Mutagenetix > Incidental Mutation

Incidental Mutation 'R9603:Slamf1'

723766

Institutional Source

Beutler Lab

Gene Symbol

Slamf1

Ensembl Gene

ENSMUSG00000015316

Gene Name

signaling lymphocytic activation molecule family member 1

Synonyms

ESTM51, Slam, CDw150, IPO-3, CD150

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9603 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

171594700-171628752 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 171625771 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 316 (V316L)

Ref Sequence

ENSEMBL: ENSMUSP00000015460 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000015460]

AlphaFold

Q9QUM4

Predicted Effect

probably damaging
Transcript: ENSMUST00000015460
AA Change: V316L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000015460
Gene: ENSMUSG00000015316
AA Change: V316L

Domain	Start	End	E-Value	Type
Pfam:SLAM	1	126	3.1e-62	PFAM
SCOP:d1cs6a3	144	231	6e-5	SMART
Blast:IG_like	154	224	5e-6	BLAST
transmembrane domain	243	265	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygous null mice are fertile and display impaired T cell and macrophage cytokine production. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl6	A	T	11: 54,225,911 (GRCm39)	N317I	probably damaging	Het
Adam18	T	A	8: 25,118,147 (GRCm39)	S590C	possibly damaging	Het
Btrc	G	A	19: 45,459,526 (GRCm39)	E103K	probably benign	Het
Cars1	A	G	7: 143,112,929 (GRCm39)	M766T	possibly damaging	Het
Cavin4	T	C	4: 48,671,999 (GRCm39)	V148A	probably benign	Het
Cdcp3	T	C	7: 130,830,643 (GRCm39)	V359A	probably damaging	Het
Cdkn2d	T	C	9: 21,202,139 (GRCm39)	D36G	possibly damaging	Het
Cubn	A	T	2: 13,292,510 (GRCm39)	D3224E	probably damaging	Het
Ebf1	A	G	11: 44,509,006 (GRCm39)	M1V	probably null	Het
Eif1ad7	T	G	12: 88,238,727 (GRCm39)	N11T	unknown	Het
Fcgbp	A	G	7: 27,802,563 (GRCm39)	D1497G	probably damaging	Het
Foxs1	A	C	2: 152,774,281 (GRCm39)	C257W	probably damaging	Het
Fstl5	C	T	3: 76,496,260 (GRCm39)	P341L	probably damaging	Het
Fzd10	G	A	5: 128,678,771 (GRCm39)	G164S	probably benign	Het
Hrh3	C	A	2: 179,742,444 (GRCm39)	E395*	probably null	Het
Hsf4	G	A	8: 105,999,435 (GRCm39)	V318M	probably damaging	Het
Il21	T	C	3: 37,281,949 (GRCm39)	E65G	possibly damaging	Het
Kank1	A	G	19: 25,408,289 (GRCm39)	D1256G	possibly damaging	Het
Klhl22	A	G	16: 17,594,915 (GRCm39)	N348S	possibly damaging	Het
Krr1	T	C	10: 111,812,672 (GRCm39)	I94T	probably damaging	Het
Lpin2	A	G	17: 71,550,410 (GRCm39)	D724G	probably damaging	Het
Mn1	C	A	5: 111,566,393 (GRCm39)	P121Q	probably damaging	Het
Mphosph9	A	T	5: 124,463,015 (GRCm39)	L10*	probably null	Het
Mtus1	A	T	8: 41,536,795 (GRCm39)	V307E	probably benign	Het
Muc20	A	G	16: 32,615,155 (GRCm39)	L74P	probably damaging	Het
Nnat	A	G	2: 157,403,701 (GRCm39)	*113W	probably null	Het
Or13a25	G	T	7: 140,247,794 (GRCm39)	C191F	probably damaging	Het
Or2f1b	C	T	6: 42,739,672 (GRCm39)	Q229*	probably null	Het
Or4f14	A	G	2: 111,743,128 (GRCm39)	V49A	possibly damaging	Het
Or6b6	A	T	7: 106,571,103 (GRCm39)	Y149*	probably null	Het
Pkm	T	A	9: 59,577,831 (GRCm39)	V216E	probably damaging	Het
Pla2g12a	G	A	3: 129,674,900 (GRCm39)	V19I	unknown	Het
Pramel27	T	C	4: 143,578,267 (GRCm39)	S176P		Het
Rai14	G	A	15: 10,595,116 (GRCm39)	Q136*	probably null	Het
Rnf150	T	A	8: 83,717,208 (GRCm39)	N238K	possibly damaging	Het
Rrp1	A	G	10: 78,240,757 (GRCm39)		probably null	Het
Scaf8	T	A	17: 3,246,070 (GRCm39)	L720M	possibly damaging	Het
Slc14a1	C	A	18: 78,152,807 (GRCm39)	A367S	probably damaging	Het
Slc25a20	T	C	9: 108,549,675 (GRCm39)	F86L	probably benign	Het
Slc4a5	T	G	6: 83,217,714 (GRCm39)	S131A	probably benign	Het
Slitrk3	A	G	3: 72,958,649 (GRCm39)	I41T	probably benign	Het
Sntg1	A	T	1: 8,748,198 (GRCm39)	L94Q	probably damaging	Het
St18	T	C	1: 6,915,811 (GRCm39)	C819R	probably damaging	Het
St6galnac3	T	A	3: 153,117,177 (GRCm39)	D182V	probably benign	Het
Tubgcp2	T	A	7: 139,584,789 (GRCm39)	T549S	probably benign	Het
Vim	A	T	2: 13,579,148 (GRCm39)		probably benign	Het
Vmn2r118	C	A	17: 55,899,837 (GRCm39)	R689I	probably damaging	Het
Zbtb41	A	T	1: 139,375,255 (GRCm39)	E905V	probably damaging	Het
Zfyve9	A	T	4: 108,499,288 (GRCm39)	D1284E	possibly damaging	Het

