Incidental Mutation 'R2252:Sash1'
ID 241762
Institutional Source Beutler Lab
Gene Symbol Sash1
Ensembl Gene ENSMUSG00000015305
Gene Name SAM and SH3 domain containing 1
Synonyms A330076K04Rik, 2500002E12Rik, 1100001C18Rik
MMRRC Submission 040252-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2252 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 8597983-8761814 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 8605741 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 883 (M883K)
Ref Sequence ENSEMBL: ENSMUSP00000015449 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015449]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000015449
AA Change: M883K

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000015449
Gene: ENSMUSG00000015305
AA Change: M883K

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
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700129C05Rik G A 14: 59,380,061 (GRCm39) S79F probably damaging Het
Acaca G T 11: 84,262,358 (GRCm39) V1987L probably damaging Het
B3gnt3 A T 8: 72,145,462 (GRCm39) M302K probably damaging Het
BC048507 T C 13: 68,011,626 (GRCm39) M1T probably null Het
Bckdk C A 7: 127,504,590 (GRCm39) R105S probably damaging Het
Casp3 G T 8: 47,090,990 (GRCm39) W214L probably damaging Het
Cd180 A T 13: 102,842,906 (GRCm39) K651* probably null Het
Cdh15 T A 8: 123,584,161 (GRCm39) D87E probably damaging Het
Cldn24 G T 8: 48,275,363 (GRCm39) R62S probably benign Het
Cnot1 A G 8: 96,489,814 (GRCm39) V463A probably benign Het
Cspg4 C T 9: 56,805,330 (GRCm39) T2047I probably damaging Het
Cul2 A T 18: 3,399,876 (GRCm39) L3F probably damaging Het
Cwc27 A T 13: 104,768,237 (GRCm39) H419Q probably damaging Het
Dgkg A T 16: 22,441,010 (GRCm39) M1K probably null Het
Dock5 A T 14: 68,022,261 (GRCm39) L1171H probably damaging Het
Drc1 G T 5: 30,500,075 (GRCm39) V103F probably benign Het
Ep400 A T 5: 110,866,957 (GRCm39) N1062K unknown Het
Faap20 A C 4: 155,335,010 (GRCm39) E37A possibly damaging Het
Foxa2 A G 2: 147,886,086 (GRCm39) F243S probably damaging Het
Gzf1 T C 2: 148,525,856 (GRCm39) M109T probably damaging Het
Itch T A 2: 155,054,259 (GRCm39) M701K probably benign Het
Kpna1 T C 16: 35,841,939 (GRCm39) Y280H possibly damaging Het
L1td1 A G 4: 98,625,874 (GRCm39) probably null Het
Lrrc37a T C 11: 103,392,293 (GRCm39) Q1044R probably benign Het
Lrrc52 A T 1: 167,293,937 (GRCm39) I116N probably damaging Het
Mbd5 A G 2: 49,147,698 (GRCm39) E636G probably damaging Het
Mrpl40 T C 16: 18,694,125 (GRCm39) H29R probably benign Het
Nrip1 T C 16: 76,088,173 (GRCm39) Y1128C probably damaging Het
Or10d3 G T 9: 39,461,273 (GRCm39) A298D probably damaging Het
Or4g16 A G 2: 111,136,655 (GRCm39) Y35C probably damaging Het
Or5ak20 A G 2: 85,184,202 (GRCm39) S23P possibly damaging Het
Or8c8 A G 9: 38,165,126 (GRCm39) I135V probably benign Het
Pard3 A T 8: 128,337,080 (GRCm39) E1232V probably damaging Het
Pcif1 A G 2: 164,732,799 (GRCm39) E628G probably benign Het
Pcsk1 C A 13: 75,274,845 (GRCm39) A478D probably benign Het
Pkd1l2 T C 8: 117,784,177 (GRCm39) Y700C probably damaging Het
Pknox2 T C 9: 36,821,816 (GRCm39) N270D probably benign Het
Plcb2 T C 2: 118,554,246 (GRCm39) N69S probably benign Het
Reep1 T A 6: 71,733,426 (GRCm39) probably null Het
Secisbp2l C T 2: 125,582,657 (GRCm39) G933D possibly damaging Het
