Incidental Mutation 'IGL02285:Sash1'
ID289949
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sash1
Ensembl Gene ENSMUSG00000015305
Gene NameSAM and SH3 domain containing 1
Synonyms
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02285
Quality Score
Status
Chromosome10
Chromosomal Location8722219-8886070 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 8740334 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Lysine at position 588 (M588K)
Ref Sequence ENSEMBL: ENSMUSP00000015449 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015449] [ENSMUST00000212869]
Predicted Effect probably damaging
Transcript: ENSMUST00000015449
AA Change: M588K

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000015449
Gene: ENSMUSG00000015305
AA Change: M588K

DomainStartEndE-ValueType
low complexity region 2 21 N/A INTRINSIC
coiled coil region 185 212 N/A INTRINSIC
low complexity region 323 336 N/A INTRINSIC
Pfam:SLY 394 548 1.2e-46 PFAM
SH3 550 607 1.16e-3 SMART
SAM 623 690 1.83e-11 SMART
low complexity region 1008 1021 N/A INTRINSIC
SAM 1157 1224 3.6e-10 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000212869
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 scaffold protein involved in the TLR4 signaling pathway that may stimulate cytokine production and endothelial cell migration in response to invading pathogens. The encoded protein has also been described as a potential tumor suppressor that may negatively regulate proliferation, apoptosis, and invasion of cancer cells, and reduced expression of this gene has been observed in multiple human cancers. Mutations in this gene may be associated with abnormal skin pigmentation in human patients. [provided by RefSeq, Oct 2016]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ago3 A G 4: 126,350,877 V672A possibly damaging Het
Arhgef28 A T 13: 98,051,028 V253D possibly damaging Het
Atg3 G A 16: 45,178,317 probably benign Het
Camsap1 T C 2: 25,929,802 D1557G probably damaging Het
Cdh7 A G 1: 110,138,191 T732A probably damaging Het
Col4a3bp A G 13: 96,616,482 H348R probably benign Het
Cyp3a13 T A 5: 137,909,967 I207F probably benign Het
Dock1 T G 7: 135,081,920 probably null Het
Drc7 A T 8: 95,071,233 probably benign Het
Drosha C A 15: 12,833,864 P18H unknown Het
Fbxl5 A G 5: 43,765,348 S243P possibly damaging Het
Filip1 A G 9: 79,820,126 C404R probably damaging Het
Gm1840 C T 8: 5,640,373 noncoding transcript Het
Gm5745 G A 9: 73,175,498 noncoding transcript Het
Gm7808 T G 9: 19,928,051 probably benign Het
Hcn3 T C 3: 89,152,812 D175G probably damaging Het
Igkv1-117 A T 6: 68,121,535 M23L probably benign Het
Kif26a A G 12: 112,157,507 D182G probably damaging Het
Lmbr1 A G 5: 29,254,235 probably benign Het
Lypd4 T A 7: 24,865,440 Q91L probably damaging Het
Ncoa5 C T 2: 165,002,840 A37T probably damaging Het
Olfr600 G A 7: 103,346,038 R297* probably null Het
Olfr657 A G 7: 104,635,725 E17G probably benign Het
Olfr829 T A 9: 18,856,990 C122S possibly damaging Het
Ppp1r18 A G 17: 35,867,256 K8E probably damaging Het
Ppp3ca A G 3: 136,928,626 probably benign Het
Ptpn12 T A 5: 21,055,713 Q12L probably benign Het
Rpgrip1l A G 8: 91,232,907 F1122L possibly damaging Het
Rps15 G T 10: 80,293,762 M43I probably benign Het
Rrp15 T C 1: 186,721,395 probably benign Het
Slc12a7 A G 13: 73,795,595 probably benign Het
Slc25a13 A G 6: 6,042,643 V587A possibly damaging Het
Sugct T C 13: 17,672,596 D34G possibly damaging Het
Tdpoz2 T A 3: 93,652,291 I125F probably damaging Het
Trim52 T A 14: 106,107,268 L120Q probably damaging Het
Vmn1r85 T C 7: 13,084,784 I144M probably damaging Het
