Incidental Mutation 'R6980:Sash1'
ID 543781
Institutional Source Beutler Lab
Gene Symbol Sash1
Ensembl Gene ENSMUSG00000015305
Gene Name SAM and SH3 domain containing 1
Synonyms A330076K04Rik, 2500002E12Rik, 1100001C18Rik
MMRRC Submission 045088-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6980 (G1)
Quality Score 225.009
Status Not validated
Chromosome 10
Chromosomal Location 8597983-8761814 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 8605612 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Arginine at position 926 (Q926R)
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: Q926R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000015449
Gene: ENSMUSG00000015305
AA Change: Q926R

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: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
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: 88 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca2 C A 2: 25,330,878 (GRCm39) R1189S possibly damaging Het
Abcf2 T C 5: 24,770,970 (GRCm39) Q594R probably benign Het
Abhd18 G A 3: 40,888,215 (GRCm39) S353N probably benign Het
Adrb1 G T 19: 56,712,046 (GRCm39) A415S probably benign Het
Art2b T C 7: 101,229,680 (GRCm39) N73S probably benign Het
BC028528 CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT 3: 95,795,448 (GRCm39) probably benign Het
BC028528 CACTGGTTCTGTGGT CACTGGTTCTGTGGTTACTGGTTCTGTGGT 3: 95,795,480 (GRCm39) probably benign Het
BC028528 ACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTC ACTGGTTCTGTGGTCTCTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTC 3: 95,795,451 (GRCm39) probably benign Het
Cacna1a A G 8: 85,338,914 (GRCm39) M1753V possibly damaging Het
Cbx8 A T 11: 118,930,287 (GRCm39) I102N possibly damaging Het
Ccdc178 T A 18: 22,238,620 (GRCm39) E332D probably benign Het
Cdhr17 T A 5: 17,031,944 (GRCm39) V533D possibly damaging Het
Cfap74 G A 4: 155,550,809 (GRCm39) probably benign Het
Chat A T 14: 32,146,111 (GRCm39) M354K probably benign Het
Cmas A G 6: 142,702,526 (GRCm39) T10A probably damaging Het
Cyb561d1 A T 3: 108,107,475 (GRCm39) L51H probably benign Het
D030056L22Rik A T 19: 18,694,629 (GRCm39) N128I probably damaging Het
D130043K22Rik G T 13: 25,048,764 (GRCm39) A423S probably damaging Het
Dnah14 T C 1: 181,475,795 (GRCm39) I1349T probably benign Het
Dnajb3 T G 1: 88,132,736 (GRCm39) D222A probably damaging Het
Dtx1 T C 5: 120,819,422 (GRCm39) E592G probably damaging Het
Dzank1 C T 2: 144,332,056 (GRCm39) G427R possibly damaging Het
E130308A19Rik A C 4: 59,719,991 (GRCm39) K508Q probably damaging Het
Eif4e1b T A 13: 54,931,916 (GRCm39) probably null Het
Ell2 A G 13: 75,904,495 (GRCm39) M159V probably null Het
Eml4 G A 17: 83,758,446 (GRCm39) V377I probably benign Het
Fryl A T 5: 73,207,773 (GRCm39) S2466T probably benign Het
Gfpt1 C A 6: 87,054,071 (GRCm39) T426K probably damaging Het
Gm49355 T C 14: 12,307,173 (GRCm38) probably benign Het
Gm5114 T C 7: 39,058,624 (GRCm39) I332V probably benign Het
Gpr15 T A 16: 58,539,105 (GRCm39) probably benign Het
Gpr179 T C 11: 97,225,684 (GRCm39) E2157G probably benign Het
Gramd4 A G 15: 86,016,170 (GRCm39) N482S probably benign Het
Hfm1 A T 5: 107,028,343 (GRCm39) I829K probably benign Het
Hydin A T 8: 111,139,916 (GRCm39) E728D possibly damaging Het
Ifngr2 T A 16: 91,356,895 (GRCm39) V143E probably damaging Het
Ift172 T C 5: 31,414,730 (GRCm39) D1390G probably benign Het