Septin4 A G 11: 87,480,637 (GRCm39) N405D possibly damaging Het
Serpinb3b T C 1: 107,083,208 (GRCm39) I231M possibly damaging Het
Serping1 A G 2: 84,600,195 (GRCm39) S322P probably damaging Het
Slc7a2 T C 8: 41,358,658 (GRCm39) Y334H probably benign Het
Spink5 G T 18: 44,153,891 (GRCm39) E1013* probably null Het
Thoc3 A T 13: 54,615,646 (GRCm39) N139K probably benign Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Tubb2b T A 13: 34,314,198 (GRCm39) I7F possibly damaging Het
Upf2 A G 2: 5,966,271 (GRCm39) D297G unknown Het
Vmn2r18 T C 5: 151,508,441 (GRCm39) I228V possibly damaging Het
Vmn2r98 A C 17: 19,300,698 (GRCm39) S567R probably benign Het
Vwa5a T C 9: 38,639,376 (GRCm39) I369T probably damaging Het
Yjefn3 A C 8: 70,342,095 (GRCm39) F42V probably damaging Het
Zfp472 A T 17: 33,195,257 (GRCm39) R69* probably null Het
Zfp536 T C 7: 37,178,814 (GRCm39) S200G probably benign Het
Zfp970 T A 2: 177,166,614 (GRCm39) probably null Het
Other mutations in Sash1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00987:Sash1 APN 10 8,627,177 (GRCm39) missense probably damaging 1.00
IGL01535:Sash1 APN 10 8,617,341 (GRCm39) missense probably damaging 1.00
IGL01537:Sash1 APN 10 8,605,422 (GRCm39) missense probably damaging 1.00
IGL01788:Sash1 APN 10 8,609,410 (GRCm39) missense probably benign 0.01
IGL01933:Sash1 APN 10 8,626,897 (GRCm39) missense probably damaging 0.99
IGL02126:Sash1 APN 10 8,615,229 (GRCm39) missense probably damaging 0.96
IGL02285:Sash1 APN 10 8,616,098 (GRCm39) missense probably damaging 0.99
IGL02400:Sash1 APN 10 8,609,411 (GRCm39) nonsense probably null
IGL02504:Sash1 APN 10 8,605,676 (GRCm39) missense probably benign 0.00
IGL02630:Sash1 APN 10 8,620,299 (GRCm39) missense probably benign 0.06
boyscout UTSW 10 8,618,186 (GRCm39) splice site probably null
cubscout UTSW 10 8,605,477 (GRCm39) missense probably benign 0.01
R0592:Sash1 UTSW 10 8,605,546 (GRCm39) missense probably benign 0.00
R0647:Sash1 UTSW 10 8,605,316 (GRCm39) missense probably damaging 0.99
R0656:Sash1 UTSW 10 8,626,901 (GRCm39) critical splice donor site probably null
R0830:Sash1 UTSW 10 8,605,673 (GRCm39) missense probably benign 0.01
R0919:Sash1 UTSW 10 8,605,843 (GRCm39) missense probably benign 0.01
R1470:Sash1 UTSW 10 8,665,357 (GRCm39) missense probably damaging 1.00
R1470:Sash1 UTSW 10 8,665,357 (GRCm39) missense probably damaging 1.00
R1606:Sash1 UTSW 10 8,605,721 (GRCm39) missense probably benign 0.00
R1707:Sash1 UTSW 10 8,606,141 (GRCm39) missense probably benign 0.00
R1922:Sash1 UTSW 10 8,603,672 (GRCm39) missense possibly damaging 0.62
R1940:Sash1 UTSW 10 8,605,696 (GRCm39) missense probably benign
R1964:Sash1 UTSW 10 8,605,477 (GRCm39) missense probably benign 0.01
R2013:Sash1 UTSW 10 8,605,177 (GRCm39) missense probably benign 0.03
R2014:Sash1 UTSW 10 8,605,177 (GRCm39) missense probably benign 0.03
R2015:Sash1 UTSW 10 8,605,177 (GRCm39) missense probably benign 0.03
R2074:Sash1 UTSW 10 8,632,461 (GRCm39) missense probably damaging 1.00
R2253:Sash1 UTSW 10 8,605,741 (GRCm39) missense probably benign 0.01
R2260:Sash1 UTSW 10 8,662,142 (GRCm39) nonsense probably null
R3085:Sash1 UTSW 10 8,618,186 (GRCm39) splice site probably null
R4024:Sash1 UTSW 10 8,605,681 (GRCm39) missense probably benign 0.00
R4039:Sash1 UTSW 10 8,605,391 (GRCm39) missense probably damaging 1.00
