Mutagenetix > Incidental Mutation

Incidental Mutation 'R7176:Slamf6'

558592

Institutional Source

Beutler Lab

Gene Symbol

Slamf6

Ensembl Gene

ENSMUSG00000015314

Gene Name

SLAM family member 6

Synonyms

KAL1b, NTB-A, KAL1, Ly108, SF2000

MMRRC Submission

045267-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.058) question?

Stock #

R7176 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

171745002-171776525 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 171761858 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Threonine at position 93 (N93T)

Ref Sequence

ENSEMBL: ENSMUSP00000141448 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000171330] [ENSMUST00000194182] [ENSMUST00000194561] [ENSMUST00000195656]

AlphaFold

Q9ET39

Predicted Effect

probably benign
Transcript: ENSMUST00000171330
AA Change: N93T

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000130610
Gene: ENSMUSG00000015314
AA Change: N93T

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
low complexity region	28	37	N/A	INTRINSIC
IG	39	142	1.49e-2	SMART
low complexity region	145	161	N/A	INTRINSIC
Blast:IG_like	162	226	7e-16	BLAST
transmembrane domain	240	262	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000194182

SMART Domains

Protein: ENSMUSP00000142242
Gene: ENSMUSG00000015314

Domain	Start	End	E-Value	Type
low complexity region	22	36	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000194561
AA Change: N93T

PolyPhen 2 Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000141944
Gene: ENSMUSG00000015314
AA Change: N93T

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
low complexity region	28	37	N/A	INTRINSIC
IG	39	142	1.49e-2	SMART
low complexity region	145	161	N/A	INTRINSIC
Blast:IG_like	162	226	5e-16	BLAST
transmembrane domain	240	262	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000195656
AA Change: N93T

PolyPhen 2 Score 0.126 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000141448
Gene: ENSMUSG00000015314
AA Change: N93T

Domain	Start	End	E-Value	Type
low complexity region	28	37	N/A	INTRINSIC
IG	39	142	5.9e-5	SMART
low complexity region	145	161	N/A	INTRINSIC
Blast:IG_like	162	226	8e-16	BLAST
transmembrane domain	240	262	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

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 is a type I transmembrane protein, belonging to the CD2 subfamily of the immunoglobulin superfamily. This encoded protein is expressed on Natural killer (NK), T, and B lymphocytes. It undergoes tyrosine phosphorylation and associates with the Src homology 2 domain-containing protein (SH2D1A) as well as with SH2 domain-containing phosphatases (SHPs). It functions as a coreceptor in the process of NK cell activation. It can also mediate inhibitory signals in NK cells from X-linked lymphoproliferative patients. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, May 2010]
PHENOTYPE: Mice homozygous for one null allele show no overt phenotype. Mice homozygous for another null allele show impaired IL-4 production by CD4+ T cells, reduced inflammatory response to L. mexicana infection, high susceptibility to S. typhimurium infection, and defective neutrophil bactericidal activity. [provided by MGI curators]

Allele List at MGI

All alleles(3) : Targeted(3)

