Incidental Mutation 'IGL01348:Clnk'
ID75167
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: 0.060) question?
Stock #IGL01348
Quality Score
Status
Chromosome5
Chromosomal Location38706462-38876812 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 38713207 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 336 (D336G)
Ref Sequence ENSEMBL: ENSMUSP00000132779 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000169819] [ENSMUST00000171633]
Predicted Effect probably damaging
Transcript: ENSMUST00000169819
AA Change: D336G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000128473
Gene: ENSMUSG00000039315
AA Change: D336G

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: D336G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000132779
Gene: ENSMUSG00000039315
AA Change: D336G

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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700093K21Rik T C 11: 23,517,213 E140G probably null Het
8030462N17Rik A G 18: 77,673,917 I233T possibly damaging Het
Adgrl3 A G 5: 81,726,723 T956A probably damaging Het
Aff4 G A 11: 53,402,500 S772N probably benign Het
Atad5 A G 11: 80,095,564 I492M probably benign Het
Atf4 T C 15: 80,256,527 probably benign Het
Atrip A G 9: 109,069,295 S219P probably damaging Het
Axl G A 7: 25,763,309 R656W probably damaging Het
B3gnt3 T A 8: 71,693,004 Q240L possibly damaging Het
Baz2b A G 2: 59,933,687 V915A possibly damaging Het
C330027C09Rik A G 16: 49,013,188 I551V probably damaging Het
Cacna1s T C 1: 136,075,152 V329A possibly damaging Het
Celf3 C A 3: 94,488,228 Q388K possibly damaging Het
Ciita T C 16: 10,510,727 S292P probably damaging Het
Clec18a G A 8: 111,071,613 A423V probably damaging Het
Csmd1 T G 8: 15,910,596 H3273P probably damaging Het
Cyp3a11 A T 5: 145,869,007 V157E possibly damaging Het
Dcp1b T C 6: 119,183,718 I87T probably damaging Het
Ell3 A G 2: 121,441,796 S66P probably damaging Het
Ercc4 T C 16: 13,132,934 F631L probably damaging Het
Etl4 T A 2: 20,806,973 V1289D probably damaging Het
Gm16372 T C 12: 24,493,607 probably benign Het
Gm4553 C T 7: 142,165,172 C173Y unknown Het
Gm8989 T A 7: 106,329,835 H285L unknown Het
Gykl1 A T 18: 52,694,736 I339F possibly damaging Het
H60b A C 10: 22,286,179 N101T possibly damaging Het
Inpp4a C T 1: 37,388,905 T407I probably damaging Het
Itga11 A G 9: 62,744,579 N331S possibly damaging Het
Kbtbd6 T A 14: 79,453,343 C430S probably damaging Het
Mfsd4a T C 1: 132,067,826 S1G probably null Het
Mybpc2 C A 7: 44,515,928 M372I probably benign Het
Myh10 A T 11: 68,811,803 T1768S probably benign Het
Myh8 A G 11: 67,297,780 K1063E probably damaging Het
Nat8f5 A T 6: 85,817,880 F33I probably damaging Het
Nbeal2 T G 9: 110,629,146 N2119T probably damaging Het
Nek11 C T 9: 105,392,913 G37S probably damaging Het
Npc1l1 T C 11: 6,227,974 N479D probably damaging Het
Nup160 A G 2: 90,700,428 T477A probably benign Het
Olfr121 A T 17: 37,752,286 H144L probably benign Het
Olfr186 T A 16: 59,027,794 T38S probably damaging Het
Pcgf2 A G 11: 97,690,240 V259A probably benign Het
Pmm1 A G 15: 81,952,018 V131A probably damaging Het
Polr3a A T 14: 24,461,763 D908E probably damaging Het
Psg29 A C 7: 17,210,673 R369S probably benign Het
Ptprq T A 10: 107,711,904 D211V probably damaging Het
Rdh9 A G 10: 127,776,792 N103S probably benign Het
Riok3 T C 18: 12,152,963 probably benign Het
Serpinb1b A T 13: 33,091,415 Q174H probably benign Het
Sgip1 G T 4: 102,915,156 probably null Het
Sgpp1 A T 12: 75,734,993 Y191N probably damaging Het
Slc12a1 A G 2: 125,194,131 N641S probably damaging Het
Slc5a4b T C 10: 76,070,588 N399S probably damaging Het
Snx16 C T 3: 10,419,159 A335T probably damaging Het
Sos2 C T 12: 69,618,092 R355H probably damaging Het
Szt2 A G 4: 118,393,624 probably benign Het
Tbcd T A 11: 121,497,076 D344E probably benign Het
Tek C A 4: 94,859,658 Q988K probably damaging Het
Tgm6 A G 2: 130,137,379 D143G probably damaging Het
Tpx2 A G 2: 152,893,591 K713R probably damaging Het
Trappc9 T A 15: 72,937,009 E556V possibly damaging Het
Trpm6 A T 19: 18,877,651 K1891N probably damaging Het
Trpv1 G A 11: 73,238,252 probably null Het
Usp37 T C 1: 74,461,702 S567G probably damaging Het
Zfp773 A T 7: 7,135,315 V107D possibly damaging Het
Other mutations in Clnk
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01328:Clnk APN 5 38784528 missense possibly damaging 0.95
IGL01901:Clnk APN 5 38794978 missense probably damaging 1.00
IGL01908:Clnk APN 5 38713142 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 On2013-10-07