Mutagenetix > Incidental Mutation

Incidental Mutation 'R4831:Slamf9'

372782

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

042447-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4831 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

172475358-172478575 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 172477264 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 148 (C148*)

Ref Sequence

ENSEMBL: ENSMUSP00000027830 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027830] [ENSMUST00000052629] [ENSMUST00000127052] [ENSMUST00000127482] [ENSMUST00000135267]

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000027830
AA Change: C148*

SMART Domains

Protein: ENSMUSP00000027830
Gene: ENSMUSG00000026548
AA Change: C148*

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

Predicted Effect

probably benign
Transcript: ENSMUST00000052629

SMART Domains

Protein: ENSMUSP00000058275
Gene: ENSMUSG00000037995

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
IG	26	131	6.81e-6	SMART
IGc2	149	213	4.92e-12	SMART
IG	233	320	8.64e-8	SMART
IG_like	329	412	4.3e1	SMART
IGc2	431	493	9.12e-7	SMART
FN3	508	593	1.82e-4	SMART
FN3	624	705	7.01e-6	SMART
transmembrane domain	737	759	N/A	INTRINSIC
low complexity region	785	800	N/A	INTRINSIC
low complexity region	823	834	N/A	INTRINSIC
low complexity region	909	930	N/A	INTRINSIC
low complexity region	942	953	N/A	INTRINSIC
low complexity region	1143	1165	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000127052

SMART Domains

Protein: ENSMUSP00000123401
Gene: ENSMUSG00000037995

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Blast:IG	26	109	6e-55	BLAST
SCOP:d1biha2	28	108	6e-8	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000127482

SMART Domains

Protein: ENSMUSP00000117854
Gene: ENSMUSG00000037995

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
IG	26	131	6.81e-6	SMART
IGc2	149	213	4.92e-12	SMART
IG	233	320	8.64e-8	SMART
IG_like	329	412	4.3e1	SMART
IGc2	431	493	9.12e-7	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128638

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132141

Predicted Effect

probably benign
Transcript: ENSMUST00000135267

SMART Domains

Protein: ENSMUSP00000116948
Gene: ENSMUSG00000037995

Domain	Start	End	E-Value	Type
IG_like	4	68	3.29e1	SMART
IGc2	86	148	3.03e-12	SMART
low complexity region	156	168	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140814

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192784

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194187

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.3%

Validation Efficiency

99% (96/97)