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc10	G	T	17: 46,635,203 (GRCm39)	H267N	probably benign	Het
Abtb2	A	G	2: 103,539,720 (GRCm39)	D695G	probably benign	Het
Adam21	C	T	12: 81,607,022 (GRCm39)	D247N	possibly damaging	Het
Adnp	T	C	2: 168,024,578 (GRCm39)	N906D	probably benign	Het
Ankrd17	A	T	5: 90,416,594 (GRCm39)	H1079Q	probably damaging	Het
Aqp3	T	A	4: 41,095,202 (GRCm39)	N60Y	probably damaging	Het
Art4	T	G	6: 136,834,166 (GRCm39)	T26P	probably benign	Het
Arvcf	T	C	16: 18,218,477 (GRCm39)	L553P	probably damaging	Het
Asxl1	T	A	2: 153,243,908 (GRCm39)	I1487N	probably damaging	Het
Capn3	A	T	2: 120,334,973 (GRCm39)	Y820F	possibly damaging	Het
Catip	A	G	1: 74,401,941 (GRCm39)	T39A	probably damaging	Het
Ccdc168	A	T	1: 44,099,506 (GRCm39)	S531T	probably benign	Het
Ccdc18	T	A	5: 108,315,972 (GRCm39)	C481S	probably benign	Het
Ccnf	A	G	17: 24,468,376 (GRCm39)	I7T	possibly damaging	Het
Cd86	CA	CAA	16: 36,426,917 (GRCm39)		probably null	Het
Cdkl4	A	T	17: 80,851,221 (GRCm39)	Y160*	probably null	Het
Celsr3	C	T	9: 108,722,961 (GRCm39)	P2783S	probably benign	Het
Cisd3	A	T	11: 97,576,959 (GRCm39)	D11V	probably benign	Het
Daxx	A	T	17: 34,132,292 (GRCm39)	H512L	unknown	Het
Dip2b	A	G	15: 100,067,199 (GRCm39)	H567R	probably damaging	Het
Dnah7c	C	A	1: 46,469,969 (GRCm39)	A18E	probably benign	Het
Eif3d	A	T	15: 77,847,434 (GRCm39)	V268D	probably damaging	Het
Eif4g3	T	A	4: 137,898,497 (GRCm39)	H1089Q	probably damaging	Het
Fmnl2	A	G	2: 53,004,162 (GRCm39)	M625V	unknown	Het
Foxn1	T	C	11: 78,251,693 (GRCm39)	R513G	possibly damaging	Het
Gemin5	C	T	11: 58,056,828 (GRCm39)	V134I	probably benign	Het
Gtf2h3	A	G	5: 124,728,433 (GRCm39)	R161G	probably damaging	Het
Ice1	A	G	13: 70,772,525 (GRCm39)		probably null	Het
Il1rl1	T	C	1: 40,485,766 (GRCm39)	Y306H	probably damaging	Het
Kbtbd7	A	T	14: 79,665,194 (GRCm39)	E342V	possibly damaging	Het
Kyat3	A	T	3: 142,443,600 (GRCm39)	K404N	possibly damaging	Het
Lins1	T	C	7: 66,363,553 (GRCm39)	W483R	probably benign	Het
Lipo2	A	G	19: 33,723,207 (GRCm39)	I194T	possibly damaging	Het
Mcm8	G	T	2: 132,661,992 (GRCm39)	A137S	probably benign	Het
Mdm1	C	A	10: 117,978,770 (GRCm39)	Q12K	probably damaging	Het
Mrgprb5	C	A	7: 47,818,059 (GRCm39)	L225F	possibly damaging	Het
Myh11	T	A	16: 14,033,690 (GRCm39)	H1068L		Het
Ngef	A	T	1: 87,408,417 (GRCm39)	V550E	possibly damaging	Het
Nrg1	G	A	8: 32,458,064 (GRCm39)	Q84*	probably null	Het
Obp2b	G	T	2: 25,627,760 (GRCm39)	V59L	possibly damaging	Het
Ocln	C	A	13: 100,651,590 (GRCm39)	G327C	probably damaging	Het
Ocln	A	C	13: 100,651,591 (GRCm39)	N326K	probably benign	Het
Or10ag55-ps1	C	T	2: 87,115,378 (GRCm39)	A248V	probably damaging	Het
Otogl	T	C	10: 107,614,772 (GRCm39)	D1960G	probably damaging	Het
Pik3c2a	T	C	7: 115,987,331 (GRCm39)	D530G	possibly damaging	Het
Plod1	A	T	4: 147,997,744 (GRCm39)	M655K	probably benign	Het
Ppp4r3b	A	G	11: 29,148,904 (GRCm39)	N449D	probably damaging	Het
Ppp6r3	G	T	19: 3,521,989 (GRCm39)	T563K	probably damaging	Het
Prepl	T	A	17: 85,376,454 (GRCm39)	L533F	probably benign	Het
Rbl1	G	A	2: 157,030,245 (GRCm39)	R421W	probably damaging	Het
Rrp15	G	A	1: 186,453,730 (GRCm39)	S239L	probably benign	Het
Runx2	G	A	17: 45,125,079 (GRCm39)	P80L	probably damaging	Het
Sbno1	A	G	5: 124,530,944 (GRCm39)	S815P	probably benign	Het
Scn7a	G	A	2: 66,506,632 (GRCm39)	T1419I	probably damaging	Het
Setdb1	A	G	3: 95,244,458 (GRCm39)		probably null	Het
Shpk	A	G	11: 73,113,814 (GRCm39)	H409R	probably benign	Het
Slc27a4	A	G	2: 29,701,238 (GRCm39)	N343S	probably benign	Het
Slc35g1	T	A	19: 38,391,771 (GRCm39)	V351E	probably damaging	Het
Smcr8	A	T	11: 60,669,772 (GRCm39)	I307F	probably damaging	Het
Spats2l	T	C	1: 57,977,077 (GRCm39)	I305T	possibly damaging	Het
Speer4c1	T	C	5: 15,916,536 (GRCm39)	T144A	probably benign	Het
Tbl3	G	A	17: 24,919,732 (GRCm39)	T774I	probably benign	Het
Ush2a	A	G	1: 188,269,925 (GRCm39)	H1724R	probably benign	Het
Vcan	A	G	13: 89,837,055 (GRCm39)	S2830P	probably benign	Het
Vmn2r27	T	A	6: 124,168,995 (GRCm39)	I712F	probably benign	Het
Wdr59	T	G	8: 112,219,388 (GRCm39)	Q223P		Het
Zfp28	T	A	7: 6,386,456 (GRCm39)	C22S	possibly damaging	Het
Zfp536	T	G	7: 37,180,276 (GRCm39)		probably null	Het

