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)
|
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
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
|
SMART Domains |
Protein: ENSMUSP00000141426 Gene: ENSMUSG00000038179
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 |
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
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 |
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
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
|
SMART Domains |
Protein: ENSMUSP00000141601 Gene: ENSMUSG00000038179
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 |
|
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
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 |
|
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 |