Incidental Mutation 'R5420:Sash1'
ID 427993
Institutional Source Beutler Lab
Gene Symbol Sash1
Ensembl Gene ENSMUSG00000015305
Gene Name SAM and SH3 domain containing 1
Synonyms A330076K04Rik, 2500002E12Rik, 1100001C18Rik
MMRRC Submission 042988-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5420 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 8597983-8761814 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 8621950 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 398 (T398I)
Ref Sequence ENSEMBL: ENSMUSP00000015449 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015449] [ENSMUST00000212553] [ENSMUST00000212869]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000015449
AA Change: T398I

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000015449
Gene: ENSMUSG00000015305
AA Change: T398I

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: ENSMUST00000212553
Predicted Effect possibly damaging
Transcript: ENSMUST00000212869
AA Change: T324I

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
Meta Mutation Damage Score 0.1974 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.7%
Validation Efficiency 97% (66/68)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn3 TGCGCAGC T 19: 4,915,372 (GRCm39) probably null Het
Adamts1 A T 16: 85,596,497 (GRCm39) C117* probably null Het
Adgrg6 A T 10: 14,302,730 (GRCm39) Y894* probably null Het
Alas1 G T 9: 106,111,358 (GRCm39) L603I probably benign Het
Arhgap21 G T 2: 20,885,897 (GRCm39) R427S probably damaging Het
Arhgef25 A T 10: 127,023,143 (GRCm39) V88D probably benign Het
Bdp1 T C 13: 100,202,551 (GRCm39) Q691R possibly damaging Het
Bpifa6 T A 2: 153,831,250 (GRCm39) I272N probably damaging Het
Cacybp T C 1: 160,035,914 (GRCm39) probably benign Het
Capn3 T C 2: 120,325,777 (GRCm39) probably benign Het
Ccdc47 C T 11: 106,101,176 (GRCm39) R162Q probably benign Het
Cideb A C 14: 55,995,748 (GRCm39) M1R probably null Het
Clec16a G A 16: 10,549,543 (GRCm39) C872Y probably damaging Het
Crebbp C T 16: 3,925,322 (GRCm39) R760H probably damaging Het
Cyp2c23 A C 19: 44,004,103 (GRCm39) probably null Het
Cyp3a13 T G 5: 137,897,243 (GRCm39) D357A probably damaging Het
Dip2b C T 15: 100,103,054 (GRCm39) probably benign Het
Ecm2 A T 13: 49,681,210 (GRCm39) R448S possibly damaging Het
Edil3 T C 13: 89,279,891 (GRCm39) Y190H probably damaging Het
Eps8l1 T G 7: 4,473,160 (GRCm39) probably null Het
Eps8l3 A T 3: 107,791,301 (GRCm39) K280* probably null Het
Fam184a A G 10: 53,509,753 (GRCm39) F1137L probably damaging Het
Fmn2 A T 1: 174,526,344 (GRCm39) R1388* probably null Het
Glt8d2 T C 10: 82,488,516 (GRCm39) K318R probably benign Het
Herc2 A T 7: 55,853,578 (GRCm39) K3690I probably damaging Het
Ifi206 T A 1: 173,308,599 (GRCm39) I466F possibly damaging Het
Jade2 T C 11: 51,709,434 (GRCm39) K525R probably benign Het
Kmt2a A T 9: 44,759,633 (GRCm39) F772I probably damaging Het
Lipi A G 16: 75,352,757 (GRCm39) V360A possibly damaging Het
Mbl1 C T 14: 40,879,153 (GRCm39) S108L possibly damaging Het
Mmp1b T C 9: 7,384,897 (GRCm39) I251V possibly damaging Het
Mrpl23 A G 7: 142,089,874 (GRCm39) T25A probably damaging Het
Mto1 T A 9: 78,360,109 (GRCm39) M199K probably benign Het
Nes A T 3: 87,884,309 (GRCm39) N812I probably damaging Het
Nfkbie T A 17: 45,871,132 (GRCm39) D261E probably benign Het
Or7e173 T C 9: 19,938,355 (GRCm39) Y293C probably damaging Het
Pakap G A 4: 57,856,062 (GRCm39) V505I probably benign Het
Pakap T A 4: 57,856,434 (GRCm39) Y588N probably damaging Het
Papola A G 12: 105,772,754 (GRCm39) I114V possibly damaging Het
Pappa T G 4: 65,254,017 (GRCm39) probably null Het
Pcdh7 T A 5: 57,877,529 (GRCm39) D361E probably damaging Het
Pick1 A G 15: 79,133,040 (GRCm39) T367A probably benign Het
Plbd2 A G 5: 120,632,547 (GRCm39) Y152H probably damaging Het
Ppfia2 A T 10: 106,671,562 (GRCm39) E424D possibly damaging Het
Rab7b C T 1: 131,626,164 (GRCm39) T64I probably damaging Het
Rarb T A 14: 16,434,249 (GRCm38) I310F possibly damaging Het
Rdh16f2 C T 10: 127,712,943 (GRCm39) P314S possibly damaging Het
Rpain A T 11: 70,868,516 (GRCm39) probably null Het
Rufy3 T C 5: 88,788,518 (GRCm39) *488Q probably null Het
Scara5 CG C 14: 65,997,111 (GRCm39) probably null Het
Scrn1 T A 6: 54,489,048 (GRCm39) I358F probably benign Het
Stam2 G A 2: 52,626,305 (GRCm39) probably benign Het
Thbs1 G T 2: 117,943,636 (GRCm39) D85Y possibly damaging Het
Thoc2l T A 5: 104,666,225 (GRCm39) I249N probably damaging Het
Trp53 T C 11: 69,479,146 (GRCm39) probably benign Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Vmn1r223 A G 13: 23,433,675 (GRCm39) R90G probably benign Het
Zfp521 A T 18: 13,977,144 (GRCm39) Y1090N probably damaging Het
Zfp677 T C 17: 21,618,175 (GRCm39) C411R 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
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'- TTGGGACCACTGTGCAAAGC -3'
(R):5'- CTAGTGGCCTGAGCAAACAC -3'

Sequencing Primer
(F):5'- TGTGCAAAGCTGGAATCAACTCTC -3'
(R):5'- ACCAAATAAGAAAGGTCTCATGTTTC -3'
Posted On 2016-09-01