Incidental Mutation 'R4051:Slamf7'
ID 314143
Institutional Source Beutler Lab
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 # R4051 ()
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 171459971-171480603 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 171464951 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 261 (K261E)
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 possibly damaging
Transcript: ENSMUST00000111276
AA Change: K261E

PolyPhen 2 Score 0.492 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000106907
Gene: ENSMUSG00000038179
AA Change: K261E

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 benign
Transcript: ENSMUST00000192024
SMART Domains Protein: ENSMUSP00000141426
Gene: ENSMUSG00000038179

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 possibly damaging
Transcript: ENSMUST00000192195
AA Change: K261E

PolyPhen 2 Score 0.492 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000141871
Gene: ENSMUSG00000038179
AA Change: K261E

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 noncoding transcript
Transcript: ENSMUST00000192524
Predicted Effect possibly damaging
Transcript: ENSMUST00000194531
AA Change: K261E

PolyPhen 2 Score 0.662 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000141259
Gene: ENSMUSG00000038179
AA Change: K261E

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 benign
Transcript: ENSMUST00000194791
SMART Domains Protein: ENSMUSP00000141601
Gene: ENSMUSG00000038179

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
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 93.9%
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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc6 A C 7: 45,635,987 (GRCm39) L1020R probably damaging Het
Ahnak A C 19: 8,991,691 (GRCm39) D4325A probably damaging Het
Chtf18 A G 17: 25,938,168 (GRCm39) V955A probably damaging Het
Dclk2 A G 3: 86,738,129 (GRCm39) probably null Het
Disc1 A G 8: 125,875,164 (GRCm39) T547A possibly damaging Het
Eif4b A G 15: 101,995,039 (GRCm39) Y211C probably benign Het
Fli1 T G 9: 32,363,458 (GRCm39) D176A probably benign Het
Hcn2 A C 10: 79,569,521 (GRCm39) probably null Het
Ice1 A G 13: 70,751,646 (GRCm39) V1480A probably damaging Het
Ier5l A C 2: 30,363,324 (GRCm39) S234A probably benign Het
Ino80b G C 6: 83,099,314 (GRCm39) P178R probably damaging Het
Itga11 C T 9: 62,662,933 (GRCm39) Q550* probably null Het
Kdr T A 5: 76,129,068 (GRCm39) M193L probably benign Het
Kif3b G A 2: 153,165,477 (GRCm39) R628Q probably damaging Het
Ldlrad3 C T 2: 101,783,507 (GRCm39) D240N probably damaging Het
Met T C 6: 17,548,728 (GRCm39) V924A possibly damaging Het
Or52m1 T C 7: 102,290,233 (GRCm39) V260A possibly damaging Het
Peg10 T C 6: 4,754,534 (GRCm39) L105P probably benign Het
Phtf1 A G 3: 103,912,824 (GRCm39) T717A possibly damaging Het
Ptafr T C 4: 132,307,305 (GRCm39) W232R probably benign Het
Rnase4 A G 14: 51,342,462 (GRCm39) K62R probably benign Het
Slc9c1 T A 16: 45,363,593 (GRCm39) Y120N probably damaging Het
Sstr2 A C 11: 113,515,482 (GRCm39) T134P probably damaging Het
Steap4 A G 5: 8,030,404 (GRCm39) Y420C probably damaging Het
Tbc1d9b T C 11: 50,062,070 (GRCm39) C1210R probably benign Het
Tnfsf10 T A 3: 27,389,503 (GRCm39) I188N probably damaging Het
Trav7-3 A G 14: 53,681,203 (GRCm39) T82A probably benign Het
Usp46 T C 5: 74,163,416 (GRCm39) N283S probably benign Het
Vmn2r84 T G 10: 130,226,767 (GRCm39) N357T probably damaging Het
Zfp217 T C 2: 169,954,536 (GRCm39) probably null 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
IGL02441:Slamf7 APN 1 171,468,625 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- TGCTCTCCACGCTATCTGAG -3'
(R):5'- CACAATGACTAACTTGGCCTG -3'

Sequencing Primer
(F):5'- CTATCTGAGCCTGTAGGGAGAAGTC -3'
(R):5'- CACAATGACTAACTTGGCCTGTTTTG -3'
Posted On 2015-04-30