Incidental Mutation 'R5172:Slamf6'
ID |
398779 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Slamf6
|
Ensembl Gene |
ENSMUSG00000015314 |
Gene Name |
SLAM family member 6 |
Synonyms |
KAL1b, NTB-A, KAL1, Ly108, SF2000 |
MMRRC Submission |
042752-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.058)
|
Stock # |
R5172 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
171745002-171776525 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 171764147 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 180
(E180G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000141448
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000171330]
[ENSMUST00000194182]
[ENSMUST00000194561]
[ENSMUST00000195656]
|
AlphaFold |
Q9ET39 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000171330
AA Change: E180G
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000130610 Gene: ENSMUSG00000015314 AA Change: E180G
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
low complexity region
|
28 |
37 |
N/A |
INTRINSIC |
IG
|
39 |
142 |
1.49e-2 |
SMART |
low complexity region
|
145 |
161 |
N/A |
INTRINSIC |
Blast:IG_like
|
162 |
226 |
7e-16 |
BLAST |
transmembrane domain
|
240 |
262 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193311
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000194182
|
SMART Domains |
Protein: ENSMUSP00000142242 Gene: ENSMUSG00000015314
Domain | Start | End | E-Value | Type |
low complexity region
|
22 |
36 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000194561
AA Change: E180G
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000141944 Gene: ENSMUSG00000015314 AA Change: E180G
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
low complexity region
|
28 |
37 |
N/A |
INTRINSIC |
IG
|
39 |
142 |
1.49e-2 |
SMART |
low complexity region
|
145 |
161 |
N/A |
INTRINSIC |
Blast:IG_like
|
162 |
226 |
5e-16 |
BLAST |
transmembrane domain
|
240 |
262 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000195656
AA Change: E180G
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000141448 Gene: ENSMUSG00000015314 AA Change: E180G
Domain | Start | End | E-Value | Type |
low complexity region
|
28 |
37 |
N/A |
INTRINSIC |
IG
|
39 |
142 |
5.9e-5 |
SMART |
low complexity region
|
145 |
161 |
N/A |
INTRINSIC |
Blast:IG_like
|
162 |
226 |
8e-16 |
BLAST |
transmembrane domain
|
240 |
262 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a type I transmembrane protein, belonging to the CD2 subfamily of the immunoglobulin superfamily. This encoded protein is expressed on Natural killer (NK), T, and B lymphocytes. It undergoes tyrosine phosphorylation and associates with the Src homology 2 domain-containing protein (SH2D1A) as well as with SH2 domain-containing phosphatases (SHPs). It functions as a coreceptor in the process of NK cell activation. It can also mediate inhibitory signals in NK cells from X-linked lymphoproliferative patients. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, May 2010] PHENOTYPE: Mice homozygous for one null allele show no overt phenotype. Mice homozygous for another null allele show impaired IL-4 production by CD4+ T cells, reduced inflammatory response to L. mexicana infection, high susceptibility to S. typhimurium infection, and defective neutrophil bactericidal activity. [provided by MGI curators]
