Mutagenetix > Incidental Mutation

Incidental Mutation 'R4657:Sash1'

352531

Institutional Source

Beutler Lab

Gene Symbol

Sash1

Ensembl Gene

ENSMUSG00000015305

Gene Name

SAM and SH3 domain containing 1

Synonyms

A330076K04Rik, 2500002E12Rik, 1100001C18Rik

MMRRC Submission

041917-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4657 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

8597983-8761814 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 8601424 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 1177 (Y1177C)

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: Y1177C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000015449
Gene: ENSMUSG00000015305
AA Change: Y1177C

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

Meta Mutation Damage Score

0.4812

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.6%

Validation Efficiency

98% (105/107)

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: 102 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatk	A	T	11: 119,904,304 (GRCm39)	V264E	possibly damaging	Het
Abcg1	T	A	17: 31,327,408 (GRCm39)	W368R	probably benign	Het
Acin1	A	G	14: 54,880,504 (GRCm39)	I476T	possibly damaging	Het
Acsm1	T	A	7: 119,239,917 (GRCm39)	I287N	possibly damaging	Het
Adgrv1	C	T	13: 81,553,483 (GRCm39)	V5464I	probably benign	Het
AI429214	T	A	8: 37,461,545 (GRCm39)	L231Q	probably damaging	Het
Akp3	A	G	1: 87,053,556 (GRCm39)		probably benign	Het
Amy2b	C	T	3: 113,060,793 (GRCm39)		noncoding transcript	Het
Apoa5	A	G	9: 46,181,170 (GRCm39)	Q82R	probably benign	Het
Arhgap44	A	G	11: 64,896,278 (GRCm39)		probably null	Het
Arhgef38	C	A	3: 132,940,442 (GRCm39)	G48V	probably damaging	Het
Bltp3a	T	A	17: 28,109,079 (GRCm39)	F1099L	probably benign	Het
Bod1l	G	T	5: 41,975,955 (GRCm39)	N1786K	probably benign	Het
Cav2	A	T	6: 17,281,409 (GRCm39)	D17V	probably null	Het
Ccdc148	G	T	2: 58,891,900 (GRCm39)	N238K	probably benign	Het
Ccin	A	T	4: 43,984,981 (GRCm39)	I463F	probably damaging	Het
Cd8b1	C	T	6: 71,306,758 (GRCm39)	H162Y	possibly damaging	Het
Cdh16	T	A	8: 105,341,858 (GRCm39)		probably null	Het
Cfap65	T	A	1: 74,964,513 (GRCm39)		probably benign	Het
Clec4n	T	C	6: 123,209,155 (GRCm39)		probably null	Het
Cpne7	T	A	8: 123,861,314 (GRCm39)	*558R	probably null	Het
Cs	A	G	10: 128,189,006 (GRCm39)	I172V	probably benign	Het
Cyp2ab1	A	T	16: 20,131,822 (GRCm39)	L306Q	probably damaging	Het
D16Ertd472e	A	T	16: 78,344,814 (GRCm39)	V98E	probably damaging	Het
Dcaf15	A	C	8: 84,829,467 (GRCm39)	S92A	probably damaging	Het
Dkk3	T	C	7: 111,748,253 (GRCm39)		probably null	Het
Dnah11	A	T	12: 118,156,162 (GRCm39)	C163S	probably benign	Het
Eda2r	T	A	X: 96,385,239 (GRCm39)	Q171L	probably damaging	Het
Eml4	A	T	17: 83,758,377 (GRCm39)	K397*	probably null	Het
Eml6	A	T	11: 29,755,108 (GRCm39)	I889N	possibly damaging	Het
Etaa1	A	T	11: 17,896,964 (GRCm39)	D384E	possibly damaging	Het
Fzr1	T	A	10: 81,203,386 (GRCm39)		probably null	Het
Gm13889	G	T	2: 93,786,921 (GRCm39)	F61L	probably damaging	Het
Gm14149	A	T	2: 151,072,684 (GRCm39)		noncoding transcript	Het
Gm5828	T	A	1: 16,839,642 (GRCm39)		noncoding transcript	Het
Gm5866	G	A	5: 52,740,262 (GRCm39)		noncoding transcript	Het
Gp2	T	C	7: 119,056,391 (GRCm39)	I27M	probably benign	Het
Gpr83	G	A	9: 14,778,279 (GRCm39)		probably null	Het
Gucd1	T	C	10: 75,346,959 (GRCm39)	N97S	probably benign	Het
H2bc27	C	T	11: 58,839,797 (GRCm39)	P11L	probably benign	Het
H2-Q7	T	A	17: 35,661,735 (GRCm39)	V326E	possibly damaging	Het
Haao	A	T	17: 84,139,774 (GRCm39)	D227E	possibly damaging	Het
Hipk3	C	T	2: 104,264,104 (GRCm39)	S819N	probably benign	Het
Hlcs	A	G	16: 94,063,557 (GRCm39)	V501A	probably benign	Het
Hmcn1	A	G	1: 150,500,301 (GRCm39)	Y3964H	probably damaging	Het
Ifi204	C	A	1: 173,587,927 (GRCm39)		probably benign	Het