Other mutations in Slamf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02559:Slamf1	APN	1	171,594,826 (GRCm39)	missense	possibly damaging	0.46
IGL03138:Slamf1	UTSW	1	171,604,652 (GRCm39)	missense	possibly damaging	0.81
R0468:Slamf1	UTSW	1	171,619,939 (GRCm39)	splice site	probably benign
R1760:Slamf1	UTSW	1	171,604,734 (GRCm39)	missense	probably benign	0.16
R2149:Slamf1	UTSW	1	171,594,840 (GRCm39)	missense	probably damaging	1.00
R3755:Slamf1	UTSW	1	171,604,728 (GRCm39)	missense	probably damaging	0.99
R3808:Slamf1	UTSW	1	171,625,745 (GRCm39)	missense	probably null	0.70
R3809:Slamf1	UTSW	1	171,625,745 (GRCm39)	missense	probably null	0.70
R4321:Slamf1	UTSW	1	171,602,694 (GRCm39)	critical splice donor site	probably null
R4780:Slamf1	UTSW	1	171,604,829 (GRCm39)	missense	probably benign	0.04
R5566:Slamf1	UTSW	1	171,615,538 (GRCm39)	missense	possibly damaging	0.48
R5807:Slamf1	UTSW	1	171,602,630 (GRCm39)	missense	probably damaging	1.00
R7092:Slamf1	UTSW	1	171,604,757 (GRCm39)	missense	probably benign
R7727:Slamf1	UTSW	1	171,602,467 (GRCm39)	missense	possibly damaging	0.51
R8146:Slamf1	UTSW	1	171,619,887 (GRCm39)	missense	probably benign	0.10
R8252:Slamf1	UTSW	1	171,594,796 (GRCm39)	start codon destroyed	probably null	0.99
R9084:Slamf1	UTSW	1	171,602,522 (GRCm39)	missense	probably damaging	1.00
Z1088:Slamf1	UTSW	1	171,627,160 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTTGGGAGGATTCTCAGCAG -3'
(R):5'- TGCTCCCCATGTGATCTAGC -3'

Sequencing Primer
(F):5'- TTCTCAGCAGGGAGGAAGTC -3'
(R):5'- ATGTGATCTAGCCCACTTTCCTGG -3'

Posted On

2022-09-12