Incidental Mutation 'R2015:Sash1'
ID 222839
Institutional Source Beutler Lab
Gene Symbol Sash1
Ensembl Gene ENSMUSG00000015305
Gene Name SAM and SH3 domain containing 1
Synonyms A330076K04Rik, 2500002E12Rik, 1100001C18Rik
MMRRC Submission 040024-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2015 (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 8605177 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 1071 (V1071D)
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: V1071D

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000015449
Gene: ENSMUSG00000015305
AA Change: V1071D

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.7%
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: 94 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 A T 11: 110,022,672 (GRCm39) M1022K probably benign Het
Abhd4 T A 14: 54,500,289 (GRCm39) H74Q probably damaging Het
Actg1 A G 11: 120,237,636 (GRCm39) S49P possibly damaging Het
Adcy8 C T 15: 64,639,727 (GRCm39) G678S probably benign Het
Aire T C 10: 77,878,792 (GRCm39) D85G probably damaging Het
Akr1c18 T A 13: 4,195,308 (GRCm39) D50V probably damaging Het
Ankrd13a C A 5: 114,930,170 (GRCm39) A185E probably damaging Het
Apc A G 18: 34,448,644 (GRCm39) I1813V probably damaging Het
Armc8 A T 9: 99,365,158 (GRCm39) C661* probably null Het
Bbs10 C T 10: 111,136,716 (GRCm39) Q610* probably null Het
Blm T C 7: 80,152,147 (GRCm39) E600G probably damaging Het
Bpifb9a T C 2: 154,110,120 (GRCm39) probably null Het
Cdk14 T C 5: 5,430,082 (GRCm39) K15R probably benign Het
Cdr1 A G X: 60,228,420 (GRCm39) F249L probably benign Het
Cep250 A C 2: 155,823,373 (GRCm39) H1009P probably damaging Het
Cfap97d1 C A 11: 101,878,044 (GRCm39) H35Q probably damaging Het
Clasp2 A G 9: 113,740,568 (GRCm39) T495A possibly damaging Het
Col19a1 C G 1: 24,598,834 (GRCm39) G53A unknown Het
Cpne1 G A 2: 155,920,308 (GRCm39) R166C probably damaging Het
Dtx3l G A 16: 35,756,797 (GRCm39) H129Y probably benign Het
Ercc3 A G 18: 32,381,482 (GRCm39) T433A probably benign Het
Gm9936 T A 5: 114,995,482 (GRCm39) probably benign Het
Grina T C 15: 76,132,734 (GRCm39) V167A probably damaging Het
H2ac25 T A 11: 58,845,754 (GRCm39) L64Q probably damaging Het
Hcfc2 A G 10: 82,574,814 (GRCm39) N618D probably benign Het
Herpud1 T C 8: 95,118,834 (GRCm39) V196A probably benign Het
Hlcs A G 16: 94,063,599 (GRCm39) V487A probably benign Het
Hspa9 A T 18: 35,079,701 (GRCm39) Y243N probably damaging Het
Igll1 A G 16: 16,681,639 (GRCm39) S39P probably benign Het
Kdm5a T C 6: 120,408,951 (GRCm39) S1545P probably benign Het
Klra8 C A 6: 130,092,536 (GRCm39) C255F probably damaging Het
Krtap4-6 A T 11: 99,556,398 (GRCm39) C110S unknown Het
Lef1 T A 3: 130,905,236 (GRCm39) I39N probably damaging Het
Lnpep G A 17: 17,799,325 (GRCm39) T110I probably damaging Het
Lrp1 T A 10: 127,376,563 (GRCm39) T4282S probably benign Het
Lrp6 A G 6: 134,457,337 (GRCm39) probably null Het
Ly6g5b A C 17: 35,333,654 (GRCm39) S53A possibly damaging Het
M6pr T G 6: 122,290,332 (GRCm39) N98K probably damaging Het
Mal2 T C 15: 54,464,136 (GRCm39) *176Q probably null Het
Mansc1 T C 6: 134,587,274 (GRCm39) D301G possibly damaging Het
Marchf1 C A 8: 66,574,473 (GRCm39) N11K probably damaging Het
Mast3 T A 8: 71,240,007 (GRCm39) I338F probably benign Het
Mcm3 A G 1: 20,873,804 (GRCm39) L772P probably damaging Het
