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)
|
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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 |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |