Incidental Mutation 'IGL02948:Cnksr1'
ID 364866
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cnksr1
Ensembl Gene ENSMUSG00000028841
Gene Name connector enhancer of kinase suppressor of Ras 1
Synonyms
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.287) question?
Stock # IGL02948
Quality Score
Status
Chromosome 4
Chromosomal Location 133955352-133965710 bp(-) (GRCm39)
Type of Mutation splice site (3 bp from exon)
DNA Base Change (assembly) T to C at 133962417 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000030645 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030645]
AlphaFold A2A9K7
Predicted Effect probably null
Transcript: ENSMUST00000030645
SMART Domains Protein: ENSMUSP00000030645
Gene: ENSMUSG00000028841

DomainStartEndE-ValueType
SAM 4 70 1.44e-9 SMART
Pfam:CRIC_ras_sig 78 162 4.2e-26 PFAM
PDZ 206 276 1.48e-3 SMART
low complexity region 285 303 N/A INTRINSIC
low complexity region 333 347 N/A INTRINSIC
PH 388 488 4.38e-19 SMART
coiled coil region 596 624 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124181
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144504
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145998
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146283
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein containing several motifs involved in protein-protein interaction, including PDZ, PH (Pleckstrin homology), and SAM (sterile alpha motif) domains. The encoded protein acts as a scaffold component for receptor tyrosine kinase signaling and may mediate crosstalk between different signaling pathways. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass A T 6: 23,094,318 (GRCm39) probably benign Het
Ano3 A T 2: 110,527,363 (GRCm39) probably benign Het
Arpp21 T C 9: 112,005,268 (GRCm39) Y193C probably damaging Het
Atm G A 9: 53,364,740 (GRCm39) probably benign Het
Ceacam13 C T 7: 17,744,988 (GRCm39) probably benign Het
Cenpi T A X: 133,250,017 (GRCm39) C599S possibly damaging Het
Clec7a A C 6: 129,442,441 (GRCm39) D195E possibly damaging Het
Cntn1 A G 15: 92,143,891 (GRCm39) T285A probably benign Het
Dusp4 G T 8: 35,285,726 (GRCm39) G329V probably damaging Het
Emb C A 13: 117,409,602 (GRCm39) probably benign Het
Esyt1 A T 10: 128,355,040 (GRCm39) S496T probably damaging Het
Evpl T C 11: 116,112,648 (GRCm39) T1681A probably damaging Het
Fam131b A C 6: 42,297,926 (GRCm39) probably benign Het
Fam162b T C 10: 51,463,392 (GRCm39) M92V probably damaging Het
Fbxw2 T C 2: 34,695,723 (GRCm39) *455W probably null Het
Gm12886 A G 4: 121,280,234 (GRCm39) L14P unknown Het
Gpc4 A T X: 51,163,178 (GRCm39) V235E probably damaging Het
Gss A G 2: 155,419,541 (GRCm39) L170P probably damaging Het
Hbs1l C T 10: 21,217,610 (GRCm39) probably benign Het
Hhatl T C 9: 121,618,857 (GRCm39) M92V probably benign Het
Hhla1 A T 15: 65,814,542 (GRCm39) L194H probably damaging Het
Hivep2 C A 10: 14,004,757 (GRCm39) R452S probably benign Het
Homer2 C A 7: 81,299,393 (GRCm39) W24L probably damaging Het
Lhcgr A T 17: 89,050,050 (GRCm39) L492H probably damaging Het
Lrba C A 3: 86,217,691 (GRCm39) probably null Het
Lrp2 G T 2: 69,318,181 (GRCm39) P2090Q probably damaging Het
Lyl1 C T 8: 85,429,300 (GRCm39) P3L possibly damaging Het
Madd T A 2: 90,973,172 (GRCm39) M1497L probably benign Het
Naprt C T 15: 75,764,206 (GRCm39) R336Q probably damaging Het
Nars1 A G 18: 64,638,266 (GRCm39) C266R possibly damaging Het
Or10v1 T A 19: 11,874,145 (GRCm39) Y253* probably null Het
Or5k8 T A 16: 58,644,451 (GRCm39) Q207L probably benign Het
Pard3 A T 8: 128,032,975 (GRCm39) T190S probably benign Het
Pstpip2 A G 18: 77,942,507 (GRCm39) N86S probably benign Het
Ptgfrn T C 3: 100,980,135 (GRCm39) T402A probably benign Het
Rnf130 T C 11: 49,943,598 (GRCm39) probably benign Het