|
Allele List at MGI |
All alleles(3) : Targeted(3)
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc3 |
T |
C |
11: 94,266,434 (GRCm39) |
Y52C |
probably damaging |
Het |
Acmsd |
C |
T |
1: 127,681,585 (GRCm39) |
R183* |
probably null |
Het |
Anxa2 |
T |
A |
9: 69,392,533 (GRCm39) |
D127E |
probably damaging |
Het |
Atrnl1 |
T |
A |
19: 57,673,945 (GRCm39) |
Y593* |
probably null |
Het |
Atxn2 |
C |
T |
5: 121,933,098 (GRCm39) |
|
probably null |
Het |
Ccl6 |
A |
T |
11: 83,480,169 (GRCm39) |
Y66N |
probably damaging |
Het |
Ccng1 |
A |
G |
11: 40,642,113 (GRCm39) |
V223A |
probably benign |
Het |
Cfap44 |
T |
C |
16: 44,269,556 (GRCm39) |
Y1187H |
probably benign |
Het |
Cfc1 |
A |
T |
1: 34,575,011 (GRCm39) |
I10F |
probably benign |
Het |
Chrne |
T |
A |
11: 70,506,352 (GRCm39) |
T365S |
probably benign |
Het |
Clec4b1 |
G |
T |
6: 123,048,414 (GRCm39) |
R183L |
probably benign |
Het |
Csmd2 |
A |
C |
4: 128,371,190 (GRCm39) |
Q1926P |
probably benign |
Het |
Dmpk |
C |
G |
7: 18,821,944 (GRCm39) |
L301V |
probably benign |
Het |
Dzip1 |
T |
A |
14: 119,124,563 (GRCm39) |
Q570L |
probably damaging |
Het |
Fam149a |
T |
A |
8: 45,797,690 (GRCm39) |
Q507L |
probably damaging |
Het |
Frem3 |
T |
C |
8: 81,339,195 (GRCm39) |
V496A |
probably benign |
Het |
Fryl |
A |
T |
5: 73,259,016 (GRCm39) |
D589E |
possibly damaging |
Het |
Hemk1 |
T |
C |
9: 107,206,631 (GRCm39) |
E4G |
possibly damaging |
Het |
Igkv4-80 |
A |
C |
6: 68,993,649 (GRCm39) |
S81A |
probably benign |
Het |
Kcnh7 |
T |
C |
2: 62,569,508 (GRCm39) |
D796G |
possibly damaging |
Het |
Lemd2 |
G |
T |
17: 27,414,356 (GRCm39) |
S326* |
probably null |
Het |
Mdc1 |
T |
C |
17: 36,163,982 (GRCm39) |
S1177P |
probably benign |
Het |
Mfsd4b4 |
A |
G |
10: 39,770,083 (GRCm39) |
F78S |
probably damaging |
Het |
Mmgt2 |
T |
A |
11: 62,555,954 (GRCm39) |
F101I |
possibly damaging |
Het |
Myo18a |
T |
C |
11: 77,714,924 (GRCm39) |
L785P |
probably damaging |
Het |
Nup155 |
C |
A |
15: 8,139,026 (GRCm39) |
Q33K |
probably benign |
Het |
Or52r1c |
T |
C |
7: 102,734,884 (GRCm39) |
L48P |
probably damaging |
Het |
Or5w19 |
A |
G |
2: 87,699,171 (GRCm39) |
T279A |
probably benign |
Het |
Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
Pank1 |
A |
T |
19: 34,818,202 (GRCm39) |
C112* |
probably null |
Het |
Pcmtd1 |
T |
A |
1: 7,233,485 (GRCm39) |
M23K |
probably benign |
Het |
Rere |
A |
T |
4: 150,654,726 (GRCm39) |
R419S |
unknown |
Het |
Rpf1 |
T |
C |
3: 146,218,050 (GRCm39) |
R155G |
possibly damaging |
Het |
Sema7a |
A |
G |
9: 57,864,961 (GRCm39) |
T421A |
probably benign |
Het |
Sharpin |
A |
G |