R4290:Sash1 UTSW 10 8,606,006 (GRCm39) missense possibly damaging 0.59
R4292:Sash1 UTSW 10 8,606,006 (GRCm39) missense possibly damaging 0.59
R4295:Sash1 UTSW 10 8,606,006 (GRCm39) missense possibly damaging 0.59
R4301:Sash1 UTSW 10 8,627,234 (GRCm39) missense probably benign 0.00
R4657:Sash1 UTSW 10 8,601,424 (GRCm39) missense probably damaging 1.00
R4669:Sash1 UTSW 10 8,606,149 (GRCm39) missense probably benign 0.00
R4719:Sash1 UTSW 10 8,605,477 (GRCm39) missense probably benign 0.01
R4745:Sash1 UTSW 10 8,605,672 (GRCm39) missense probably benign
R5197:Sash1 UTSW 10 8,615,989 (GRCm39) missense probably damaging 1.00
R5217:Sash1 UTSW 10 8,656,368 (GRCm39) missense possibly damaging 0.63
R5420:Sash1 UTSW 10 8,621,950 (GRCm39) missense probably damaging 1.00
R5591:Sash1 UTSW 10 8,601,482 (GRCm39) missense probably benign 0.36
R6505:Sash1 UTSW 10 8,605,291 (GRCm39) missense probably benign 0.21
R6679:Sash1 UTSW 10 8,615,949 (GRCm39) missense probably damaging 1.00
R6761:Sash1 UTSW 10 8,620,286 (GRCm39) missense probably damaging 0.99
R6885:Sash1 UTSW 10 8,659,985 (GRCm39) missense probably damaging 1.00
R6980:Sash1 UTSW 10 8,605,612 (GRCm39) missense probably benign 0.00
R7034:Sash1 UTSW 10 8,605,847 (GRCm39) nonsense probably null
R7036:Sash1 UTSW 10 8,605,847 (GRCm39) nonsense probably null
R7088:Sash1 UTSW 10 8,605,481 (GRCm39) nonsense probably null
R7289:Sash1 UTSW 10 8,605,960 (GRCm39) missense probably damaging 0.99
R7464:Sash1 UTSW 10 8,632,509 (GRCm39) missense possibly damaging 0.82
R7661:Sash1 UTSW 10 8,605,155 (GRCm39) missense probably benign 0.01
R7752:Sash1 UTSW 10 8,656,328 (GRCm39) nonsense probably null
R7856:Sash1 UTSW 10 8,605,472 (GRCm39) missense probably benign 0.00
R7901:Sash1 UTSW 10 8,656,328 (GRCm39) nonsense probably null
R8152:Sash1 UTSW 10 8,626,805 (GRCm39) missense possibly damaging 0.94
R8218:Sash1 UTSW 10 8,627,000 (GRCm39) missense probably damaging 0.99
R8317:Sash1 UTSW 10 8,605,150 (GRCm39) missense possibly damaging 0.76
R8358:Sash1 UTSW 10 8,605,745 (GRCm39) missense probably benign
R8503:Sash1 UTSW 10 8,656,277 (GRCm39) splice site probably benign
R8696:Sash1 UTSW 10 8,609,459 (GRCm39) missense probably damaging 1.00
R8703:Sash1 UTSW 10 8,605,595 (GRCm39) missense probably damaging 0.99
R8710:Sash1 UTSW 10 8,656,285 (GRCm39) missense possibly damaging 0.82
R8822:Sash1 UTSW 10 8,761,615 (GRCm39) start gained probably benign
R8826:Sash1 UTSW 10 8,637,869 (GRCm39) start codon destroyed probably null
R8891:Sash1 UTSW 10 8,603,734 (GRCm39) missense probably damaging 1.00
R8968:Sash1 UTSW 10 8,606,179 (GRCm39) missense probably benign 0.00
R8984:Sash1 UTSW 10 8,626,808 (GRCm39) missense possibly damaging 0.46
R9194:Sash1 UTSW 10 8,615,969 (GRCm39) missense probably damaging 0.99
R9248:Sash1 UTSW 10 8,617,296 (GRCm39) missense probably damaging 1.00
R9405:Sash1 UTSW 10 8,637,994 (GRCm39) start gained probably benign
R9408:Sash1 UTSW 10 8,637,994 (GRCm39) start gained probably benign
R9489:Sash1 UTSW 10 8,605,169 (GRCm39) missense probably benign 0.05
R9576:Sash1 UTSW 10 8,620,299 (GRCm39) missense probably benign 0.06
R9632:Sash1 UTSW 10 8,615,969 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTTCTGAGACCCTCAAGAGACGTC -3'
(R):5'- ATCTGTCGCAGCTGTGAAACC -3'

Sequencing Primer
(F):5'- AGAGACGTCCTTGTTAAGCC -3'
(R):5'- TGTGGAAAGTTGGCCCCGATC -3'
Posted On 2014-10-16