Incidental Mutation 'IGL01599:Slamf7'
ID 92059
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slamf7
Ensembl Gene ENSMUSG00000038179
Gene Name SLAM family member 7
Synonyms 19A24, novel Ly9, 19A, 4930560D03Rik, CS1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.049) question?
Stock # IGL01599
Quality Score
Status
Chromosome 1
Chromosomal Location 171632403-171653035 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 171641186 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 46 (I46T)
Ref Sequence ENSEMBL: ENSMUSP00000141259 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000111276] [ENSMUST00000192024] [ENSMUST00000192195] [ENSMUST00000194531] [ENSMUST00000194791]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000111276
AA Change: I46T

PolyPhen 2 Score 0.418 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000106907
Gene: ENSMUSG00000038179
AA Change: I46T

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 possibly damaging
Transcript: ENSMUST00000192024
AA Change: I46T

PolyPhen 2 Score 0.672 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000141426
Gene: ENSMUSG00000038179
AA Change: I46T

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 benign
Transcript: ENSMUST00000192195
AA Change: I46T

PolyPhen 2 Score 0.418 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000141871
Gene: ENSMUSG00000038179
AA Change: I46T

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 possibly damaging
Transcript: ENSMUST00000194531
AA Change: I46T

PolyPhen 2 Score 0.672 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000141259
Gene: ENSMUSG00000038179
AA Change: I46T

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 possibly damaging
Transcript: ENSMUST00000194791
AA Change: I46T

PolyPhen 2 Score 0.472 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000141601
Gene: ENSMUSG00000038179
AA Change: I46T

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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ackr3 T C 1: 90,214,134 V105A probably benign Het
Acr T C 15: 89,568,414 V18A probably benign Het
Adgra2 G A 8: 27,118,733 A540T possibly damaging Het
Aldh16a1 A G 7: 45,142,093 F753L probably damaging Het
Ankfy1 T A 11: 72,738,365 Y338N probably benign Het
Aox3 C T 1: 58,169,794 R829C probably damaging Het
Arhgef11 T C 3: 87,737,046 S1535P probably benign Het
C4b A G 17: 34,743,019 probably benign Het
Ccdc157 A G 11: 4,148,781 C242R probably damaging Het
Cep135 T A 5: 76,593,347 M90K possibly damaging Het
Cfap36 A T 11: 29,244,057 probably null Het
Chl1 A G 6: 103,708,484 T829A probably benign Het
Copb2 T C 9: 98,581,150 S473P probably damaging Het
Cpb1 C T 3: 20,251,954 probably null Het
Cpsf1 A G 15: 76,596,541 L1295P probably damaging Het
Dmp1 C T 5: 104,212,462 Q335* probably null Het
Dyrk1a T A 16: 94,691,884 S621T possibly damaging Het
Exoc5 T A 14: 49,034,964 Q331L probably benign Het
Fmnl1 G A 11: 103,186,656 V287M probably damaging Het
Fras1 T C 5: 96,709,891 S2015P possibly damaging Het
Gm7052 T C 17: 22,040,004 probably benign Het
Gprc5c A G 11: 114,864,252 I252V probably benign Het
Ints3 C T 3: 90,394,322 probably null Het
L1td1 A G 4: 98,737,344 D592G probably damaging Het
Lamb3 A G 1: 193,343,412 M1137V probably benign Het
Leng8 C A 7: 4,145,482 A751E probably benign Het
Lfng T C 5: 140,612,535 V204A probably damaging Het
Lsm14b A G 2: 180,032,603 D233G probably damaging Het
Map4 C T 9: 110,034,768 P354S probably benign Het
Mapt G A 11: 104,294,915 V53M probably damaging Het
Mier1 T G 4: 103,155,541 S377A possibly damaging Het
Neurog1 T C 13: 56,251,847 D29G probably damaging Het
Npr3 G A 15: 11,895,789 A257V probably damaging Het
Nup188 T C 2: 30,327,525 V824A possibly damaging Het
Olfm4 T C 14: 80,021,310 S333P probably damaging Het
Olfr460 A C 6: 40,572,252 I289L probably damaging Het
Olfr849 T G 9: 19,441,815 F301V probably benign Het
Pbxip1 C A 3: 89,443,590 probably benign Het
Pde9a G T 17: 31,414,150 C38F probably damaging Het
Plb1 A T 5: 32,342,544 probably benign Het
Plcz1 T C 6: 140,002,256 probably benign Het
Plxnb1 T C 9: 109,110,604 V1447A probably damaging Het
Pnldc1 A T 17: 12,906,528 M73K probably benign Het
Psg20 C T 7: 18,681,038 V311M possibly damaging Het
Psmd2 G T 16: 20,659,405 probably null Het
Rabgap1 T C 2: 37,556,269 V859A probably damaging Het
Rad51b T A 12: 79,327,228 S194T probably benign Het
Rb1cc1 C T 1: 6,248,771 Q788* probably null Het
Ror2 C T 13: 53,111,617 G468R probably damaging Het
Stab2 A G 10: 86,922,895 S1060P probably damaging Het
Syndig1 T A 2: 150,003,283 V242E probably damaging Het
Tgfbr3 G A 5: 107,118,451 T801M probably damaging Het
Tmem132c T C 5: 127,359,552 probably benign Het
Trav21-dv12 T C 14: 53,876,731 Y103H probably damaging Het
Ubr3 T C 2: 69,938,178 V443A probably damaging Het
Uhrf2 G T 19: 30,092,120 C749F probably damaging Het
Ulk2 G T 11: 61,791,436 S751* probably null Het
Wrn G A 8: 33,241,011 P1098S possibly damaging Het
Xrcc5 T C 1: 72,346,349 V533A possibly damaging Het
Zc3h13 T C 14: 75,309,723 S223P probably damaging Het
Zcchc11 T C 4: 108,513,399 S871P possibly damaging Het
Other mutations in Slamf7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00971:Slamf7 APN 1 171639242 missense probably benign 0.00
IGL02441:Slamf7 APN 1 171641057 missense probably damaging 1.00
IGL02980:Slamf7 UTSW 1 171640998 missense possibly damaging 0.96
R0136:Slamf7 UTSW 1 171648931 unclassified probably benign
R0299:Slamf7 UTSW 1 171648931 unclassified probably benign
R1115:Slamf7 UTSW 1 171639183 missense probably benign 0.02
R1449:Slamf7 UTSW 1 171641038 missense possibly damaging 0.88
R4051:Slamf7 UTSW 1 171637383 missense possibly damaging 0.66
R4573:Slamf7 UTSW 1 171636366 missense probably benign 0.01
R4951:Slamf7 UTSW 1 171639125 missense probably benign 0.01
R5772:Slamf7 UTSW 1 171639270 critical splice acceptor site probably null
R5872:Slamf7 UTSW 1 171639067 missense probably damaging 0.98
R7575:Slamf7 UTSW 1 171639194 missense probably damaging 1.00
R7730:Slamf7 UTSW 1 171641021 missense possibly damaging 0.73
R9026:Slamf7 UTSW 1 171638744 missense probably benign 0.29
X0052:Slamf7 UTSW 1 171641214 missense probably damaging 1.00
Posted On 2013-12-09