Vmn2r107 T C 17: 20,375,561 F792S probably damaging Het
Vsnl1 A G 12: 11,386,877 F34L probably damaging Het
Other mutations in Sash1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00987:Sash1 APN 10 8751413 missense probably damaging 1.00
IGL01535:Sash1 APN 10 8741577 missense probably damaging 1.00
IGL01537:Sash1 APN 10 8729658 missense probably damaging 1.00
IGL01788:Sash1 APN 10 8733646 missense probably benign 0.01
IGL01933:Sash1 APN 10 8751133 missense probably damaging 0.99
IGL02126:Sash1 APN 10 8739465 missense probably damaging 0.96
IGL02400:Sash1 APN 10 8733647 nonsense probably null
IGL02504:Sash1 APN 10 8729912 missense probably benign 0.00
IGL02630:Sash1 APN 10 8744535 missense probably benign 0.06
R0592:Sash1 UTSW 10 8729782 missense probably benign 0.00
R0647:Sash1 UTSW 10 8729552 missense probably damaging 0.99
R0656:Sash1 UTSW 10 8751137 critical splice donor site probably null
R0830:Sash1 UTSW 10 8729909 missense probably benign 0.01
R0919:Sash1 UTSW 10 8730079 missense probably benign 0.01
R1470:Sash1 UTSW 10 8789593 missense probably damaging 1.00
R1470:Sash1 UTSW 10 8789593 missense probably damaging 1.00
R1606:Sash1 UTSW 10 8729957 missense probably benign 0.00
R1707:Sash1 UTSW 10 8730377 missense probably benign 0.00
R1922:Sash1 UTSW 10 8727908 missense possibly damaging 0.62
R1940:Sash1 UTSW 10 8729932 missense probably benign
R1964:Sash1 UTSW 10 8729713 missense probably benign 0.01
R2013:Sash1 UTSW 10 8729413 missense probably benign 0.03
R2014:Sash1 UTSW 10 8729413 missense probably benign 0.03
R2015:Sash1 UTSW 10 8729413 missense probably benign 0.03
R2074:Sash1 UTSW 10 8756697 missense probably damaging 1.00
R2252:Sash1 UTSW 10 8729977 missense probably benign 0.01
R2253:Sash1 UTSW 10 8729977 missense probably benign 0.01
R2260:Sash1 UTSW 10 8786378 nonsense probably null
R3085:Sash1 UTSW 10 8742422 splice site probably null
R4024:Sash1 UTSW 10 8729917 missense probably benign 0.00
R4039:Sash1 UTSW 10 8729627 missense probably damaging 1.00
R4290:Sash1 UTSW 10 8730242 missense possibly damaging 0.59
R4292:Sash1 UTSW 10 8730242 missense possibly damaging 0.59
R4295:Sash1 UTSW 10 8730242 missense possibly damaging 0.59
R4301:Sash1 UTSW 10 8751470 missense probably benign 0.00
R4657:Sash1 UTSW 10 8725660 missense probably damaging 1.00
R4669:Sash1 UTSW 10 8730385 missense probably benign 0.00
R4719:Sash1 UTSW 10 8729713 missense probably benign 0.01
R4745:Sash1 UTSW 10 8729908 missense probably benign
R5197:Sash1 UTSW 10 8740225 missense probably damaging 1.00
R5217:Sash1 UTSW 10 8780604 missense possibly damaging 0.63
R5420:Sash1 UTSW 10 8746186 missense probably damaging 1.00
R5591:Sash1 UTSW 10 8725718 missense probably benign 0.36
R6505:Sash1 UTSW 10 8729527 missense probably benign 0.21
R6679:Sash1 UTSW 10 8740185 missense probably damaging 1.00
R6761:Sash1 UTSW 10 8744522 missense probably damaging 0.99
R6885:Sash1 UTSW 10 8784221 missense probably damaging 1.00
R6980:Sash1 UTSW 10 8729848 missense probably benign 0.00
R7034:Sash1 UTSW 10 8730083 nonsense probably null
R7036:Sash1 UTSW 10 8730083 nonsense probably null
R7088:Sash1 UTSW 10 8729717 nonsense probably null
R7289:Sash1 UTSW 10 8730196 missense probably damaging 0.99
R7464:Sash1 UTSW 10 8756745 missense possibly damaging 0.82
R7661:Sash1 UTSW 10 8729391 missense probably benign 0.01
R7752:Sash1 UTSW 10 8780564 nonsense probably null
R7856:Sash1 UTSW 10 8729708 missense probably benign 0.00
R7901:Sash1 UTSW 10 8780564 nonsense probably null
R7939:Sash1 UTSW 10 8729708 missense probably benign 0.00
R7984:Sash1 UTSW 10 8780564 nonsense probably null
Posted On2015-04-16