Incidental Mutation 'IGL02441:Slamf7'
ID 293972
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slamf7
Ensembl Gene ENSMUSG00000038179
Gene Name SLAM family member 7
Synonyms 19A24, 19A, novel Ly9, CS1, 4930560D03Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.052) question?
Stock # IGL02441
Quality Score
Status
Chromosome 1
Chromosomal Location 171459971-171480603 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 171468625 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 89 (L89P)
Ref Sequence ENSEMBL: ENSMUSP00000141601 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000111276] [ENSMUST00000192024] [ENSMUST00000192195] [ENSMUST00000194531] [ENSMUST00000194791]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000111276
AA Change: L89P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000106907
Gene: ENSMUSG00000038179
AA Change: L89P

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Blast:IG 26 122 1e-34 BLAST
PDB:2IF7|D 29 213 2e-22 PDB
Blast:IG_like 135 208 3e-13 BLAST
SCOP:d2fcba2 144 206 3e-3 SMART
transmembrane domain 224 246 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183842
Predicted Effect probably damaging
Transcript: ENSMUST00000192024
AA Change: L89P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000141426
Gene: ENSMUSG00000038179
AA Change: L89P

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Blast:IG 26 122 2e-35 BLAST
Pfam:Ig_3 127 196 5e-8 PFAM
transmembrane domain 228 250 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000192195
AA Change: L89P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000141871
Gene: ENSMUSG00000038179
AA Change: L89P

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Blast:IG 26 122 1e-34 BLAST
Pfam:Ig_3 127 196 2.3e-9 PFAM
transmembrane domain 224 246 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000194531
AA Change: L89P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000141259
Gene: ENSMUSG00000038179
AA Change: L89P

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Blast:IG 26 122 1e-34 BLAST
Pfam:Ig_3 127 196 6.3e-8 PFAM
transmembrane domain 224 246 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000194791
AA Change: L89P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000141601
Gene: ENSMUSG00000038179
AA Change: L89P

