Incidental Mutation 'IGL00971:Slamf7'
ID |
26747 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
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 # |
IGL00971
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
171459971-171480603 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 171466810 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Leucine
at position 132
(I132L)
|
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: I132L
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000106907 Gene: ENSMUSG00000038179 AA Change: I132L
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: I132L
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000141426 Gene: ENSMUSG00000038179 AA Change: I132L
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: I132L
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000141871 Gene: ENSMUSG00000038179 AA Change: I132L
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: I132L
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000141259 Gene: ENSMUSG00000038179 AA Change: I132L
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: I132L
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000141601 Gene: ENSMUSG00000038179 AA Change: I132L
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 |
|
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: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930596D02Rik |
C |
T |
14: 35,532,170 (GRCm39) |
C135Y |
possibly damaging |
Het |
Afdn |
T |
A |
17: 14,072,575 (GRCm39) |
|
probably benign |
Het |
Akap10 |
A |
G |
11: 61,795,622 (GRCm39) |
V347A |
possibly damaging |
Het |
Ankrd11 |
A |
G |
8: 123,622,092 (GRCm39) |
S587P |
probably damaging |
Het |
Ces1g |
T |
C |
8: 94,029,660 (GRCm39) |
Y524C |
probably damaging |
Het |
Cimip2b |
A |
G |
4: 43,428,377 (GRCm39) |
L51P |
probably damaging |
Het |
Cubn |
T |
C |
2: 13,283,219 (GRCm39) |
N3573S |
possibly damaging |
Het |
Cyp1a1 |
G |
T |
9: 57,607,990 (GRCm39) |
C206F |
probably damaging |
Het |
Fbxo30 |
T |
C |
10: 11,166,042 (GRCm39) |
Y255H |
probably benign |
Het |
Ggnbp2 |
T |
C |
11: 84,731,230 (GRCm39) |
I295V |
possibly damaging |
Het |
Gpatch8 |
A |
G |
11: 102,370,743 (GRCm39) |
Y932H |
unknown |
Het |
Gvin-ps3 |
G |
A |
7: 105,681,008 (GRCm39) |
|
noncoding transcript |
Het |
Heatr6 |
C |
T |
11: 83,650,135 (GRCm39) |
P197L |
probably damaging |
Het |
Helb |
T |
C |
10: 119,930,168 (GRCm39) |
D737G |
possibly damaging |
Het |
Helz |
A |
T |
11: 107,554,479 (GRCm39) |
I1226F |
possibly damaging |
Het |
Ipo11 |
A |
T |
13: 106,993,277 (GRCm39) |
I749N |
probably damaging |
Het |
Ipo13 |
T |
C |
4: 117,771,564 (GRCm39) |
E2G |
possibly damaging |
Het |
Jam3 |
A |
C |
9: 27,013,188 (GRCm39) |
D127E |
probably damaging |
Het |
Kif16b |
G |
T |
2: 142,553,664 (GRCm39) |
Q1045K |
probably benign |
Het |
Kin |
T |
C |
2: 10,095,159 (GRCm39) |
W121R |
possibly damaging |
Het |
Man1b1 |
T |
G |
2: 25,233,337 (GRCm39) |
S237A |
possibly damaging |
Het |
Mmel1 |
C |
T |
4: 154,972,289 (GRCm39) |
|
probably benign |
Het |
Morn4 |
T |
C |
19: 42,064,559 (GRCm39) |
N143S |
possibly damaging |
Het |
Nlrp4b |
A |
G |
7: 10,448,882 (GRCm39) |
T362A |
possibly damaging |
Het |
Ntpcr |
C |
T |
8: 126,474,501 (GRCm39) |
T153M |
probably damaging |
Het |
Or13p10 |
T |
A |
4: 118,523,475 (GRCm39) |
F254I |
probably damaging |
Het |
Pdzd2 |
A |
G |
15: 12,374,804 (GRCm39) |
L1777P |
probably benign |
Het |
Postn |
A |
G |
3: 54,276,697 (GRCm39) |
N192S |
possibly damaging |
Het |
Prkar1a |
A |
T |
11: 109,551,877 (GRCm39) |
Y122F |
probably benign |
Het |
Serpinb7 |
A |
G |
1: 107,355,976 (GRCm39) |
|
probably benign |
Het |
Setd3 |
A |
T |
12: 108,126,496 (GRCm39) |
I121N |
probably damaging |
Het |
Syt4 |
T |
C |
18: 31,580,227 (GRCm39) |
|
probably benign |
Het |
Tesc |
G |
A |
5: 118,194,504 (GRCm39) |
|
probably null |
Het |
Tsc1 |
C |
A |
2: 28,560,952 (GRCm39) |
S270* |
probably null |
Het |
Wap |
C |
A |
11: 6,586,808 (GRCm39) |
C97F |
probably damaging |
Het |
Zfp451 |
A |
G |
1: 33,822,234 (GRCm39) |
S155P |
probably benign |
Het |
Zfp469 |
A |
G |
8: 122,996,472 (GRCm39) |
|
probably benign |
Het |
Zfp51 |
C |
T |
17: 21,683,844 (GRCm39) |
T153M |
probably benign |
Het |
Zfp579 |
A |
G |
7: 4,996,390 (GRCm39) |
I507T |
probably damaging |
Het |
|
Other mutations in Slamf7 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
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 |
|
Posted On |
2013-04-17 |