Ropn1l T C 15: 31,451,325 (GRCm39) D53G possibly damaging Het
Rps6ka2 G A 17: 7,521,849 (GRCm39) probably null Het
Rtn2 T C 7: 19,027,036 (GRCm39) S17P probably damaging Het
Shank2 T C 7: 143,963,373 (GRCm39) V327A probably benign Het
Slc22a16 T G 10: 40,449,958 (GRCm39) Y131* probably null Het
Slc28a2 T A 2: 122,288,458 (GRCm39) M583K possibly damaging Het
Slco1a6 G T 6: 142,078,961 (GRCm39) probably null Het
Slfn8 T A 11: 82,894,078 (GRCm39) I854F probably damaging Het
Strip1 T C 3: 107,520,582 (GRCm39) R823G probably benign Het
Stxbp2 A T 8: 3,691,971 (GRCm39) I538F probably benign Het
Tcl1b5 C T 12: 105,145,273 (GRCm39) T79M probably benign Het
Tmem104 G T 11: 115,088,122 (GRCm39) A36S probably damaging Het
Trim55 T A 3: 19,725,116 (GRCm39) L211Q probably damaging Het
Trim80 T C 11: 115,332,419 (GRCm39) W204R possibly damaging Het
Ttbk1 G A 17: 46,757,256 (GRCm39) T1126I probably benign Het
Ubqln2 C T X: 152,282,692 (GRCm39) Q415* probably null Het
Unc13a C T 8: 72,103,193 (GRCm39) R931H possibly damaging Het
Utp4 T A 8: 107,621,273 (GRCm39) S17T probably benign Het
Other mutations in Cnksr1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00718:Cnksr1 APN 4 133,962,012 (GRCm39) missense probably benign 0.39
IGL01311:Cnksr1 APN 4 133,957,777 (GRCm39) missense probably damaging 1.00
IGL01872:Cnksr1 APN 4 133,956,275 (GRCm39) missense probably benign 0.13
IGL02082:Cnksr1 APN 4 133,963,363 (GRCm39) missense probably damaging 1.00
IGL02405:Cnksr1 APN 4 133,963,592 (GRCm39) missense possibly damaging 0.88
IGL02669:Cnksr1 APN 4 133,957,774 (GRCm39) missense probably damaging 0.98
IGL03037:Cnksr1 APN 4 133,962,417 (GRCm39) splice site probably null
IGL03381:Cnksr1 APN 4 133,959,482 (GRCm39) missense probably damaging 0.99
R0855:Cnksr1 UTSW 4 133,960,377 (GRCm39) splice site probably benign
R1958:Cnksr1 UTSW 4 133,955,727 (GRCm39) missense probably benign 0.02
R2049:Cnksr1 UTSW 4 133,956,939 (GRCm39) missense probably damaging 1.00
R2140:Cnksr1 UTSW 4 133,956,939 (GRCm39) missense probably damaging 1.00
R2141:Cnksr1 UTSW 4 133,956,939 (GRCm39) missense probably damaging 1.00
R2142:Cnksr1 UTSW 4 133,956,939 (GRCm39) missense probably damaging 1.00
R2389:Cnksr1 UTSW 4 133,961,057 (GRCm39) missense probably benign 0.03
R2495:Cnksr1 UTSW 4 133,959,473 (GRCm39) missense probably benign 0.00
R4596:Cnksr1 UTSW 4 133,961,189 (GRCm39) missense possibly damaging 0.90
R4668:Cnksr1 UTSW 4 133,960,282 (GRCm39) intron probably benign
R4896:Cnksr1 UTSW 4 133,956,986 (GRCm39) splice site probably null
R5367:Cnksr1 UTSW 4 133,957,525 (GRCm39) missense possibly damaging 0.94
R5673:Cnksr1 UTSW 4 133,962,499 (GRCm39) missense probably damaging 1.00
R5844:Cnksr1 UTSW 4 133,955,575 (GRCm39) unclassified probably benign
R6153:Cnksr1 UTSW 4 133,961,204 (GRCm39) missense probably damaging 1.00
R7207:Cnksr1 UTSW 4 133,962,434 (GRCm39) missense possibly damaging 0.75
R7261:Cnksr1 UTSW 4 133,963,084 (GRCm39) splice site probably null
R7978:Cnksr1 UTSW 4 133,963,342 (GRCm39) missense probably damaging 1.00
R8310:Cnksr1 UTSW 4 133,956,730 (GRCm39) missense probably damaging 1.00
R8855:Cnksr1 UTSW 4 133,959,494 (GRCm39) missense probably damaging 1.00
R9019:Cnksr1 UTSW 4 133,959,365 (GRCm39) missense probably damaging 1.00
R9028:Cnksr1 UTSW 4 133,960,608 (GRCm39) missense possibly damaging 0.48
R9102:Cnksr1 UTSW 4 133,956,323 (GRCm39) missense probably damaging 1.00
R9310:Cnksr1 UTSW 4 133,956,330 (GRCm39) missense probably damaging 1.00
R9344:Cnksr1 UTSW 4 133,963,508 (GRCm39) missense probably damaging 1.00
R9435:Cnksr1 UTSW 4 133,961,885 (GRCm39) missense possibly damaging 0.94
Z1176:Cnksr1 UTSW 4 133,959,446 (GRCm39) missense probably damaging 1.00
Z1177:Cnksr1 UTSW 4 133,959,461 (GRCm39) missense probably damaging 0.99
Posted On 2015-12-18