Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02285:Sash1'

289949

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 #

IGL02285

Quality Score

Status

Chromosome

Chromosomal Location

8597983-8761814 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 8616098 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 588 (M588K)

Ref Sequence

ENSEMBL: ENSMUSP00000015449 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000015449] [ENSMUST00000212869]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000015449
AA Change: M588K

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000015449
Gene: ENSMUSG00000015305
AA Change: M588K

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

Predicted Effect

probably benign
Transcript: ENSMUST00000212869

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ago3	A	G	4: 126,244,670 (GRCm39)	V672A	possibly damaging	Het
Arhgef28	A	T	13: 98,187,536 (GRCm39)	V253D	possibly damaging	Het
Atg3	G	A	16: 44,998,680 (GRCm39)		probably benign	Het
Camsap1	T	C	2: 25,819,814 (GRCm39)	D1557G	probably damaging	Het
Cdh20	A	G	1: 110,065,921 (GRCm39)	T732A	probably damaging	Het
Cert1	A	G	13: 96,752,990 (GRCm39)	H348R	probably benign	Het
Cyp3a13	T	A	5: 137,908,229 (GRCm39)	I207F	probably benign	Het
Dock1	T	G	7: 134,683,649 (GRCm39)		probably null	Het
Drc7	A	T	8: 95,797,861 (GRCm39)		probably benign	Het
Drosha	C	A	15: 12,833,950 (GRCm39)	P18H	unknown	Het
Fbxl5	A	G	5: 43,922,690 (GRCm39)	S243P	possibly damaging	Het
Filip1	A	G	9: 79,727,408 (GRCm39)	C404R	probably damaging	Het
Gm5745	G	A	9: 73,082,780 (GRCm39)		noncoding transcript	Het
Gm7808	T	G	9: 19,839,347 (GRCm39)		probably benign	Het
Gpi-ps	C	T	8: 5,690,373 (GRCm39)		noncoding transcript	Het
Hcn3	T	C	3: 89,060,119 (GRCm39)	D175G	probably damaging	Het
Igkv1-117	A	T	6: 68,098,519 (GRCm39)	M23L	probably benign	Het
Kif26a	A	G	12: 112,123,941 (GRCm39)	D182G	probably damaging	Het
Lmbr1	A	G	5: 29,459,233 (GRCm39)		probably benign	Het
Lypd4	T	A	7: 24,564,865 (GRCm39)	Q91L	probably damaging	Het
Ncoa5	C	T	2: 164,844,760 (GRCm39)	A37T	probably damaging	Het
Or52ad1	G	A	7: 102,995,245 (GRCm39)	R297*	probably null	Het
Or56b1	A	G	7: 104,284,932 (GRCm39)	E17G	probably benign	Het
Or7g17	T	A	9: 18,768,286 (GRCm39)	C122S	possibly damaging	Het
Ppp1r18	A	G	17: 36,178,148 (GRCm39)	K8E	probably damaging	Het
Ppp3ca	A	G	3: 136,634,387 (GRCm39)		probably benign	Het
Ptpn12	T	A	5: 21,260,711 (GRCm39)	Q12L	probably benign	Het
Rpgrip1l	A	G	8: 91,959,535 (GRCm39)	F1122L	possibly damaging	Het
Rps15	G	T	10: 80,129,596 (GRCm39)	M43I	probably benign	Het
Rrp15	T	C	1: 186,453,592 (GRCm39)		probably benign	Het
Slc12a7	A	G	13: 73,943,714 (GRCm39)		probably benign	Het
Slc25a13	A	G	6: 6,042,643 (GRCm39)	V587A	possibly damaging	Het
Sugct	T	C	13: 17,847,181 (GRCm39)	D34G	possibly damaging	Het
Tdpoz2	T	A	3: 93,559,598 (GRCm39)	I125F	probably damaging	Het
Trim52	T	A	14: 106,344,702 (GRCm39)	L120Q	probably damaging	Het
Vmn1r85	T	C	7: 12,818,711 (GRCm39)	I144M	probably damaging	Het
Vmn2r107	T	C	17: 20,595,823 (GRCm39)	F792S	probably damaging	Het
Vsnl1	A	G	12: 11,436,878 (GRCm39)	F34L	probably 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
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
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

2015-04-16