Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01788:Sash1'

155111

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Sash1

Ensembl Gene

ENSMUSG00000015305

Gene Name

SAM and SH3 domain containing 1

Synonyms

A330076K04Rik, 2500002E12Rik, 1100001C18Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01788

Quality Score

Status

Chromosome

Chromosomal Location

8597983-8761814 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 8609410 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 713 (R713L)

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: R713L

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000015449
Gene: ENSMUSG00000015305
AA Change: R713L

Domain	Start	End	E-Value	Type
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

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9230009I02Rik	T	G	11: 50,982,542 (GRCm39)		noncoding transcript	Het
Acp6	A	G	3: 97,073,198 (GRCm39)	T80A	probably damaging	Het
Adamtsl5	T	C	10: 80,180,757 (GRCm39)	T102A	probably benign	Het
Adcy6	C	A	15: 98,494,400 (GRCm39)	E812*	probably null	Het
Apol6	G	A	15: 76,935,216 (GRCm39)	V162I	possibly damaging	Het
Atp6v1h	T	A	1: 5,220,206 (GRCm39)	M396K	possibly damaging	Het
B3gnt8	A	G	7: 25,328,613 (GRCm39)	T348A	probably damaging	Het
Cgnl1	A	G	9: 71,562,672 (GRCm39)	V869A	probably benign	Het
Dcaf5	A	T	12: 80,395,098 (GRCm39)	I357N	probably damaging	Het
Dennd4a	A	G	9: 64,749,903 (GRCm39)	I165V	probably benign	Het
Dlgap2	T	A	8: 14,893,631 (GRCm39)	I982K	probably benign	Het
Dop1a	A	T	9: 86,413,772 (GRCm39)	H1891L	probably benign	Het
Fhad1	A	C	4: 141,660,113 (GRCm39)	S65R	probably benign	Het
Fn1	A	G	1: 71,652,996 (GRCm39)	I1331T	probably damaging	Het
Fto	A	T	8: 92,136,359 (GRCm39)	Y211F	probably benign	Het
Gm3278	A	C	14: 16,080,370 (GRCm39)	R60S	probably benign	Het
Ifna9	A	G	4: 88,510,097 (GRCm39)	S176P	probably damaging	Het
Klk1	T	C	7: 43,878,407 (GRCm39)	I189T	probably benign	Het
Mcph1	G	A	8: 18,682,419 (GRCm39)	G519R	probably damaging	Het
Mcph1	G	A	8: 18,682,420 (GRCm39)	G519E	probably damaging	Het
N4bp1	A	T	8: 87,587,624 (GRCm39)	V438E	probably benign	Het
Ncapg	T	A	5: 45,828,423 (GRCm39)	V58E	probably damaging	Het
Nid2	T	A	14: 19,858,047 (GRCm39)	S1054T	probably damaging	Het
Nlrp4a	A	T	7: 26,153,492 (GRCm39)	Y681F	probably benign	Het
Or4f57	T	C	2: 111,791,352 (GRCm39)	D22G	probably benign	Het
Or4k15c	A	G	14: 50,321,959 (GRCm39)	Y60H	probably damaging	Het
Or52e19b	C	A	7: 103,032,770 (GRCm39)	M146I	probably benign	Het
Or5b94	G	A	19: 12,652,442 (GRCm39)	R291K	probably damaging	Het
Papln	A	T	12: 83,822,236 (GRCm39)	T364S	probably benign	Het
Pcdh18	C	A	3: 49,710,371 (GRCm39)	E315*	probably null	Het
Pmel	G	A	10: 128,553,701 (GRCm39)	R445Q	probably damaging	Het
Ppp1r12b	C	T	1: 134,821,245 (GRCm39)	V182I	possibly damaging	Het
Ptprn2	A	G	12: 116,864,607 (GRCm39)	T541A	probably damaging	Het
Rbl1	A	T	2: 157,005,576 (GRCm39)	N813K	probably benign	Het
Slc13a1	T	G	6: 24,134,371 (GRCm39)	T171P	probably damaging	Het
Slc18b1	G	T	10: 23,701,899 (GRCm39)	E407D	probably damaging	Het
Slc2a6	G	A	2: 26,914,227 (GRCm39)	Q297*	probably null	Het
Vmn1r209	T	C	13: 22,989,832 (GRCm39)	H286R	probably damaging	Het
Vmn1r28	C	A	6: 58,242,522 (GRCm39)	H122N	probably benign	Het
Wfs1	A	G	5: 37,125,980 (GRCm39)	Y304H	probably benign	Het
Zfp512b	A	G	2: 181,230,556 (GRCm39)	S445P	possibly damaging	Het

Other mutations in Sash1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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

Posted On

2014-02-04