Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02437:Sash3'

293320

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Sash3

Ensembl Gene

ENSMUSG00000031101

Gene Name

SAM and SH3 domain containing 3

Synonyms

1200013B08Rik, SLY1

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.132) question?

Stock #

IGL02437

Quality Score

Status

Chromosome

Chromosomal Location

47235313-47250442 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 47247672 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 169 (Q169K)

Ref Sequence

ENSEMBL: ENSMUSP00000033427 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033427]

AlphaFold

Q8K352

Predicted Effect

probably benign
Transcript: ENSMUST00000033427
AA Change: Q169K

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000033427
Gene: ENSMUSG00000031101
AA Change: Q169K

Domain	Start	End	E-Value	Type
Pfam:SLY	19	174	1.9e-51	PFAM
SH3	176	233	4.16e-5	SMART
SAM	249	316	2.59e-11	SMART
low complexity region	319	330	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene contains a Src homology-3 (SH3) domain and a sterile alpha motif (SAM), both of which are found in proteins involved in cell signaling. This protein may function as a signaling adapter protein in lymphocytes.[provided by RefSeq, Sep 2009]
PHENOTYPE: Mice homozygous for a truncation allele exhibit decreased T and B cells, altered B cell physiology and increased length of semi-identical allograft survival. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930011G23Rik	A	G	5: 99,377,236 (GRCm39)	S404P	probably damaging	Het
A930011G23Rik	G	A	5: 99,377,241 (GRCm39)	P402L	probably damaging	Het
Abca16	T	G	7: 120,132,952 (GRCm39)	C1294G	probably benign	Het
Abca7	T	A	10: 79,844,223 (GRCm39)	S1410T	probably damaging	Het
Abhd12	T	C	2: 150,676,289 (GRCm39)	D356G	probably benign	Het
BC004004	T	C	17: 29,517,671 (GRCm39)	L295P	probably damaging	Het
Bpifc	T	C	10: 85,824,595 (GRCm39)	S215G	probably damaging	Het
Bptf	C	T	11: 106,965,521 (GRCm39)	M1109I	probably benign	Het
Brat1	C	T	5: 140,698,563 (GRCm39)	A245V	possibly damaging	Het
Cask	G	A	X: 13,403,860 (GRCm39)	T16I	probably damaging	Het
Cemip2	T	C	19: 21,789,342 (GRCm39)		probably null	Het
Cibar2	T	C	8: 120,901,525 (GRCm39)	E60G	probably damaging	Het
Clic6	A	T	16: 92,327,817 (GRCm39)	I541F	probably damaging	Het
Clnk	C	T	5: 38,931,909 (GRCm39)		probably null	Het
Cntnap1	T	A	11: 101,077,677 (GRCm39)	I1113N	probably damaging	Het
Csgalnact1	C	A	8: 68,854,144 (GRCm39)	G219V	probably damaging	Het
Cyp26a1	T	C	19: 37,686,943 (GRCm39)	S132P	probably benign	Het
Cyp4f13	G	T	17: 33,149,582 (GRCm39)	H85N	probably benign	Het
Dcaf15	C	T	8: 84,828,445 (GRCm39)	G215D	probably damaging	Het
Dip2a	T	C	10: 76,134,101 (GRCm39)	T500A	probably benign	Het
Gbe1	T	A	16: 70,231,546 (GRCm39)		probably benign	Het
Gli2	T	A	1: 118,763,733 (GRCm39)	I1473F	probably damaging	Het
Gm5129	A	T	5: 29,940,861 (GRCm39)		probably benign	Het
Hdgf	C	T	3: 87,821,792 (GRCm39)	R168C	probably damaging	Het
Heph	A	G	X: 95,516,633 (GRCm39)	T342A	probably benign	Het
Kdelr3	T	C	15: 79,409,988 (GRCm39)	Y158H	probably damaging	Het
Lamb3	C	T	1: 193,010,253 (GRCm39)	R289C	probably damaging	Het
Leng8	C	T	7: 4,145,092 (GRCm39)	A164V	probably damaging	Het
Ltn1	T	C	16: 87,194,889 (GRCm39)	T1337A	probably benign	Het
Mast3	C	A	8: 71,233,202 (GRCm39)	R316L	possibly damaging	Het
Nampt	A	G	12: 32,880,215 (GRCm39)	Y36C	probably damaging	Het
Ncapd3	T	A	9: 26,975,264 (GRCm39)		probably benign	Het
Nipbl	T	C	15: 8,388,558 (GRCm39)	D354G	probably damaging	Het
Nsd1	A	T	13: 55,461,254 (GRCm39)	R2494W	probably damaging	Het
Nt5c1a	A	G	4: 123,108,034 (GRCm39)	N239S	probably benign	Het
Ogfr	A	G	2: 180,231,329 (GRCm39)	E19G	possibly damaging	Het
Or11h4b	A	T	14: 50,918,657 (GRCm39)	S145T	probably benign	Het
Or4c58	A	G	2: 89,675,128 (GRCm39)	L63P	probably damaging	Het
Pcna	A	T	2: 132,093,155 (GRCm39)		probably benign	Het
Pdia3	T	A	2: 121,264,129 (GRCm39)	V326E	probably damaging	Het
Phf8	T	A	X: 150,414,356 (GRCm39)	L1002Q	possibly damaging	Het
Rhobtb2	T	C	14: 70,033,365 (GRCm39)	E535G	probably damaging	Het
Rusc2	G	T	4: 43,415,545 (GRCm39)	D284Y	probably damaging	Het
Samd8	A	G	14: 21,825,491 (GRCm39)	Y212C	probably benign	Het
Scyl1	C	T	19: 5,816,224 (GRCm39)	G324S	probably damaging	Het
Sec62	G	A	3: 30,872,996 (GRCm39)	G360R	unknown	Het
Sis	T	C	3: 72,826,947 (GRCm39)		probably null	Het
Slc6a1	T	A	6: 114,285,578 (GRCm39)	I338N	probably damaging	Het
Snrnp200	A	G	2: 127,058,030 (GRCm39)	D264G	probably damaging	Het
Tgm3	G	T	2: 129,871,961 (GRCm39)		probably null	Het
Tnrc6b	T	G	15: 80,764,658 (GRCm39)	L720R	probably damaging	Het
Tspyl4	A	T	10: 34,174,228 (GRCm39)	Q240L	probably damaging	Het
Tube1	G	A	10: 39,016,846 (GRCm39)	V80I	probably damaging	Het
Uap1l1	C	T	2: 25,253,945 (GRCm39)	V304M	probably damaging	Het
Wtap	T	C	17: 13,186,620 (GRCm39)	N309S	probably benign	Het
Zfp518a	G	A	19: 40,903,061 (GRCm39)	G997R	probably damaging	Het
Zfyve26	T	C	12: 79,315,621 (GRCm39)	D1285G	probably benign	Het
Zscan20	G	A	4: 128,482,210 (GRCm39)	T484I	probably damaging	Het

Other mutations in Sash3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R6333:Sash3	UTSW	X	47,248,398 (GRCm39)	missense	probably damaging	1.00
R6335:Sash3	UTSW	X	47,248,398 (GRCm39)	missense	probably damaging	1.00
Z1176:Sash3	UTSW	X	47,243,916 (GRCm39)	nonsense	probably null

Posted On

2015-04-16