Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02792:Slamf8'

359813

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slamf8

Ensembl Gene

ENSMUSG00000053318

Gene Name

SLAM family member 8

Synonyms

5830408F06Rik, SBBI42, Blame

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02792

Quality Score

Status

Chromosome

Chromosomal Location

172409325-172418135 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 172415697 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 47 (I47T)

Ref Sequence

ENSEMBL: ENSMUSP00000067527 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000065679]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000065679
AA Change: I47T

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

SMART Domains

Protein: ENSMUSP00000067527
Gene: ENSMUSG00000053318
AA Change: I47T

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Blast:IG	28	120	7e-57	BLAST
Blast:IG_like	136	215	3e-35	BLAST
SCOP:d1iray2	143	213	3e-4	SMART
transmembrane domain	234	256	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193843

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 member of the CD2 family of cell surface proteins involved in lymphocyte activation. These proteins are characterized by Ig domains. This protein is expressed in lymphoid tissues, and studies of a similar protein in mouse suggest that it may function during B cell lineage commitment. The gene is found in a region of chromosome 1 containing many CD2 genes. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased Nox2 activity in macrophage. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700067P10Rik	G	A	17: 48,401,107 (GRCm39)	V131M	probably benign	Het
Abca6	A	T	11: 110,079,507 (GRCm39)	C1216S	probably damaging	Het
Acly	T	C	11: 100,369,236 (GRCm39)	K1018E	probably damaging	Het
Acsl5	G	A	19: 55,282,163 (GRCm39)		probably null	Het
Adgrb1	C	A	15: 74,419,471 (GRCm39)	L771I	probably damaging	Het
Adh7	A	T	3: 137,929,498 (GRCm39)	K89I	probably damaging	Het
Adora2b	A	T	11: 62,156,309 (GRCm39)	I253F	possibly damaging	Het
Akna	G	A	4: 63,295,943 (GRCm39)	P975S	possibly damaging	Het
Alg9	T	C	9: 50,754,048 (GRCm39)	L576P	possibly damaging	Het
Arhgap20	A	G	9: 51,761,218 (GRCm39)	E1023G	possibly damaging	Het
Astn2	A	T	4: 65,563,058 (GRCm39)	S908T	probably benign	Het
Atp1a4	C	T	1: 172,054,866 (GRCm39)		probably null	Het
Cabin1	T	C	10: 75,582,573 (GRCm39)	Y281C	probably damaging	Het
Cdc42bpb	G	T	12: 111,265,995 (GRCm39)	F1312L	probably benign	Het
Cfap65	A	C	1: 74,966,337 (GRCm39)	F330C	probably damaging	Het
Col27a1	C	T	4: 63,233,820 (GRCm39)	P689S	unknown	Het
Col4a3	A	T	1: 82,696,524 (GRCm39)	K1643N	probably damaging	Het
Dop1b	T	A	16: 93,598,460 (GRCm39)	V1875D	possibly damaging	Het
Eftud2	A	G	11: 102,761,082 (GRCm39)		probably benign	Het
Ergic3	C	A	2: 155,859,770 (GRCm39)	T357K	probably damaging	Het
Glra1	A	T	11: 55,427,226 (GRCm39)	D36E	probably damaging	Het
Gpatch1	A	G	7: 35,001,018 (GRCm39)	Y330H	probably damaging	Het
Hmcn2	T	C	2: 31,236,602 (GRCm39)	S382P	probably damaging	Het
Kat6a	G	A	8: 23,428,316 (GRCm39)	E1224K	probably damaging	Het
Klk13	A	G	7: 43,370,838 (GRCm39)	E29G	possibly damaging	Het
Klra9	T	C	6: 130,165,643 (GRCm39)	D124G	probably benign	Het
Lrmda	T	C	14: 22,069,978 (GRCm39)		probably null	Het
Ltbp1	G	A	17: 75,589,989 (GRCm39)	V539M	probably damaging	Het
Ngfr	A	C	11: 95,462,687 (GRCm39)	L317R	probably damaging	Het
Nlrp6	C	A	7: 140,502,348 (GRCm39)	H151Q	probably damaging	Het
Nnt	A	G	13: 119,494,182 (GRCm39)	L633P	probably damaging	Het
Nxpe3	C	T	16: 55,686,535 (GRCm39)	V158M	probably damaging	Het
Or11i1	T	C	3: 106,729,456 (GRCm39)	T140A	probably damaging	Het
Or2d36	T	C	7: 106,747,425 (GRCm39)	F301L	probably benign	Het
Or7g16	C	T	9: 18,727,254 (GRCm39)	S112N	probably benign	Het
Pla2g4f	T	C	2: 120,133,850 (GRCm39)	Y517C	probably damaging	Het
Poc1a	A	T	9: 106,172,393 (GRCm39)	I207F	possibly damaging	Het
Polr2a	A	G	11: 69,636,938 (GRCm39)	S338P	probably damaging	Het
Ptprz1	T	C	6: 22,959,722 (GRCm39)	V73A	probably damaging	Het
Relb	A	T	7: 19,347,789 (GRCm39)	L281Q	probably damaging	Het
Rrp8	A	T	7: 105,383,018 (GRCm39)	L382*	probably null	Het
Setd1a	C	T	7: 127,390,522 (GRCm39)	S523F	unknown	Het
Slc16a4	G	A	3: 107,206,193 (GRCm39)	A88T	probably benign	Het
Sox6	C	T	7: 115,140,884 (GRCm39)	M532I	probably benign	Het
Tcp11l1	T	A	2: 104,512,165 (GRCm39)	Y489F	probably benign	Het
Tdrd6	T	G	17: 43,935,918 (GRCm39)	D1710A	probably benign	Het
Trim58	C	T	11: 58,531,292 (GRCm39)		probably benign	Het
Vangl1	A	T	3: 102,070,739 (GRCm39)	I399N	probably damaging	Het
Vmn1r201	T	C	13: 22,659,014 (GRCm39)	L76P	probably damaging	Het
Vmn1r58	T	C	7: 5,414,228 (GRCm39)	M1V	probably null	Het
Wdfy4	T	C	14: 32,817,262 (GRCm39)	I1561V	probably benign	Het
Xkr9	A	G	1: 13,771,027 (GRCm39)	D181G	probably damaging	Het
Zfp318	T	C	17: 46,720,104 (GRCm39)	F1101L	probably damaging	Het
Zfpm2	C	A	15: 40,966,409 (GRCm39)	Q833K	probably benign	Het