Mib2 C T 4: 155,742,337 (GRCm39) G176D probably damaging Het
Mier2 A T 10: 79,377,036 (GRCm39) probably null Het
Mogs C T 6: 83,094,631 (GRCm39) R483* probably null Het
Msl2 G T 9: 100,957,304 (GRCm39) probably benign Het
Naa16 A T 14: 79,582,499 (GRCm39) M530K probably damaging Het
Nde1 A T 16: 13,987,321 (GRCm39) probably benign Het
Ndufb10 T C 17: 24,941,503 (GRCm39) probably null Het
Nhsl1 A T 10: 18,387,340 (GRCm39) R205W probably damaging Het
Npffr2 T A 5: 89,730,751 (GRCm39) I227N probably damaging Het
Nup210l T A 3: 90,092,739 (GRCm39) L1231Q probably damaging Het
Or2f1 A G 6: 42,721,784 (GRCm39) E271G probably damaging Het
Or7a39 T C 10: 78,715,222 (GRCm39) I72T possibly damaging Het
Pclo C A 5: 14,571,515 (GRCm39) P300Q probably damaging Het
Pik3c2a T A 7: 115,950,166 (GRCm39) probably null Het
Plekha5 T A 6: 140,480,290 (GRCm39) probably null Het
Pls1 A G 9: 95,643,418 (GRCm39) V527A possibly damaging Het
Ppfia2 T C 10: 106,310,538 (GRCm39) M15T probably benign Het
Prkd2 T A 7: 16,581,602 (GRCm39) C152* probably null Het
Ptprq T G 10: 107,503,283 (GRCm39) K792Q probably damaging Het
Pttg1ip2 T A 5: 5,505,964 (GRCm39) I106L probably benign Het
Rbbp8 T C 18: 11,853,681 (GRCm39) M296T probably benign Het
Rfc3 T C 5: 151,571,003 (GRCm39) probably null Het
Rnf17 A G 14: 56,724,426 (GRCm39) N1090S probably benign Het
Sdsl G A 5: 120,601,218 (GRCm39) T18M probably damaging Het
Sepsecs T A 5: 52,804,966 (GRCm39) Q365L probably benign Het
Sgta A T 10: 80,887,130 (GRCm39) V45E probably damaging Het
Slc25a46 A T 18: 31,742,778 (GRCm39) H29Q probably benign Het
Slc2a8 A C 2: 32,871,392 (GRCm39) V136G probably benign Het
Smg7 A T 1: 152,736,259 (GRCm39) N166K probably damaging Het
Spata21 C T 4: 140,834,640 (GRCm39) Q505* probably null Het
Strn4 T C 7: 16,566,953 (GRCm39) S458P possibly damaging Het
Tbc1d22a C T 15: 86,183,885 (GRCm39) T248M probably damaging Het
Trabd T A 15: 88,968,929 (GRCm39) M149K possibly damaging Het
Trpv3 A T 11: 73,170,653 (GRCm39) N178Y probably damaging Het
Try5 C T 6: 41,291,585 (GRCm39) probably null Het
Tsg101 C T 7: 46,558,652 (GRCm39) probably null Het
Ube3b A G 5: 114,549,210 (GRCm39) E738G probably damaging Het
Unc13d A G 11: 115,959,581 (GRCm39) S631P probably damaging Het
Unc5d T C 8: 29,249,007 (GRCm39) T297A probably damaging Het
Usp18 A T 6: 121,245,509 (GRCm39) E1V probably damaging Het
Vapb C A 2: 173,613,391 (GRCm39) P97T probably benign Het
Vmn1r33 T A 6: 66,589,356 (GRCm39) D66V probably benign Het
Vmn2r19 T A 6: 123,292,954 (GRCm39) M332K probably benign Het
Vmn2r71 T A 7: 85,269,845 (GRCm39) M452K probably benign Het
Vps13b T C 15: 35,607,288 (GRCm39) S1074P probably damaging Het
Vwde C A 6: 13,208,337 (GRCm39) G182C possibly damaging Het
Wdfy3 A C 5: 102,008,352 (GRCm39) S2778A probably null Het
Zbtb2 T A 10: 4,319,757 (GRCm39) I90F possibly damaging Het
Zfp518b C A 5: 38,829,345 (GRCm39) V887F probably benign Het
Zfp790 A G 7: 29,528,286 (GRCm39) T324A probably benign Het
Zup1 A G 10: 33,805,820 (GRCm39) V437A possibly 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
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
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'- TGTGACCAAGGCCTTTCCTG -3'
(R):5'- TGCCACTGAAGAAAGCCAGC -3'

Sequencing Primer
(F):5'- ATCTCTGAGTTCAAGGCCAGC -3'
(R):5'- TGAAGAAAGCCAGCCCTGC -3'
Posted On 2014-08-25