Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02504:Sash1'

296205

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 #

IGL02504

Quality Score

Status

Chromosome

Chromosomal Location

8597983-8761814 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 8605676 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 905 (S905P)

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: S905P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000015449
Gene: ENSMUSG00000015305
AA Change: S905P

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ago4	T	A	4: 126,411,232 (GRCm39)	N142I	probably benign	Het
Asf1b	A	G	8: 84,682,458 (GRCm39)	M1V	probably null	Het
Astn1	T	C	1: 158,329,978 (GRCm39)	C278R	probably damaging	Het
Ccdc162	A	T	10: 41,428,384 (GRCm39)	L692Q	probably damaging	Het
Cd207	T	A	6: 83,654,788 (GRCm39)		probably benign	Het
Chd5	T	A	4: 152,447,779 (GRCm39)	N548K	probably damaging	Het
Col7a1	G	A	9: 108,809,743 (GRCm39)	G2659D	unknown	Het
Cpa6	A	T	1: 10,559,144 (GRCm39)	Y75N	probably benign	Het
Cspg4	G	T	9: 56,793,056 (GRCm39)	V264L	probably benign	Het
Cyp3a25	T	A	5: 145,930,141 (GRCm39)	I155L	probably benign	Het
Dock6	A	G	9: 21,757,951 (GRCm39)	I51T	probably benign	Het
Dse	G	T	10: 34,028,796 (GRCm39)	Q765K	probably benign	Het
Fam219b	A	T	9: 57,445,351 (GRCm39)	M87L	probably benign	Het
Fat3	G	A	9: 15,871,094 (GRCm39)	R3766C	probably damaging	Het
Fcnb	A	C	2: 27,966,606 (GRCm39)	M309R	probably damaging	Het
Fnbp4	C	A	2: 90,598,887 (GRCm39)	N670K	probably damaging	Het
Fsip2	T	A	2: 82,809,199 (GRCm39)	N1839K	possibly damaging	Het
G6pc2	A	G	2: 69,056,939 (GRCm39)	H195R	probably damaging	Het
Gm14179	A	T	11: 99,634,003 (GRCm39)			Het
Grm5	A	G	7: 87,779,980 (GRCm39)	N1172S	probably benign	Het
Hsd17b14	A	G	7: 45,205,799 (GRCm39)	T64A	possibly damaging	Het
Hspb7	G	T	4: 141,149,131 (GRCm39)	E12D	probably benign	Het
Kdm2a	T	C	19: 4,406,799 (GRCm39)	N155D	possibly damaging	Het
Klhl24	A	T	16: 19,934,693 (GRCm39)	R389*	probably null	Het
Kmt2b	A	G	7: 30,285,968 (GRCm39)		probably benign	Het
Krt4	T	A	15: 101,827,727 (GRCm39)	I469F	unknown	Het
Mto1	A	T	9: 78,368,209 (GRCm39)	D451V	probably damaging	Het
Muc5b	A	T	7: 141,400,177 (GRCm39)	D477V	unknown	Het
Pcsk5	A	G	19: 17,455,236 (GRCm39)		probably null	Het
Ppil4	T	A	10: 7,696,748 (GRCm39)	Y420*	probably null	Het
Ppp2r5d	A	T	17: 47,011,019 (GRCm39)	D27E	probably benign	Het
Prkd2	T	C	7: 16,591,757 (GRCm39)	L596P	probably damaging	Het
Prr30	T	C	14: 101,436,056 (GRCm39)	I169V	probably benign	Het
Rtl9	A	T	X: 141,885,287 (GRCm39)	T900S	probably benign	Het
Scn2a	G	A	2: 65,514,228 (GRCm39)	G304D	probably benign	Het
Scp2d1	T	C	2: 144,665,877 (GRCm39)	L72P	probably damaging	Het
Septin2	T	A	1: 93,428,203 (GRCm39)	H166Q	probably benign	Het
Sgcb	A	G	5: 73,801,718 (GRCm39)	I49T	probably damaging	Het
Smyd4	T	A	11: 75,281,507 (GRCm39)	W327R	probably damaging	Het
Sptbn1	C	T	11: 30,092,293 (GRCm39)	E491K	probably damaging	Het
Tcaf1	A	T	6: 42,656,213 (GRCm39)	H254Q	probably benign	Het
Tll1	A	C	8: 64,523,271 (GRCm39)	D480E	possibly damaging	Het
Tlr3	G	A	8: 45,850,944 (GRCm39)	T127M	probably damaging	Het
Trio	A	T	15: 27,847,476 (GRCm39)	C929*	probably null	Het
Ttn	C	T	2: 76,628,494 (GRCm39)	W12809*	probably null	Het
Ugt2b35	T	A	5: 87,149,400 (GRCm39)	M217K	possibly damaging	Het
Unc13b	T	C	4: 43,263,031 (GRCm39)	V4261A	probably damaging	Het
Uqcrc2	T	C	7: 120,242,254 (GRCm39)	I82T	probably benign	Het
Usp21	A	G	1: 171,112,596 (GRCm39)	I266T	probably benign	Het
Veph1	A	T	3: 66,079,551 (GRCm39)	H321Q	probably damaging	Het
Vmn1r29	A	C	6: 58,284,655 (GRCm39)	Y125S	probably benign	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
IGL02285:Sash1	APN	10	8,616,098 (GRCm39)	missense	probably damaging	0.99
IGL02400:Sash1	APN	10	8,609,411 (GRCm39)	nonsense	probably null
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