Other mutations in Slamf6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00964:Slamf6	APN	1	171,745,347 (GRCm39)	missense	probably null	0.27
IGL01011:Slamf6	APN	1	171,765,666 (GRCm39)	missense	probably benign	0.19
P0016:Slamf6	UTSW	1	171,764,068 (GRCm39)	missense	probably damaging	0.97
R1565:Slamf6	UTSW	1	171,761,975 (GRCm39)	missense	possibly damaging	0.53
R1763:Slamf6	UTSW	1	171,770,154 (GRCm39)	intron	probably benign
R1774:Slamf6	UTSW	1	171,770,154 (GRCm39)	intron	probably benign
R1993:Slamf6	UTSW	1	171,761,776 (GRCm39)	missense	possibly damaging	0.74
R2155:Slamf6	UTSW	1	171,765,575 (GRCm39)	missense	probably damaging	0.99
R2328:Slamf6	UTSW	1	171,761,818 (GRCm39)	missense	probably benign	0.00
R4693:Slamf6	UTSW	1	171,761,680 (GRCm39)	nonsense	probably null
R5062:Slamf6	UTSW	1	171,764,100 (GRCm39)	missense	possibly damaging	0.93
R5172:Slamf6	UTSW	1	171,764,147 (GRCm39)	missense	probably benign	0.01
R5249:Slamf6	UTSW	1	171,764,249 (GRCm39)	missense	probably damaging	1.00
R5328:Slamf6	UTSW	1	171,765,662 (GRCm39)	missense	probably benign	0.04
R5771:Slamf6	UTSW	1	171,745,341 (GRCm39)	missense	probably damaging	0.98
R6339:Slamf6	UTSW	1	171,775,615 (GRCm39)	missense	probably null	1.00
R6960:Slamf6	UTSW	1	171,745,320 (GRCm39)	missense	probably damaging	0.98
R7400:Slamf6	UTSW	1	171,747,360 (GRCm39)	missense	unknown
R7535:Slamf6	UTSW	1	171,747,325 (GRCm39)	missense	unknown
R7629:Slamf6	UTSW	1	171,764,191 (GRCm39)	missense	probably damaging	0.97
R8202:Slamf6	UTSW	1	171,761,786 (GRCm39)	missense	probably benign	0.01
R8934:Slamf6	UTSW	1	171,745,338 (GRCm39)	missense	possibly damaging	0.76
R9225:Slamf6	UTSW	1	171,764,270 (GRCm39)	missense	probably benign	0.25
R9338:Slamf6	UTSW	1	171,747,157 (GRCm39)	intron	probably benign
R9581:Slamf6	UTSW	1	171,761,897 (GRCm39)	missense
RF025:Slamf6	UTSW	1	171,769,149 (GRCm39)	critical splice acceptor site	probably benign

Predicted Primers

PCR Primer
(F):5'- AGTTTCACAGAGCAGCTCAG -3'
(R):5'- TACTGTGCACTCTCGTAGGC -3'

Sequencing Primer
(F):5'- GACCCCCAGCTAATGAATGG -3'
(R):5'- TGTCTGCCATGGTAAGGT -3'

Posted On

2019-06-26