Ifi211	A	G	1: 173,735,226 (GRCm39)	F68L	probably benign	Het
Ift57	A	G	16: 49,582,957 (GRCm39)		probably null	Het
Ighv5-12-4	A	T	12: 113,725,887 (GRCm39)	L112*	probably null	Het
Il1rl2	CTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT	CTTTATTTTATTTTATTTTATTTTATTTTATTTTATT	1: 40,366,470 (GRCm39)		probably benign	Het
Il36a	T	A	2: 24,114,416 (GRCm39)	M97K	possibly damaging	Het
Itsn2	A	G	12: 4,763,197 (GRCm39)	*1686W	probably null	Het
Jkamp	G	T	12: 72,140,823 (GRCm39)	V123F	probably damaging	Het
Kat7	C	A	11: 95,168,424 (GRCm39)	V411L	probably damaging	Het
Kcnj5	A	G	9: 32,233,973 (GRCm39)	V114A	probably benign	Het
Krtap5-4	T	A	7: 141,857,491 (GRCm39)	C54S	unknown	Het
Lats1	T	A	10: 7,581,448 (GRCm39)	N744K	possibly damaging	Het
Lpo	T	C	11: 87,705,173 (GRCm39)	E387G	probably damaging	Het
Lrba	T	G	3: 86,644,471 (GRCm39)	M388R	probably damaging	Het
Lrp2	C	A	2: 69,297,337 (GRCm39)	R3208L	probably damaging	Het
Mterf1b	T	A	5: 4,247,176 (GRCm39)	C272*	probably null	Het
Myh15	A	T	16: 48,992,421 (GRCm39)	R1632*	probably null	Het
Myo3b	T	C	2: 70,069,243 (GRCm39)	V494A	possibly damaging	Het
Myo9a	T	C	9: 59,782,699 (GRCm39)		probably null	Het
Nelfa	T	G	5: 34,059,157 (GRCm39)	S233R	probably benign	Het
Nr4a3	A	T	4: 48,051,522 (GRCm39)	E121V	probably damaging	Het
Obscn	T	A	11: 58,933,116 (GRCm39)	E5406D	probably damaging	Het
Ofcc1	G	A	13: 40,168,864 (GRCm39)	T841I	probably damaging	Het
Or1j18	T	A	2: 36,624,415 (GRCm39)	Y27*	probably null	Het
Or7e177	A	C	9: 20,211,919 (GRCm39)	H142P	probably damaging	Het
Oxct2b	T	C	4: 123,010,926 (GRCm39)	L282P	probably damaging	Het
Pappa	G	A	4: 65,233,033 (GRCm39)		probably null	Het
Pcdhb14	A	G	18: 37,581,900 (GRCm39)	I335M	possibly damaging	Het
Pcsk1	T	A	13: 75,280,354 (GRCm39)	D726E	probably damaging	Het
Pkhd1	T	A	1: 20,434,391 (GRCm39)	Q2349L	possibly damaging	Het
Pkhd1l1	G	A	15: 44,410,743 (GRCm39)	C2750Y	probably damaging	Het
Ppp2r3d	A	G	9: 124,476,821 (GRCm38)	C26R	unknown	Het
Prex2	T	A	1: 11,136,049 (GRCm39)	I74N	probably benign	Het
Ptgir	A	G	7: 16,641,071 (GRCm39)	D121G	probably benign	Het
Pwwp3a	T	A	10: 80,068,848 (GRCm39)	C331S	probably benign	Het
Ralbp1	T	C	17: 66,159,686 (GRCm39)	S526G	probably null	Het
Ric8b	T	C	10: 84,828,001 (GRCm39)	Y442H	probably damaging	Het
Rpap1	C	T	2: 119,605,487 (GRCm39)	D385N	probably benign	Het
Shroom1	T	C	11: 53,356,415 (GRCm39)	I363T	possibly damaging	Het
Slc26a9	T	C	1: 131,680,876 (GRCm39)	L95P	probably damaging	Het
Slc44a5	A	G	3: 153,962,221 (GRCm39)	T385A	possibly damaging	Het
Slc5a9	C	A	4: 111,748,941 (GRCm39)		probably null	Het
Slc7a1	T	A	5: 148,289,209 (GRCm39)	M13L	probably benign	Het
Snrpb2	A	G	2: 142,912,893 (GRCm39)	N172S	possibly damaging	Het
Spns1	G	T	7: 125,973,474 (GRCm39)		probably benign	Het
Srsf6	T	A	2: 162,775,347 (GRCm39)	S86R	probably benign	Het
Stk25	A	T	1: 93,553,378 (GRCm39)		probably benign	Het
Szt2	A	T	4: 118,254,866 (GRCm39)	C275S	probably benign	Het
Tcp10b	T	A	17: 13,292,504 (GRCm39)		probably null	Het
Tmem248	T	A	5: 130,260,615 (GRCm39)	L60H	probably damaging	Het
Trim27	T	C	13: 21,367,930 (GRCm39)	I182T	probably damaging	Het
Tspan10	A	G	11: 120,335,324 (GRCm39)	N145D	probably damaging	Het
Vps13d	A	G	4: 144,801,412 (GRCm39)	F487S	probably damaging	Het
Wdr86	A	T	5: 24,923,229 (GRCm39)	D154E	probably benign	Het
Wfdc18	C	A	11: 83,600,695 (GRCm39)	A32D	possibly damaging	Het
Wrn	A	T	8: 33,826,019 (GRCm39)		probably null	Het
Zfp811	C	A	17: 33,019,897 (GRCm39)	E7*	probably null	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
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'- GAGGGATTGTATCGGCTTCC -3'
(R):5'- CTTGGCCATGCAAAAGGTAAC -3'

Sequencing Primer
(F):5'- CTTCCTAAGCACAGTGAGAGGCTG -3'
(R):5'- AACTCACGGTGCTTGTGC -3'

Posted On

2015-10-08