Mutagenetix > Incidental Mutation

Incidental Mutation 'R8703:Sash1'

669159

Institutional Source

Beutler Lab

Gene Symbol

Sash1

Ensembl Gene

ENSMUSG00000015305

Gene Name

SAM and SH3 domain containing 1

Synonyms

A330076K04Rik, 2500002E12Rik, 1100001C18Rik

MMRRC Submission

068557-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8703 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

8597983-8761814 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 8605595 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Cysteine at position 932 (G932C)

Ref Sequence

ENSEMBL: ENSMUSP00000015449 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000015449
AA Change: G932C

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000015449
Gene: ENSMUSG00000015305
AA Change: G932C

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

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (44/44)

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	G	A	13: 81,676,792 (GRCm39)	T2013I	probably damaging	Het
Ak9	A	T	10: 41,201,120 (GRCm39)	N137Y		Het
Apol10b	T	A	15: 77,472,897 (GRCm39)	E52D	probably damaging	Het
Calr3	A	T	8: 73,192,291 (GRCm39)	Y128N	probably damaging	Het
Dnah14	T	A	1: 181,493,576 (GRCm39)	L1669*	probably null	Het
Dppa3	A	T	6: 122,605,737 (GRCm39)	D97V	probably damaging	Het
Dync1li1	C	A	9: 114,552,329 (GRCm39)	P490T	probably damaging	Het
Eya4	A	G	10: 23,039,340 (GRCm39)	S85P	probably benign	Het
Fpr-rs4	T	A	17: 18,242,332 (GRCm39)	I113N	probably damaging	Het
Fryl	T	C	5: 73,247,997 (GRCm39)	D1040G	probably damaging	Het
Fsip2	A	T	2: 82,821,871 (GRCm39)	D5868V	probably damaging	Het
Gpr75	A	C	11: 30,841,890 (GRCm39)	Q265P	probably damaging	Het
Iqcm	G	T	8: 76,615,271 (GRCm39)	G451C	probably damaging	Het
Lgr5	A	G	10: 115,288,610 (GRCm39)	L678P	probably benign	Het
Mcm9	G	A	10: 53,506,073 (GRCm39)	P67L	probably damaging	Het
Naalad2	A	C	9: 18,290,008 (GRCm39)	Y207D	probably damaging	Het
Nrap	C	T	19: 56,323,703 (GRCm39)	D1325N	probably damaging	Het
Nup133	A	G	8: 124,643,021 (GRCm39)		probably null	Het
Ogfr	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	2: 180,237,059 (GRCm39)		probably benign	Het
Or4b1b	T	A	2: 90,126,837 (GRCm39)	I123F	probably damaging	Het
Or8k28	C	A	2: 86,286,244 (GRCm39)	V124L	possibly damaging	Het
Or9i14	G	T	19: 13,792,105 (GRCm39)	P283H	probably damaging	Het
Per2	T	A	1: 91,351,767 (GRCm39)	N913I	possibly damaging	Het
Rab9	C	T	X: 165,240,754 (GRCm39)	D186N	probably benign	Het
Reps1	C	T	10: 17,968,990 (GRCm39)	R183C	probably damaging	Het
Rims1	A	T	1: 22,496,137 (GRCm39)	C134S		Het
Rpl10-ps3	A	G	9: 50,256,184 (GRCm39)	S20P	probably benign	Het
Sema4d	T	C	13: 51,854,959 (GRCm39)	Q46R		Het
Sh3d19	A	G	3: 86,014,568 (GRCm39)	E453G	probably damaging	Het
Sirt6	A	G	10: 81,461,548 (GRCm39)		probably benign	Het
Sis	A	T	3: 72,867,657 (GRCm39)	F129L	probably damaging	Het
Skint5	T	A	4: 113,733,207 (GRCm39)	I399F	unknown	Het
Slc22a7	T	C	17: 46,744,951 (GRCm39)	D365G	probably damaging	Het
Slc6a12	A	G	6: 121,324,447 (GRCm39)	M38V	probably benign	Het
Slc9b2	C	A	3: 135,031,924 (GRCm39)	Y261*	probably null	Het
Spata21	A	G	4: 140,832,218 (GRCm39)	I460V	probably benign	Het
Tes	C	G	6: 17,099,788 (GRCm39)	P261R	probably damaging	Het
Tex15	T	C	8: 34,062,724 (GRCm39)	L718P	probably benign	Het
Tmem135	G	A	7: 88,808,170 (GRCm39)	A202V	probably benign	Het
Usp29	T	C	7: 6,964,321 (GRCm39)	F55L	probably benign	Het
Usp9y	A	G	Y: 1,356,317 (GRCm39)	L1128P	probably damaging	Het
Zdhhc5	T	C	2: 84,520,596 (GRCm39)	E527G	probably benign	Het
Zfand4	A	G	6: 116,250,604 (GRCm39)	I11M	probably damaging	Het
Zfp110	T	A	7: 12,582,888 (GRCm39)	I512K	probably benign	Het
Zfp638	T	A	6: 83,954,143 (GRCm39)	F1416Y	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
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
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'- CTGGCTTTCTTCAGTGGCAG -3'
(R):5'- GAATGTACCAGAAGTGCCGCAG -3'

Sequencing Primer
(F):5'- ACCAAGTGCAGGCCATTG -3'
(R):5'- AGAAGACGTCTGCCTGCAC -3'

Posted On

2021-04-30