Mutagenetix > Incidental Mutation

Incidental Mutation 'R8145:Slamf9'

632723

Institutional Source

Beutler Lab

Gene Symbol

Slamf9

Ensembl Gene

ENSMUSG00000026548

Gene Name

SLAM family member 9

Synonyms

CD84-H1, SF2001, 2310026I04Rik, CD2F-10, Cd2f10

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8145 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

172475358-172478575 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 172476375 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 96 (S96G)

Ref Sequence

ENSEMBL: ENSMUSP00000027830 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027830]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000027830
AA Change: S96G

PolyPhen 2 Score 0.370 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000027830
Gene: ENSMUSG00000026548
AA Change: S96G

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
IG	25	128	2.68e-4	SMART
Blast:IG_like	139	198	7e-8	BLAST
low complexity region	199	216	N/A	INTRINSIC
transmembrane domain	231	253	N/A	INTRINSIC
low complexity region	263	279	N/A	INTRINSIC

Coding Region Coverage

1x: 99.7%
3x: 99.5%
10x: 97.9%
20x: 90.4%

Validation Efficiency

100% (79/79)

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 signaling lymphocytic activation molecule family. The encoded protein is a cell surface molecule that consists of two extracellular immunoglobulin domains, a transmembrane domain and a short cytoplasmic tail that lacks the signal transduction motifs found in other family members. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Apr 2009]

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	T	C	3: 36,998,267	S3039P	probably damaging	Het
5430419D17Rik	G	T	7: 131,296,316	V2088L	unknown	Het
Alg6	A	T	4: 99,746,327	D273V	probably damaging	Het
Ankk1	T	A	9: 49,415,797	H694L	possibly damaging	Het
Asb7	G	T	7: 66,659,948	N173K	probably benign	Het
Atp10b	A	T	11: 43,202,122	Q428L	probably damaging	Het
Bag3	A	G	7: 128,545,888	E409G	possibly damaging	Het
Bpifb2	T	A	2: 153,891,312	V398E	probably damaging	Het
Ccr6	T	C	17: 8,256,113	V50A	probably benign	Het
Cdx1	T	C	18: 61,019,923	N204D	probably damaging	Het
Ciao1	T	C	2: 127,245,806	D203G	possibly damaging	Het
Cldn7	A	T	11: 69,966,066	Y47F	possibly damaging	Het
Col6a1	A	T	10: 76,723,471	D110E	possibly damaging	Het
Cpne6	C	A	14: 55,514,568	Q261K	probably benign	Het
Crebbp	T	C	16: 4,128,525	T497A	probably benign	Het
Cyp2s1	A	G	7: 25,808,042		probably null	Het
Ddx42	A	T	11: 106,240,061	I454F	possibly damaging	Het
Ddx5	G	T	11: 106,782,085	A538E	probably benign	Het
Dnajb1	T	A	8: 83,610,315	V238D	probably damaging	Het
Dntt	A	G	19: 41,055,785	Y463C	probably damaging	Het
Eif4b	A	G	15: 102,092,988	T437A	unknown	Het
Eppk1	T	C	15: 76,106,700	T1994A	possibly damaging	Het
Fbxw15	A	T	9: 109,555,590	C381S	probably benign	Het
Fosl2	T	A	5: 32,153,068	V287D	probably damaging	Het
Gdpd4	A	G	7: 98,040,870	T590A	probably benign	Het
Gm20075	A	T	13: 96,081,141	D63E	probably benign	Het
Gm21994	T	C	2: 150,254,535	K325E	probably benign	Het
Gm49368	A	G	7: 128,113,315	E877G	probably null	Het
Grin2b	C	T	6: 135,732,499	A1350T	probably benign	Het
Gzmk	A	G	13: 113,171,896	L257P	probably damaging	Het
Has2	T	A	15: 56,681,779	K142N	probably benign	Het
Hectd1	T	C	12: 51,784,233	E944G	possibly damaging	Het
Hmcn1	T	C	1: 150,753,660	R949G	probably benign	Het
Hmcn2	A	G	2: 31,423,105	E3442G	probably damaging	Het
Irf9	T	A	14: 55,605,798	C152*	probably null	Het
Itga3	A	G	11: 95,052,464	W936R	probably damaging	Het
Klhl11	G	T	11: 100,463,914	D360E	probably damaging	Het
Lnx1	G	A	5: 74,685,399	T130I	probably benign	Het
Lrrc36	C	T	8: 105,443,764	P82L	probably damaging	Het
Map4k4	T	C	1: 40,000,534	C29R		Het
Mki67	T	C	7: 135,694,336	K2990E	probably benign	Het
Mnt	G	A	11: 74,842,973	A477T	unknown	Het
Mroh9	A	G	1: 163,062,527	S214P	probably benign	Het
Mrps18b	C	A	17: 35,914,401	R94L	possibly damaging	Het
Myh6	T	A	14: 54,953,925	I820F	probably benign	Het
Nphp3	A	G	9: 104,035,851	T943A	probably benign	Het
Olfr548-ps1	A	G	7: 102,542,623	H229R	probably benign	Het
Olfr559	C	A	7: 102,723,730	L253F	probably damaging	Het
Papolb	T	C	5: 142,528,598	D430G	probably benign	Het
Pdzd2	T	C	15: 12,407,372	H334R	probably benign	Het
Pkd1l2	T	A	8: 117,055,003	M768L	probably benign	Het
Pklr	G	T	3: 89,145,488	R547L	probably benign	Het
Pla2g4a	T	C	1: 149,840,643	Y697C	probably benign	Het
Prkcd	T	C	14: 30,602,062	T435A	probably benign	Het
Rfx1	C	T	8: 84,074,028	P86L	probably benign	Het
Rnf19b	C	A	4: 129,084,069	A693D	probably benign	Het
Scn9a	A	G	2: 66,487,410	I1578T	probably damaging	Het
Slc17a8	T	C	10: 89,576,371	D584G	probably benign	Het
Slc1a7	G	A	4: 108,012,276	V513M	probably benign	Het
Slc2a7	C	A	4: 150,168,361	T486K	probably damaging	Het
Slc6a20a	G	A	9: 123,637,000	A592V	probably damaging	Het
Spz1	T	C	13: 92,575,101	D289G	probably benign	Het
Sspo	G	A	6: 48,467,749	C2226Y	possibly damaging	Het
Taf4b	T	G	18: 14,830,028	D608E	probably damaging	Het
Tagap1	A	T	17: 6,956,127	I390N	probably damaging	Het
Tcp11l2	A	G	10: 84,608,616	N430D	probably damaging	Het
Thsd7b	T	C	1: 129,760,299	L649P	probably damaging	Het
Tmprss15	C	T	16: 78,960,585	G956R	probably damaging	Het
Tnc	G	T	4: 64,017,479	Q407K	probably benign	Het
Tti1	C	A	2: 158,007,589	E577*	probably null	Het
Vmn2r79	A	T	7: 87,037,654	M748L	probably benign	Het
Zbtb37	C	T	1: 161,020,084	R451Q	probably damaging	Het
Zfp566	A	T	7: 30,078,360	I132N	probably benign	Het
Zik1	C	T	7: 10,490,003	G389E	probably damaging	Het
Zzef1	A	T	11: 72,908,469	K2382*	probably null	Het

