Incidental Mutation 'R5807:Slamf1'
ID448564
Institutional Source Beutler Lab
Gene Symbol Slamf1
Ensembl Gene ENSMUSG00000015316
Gene Namesignaling lymphocytic activation molecule family member 1
SynonymsIPO-3, Slam, CD150, CDw150, ESTM51
MMRRC Submission 043393-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R5807 (G1)
Quality Score225
Status Validated
Chromosome1
Chromosomal Location171767127-171801184 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 171775062 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Cysteine at position 119 (Y119C)
Ref Sequence ENSEMBL: ENSMUSP00000015460 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015460]
Predicted Effect probably damaging
Transcript: ENSMUST00000015460
AA Change: Y119C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000015460
Gene: ENSMUSG00000015316
AA Change: Y119C

DomainStartEndE-ValueType
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
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.7%
Validation Efficiency 98% (65/66)
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 A G 1: 71,303,492 L943P probably damaging Het
Abcg5 C A 17: 84,672,291 V214F probably damaging Het
Ang T A 14: 51,101,429 probably benign Het
Arfgef3 A G 10: 18,647,798 probably null Het
Arhgef4 A G 1: 34,807,615 probably benign Het
Atp11b T C 3: 35,812,279 I409T probably damaging Het
Atp5b G A 10: 128,088,562 probably benign Het
Atp9a G A 2: 168,653,534 A660V probably damaging Het
Avpr1a A G 10: 122,449,471 T223A probably benign Het
Bmp2k T C 5: 97,063,494 M507T unknown Het
Cep295 A G 9: 15,332,532 S287P probably damaging Het
Chrna7 T A 7: 63,148,601 D111V probably damaging Het
Cnr2 A G 4: 135,917,436 D275G probably benign Het
Col28a1 T A 6: 8,158,144 M305L probably benign Het
Cpb1 T A 3: 20,263,742 D206V probably damaging Het
Cyp2c50 T C 19: 40,113,500 L453S probably damaging Het
Ddx52 T G 11: 83,949,682 S284A probably benign Het
Efcab1 A T 16: 14,916,972 I69F probably benign Het
Eif2ak4 G T 2: 118,388,851 R48L probably benign Het
Esrrb A G 12: 86,514,401 E303G possibly damaging Het
Fbxo21 A G 5: 117,976,868 E23G probably benign Het
Fcamr T C 1: 130,811,526 S188P probably damaging Het
Fer1l6 C A 15: 58,590,550 S818* probably null Het
Fn1 T C 1: 71,648,059 D213G probably damaging Het
Gcg A G 2: 62,475,725 I176T possibly damaging Het
Glis1 T A 4: 107,568,082 S109T probably benign Het
Gm266 T C 12: 111,485,739 D11G probably benign Het
Gm5070 C A 3: 95,410,654 noncoding transcript Het
Gm8444 T C 15: 81,843,453 probably benign Het
Gm8989 T A 7: 106,330,223 noncoding transcript Het
Golga4 A G 9: 118,527,130 T117A probably damaging Het
Gpr132 G A 12: 112,852,796 R137C probably damaging Het
Herc2 T A 7: 56,230,919 F4766L probably damaging Het
Inhbc C A 10: 127,357,542 E202* probably null Het
Kcnu1 C T 8: 25,849,714 T20I possibly damaging Het
Klhdc3 T C 17: 46,677,465 D161G probably damaging Het
Krt84 T A 15: 101,530,212 K280M probably damaging Het
Krtap9-5 T A 11: 99,949,069 C199S unknown Het
Mrgprb3 A G 7: 48,643,362 V147A probably benign Het
Ndufs6 A T 13: 73,327,434 F48L probably damaging Het
Obscn T C 11: 59,079,650 S2586G probably damaging Het
Olfr148 A G 9: 39,614,463 R299G probably benign Het
Olfr156 C A 4: 43,820,912 V150L probably benign Het
Olfr559 C T 7: 102,724,202 R96H possibly damaging Het
Osbpl6 A G 2: 76,584,513 D416G probably damaging Het
Pdilt A G 7: 119,500,543 probably benign Het
Phf12 C A 11: 78,022,426 D401E probably benign Het
Pla2r1 C T 2: 60,428,721 V1108M possibly damaging Het
Prim2 A G 1: 33,480,406 probably benign Het
Ptpn6 T C 6: 124,724,984 H406R probably benign Het
Qpctl G T 7: 19,143,207 H329N probably damaging Het
Ripk3 T A 14: 55,785,298 N390Y probably damaging Het
Rnase1 A G 14: 51,145,450 V149A probably benign Het
Rtn3 T A 19: 7,456,827 D581V probably damaging Het
Slc25a34 A G 4: 141,623,662 M12T probably benign Het
Tmem38a A G 8: 72,580,100 Y141C probably damaging Het
Tnr C T 1: 159,886,930 T793I possibly damaging Het
Tns3 T C 11: 8,493,211 D384G probably damaging Het
Vmn2r116 T A 17: 23,387,307 Y398N probably damaging Het
Wee1 TCCCC TCCC 7: 110,124,569 probably null Het
Other mutations in Slamf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02559:Slamf1 APN 1 171767258 missense possibly damaging 0.46
IGL03138:Slamf1 UTSW 1 171777084 missense possibly damaging 0.81
R0468:Slamf1 UTSW 1 171792371 splice site probably benign
R1760:Slamf1 UTSW 1 171777166 missense probably benign 0.16
R2149:Slamf1 UTSW 1 171767272 missense probably damaging 1.00
R3755:Slamf1 UTSW 1 171777160 missense probably damaging 0.99
R3808:Slamf1 UTSW 1 171798177 missense probably null 0.70
R3809:Slamf1 UTSW 1 171798177 missense probably null 0.70
R4321:Slamf1 UTSW 1 171775126 critical splice donor site probably null
R4780:Slamf1 UTSW 1 171777261 missense probably benign 0.04
R5566:Slamf1 UTSW 1 171787970 missense possibly damaging 0.48
R7092:Slamf1 UTSW 1 171777189 missense probably benign
R7727:Slamf1 UTSW 1 171774899 missense possibly damaging 0.51
Z1088:Slamf1 UTSW 1 171799592 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACAAAAGTGTCCGCATCCTCG -3'
(R):5'- TGTCAAAGTGCTTCCCTTAAAC -3'

Sequencing Primer
(F):5'- GCATCCTCGTCACCATGG -3'
(R):5'- CCTGTTAGACCAGATCTTTCAAGTTG -3'
Posted On2016-12-15