Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02559:Slamf1'

298615

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slamf1

Ensembl Gene

ENSMUSG00000015316

Gene Name

signaling lymphocytic activation molecule family member 1

Synonyms

ESTM51, Slam, CDw150, IPO-3, CD150

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02559

Quality Score

Status

Chromosome

Chromosomal Location

171594700-171628752 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 171594826 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Lysine at position 11 (I11K)

Ref Sequence

ENSEMBL: ENSMUSP00000015460 (fasta)

Gene Model

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

AlphaFold

Q9QUM4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000015460
AA Change: I11K

PolyPhen 2 Score 0.462 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000015460
Gene: ENSMUSG00000015316
AA Change: I11K

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000163992

Coding Region Coverage

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi3bp	C	T	16: 56,507,433 (GRCm39)	Q1004*	probably null	Het
Bahcc1	A	G	11: 120,175,998 (GRCm39)	D1914G	probably damaging	Het
Bcl11b	A	T	12: 107,881,653 (GRCm39)		probably benign	Het
Cdc45	C	T	16: 18,617,479 (GRCm39)	M200I	probably benign	Het
Col24a1	A	T	3: 145,019,934 (GRCm39)	I102F	probably benign	Het
Col7a1	C	T	9: 108,802,284 (GRCm39)	R2063C	unknown	Het
Ddo	T	A	10: 40,523,517 (GRCm39)	L169Q	probably damaging	Het
Defb4	G	T	8: 19,251,313 (GRCm39)	C60F	probably damaging	Het
Dock9	A	T	14: 121,862,559 (GRCm39)		probably benign	Het
Dysf	A	T	6: 84,044,428 (GRCm39)		probably benign	Het
Fasn	G	A	11: 120,699,892 (GRCm39)	A2253V	possibly damaging	Het
Fbxw26	T	C	9: 109,551,232 (GRCm39)	D355G	probably benign	Het
Gak	C	T	5: 108,732,098 (GRCm39)	E797K	probably null	Het
Gm10654	T	C	8: 71,384,774 (GRCm39)		noncoding transcript	Het
Gnas	T	C	2: 174,183,729 (GRCm39)		probably benign	Het
H2bc11	T	A	13: 22,227,533 (GRCm39)	V45E	possibly damaging	Het
Hdac3	A	G	18: 38,087,944 (GRCm39)	F8S	probably damaging	Het
Hrh4	T	C	18: 13,140,301 (GRCm39)		probably null	Het
Klhl1	A	G	14: 96,389,396 (GRCm39)	V586A	possibly damaging	Het
Lct	T	C	1: 128,222,003 (GRCm39)	N1512S	probably damaging	Het
Mmp28	G	T	11: 83,338,566 (GRCm39)	N128K	probably benign	Het
Mndal	T	C	1: 173,700,486 (GRCm39)	T162A	probably benign	Het
Myh3	A	G	11: 66,991,921 (GRCm39)	E1822G	possibly damaging	Het
Mylpf	A	G	7: 126,813,315 (GRCm39)	Y133C	probably damaging	Het
Nup210l	G	A	3: 90,067,260 (GRCm39)	A767T	probably benign	Het
Or10j3b	T	C	1: 173,044,088 (GRCm39)	V290A	probably damaging	Het
Or52n2	T	A	7: 104,542,161 (GRCm39)	R225W	probably benign	Het
Or5au1	A	G	14: 52,273,464 (GRCm39)	Y35H	probably damaging	Het
Paics	A	G	5: 77,112,451 (GRCm39)	I312V	possibly damaging	Het
Pkdrej	G	T	15: 85,702,049 (GRCm39)	Q1296K	probably benign	Het
Rufy1	A	G	11: 50,311,310 (GRCm39)	F170L	probably damaging	Het
Shcbp1	T	A	8: 4,799,305 (GRCm39)	E93V	probably damaging	Het
Slc5a5	C	T	8: 71,342,915 (GRCm39)	G215D	probably damaging	Het
Slco1a1	A	T	6: 141,867,514 (GRCm39)	V473D	probably benign	Het
Slit1	A	G	19: 41,709,524 (GRCm39)	V123A	probably benign	Het
Srgap2	A	C	1: 131,452,674 (GRCm39)		probably null	Het
Stk32c	T	C	7: 138,700,606 (GRCm39)	M208V	probably benign	Het
Syt15	T	C	14: 33,943,760 (GRCm39)	V103A	probably benign	Het
Tacc2	T	A	7: 130,360,997 (GRCm39)	L456Q	probably damaging	Het
Tanc1	A	G	2: 59,554,998 (GRCm39)		probably benign	Het
Tepsin	G	T	11: 119,987,731 (GRCm39)	D62E	probably benign	Het
Thap3	T	C	4: 152,068,144 (GRCm39)	D106G	probably benign	Het
Ttn	T	C	2: 76,616,561 (GRCm39)	D14818G	probably damaging	Het
Txndc2	T	C	17: 65,946,585 (GRCm39)	N39S	possibly damaging	Het
Ubxn11	A	G	4: 133,852,254 (GRCm39)	E200G	probably damaging	Het
Vmn2r11	T	G	5: 109,200,046 (GRCm39)	Q469P	probably damaging	Het
Yipf2	T	C	9: 21,503,482 (GRCm39)	T22A	probably damaging	Het
Ypel1	T	C	16: 16,927,515 (GRCm39)	K26E	possibly damaging	Het

Other mutations in Slamf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R9603:Slamf1	UTSW	1	171,625,771 (GRCm39)	missense	probably damaging	1.00
Z1088:Slamf1	UTSW	1	171,627,160 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16