Other mutations in Slamf9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0020:Slamf9	UTSW	1	172475515	missense	possibly damaging	0.84
R1220:Slamf9	UTSW	1	172477331	missense	probably benign	0.20
R1646:Slamf9	UTSW	1	172477340	missense	probably benign	0.00
R2321:Slamf9	UTSW	1	172477413	missense	probably damaging	1.00
R4124:Slamf9	UTSW	1	172476241	missense	probably damaging	1.00
R4826:Slamf9	UTSW	1	172476441	missense	probably benign	0.01
R4831:Slamf9	UTSW	1	172477264	nonsense	probably null
R5010:Slamf9	UTSW	1	172476213	missense	possibly damaging	0.80
R5223:Slamf9	UTSW	1	172476232	missense	possibly damaging	0.89
R5864:Slamf9	UTSW	1	172476466	missense	probably benign	0.25
R7480:Slamf9	UTSW	1	172477473	missense	probably damaging	1.00
R9045:Slamf9	UTSW	1	172477371	missense	probably damaging	0.96
R9747:Slamf9	UTSW	1	172478215	missense	unknown
X0054:Slamf9	UTSW	1	172478101	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GTCCTGCAAGAGTCTATCAACC -3'
(R):5'- ACTACAAGCAGTCTGCCTTCC -3'

Sequencing Primer
(F):5'- GCAAGAGTCTATCAACCTCTCTCTGG -3'
(R):5'- AGCAGTCTGCCTTCCAGTTTCAG -3'

Posted On

2020-06-30