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: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810408A11Rik	C	T	11: 69,900,577	V59I	possibly damaging	Het
4930544M13Rik	T	G	13: 114,607,647		noncoding transcript	Het
Abca13	A	T	11: 9,542,077	K4373*	probably null	Het
Abtb2	A	T	2: 103,683,475	T410S	probably benign	Het
Adamts13	T	C	2: 26,983,130		probably null	Het
Ahnak2	C	G	12: 112,775,749	D630H	probably damaging	Het
Aox3	T	C	1: 58,152,566	S426P	probably damaging	Het
Armc4	G	T	18: 7,222,564	H568Q	possibly damaging	Het
Atxn10	C	T	15: 85,387,059	S266F	probably benign	Het
B4galnt4	G	T	7: 141,067,721	M407I	probably damaging	Het
B4galnt4	T	A	7: 141,064,557		probably null	Het
Bclaf1	T	A	10: 20,322,126		probably benign	Het
C4b	C	T	17: 34,736,890		probably null	Het
Cdc42bpg	T	C	19: 6,311,335	F297S	probably damaging	Het
Cdh10	A	T	15: 19,013,578	T755S	probably benign	Het
Ceacam12	T	A	7: 18,077,380		probably null	Het
Cfap65	C	A	1: 74,917,295	V1042F	possibly damaging	Het
Cfap77	T	C	2: 28,985,832	I89V	probably benign	Het
Cfh	T	C	1: 140,086,387	D688G	probably benign	Het
Clip1	C	G	5: 123,583,601	A1182P	probably damaging	Het
Cyp2b10	T	A	7: 25,915,496	Y309*	probably null	Het
Dcaf5	T	C	12: 80,339,084	E756G	probably benign	Het
Dctn1	A	T	6: 83,199,771	Q1231L	possibly damaging	Het
Dennd1c	T	A	17: 57,066,428	R682*	probably null	Het
Eml6	C	A	11: 29,777,052	E1319*	probably null	Het
Erap1	T	C	13: 74,690,647	I904T	probably damaging	Het
Eri1	A	T	8: 35,476,519	I207N	possibly damaging	Het
Farp1	G	A	14: 121,277,057	A933T	probably damaging	Het
Fcna	T	A	2: 25,625,341	Q210L	probably benign	Het
Fhad1	A	T	4: 141,916,067		probably null	Het
Fut8	T	G	12: 77,393,829	Y197D	probably damaging	Het
Garem1	G	A	18: 21,129,768	T663I	probably benign	Het
Gfm2	T	C	13: 97,165,038	S450P	probably damaging	Het
Gstk1	T	G	6: 42,246,004		probably benign	Het
Helz2	C	T	2: 181,237,417	A803T	probably damaging	Het
Igsf9	T	A	1: 172,491,888	I280N	probably damaging	Het
Klhl10	A	G	11: 100,445,843	K219E	probably benign	Het
L3mbtl4	T	A	17: 68,461,563	V222D	probably damaging	Het
Lrrc9	A	T	12: 72,499,679	N1214Y	probably damaging	Het
Ltbp2	C	T	12: 84,793,640	E1051K	possibly damaging	Het
Mettl17	T	C	14: 51,884,983	F13S	probably benign	Het
Mettl24	C	A	10: 40,683,417	A21D	possibly damaging	Het
Mfsd6l	T	A	11: 68,556,505	C61S	probably benign	Het
Mob4	T	G	1: 55,152,740	D204E	probably benign	Het
Mtus1	C	G	8: 41,083,152	R509T	probably damaging	Het
Nlrp4a	T	A	7: 26,450,419	F484I	possibly damaging	Het
Nsrp1	T	C	11: 77,050,618	N88S	probably benign	Het
Olfr117	T	A	17: 37,660,078	H85L	probably benign	Het
Olfr623	T	C	7: 103,660,471	T260A	probably benign	Het
Olfr791	T	A	10: 129,526,580	Y118N	probably damaging	Het
Olfr975	C	T	9: 39,950,112	V220I	probably benign	Het
Parg	A	G	14: 32,202,451	N69S	probably benign	Het
Pcdh9	A	C	14: 93,887,941	N264K	probably damaging	Het
Pcdhb22	G	T	18: 37,520,562	L694F	probably damaging	Het
Pcnt	T	C	10: 76,412,501	E928G	probably damaging	Het
Pdzk1	G	A	3: 96,868,435	G373D	probably benign	Het
Pea15a	A	G	1: 172,199,173	I89T	probably damaging	Het
Phc1	T	A	6: 122,337,005		probably benign	Het
Pikfyve	T	A	1: 65,196,741	C191S	probably damaging	Het
Pitpnm1	T	A	19: 4,108,130	D573E	probably damaging	Het
Pld5	A	G	1: 176,274,884		probably benign	Het
Plscr2	A	T	9: 92,291,077	N89I	possibly damaging	Het
Pm20d2	A	C	4: 33,179,293	N315K	probably damaging	Het
Pnpla1	T	A	17: 28,878,544	M228K	probably benign	Het
Prim2	T	C	1: 33,670,136		probably benign	Het
Ralgapa2	A	G	2: 146,405,067		probably benign	Het
Rgs22	G	T	15: 36,050,148	H719N	probably benign	Het
Ror2	C	T	13: 53,118,844	D250N	probably damaging	Het
Saal1	A	G	7: 46,699,647	V281A	probably benign	Het
Selenof	A	T	3: 144,590,650	K94N	probably damaging	Het
Slc4a7	T	C	14: 14,772,699		probably null	Het
Slco1a5	A	G	6: 142,234,705	I657T	probably benign	Het
St3gal2	A	T	8: 110,957,848	H46L	probably benign	Het
Sucnr1	T	G	3: 60,086,648	M199R	probably damaging	Het
Taok1	T	A	11: 77,553,674	E525V	probably null	Het
Tbc1d10c	T	A	19: 4,185,446	E298V	probably damaging	Het
Tll2	T	A	19: 41,130,512	H259L	probably damaging	Het
Tpcn1	A	T	5: 120,553,489	F300Y	probably damaging	Het
Uba6	T	A	5: 86,131,338	I642L	probably benign	Het
Ubqln5	T	A	7: 104,129,622		probably benign	Het
Vmn1r27	A	T	6: 58,215,842	L9Q	possibly damaging	Het
Vmn2r100	C	T	17: 19,521,410	T128I	probably benign	Het
Vmn2r109	C	T	17: 20,541,232	G621D	probably benign	Het
Vmn2r49	C	T	7: 9,986,425	D380N	probably benign	Het
Vps13a	C	T	19: 16,677,992	V1891I	probably benign	Het
Wbp2	G	T	11: 116,080,637	Y147*	probably null	Het
Wdr46	T	A	17: 33,941,836	N191K	probably benign	Het
Wdr46	T	C	17: 33,949,399		probably benign	Het
Wnt2	A	C	6: 18,023,286	F121L	probably benign	Het
Xpnpep1	T	A	19: 53,014,622	D100V	probably benign	Het
Xpo4	T	C	14: 57,590,102	Y879C	probably damaging	Het
Zswim4	A	T	8: 84,212,319	V978D	probably damaging	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
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
R8145:Slamf9	UTSW	1	172476375	missense	probably benign	0.37
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'- GGACCCTGCAACCACAATTTATG -3'
(R):5'- TGCGACGGGAACTGATGTTG -3'

Sequencing Primer
(F):5'- GACCCAACTCTGGAATGT -3'
(R):5'- AACTGATGTTGCTGATGGGG -3'

Posted On

2016-03-01