Mutagenetix > Incidental Mutation

Incidental Mutation 'R1646:Slamf9'

173856

Institutional Source

Beutler Lab

Gene Symbol

Slamf9

Ensembl Gene

ENSMUSG00000026548

Gene Name

SLAM family member 9

Synonyms

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

MMRRC Submission

039682-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1646 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

172302927-172305976 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 172304907 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 174 (T174A)

Ref Sequence

ENSEMBL: ENSMUSP00000027830 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027830] [ENSMUST00000052629] [ENSMUST00000111235] [ENSMUST00000127052] [ENSMUST00000127482] [ENSMUST00000135267]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000027830
AA Change: T174A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000027830
Gene: ENSMUSG00000026548
AA Change: T174A

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: ENSMUST00000111235

SMART Domains

Protein: ENSMUSP00000106866
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

noncoding transcript
Transcript: ENSMUST00000192784

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140814

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194187

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

Meta Mutation Damage Score

0.0814

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.1%
20x: 91.8%

Validation Efficiency

96% (69/72)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akna	T	G	4: 63,302,129 (GRCm39)	I581L	probably benign	Het
Cacnb4	A	G	2: 52,364,912 (GRCm39)	I117T	possibly damaging	Het
Capn1	A	T	19: 6,047,760 (GRCm39)	F434L	probably benign	Het
Cbs	T	C	17: 31,832,169 (GRCm39)	T547A	probably benign	Het
Col6a5	A	T	9: 105,739,948 (GRCm39)	L2557*	probably null	Het
Dach1	A	G	14: 98,406,550 (GRCm39)	S66P	unknown	Het
Ddx31	T	C	2: 28,782,532 (GRCm39)	V625A	probably benign	Het
Dmxl1	T	G	18: 50,095,328 (GRCm39)	V2969G	probably damaging	Het
Eapp	T	A	12: 54,732,745 (GRCm39)	K122*	probably null	Het
Elapor1	A	T	3: 108,370,306 (GRCm39)	S751T	probably damaging	Het
Epb41l5	G	T	1: 119,477,752 (GRCm39)		probably benign	Het
Fat1	T	C	8: 45,471,079 (GRCm39)	S1628P	probably damaging	Het
Fgfr2	T	A	7: 129,844,374 (GRCm39)	E37V	probably damaging	Het
Fgfr4	A	T	13: 55,313,777 (GRCm39)	N529Y	probably damaging	Het
Fsip2	A	T	2: 82,808,861 (GRCm39)	T1727S	probably benign	Het
Gak	A	T	5: 108,750,720 (GRCm39)	S397T	probably damaging	Het
Gm6040	T	A	8: 21,407,113 (GRCm39)	I36F	possibly damaging	Het
Grhl1	A	G	12: 24,661,860 (GRCm39)	D513G	possibly damaging	Het
Gstt1	T	A	10: 75,619,940 (GRCm39)	D219V	possibly damaging	Het
Hcfc2	T	G	10: 82,536,861 (GRCm39)	V91G	probably damaging	Het
Hells	A	T	19: 38,956,227 (GRCm39)	I808L	probably benign	Het
Icmt	T	A	4: 152,384,172 (GRCm39)	V110E	possibly damaging	Het
Ilrun	A	G	17: 28,012,934 (GRCm39)	S88P	probably damaging	Het
Iqca1	C	T	1: 90,067,760 (GRCm39)	V164M	probably damaging	Het
Klri1	G	A	6: 129,680,299 (GRCm39)	P119S	probably benign	Het
Krt71	C	A	15: 101,647,199 (GRCm39)		probably null	Het
Lpin1	A	G	12: 16,623,659 (GRCm39)		probably null	Het
Macir	A	T	1: 97,573,531 (GRCm39)	I178N	probably damaging	Het
Metap2	T	C	10: 93,706,059 (GRCm39)	H241R	probably damaging	Het
Myh15	A	G	16: 49,015,931 (GRCm39)	Y1869C	probably damaging	Het
Myo1h	G	A	5: 114,455,693 (GRCm39)	G59E	possibly damaging	Het
Ncam2	T	G	16: 81,262,594 (GRCm39)		probably benign	Het
Npat	T	C	9: 53,466,434 (GRCm39)	V241A	probably benign	Het
Npbwr1	C	A	1: 5,987,473 (GRCm39)	V14L	probably benign	Het
Nup37	T	A	10: 88,014,096 (GRCm39)	V323E	possibly damaging	Het
Or11g27	A	T	14: 50,771,040 (GRCm39)	Q57L	probably benign	Het
Or5m9b	A	G	2: 85,905,960 (GRCm39)	N292S	probably damaging	Het
Or5p59	C	T	7: 107,702,798 (GRCm39)	T94I	probably benign	Het
Or7a35	C	A	10: 78,853,340 (GRCm39)	Y61*	probably null	Het
Pdlim4	A	T	11: 53,947,080 (GRCm39)	L132Q	possibly damaging	Het
Ptcd3	T	C	6: 71,875,379 (GRCm39)	D201G	probably benign	Het
Ptk7	A	T	17: 46,897,223 (GRCm39)	F370I	probably benign	Het
Pus7l	T	C	15: 94,431,517 (GRCm39)	N371D	probably benign	Het
Pzp	G	A	6: 128,480,518 (GRCm39)	A589V	probably benign	Het
Rasef	T	A	4: 73,652,786 (GRCm39)	R572W	probably damaging	Het
Reep5	T	C	18: 34,482,712 (GRCm39)	T166A	probably benign	Het
Rhov	A	G	2: 119,101,501 (GRCm39)	V35A	probably damaging	Het
Ripk4	C	T	16: 97,545,097 (GRCm39)	G517R	probably damaging	Het
Rnasel	A	G	1: 153,630,800 (GRCm39)	T439A	probably damaging	Het
Slc12a9	A	G	5: 137,321,411 (GRCm39)	L414P	probably damaging	Het
Slf1	G	A	13: 77,214,767 (GRCm39)	R640*	probably null	Het
Slfn8	G	T	11: 82,907,712 (GRCm39)	P277Q	probably damaging	Het
Stpg2	T	A	3: 139,125,463 (GRCm39)		probably benign	Het
Tm9sf3	A	C	19: 41,211,618 (GRCm39)	N408K	possibly damaging	Het
Trio	A	G	15: 27,758,433 (GRCm39)	V2049A	possibly damaging	Het
Ttn	A	T	2: 76,645,077 (GRCm39)	I11180N	probably damaging	Het
Ush2a	T	C	1: 188,148,018 (GRCm39)	C982R	probably damaging	Het
Usp36	C	T	11: 118,164,392 (GRCm39)	V207M	probably damaging	Het
Uvrag	T	C	7: 98,767,431 (GRCm39)	T67A	probably damaging	Het
Vasp	G	A	7: 18,994,903 (GRCm39)		probably benign	Het
Vmn2r115	T	C	17: 23,578,513 (GRCm39)	F662S	probably damaging	Het
Vmn2r54	A	T	7: 12,366,434 (GRCm39)	C167S	probably damaging	Het
Vmn2r71	C	A	7: 85,270,476 (GRCm39)	N547K	probably damaging	Het
Wasf2	A	G	4: 132,903,902 (GRCm39)	I37V	probably benign	Het
Wwc2	T	C	8: 48,295,937 (GRCm39)	E1111G	unknown	Het
Zfp317	A	G	9: 19,558,608 (GRCm39)	Y274C	probably damaging	Het
Zhx3	T	C	2: 160,623,195 (GRCm39)	Y324C	probably damaging	Het
Zzef1	T	C	11: 72,754,862 (GRCm39)		probably null	Het