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Blast:IG 26 122 2e-35 BLAST
Pfam:Ig_3 127 196 4.6e-8 PFAM
transmembrane domain 228 250 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Natural Killer cells from null homozygotes display impaired cytolysis of certain target cells. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alg8 C T 7: 97,029,504 (GRCm39) R179C probably benign Het
Als2 A G 1: 59,254,631 (GRCm39) M242T probably damaging Het
Atad1 C T 19: 32,684,348 (GRCm39) V17I probably benign Het
Bag4 A G 8: 26,258,136 (GRCm39) V397A probably damaging Het
Brd7 A G 8: 89,070,218 (GRCm39) V396A probably damaging Het
Cdc45 C T 16: 18,617,479 (GRCm39) M200I probably benign Het
Cdhr4 T A 9: 107,870,466 (GRCm39) I123N possibly damaging Het
Cep68 A G 11: 20,189,186 (GRCm39) F609L probably benign Het
Clec3b C A 9: 122,980,178 (GRCm39) P24T possibly damaging Het
Ctsg T A 14: 56,339,869 (GRCm39) T9S probably benign Het
Dalrd3 A T 9: 108,448,725 (GRCm39) probably benign Het
Dock6 A T 9: 21,753,222 (GRCm39) V286E possibly damaging Het
Dpep2 G A 8: 106,711,723 (GRCm39) A568V probably benign Het
Dph5 A C 3: 115,720,390 (GRCm39) Q192P possibly damaging Het
Eppin T A 2: 164,433,698 (GRCm39) R37* probably null Het
Esyt1 A G 10: 128,348,293 (GRCm39) L865P possibly damaging Het
Exoc6b A G 6: 84,981,990 (GRCm39) L102P probably damaging Het
Foxo6 A G 4: 120,125,232 (GRCm39) I521T possibly damaging Het
Guca1a A T 17: 47,705,578 (GRCm39) probably benign Het
Hpx A G 7: 105,241,430 (GRCm39) F327S probably damaging Het
Hspa12b A G 2: 130,980,515 (GRCm39) M145V probably null Het
Hspa4 A T 11: 53,161,809 (GRCm39) S448T probably benign Het
Kbtbd6 T C 14: 79,690,759 (GRCm39) Y422H probably benign Het
Lama4 A T 10: 38,937,441 (GRCm39) D677V probably benign Het
Ldb1 C T 19: 46,024,195 (GRCm39) E111K probably damaging Het
Macf1 A G 4: 123,281,029 (GRCm39) S3823P probably damaging Het
Man1a2 G A 3: 100,499,189 (GRCm39) T415I probably benign Het
Map3k2 T C 18: 32,333,099 (GRCm39) probably benign Het
Morn5 T A 2: 35,945,038 (GRCm39) Y87* probably null Het
Mpp3 T C 11: 101,900,501 (GRCm39) D326G probably benign Het
Mrgprx1 T C 7: 47,671,336 (GRCm39) H137R probably benign Het
Nav2 C A 7: 49,102,260 (GRCm39) P292T probably damaging Het
Nlrp2 C A 7: 5,338,566 (GRCm39) probably null Het
Noxo1 G A 17: 24,918,030 (GRCm39) S112N probably damaging Het
Nudt9 G T 5: 104,212,885 (GRCm39) K319N probably benign Het
Or8b38 A T 9: 37,973,233 (GRCm39) I206L probably benign Het
Osbpl7 C A 11: 96,958,528 (GRCm39) Q728K probably damaging Het
Pcsk1 A T 13: 75,280,282 (GRCm39) E702D probably benign Het
Piezo2 T C 18: 63,205,933 (GRCm39) D1492G probably damaging Het
Plekhg1 A G 10: 3,908,103 (GRCm39) K1007E possibly damaging Het
Ppp6r3 G A 19: 3,514,693 (GRCm39) P141S probably benign Het
Prrt3 T C 6: 113,473,977 (GRCm39) T354A probably damaging Het
Ptk2 C A 15: 73,192,675 (GRCm39) W181L probably benign Het
Rif1 T A 2: 51,995,527 (GRCm39) H915Q probably benign Het
Selenbp2 G T 3: 94,611,371 (GRCm39) V361L probably benign Het
Slc6a21 G A 7: 44,937,505 (GRCm39) V599M probably damaging Het
Sltm G T 9: 70,494,467 (GRCm39) S921I probably damaging Het
Smc4 C A 3: 68,913,544 (GRCm39) A44E probably damaging Het
Tdrd5 A T 1: 156,087,513 (GRCm39) probably benign Het
Tead2 T A 7: 44,866,845 (GRCm39) I68N probably damaging Het
Tnks1bp1 T A 2: 84,902,143 (GRCm39) S1680T probably damaging Het
Topbp1 T C 9: 103,197,438 (GRCm39) V386A possibly damaging Het
Tpx2 C A 2: 152,724,207 (GRCm39) P328T possibly damaging Het
Ttn T A 2: 76,576,332 (GRCm39) I24854F probably damaging Het
Zbtb11 G A 16: 55,794,552 (GRCm39) R43H possibly damaging Het
Zfp609 A G 9: 65,610,611 (GRCm39) L784S possibly damaging Het
Zfp703 T C 8: 27,470,036 (GRCm39) S567P probably damaging Het
Zfp750 A G 11: 121,404,455 (GRCm39) I140T probably benign Het
Other mutations in Slamf7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00971:Slamf7 APN 1 171,466,810 (GRCm39) missense probably benign 0.00
IGL01599:Slamf7 APN 1 171,468,754 (GRCm39) missense possibly damaging 0.67
IGL02980:Slamf7 UTSW 1 171,468,566 (GRCm39) missense possibly damaging 0.96
R0136:Slamf7 UTSW 1 171,476,499 (GRCm39) unclassified probably benign
R0299:Slamf7 UTSW 1 171,476,499 (GRCm39) unclassified probably benign
R1115:Slamf7 UTSW 1 171,466,751 (GRCm39) missense probably benign 0.02
R1449:Slamf7 UTSW 1 171,468,606 (GRCm39) missense possibly damaging 0.88
R4051:Slamf7 UTSW 1 171,464,951 (GRCm39) missense possibly damaging 0.66
R4573:Slamf7 UTSW 1 171,463,934 (GRCm39) missense probably benign 0.01
R4951:Slamf7 UTSW 1 171,466,693 (GRCm39) missense probably benign 0.01
R5772:Slamf7 UTSW 1 171,466,838 (GRCm39) critical splice acceptor site probably null
R5872:Slamf7 UTSW 1 171,466,635 (GRCm39) missense probably damaging 0.98
R7575:Slamf7 UTSW 1 171,466,762 (GRCm39) missense probably damaging 1.00
R7730:Slamf7 UTSW 1 171,468,589 (GRCm39) missense possibly damaging 0.73
R9026:Slamf7 UTSW 1 171,466,312 (GRCm39) missense probably benign 0.29
X0052:Slamf7 UTSW 1 171,468,782 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16