Incidental Mutation 'R1115:Slamf7'
ID 97106
Institutional Source Beutler Lab
Gene Symbol Slamf7
Ensembl Gene ENSMUSG00000038179
Gene Name SLAM family member 7
Synonyms 19A24, 19A, novel Ly9, CS1, 4930560D03Rik
MMRRC Submission 039188-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.052) question?
Stock # R1115 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 171459971-171480603 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 171466751 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 151 (D151E)
Ref Sequence ENSEMBL: ENSMUSP00000141426 (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: D151E

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000106907
Gene: ENSMUSG00000038179
AA Change: D151E

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
AA Change: D151E

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000141426
Gene: ENSMUSG00000038179
AA Change: D151E

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: D151E

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000141871
Gene: ENSMUSG00000038179
AA Change: D151E

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 probably benign
Transcript: ENSMUST00000194531
AA Change: D151E

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000141259
Gene: ENSMUSG00000038179
AA Change: D151E

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
AA Change: D151E

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000141601
Gene: ENSMUSG00000038179
AA Change: D151E

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 95.9%
  • 20x: 91.8%
Validation Efficiency 100% (34/34)
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acly C A 11: 100,370,081 (GRCm39) V994F probably damaging Het
Arfgap3 T C 15: 83,214,741 (GRCm39) T182A probably benign Het
Bcl2l14 T C 6: 134,409,102 (GRCm39) probably benign Het
Cabin1 T C 10: 75,553,511 (GRCm39) M1183V possibly damaging Het
Ccr7 A T 11: 99,036,103 (GRCm39) I273K possibly damaging Het
Cd40 A G 2: 164,912,681 (GRCm39) M211V possibly damaging Het
Coro2b T G 9: 62,338,609 (GRCm39) E208A probably damaging Het
Dennd5a A C 7: 109,517,968 (GRCm39) M556R probably damaging Het
Efcab2 A T 1: 178,265,062 (GRCm39) probably benign Het
Fastkd2 T C 1: 63,787,114 (GRCm39) probably benign Het
Fbxw8 A C 5: 118,215,636 (GRCm39) probably benign Het
Fhip1a T C 3: 85,629,802 (GRCm39) E263G probably benign Het
Frem1 T C 4: 82,939,007 (GRCm39) D25G probably benign Het
Gtf3c3 C T 1: 54,456,937 (GRCm39) A488T probably damaging Het
Ift52 A G 2: 162,871,702 (GRCm39) K178R probably benign Het
Kit T C 5: 75,810,192 (GRCm39) probably benign Het
Map1a T C 2: 121,137,859 (GRCm39) probably null Het
Mxra7 G T 11: 116,701,696 (GRCm39) probably benign Het
Myt1 C A 2: 181,453,024 (GRCm39) S7* probably null Het
Nphs1 C T 7: 30,180,803 (GRCm39) probably benign Het
Or10h28 C T 17: 33,487,940 (GRCm39) R81* probably null Het
Or1l8 C A 2: 36,817,514 (GRCm39) G204V possibly damaging Het
Osgin2 A T 4: 15,998,085 (GRCm39) D512E possibly damaging Het
Pde4b T A 4: 102,399,352 (GRCm39) probably benign Het
Rasef G T 4: 73,666,841 (GRCm39) T146K possibly damaging Het
Ren1 T A 1: 133,284,256 (GRCm39) V207D probably damaging Het
S100a8 A G 3: 90,577,180 (GRCm39) D59G probably damaging Het
Sdcbp G A 4: 6,377,143 (GRCm39) probably null Het
Sdk2 C T 11: 113,729,472 (GRCm39) silent Het
Slco1b2 A G 6: 141,628,980 (GRCm39) M561V probably benign Het
Sned1 G A 1: 93,209,376 (GRCm39) V830M possibly damaging Het
Stard9 T C 2: 120,523,331 (GRCm39) I662T probably benign Het
Vwf T A 6: 125,632,028 (GRCm39) V20D unknown Het
Znhit6 G T 3: 145,300,440 (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
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
Predicted Primers PCR Primer
(F):5'- AGGAGACTGTCACCTTCACAGAGC -3'
(R):5'- GAGAAGAGCCAAGCAGACTTTCCC -3'

Sequencing Primer
(F):5'- TTCACAGAGCTTCTGGGGAAAG -3'
(R):5'- cagggaggcagaggcag -3'
Posted On 2014-01-05