Incidental Mutation 'IGL01908:Clnk'
ID179733
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Clnk
Ensembl Gene ENSMUSG00000039315
Gene Namecytokine-dependent hematopoietic cell linker
SynonymsMIST
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.062) question?
Stock #IGL01908
Quality Score
Status
Chromosome5
Chromosomal Location38706462-38876812 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 38713142 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Tyrosine at position 358 (N358Y)
Ref Sequence ENSEMBL: ENSMUSP00000132779 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000169819] [ENSMUST00000171633]
Predicted Effect probably damaging
Transcript: ENSMUST00000169819
AA Change: N358Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000128473
Gene: ENSMUSG00000039315
AA Change: N358Y

DomainStartEndE-ValueType
low complexity region 158 188 N/A INTRINSIC
SH2 307 398 3.53e-19 SMART
low complexity region 414 427 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000171633
AA Change: N358Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000132779
Gene: ENSMUSG00000039315
AA Change: N358Y

DomainStartEndE-ValueType
low complexity region 158 188 N/A INTRINSIC
SH2 307 398 3.53e-19 SMART
low complexity region 414 427 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.] MIST is a member of the SLP76 family of adaptors (see LCP2, MIM 601603; BLNK, MIM 604515). MIST plays a role in the regulation of immunoreceptor signaling, including PLC-gamma (PLCG1; MIM 172420)-mediated B cell antigen receptor (BCR) signaling and FC-epsilon R1 (see FCER1A, MIM 147140)-mediated mast cell degranulation (Cao et al., 1999 [PubMed 10562326]; Goitsuka et al., 2000, 2001 [PubMed 10744659] [PubMed 11463797]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for a reporter allele display altered natural killer (NK) T cell physiology and enhanced NK cell cytolysis. Mice homozygous for knock-out allele display abnormal mast cell physiology as well as enhanced NK cell cytolysis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aoc1 G T 6: 48,906,756 R522L probably damaging Het
Asic5 G T 3: 82,006,570 G184* probably null Het
Bcr T A 10: 75,061,873 I283N possibly damaging Het
Bscl2 A G 19: 8,845,276 T134A probably damaging Het
C130026I21Rik A G 1: 85,254,186 probably benign Het
Clip1 A G 5: 123,623,207 probably benign Het
Crnkl1 A T 2: 145,928,155 V256E probably benign Het
Ctsm A T 13: 61,537,787 S270R probably benign Het
Dhx57 G T 17: 80,251,443 P1029H probably damaging Het
Dock3 A G 9: 106,906,662 M277T possibly damaging Het
Fbxo11 T C 17: 87,992,300 K874R probably benign Het
Fyco1 A T 9: 123,829,230 L627Q probably damaging Het
Ghr A T 15: 3,320,447 C416* probably null Het
Gm10717 C T 9: 3,025,616 S67L probably benign Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gm21738 G A 14: 19,416,979 S144L probably benign Het
Kif13b T C 14: 64,757,558 C920R probably damaging Het
Lrp1b T C 2: 40,702,804 T3768A probably benign Het
Luzp2 T G 7: 55,172,196 S154A probably damaging Het
Olfr656 A T 7: 104,617,699 T7S probably damaging Het
Pisd C A 5: 32,739,132 probably null Het
Rad51ap2 T A 12: 11,458,591 V838D probably damaging Het
Sbf1 A T 15: 89,302,726 D816E probably damaging Het
Stim1 T C 7: 102,435,650 V603A probably benign Het
Tinagl1 G T 4: 130,167,430 T309K probably damaging Het
Trappc11 G A 8: 47,503,994 A799V probably damaging Het
Vmn1r113 T C 7: 20,788,018 L245P probably damaging Het
Vmn1r40 T G 6: 89,714,309 V36G probably damaging Het
Vmn1r40 C T 6: 89,714,303 A34V probably benign Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Other mutations in Clnk
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01328:Clnk APN 5 38784528 missense possibly damaging 0.95
IGL01348:Clnk APN 5 38713207 missense probably damaging 1.00
IGL01901:Clnk APN 5 38794978 missense probably damaging 1.00
IGL02437:Clnk APN 5 38774566 critical splice donor site probably null
IGL02745:Clnk APN 5 38736319 missense probably benign 0.00
R0138:Clnk UTSW 5 38774608 splice site probably benign
R0196:Clnk UTSW 5 38769939 missense probably damaging 0.97
R1522:Clnk UTSW 5 38794966 missense probably damaging 1.00
R1958:Clnk UTSW 5 38706626 missense possibly damaging 0.96
R2036:Clnk UTSW 5 38752800 splice site probably null
R2238:Clnk UTSW 5 38764351 splice site probably benign
R3788:Clnk UTSW 5 38714998 missense probably damaging 1.00
R3931:Clnk UTSW 5 38768069 missense probably benign
R4159:Clnk UTSW 5 38741795 intron probably benign
R4182:Clnk UTSW 5 38747850 intron probably benign
R4686:Clnk UTSW 5 38741837 intron probably benign
R4751:Clnk UTSW 5 38720913 missense probably benign 0.06
R4842:Clnk UTSW 5 38713069 splice site probably null
R5811:Clnk UTSW 5 38713147 missense probably damaging 1.00
R6236:Clnk UTSW 5 38713199 missense probably benign 0.41
R7157:Clnk UTSW 5 38769891 missense possibly damaging 0.63
R7615:Clnk UTSW 5 38706698 missense probably damaging 1.00
R7618:Clnk UTSW 5 38736355 missense probably benign 0.06
R7762:Clnk UTSW 5 38768141 missense probably benign 0.24
R7768:Clnk UTSW 5 38768158 missense probably damaging 1.00
R7823:Clnk UTSW 5 38750351 missense probably benign 0.00
R8158:Clnk UTSW 5 38794911 critical splice donor site probably null
R8423:Clnk UTSW 5 38794910 critical splice donor site probably null
Posted On2014-05-07