658:Cntn6 UTSW 6 104,627,444 (GRCm39) missense probably benign 0.29
R8133:Cntn6 UTSW 6 104,705,298 (GRCm39) missense probably benign 0.19
R8463:Cntn6 UTSW 6 104,749,580 (GRCm39) missense possibly damaging 0.64
R8909:Cntn6 UTSW 6 104,825,093 (GRCm39) missense probably benign 0.05
R9232:Cntn6 UTSW 6 104,815,781 (GRCm39) missense probably damaging 1.00
R9287:Cntn6 UTSW 6 104,809,471 (GRCm39) missense possibly damaging 0.89
R9454:Cntn6 UTSW 6 104,781,308 (GRCm39) missense possibly damaging 0.82
R9698:Cntn6 UTSW 6 104,810,044 (GRCm39) nonsense probably null
X0020:Cntn6 UTSW 6 104,744,845 (GRCm39) missense probably benign 0.00
Z1177:Cntn6 UTSW 6 104,809,545 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16