Kdf1 A T 4: 133,256,138 (GRCm39) D285V probably damaging Het
Mast4 C T 13: 102,941,155 (GRCm39) V301I probably damaging Het
Mdn1 G A 4: 32,726,942 (GRCm39) probably null Het
Megf11 A G 9: 64,613,132 (GRCm39) E1016G probably damaging Het
Mixl1 G A 1: 180,524,453 (GRCm39) A42V possibly damaging Het
Mpp2 A G 11: 101,950,154 (GRCm39) W567R probably damaging Het
Mrgpra6 A G 7: 46,838,697 (GRCm39) L136P probably damaging Het
Mroh7 T A 4: 106,557,434 (GRCm39) I759L probably benign Het
Nrxn2 A G 19: 6,500,609 (GRCm39) D277G probably benign Het
Nup210l A T 3: 90,027,234 (GRCm39) K205N probably benign Het
Or4g17 A G 2: 111,209,620 (GRCm39) I92V possibly damaging Het
Or4p4b-ps1 A G 2: 88,453,939 (GRCm39) *97W probably null Het
Or52e19b T C 7: 103,032,303 (GRCm39) E302G probably benign Het
Or5al6 A T 2: 85,976,681 (GRCm39) Y132* probably null Het
Oxnad1 C T 14: 31,807,576 (GRCm39) probably benign Het
Pamr1 C T 2: 102,472,549 (GRCm39) T616I probably benign Het
Pcdhgb5 C T 18: 37,866,592 (GRCm39) H796Y possibly damaging Het
Pdlim7 G T 13: 55,656,041 (GRCm39) D126E probably benign Het
Pfdn2 C T 1: 171,185,465 (GRCm39) probably benign Het
Piezo2 T A 18: 63,216,032 (GRCm39) probably null Het
Pms2 A T 5: 143,848,842 (GRCm39) I43L probably benign Het
Prex2 T A 1: 11,232,487 (GRCm39) S851R probably benign Het
Ptpn4 T A 1: 119,671,151 (GRCm39) E202D possibly damaging Het
Rnf40 T A 7: 127,193,849 (GRCm39) V455E probably damaging Het
Rp1l1 A G 14: 64,266,169 (GRCm39) N585S probably benign Het
Rrp12 A G 19: 41,878,582 (GRCm39) S188P probably damaging Het
Rsbn1l T A 5: 21,101,482 (GRCm39) H686L probably benign Het
Runx2 C T 17: 45,046,203 (GRCm39) V107I possibly damaging Het
Rusc2 A G 4: 43,422,846 (GRCm39) I994M probably benign Het
Ryr1 T A 7: 28,808,812 (GRCm39) D420V probably benign Het
Scgb3a2 T A 18: 43,897,499 (GRCm39) I6N probably damaging Het
Sdc3 T A 4: 130,544,233 (GRCm39) probably benign Het
Sik2 A G 9: 50,808,755 (GRCm39) V658A probably benign Het
Slc25a39 A G 11: 102,296,601 (GRCm39) V81A probably damaging Het
Snai2 T A 16: 14,526,113 (GRCm39) S255T possibly damaging Het
Sorbs1 A T 19: 40,316,060 (GRCm39) Y371* probably null Het
Spata31d1b A T 13: 59,863,236 (GRCm39) H128L probably benign Het
Spdl1 A T 11: 34,721,706 (GRCm39) M1K probably null Het
Tgm3 T A 2: 129,868,697 (GRCm39) N211K probably benign Het
Tmem116 T C 5: 121,606,050 (GRCm39) probably null Het
Tmem132e T A 11: 82,329,212 (GRCm39) probably null Het
Tmem53 T C 4: 117,125,705 (GRCm39) C251R probably damaging Het
Trcg1 A C 9: 57,152,856 (GRCm39) D551A probably damaging Het
Trp63 T A 16: 25,620,843 (GRCm39) F12I probably benign Het
Ttn C T 2: 76,709,401 (GRCm39) probably null Het
Tubgcp4 T C 2: 121,025,946 (GRCm39) V596A probably benign Het
Ugt2a3 A C 5: 87,473,491 (GRCm39) H475Q probably damaging Het
Unc79 G A 12: 103,025,759 (GRCm39) R382K probably damaging Het
Vmn2r58 T C 7: 41,513,662 (GRCm39) H327R possibly damaging Het
Vmn2r7 G A 3: 64,623,987 (GRCm39) T111I possibly damaging Het
Zfp318 T A 17: 46,708,138 (GRCm39) Y399N probably damaging 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
R2252:Sash1 UTSW 10 8,605,741 (GRCm39) missense probably benign 0.01
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
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'- CTGGCTTTCTTCAGTGGCAG -3'
(R):5'- AATGTACCAGAAGTGCCGCAG -3'

Sequencing Primer
(F):5'- ACCAAGTGCAGGCCATTG -3'
(R):5'- AGAAGACGTCTGCCTGCAC -3'
Posted On 2019-05-13