Other mutations in Slamf8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01625:Slamf8	APN	1	172,410,049 (GRCm39)	missense	probably damaging	1.00
IGL03126:Slamf8	APN	1	172,411,736 (GRCm39)	missense	possibly damaging	0.73
R1635:Slamf8	UTSW	1	172,412,186 (GRCm39)	missense	probably damaging	1.00
R1791:Slamf8	UTSW	1	172,412,087 (GRCm39)	nonsense	probably null
R1792:Slamf8	UTSW	1	172,415,526 (GRCm39)	missense	possibly damaging	0.71
R4785:Slamf8	UTSW	1	172,411,781 (GRCm39)	missense	probably damaging	1.00
R6743:Slamf8	UTSW	1	172,417,965 (GRCm39)	critical splice donor site	probably null
R6974:Slamf8	UTSW	1	172,415,590 (GRCm39)	missense	probably damaging	1.00
R7222:Slamf8	UTSW	1	172,411,775 (GRCm39)	missense	possibly damaging	0.73
R7663:Slamf8	UTSW	1	172,415,605 (GRCm39)	missense	possibly damaging	0.92
R7802:Slamf8	UTSW	1	172,415,677 (GRCm39)	missense	probably damaging	0.99
R9748:Slamf8	UTSW	1	172,411,800 (GRCm39)	missense	probably benign	0.17

Posted On

2015-12-18