Other mutations in Slamf9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0020:Slamf9	UTSW	1	172,303,082 (GRCm39)	missense	possibly damaging	0.84
R1220:Slamf9	UTSW	1	172,304,898 (GRCm39)	missense	probably benign	0.20
R2321:Slamf9	UTSW	1	172,304,980 (GRCm39)	missense	probably damaging	1.00
R4124:Slamf9	UTSW	1	172,303,808 (GRCm39)	missense	probably damaging	1.00
R4826:Slamf9	UTSW	1	172,304,008 (GRCm39)	missense	probably benign	0.01
R4831:Slamf9	UTSW	1	172,304,831 (GRCm39)	nonsense	probably null
R5010:Slamf9	UTSW	1	172,303,780 (GRCm39)	missense	possibly damaging	0.80
R5223:Slamf9	UTSW	1	172,303,799 (GRCm39)	missense	possibly damaging	0.89
R5864:Slamf9	UTSW	1	172,304,033 (GRCm39)	missense	probably benign	0.25
R7480:Slamf9	UTSW	1	172,305,040 (GRCm39)	missense	probably damaging	1.00
R8145:Slamf9	UTSW	1	172,303,942 (GRCm39)	missense	probably benign	0.37
R9045:Slamf9	UTSW	1	172,304,938 (GRCm39)	missense	probably damaging	0.96
R9747:Slamf9	UTSW	1	172,305,782 (GRCm39)	missense	unknown
X0054:Slamf9	UTSW	1	172,305,668 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AACAGCTCTCGAAGCCTTTATTCCC -3'
(R):5'- TTGCACAGGCTCAGGAATGGTG -3'

Sequencing Primer
(F):5'- TGTCTCAGCAGATCCTCAGG -3'
(R):5'- CAGGAATGGTGTCTTGGGC -3'

Posted On

2014-04-24