15: 76,231,741 (GRCm39) |
S323P |
probably benign |
Het |
Snd1 |
T |
G |
6: 28,886,615 (GRCm39) |
V874G |
possibly damaging |
Het |
Sult6b2 |
A |
T |
6: 142,743,657 (GRCm39) |
V123D |
probably damaging |
Het |
Tpk1 |
A |
T |
6: 43,536,951 (GRCm39) |
|
probably null |
Het |
Vmn1r160 |
A |
T |
7: 22,570,761 (GRCm39) |
N38I |
probably damaging |
Het |
Wdr93 |
T |
A |
7: 79,402,241 (GRCm39) |
I180N |
probably damaging |
Het |
Ythdf3 |
C |
T |
3: 16,258,198 (GRCm39) |
T119I |
probably damaging |
Het |
Zc3h18 |
T |
G |
8: 123,134,159 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Slamf6 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00964:Slamf6
|
APN |
1 |
171,745,347 (GRCm39) |
missense |
probably null |
0.27 |
IGL01011:Slamf6
|
APN |
1 |
171,765,666 (GRCm39) |
missense |
probably benign |
0.19 |
P0016:Slamf6
|
UTSW |
1 |
171,764,068 (GRCm39) |
missense |
probably damaging |
0.97 |
R1565:Slamf6
|
UTSW |
1 |
171,761,975 (GRCm39) |
missense |
possibly damaging |
0.53 |
R1763:Slamf6
|
UTSW |
1 |
171,770,154 (GRCm39) |
intron |
probably benign |
|
R1774:Slamf6
|
UTSW |
1 |
171,770,154 (GRCm39) |
intron |
probably benign |
|
R1993:Slamf6
|
UTSW |
1 |
171,761,776 (GRCm39) |
missense |
possibly damaging |
0.74 |
R2155:Slamf6
|
UTSW |
1 |
171,765,575 (GRCm39) |
missense |
probably damaging |
0.99 |
R2328:Slamf6
|
UTSW |
1 |
171,761,818 (GRCm39) |
missense |
probably benign |
0.00 |
R4693:Slamf6
|
UTSW |
1 |
171,761,680 (GRCm39) |
nonsense |
probably null |
|
R5062:Slamf6
|
UTSW |
1 |
171,764,100 (GRCm39) |
missense |
possibly damaging |
0.93 |
R5249:Slamf6
|
UTSW |
1 |
171,764,249 (GRCm39) |
missense |
probably damaging |
1.00 |
R5328:Slamf6
|
UTSW |
1 |
171,765,662 (GRCm39) |
missense |
probably benign |
0.04 |
R5771:Slamf6
|
UTSW |
1 |
171,745,341 (GRCm39) |
missense |
probably damaging |
0.98 |
R6339:Slamf6
|
UTSW |
1 |
171,775,615 (GRCm39) |
missense |
probably null |
1.00 |
R6960:Slamf6
|
UTSW |
1 |
171,745,320 (GRCm39) |
missense |
probably damaging |
0.98 |
R7176:Slamf6
|
UTSW |
1 |
171,761,858 (GRCm39) |
missense |
probably benign |
0.13 |
R7400:Slamf6
|
UTSW |
1 |
171,747,360 (GRCm39) |
missense |
unknown |
|
R7535:Slamf6
|
UTSW |
1 |
171,747,325 (GRCm39) |
missense |
unknown |
|
R7629:Slamf6
|
UTSW |
1 |
171,764,191 (GRCm39) |
missense |
probably damaging |
0.97 |
R8202:Slamf6
|
UTSW |
1 |
171,761,786 (GRCm39) |
missense |
probably benign |
0.01 |
R8934:Slamf6
|
UTSW |
1 |
171,745,338 (GRCm39) |
missense |
possibly damaging |
0.76 |
R9225:Slamf6
|
UTSW |
1 |
171,764,270 (GRCm39) |
missense |
probably benign |
0.25 |
R9338:Slamf6
|
UTSW |
1 |
171,747,157 (GRCm39) |
intron |
probably benign |
|
R9581:Slamf6
|
UTSW |
1 |
171,761,897 (GRCm39) |
missense |
|
|
RF025:Slamf6
|
UTSW |
1 |
171,769,149 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- TCACAGGTTGATCGGCAAAGC -3'
(R):5'- AGAGCATAGGTGGAACTCTGGC -3'
Sequencing Primer
(F):5'- CAAAGCCATGTGTCCTTAACTGAGG -3'
(R):5'- AACTCTGGCAGGATGTGGTTC -3'
|
Posted On |
2016-07-06 |