Incidental Mutation 'IGL03381:Cnksr1'
ID420709
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cnksr1
Ensembl Gene ENSMUSG00000028841
Gene Nameconnector enhancer of kinase suppressor of Ras 1
Synonyms
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.274) question?
Stock #IGL03381
Quality Score
Status
Chromosome4
Chromosomal Location134228041-134238399 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 134232171 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 384 (E384G)
Ref Sequence ENSEMBL: ENSMUSP00000030645 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030645] [ENSMUST00000055892] [ENSMUST00000105878] [ENSMUST00000169381]
Predicted Effect probably damaging
Transcript: ENSMUST00000030645
AA Change: E384G

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000030645
Gene: ENSMUSG00000028841
AA Change: E384G

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 probably benign
Transcript: ENSMUST00000055892
SMART Domains Protein: ENSMUSP00000051694
Gene: ENSMUSG00000048003

DomainStartEndE-ValueType
Pfam:Ion_trans 67 294 6.9e-34 PFAM
Pfam:PKD_channel 149 289 8.1e-8 PFAM
low complexity region 304 315 N/A INTRINSIC
coiled coil region 353 383 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000105878
SMART Domains Protein: ENSMUSP00000101504
Gene: ENSMUSG00000048003

DomainStartEndE-ValueType
transmembrane domain 64 86 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124181
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130984
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144504
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145998
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146283
Predicted Effect probably benign
Transcript: ENSMUST00000169381
SMART Domains Protein: ENSMUSP00000131094
Gene: ENSMUSG00000048003

DomainStartEndE-ValueType
Pfam:Ion_trans 56 209 2.4e-11 PFAM
low complexity region 231 242 N/A INTRINSIC
coiled coil region 280 310 N/A INTRINSIC
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921507P07Rik T C 6: 50,589,136 S120G probably damaging Het
A330017A19Rik T C 17: 46,889,886 probably benign Het
Abca16 T C 7: 120,527,818 F1243S probably benign Het
Adgrv1 A G 13: 81,517,967 V1990A probably damaging Het
Arhgdib G A 6: 136,932,316 T69I probably benign Het
Atf2 G A 2: 73,828,668 A214V probably benign Het
Ccr2 G A 9: 124,106,372 V230I probably benign Het
Epha5 T A 5: 84,331,332 D271V probably damaging Het
Fut2 C T 7: 45,650,769 G193E possibly damaging Het
Gm13083 T C 4: 143,617,055 probably benign Het
Gpr15 A G 16: 58,717,976 F250S probably damaging Het
Gzmf A T 14: 56,206,993 V41E probably benign Het
H2-T10 C T 17: 36,119,354 D232N probably benign Het
H2-T10 T A 17: 36,119,357 K231* probably null Het
Hsd3b6 A G 3: 98,807,812 V88A possibly damaging Het
Kit C T 5: 75,607,128 T57M probably benign Het
Klhl22 A G 16: 17,792,727 D614G possibly damaging Het
Matr3 T A 18: 35,579,025 probably benign Het
Mff A G 1: 82,741,940 Y213C probably damaging Het
Mrnip A G 11: 50,199,590 T194A probably benign Het
Msh6 T C 17: 87,985,109 F431L probably damaging Het
Mttp G A 3: 138,104,943 R637C probably damaging Het
Nlrc3 A G 16: 3,964,315 V410A probably benign Het
Olfr1225 A G 2: 89,171,179 I11T possibly damaging Het
Olfr1462 T A 19: 13,191,405 V246D probably damaging Het
Olfr69 T C 7: 103,767,837 I187V probably benign Het
Psip1 T C 4: 83,485,785 T2A probably benign Het
Rbm33 T C 5: 28,394,392 F921L unknown Het
Rhbdl2 T C 4: 123,822,817 V189A possibly damaging Het
Rpap2 C T 5: 107,620,201 P302S probably benign Het
Sec23ip T A 7: 128,750,305 V32D probably damaging Het
Sh3yl1 T C 12: 30,926,837 I47T possibly damaging Het
Tenm2 A C 11: 36,068,411 S1104A probably benign Het
Ufd1 A G 16: 18,825,757 D190G probably damaging Het
Ugt1a7c T C 1: 88,095,790 F224L probably benign Het
Utp20 G T 10: 88,822,005 F64L probably damaging Het
Vmn1r198 A G 13: 22,354,836 Y164C probably benign Het
Wdcp T A 12: 4,851,926 V594D probably damaging Het
Xirp2 A C 2: 67,514,226 E2270D probably benign Het
Other mutations in Cnksr1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00718:Cnksr1 APN 4 134234701 missense probably benign 0.39
IGL01311:Cnksr1 APN 4 134230466 missense probably damaging 1.00
IGL01872:Cnksr1 APN 4 134228964 missense probably benign 0.13
IGL02082:Cnksr1 APN 4 134236052 missense probably damaging 1.00
IGL02405:Cnksr1 APN 4 134236281 missense possibly damaging 0.88
IGL02669:Cnksr1 APN 4 134230463 missense probably damaging 0.98
IGL02948:Cnksr1 APN 4 134235106 splice site probably null
IGL03037:Cnksr1 APN 4 134235106 splice site probably null
R0855:Cnksr1 UTSW 4 134233066 splice site probably benign
R1958:Cnksr1 UTSW 4 134228416 missense probably benign 0.02
R2049:Cnksr1 UTSW 4 134229628 missense probably damaging 1.00
R2140:Cnksr1 UTSW 4 134229628 missense probably damaging 1.00
R2141:Cnksr1 UTSW 4 134229628 missense probably damaging 1.00
R2142:Cnksr1 UTSW 4 134229628 missense probably damaging 1.00
R2389:Cnksr1 UTSW 4 134233746 missense probably benign 0.03
R2495:Cnksr1 UTSW 4 134232162 missense probably benign 0.00
R4596:Cnksr1 UTSW 4 134233878 missense possibly damaging 0.90
R4668:Cnksr1 UTSW 4 134232971 intron probably benign
R4896:Cnksr1 UTSW 4 134229675 splice site probably null
R5367:Cnksr1 UTSW 4 134230214 missense possibly damaging 0.94
R5673:Cnksr1 UTSW 4 134235188 missense probably damaging 1.00
R5844:Cnksr1 UTSW 4 134228264 unclassified probably benign
R6153:Cnksr1 UTSW 4 134233893 missense probably damaging 1.00
Posted On2016-08-02