Incidental Mutation 'IGL01908:Clnk'
| ID |
179733 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Clnk
|
| Ensembl Gene |
ENSMUSG00000039315 |
| Gene Name |
cytokine-dependent hematopoietic cell linker |
| Synonyms |
MIST |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.052)
|
| Stock # |
IGL01908
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
38863805-39034155 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 38870485 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Tyrosine
at position 358
(N358Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132779
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000169819]
[ENSMUST00000171633]
|
| AlphaFold |
Q9QZE2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000169819
AA Change: N358Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000128473
Gene: ENSMUSG00000039315
AA Change: N358Y
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
158 |
188 |
N/A |
INTRINSIC |
|
SH2
|
307 |
398 |
3.53e-19 |
SMART |
|
low complexity region
|
414 |
427 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000171633
AA Change: N358Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000132779
Gene: ENSMUSG00000039315
AA Change: N358Y
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
158 |
188 |
N/A |
INTRINSIC |
|
SH2
|
307 |
398 |
3.53e-19 |
SMART |
|
low complexity region
|
414 |
427 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] MIST is a member of the SLP76 family of adaptors (see LCP2, MIM 601603; BLNK, MIM 604515). MIST plays a role in the regulation of immunoreceptor signaling, including PLC-gamma (PLCG1; MIM 172420)-mediated B cell antigen receptor (BCR) signaling and FC-epsilon R1 (see FCER1A, MIM 147140)-mediated mast cell degranulation (Cao et al., 1999 [PubMed 10562326]; Goitsuka et al., 2000, 2001 [PubMed 10744659] [PubMed 11463797]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for a reporter allele display altered natural killer (NK) T cell physiology and enhanced NK cell cytolysis. Mice homozygous for knock-out allele display abnormal mast cell physiology as well as enhanced NK cell cytolysis. [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 |
|---|
| Aoc1 |
G |
T |
6: 48,883,690 (GRCm39) |
R522L |
probably damaging |
Het |
| Asic5 |
G |
T |
3: 81,913,877 (GRCm39) |
G184* |
probably null |
Het |
| Bcr |
T |
A |
10: 74,897,705 (GRCm39) |
I283N |
possibly damaging |
Het |
| Bscl2 |
A |
G |
19: 8,822,640 (GRCm39) |
T134A |
probably damaging |
Het |
| Clip1 |
A |
G |
5: 123,761,270 (GRCm39) |
|
probably benign |
Het |
| Crnkl1 |
A |
T |
2: 145,770,075 (GRCm39) |
V256E |
probably benign |
Het |
| Ctsm |
A |
T |
13: 61,685,601 (GRCm39) |
S270R |
probably benign |
Het |
| Dhx57 |
G |
T |
17: 80,558,872 (GRCm39) |
P1029H |
probably damaging |
Het |
| Dock3 |
A |
G |
9: 106,783,861 (GRCm39) |
M277T |
possibly damaging |
Het |
| Fbxo11 |
T |
C |
17: 88,299,728 (GRCm39) |
K874R |
probably benign |
Het |
| Fyco1 |
A |
T |
9: 123,658,295 (GRCm39) |
L627Q |
probably damaging |
Het |
| Ghr |
A |
T |
15: 3,349,929 (GRCm39) |
C416* |
probably null |
Het |
| Gm10717 |
C |
T |
9: 3,025,616 (GRCm39) |
S67L |
probably benign |
Het |
| Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
| Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
| Kif13b |
T |
C |
14: 64,995,007 (GRCm39) |
C920R |
probably damaging |
Het |
| Lrp1b |
T |
C |
2: 40,592,816 (GRCm39) |
T3768A |
probably benign |
Het |
| Luzp2 |
T |
G |
7: 54,821,944 (GRCm39) |
S154A |
probably damaging |
Het |
| Or52p1 |
A |
T |
7: 104,266,906 (GRCm39) |
T7S |
probably damaging |
Het |
| Pisd |
C |
A |
5: 32,896,476 (GRCm39) |
|
probably null |
Het |
| Rad51ap2 |
T |
A |
12: 11,508,592 (GRCm39) |
V838D |
probably damaging |
Het |
| Sbf1 |
A |
T |
15: 89,186,929 (GRCm39) |
D816E |
probably damaging |
Het |
| Sp140l2 |
A |
G |
1: 85,231,907 (GRCm39) |
|
probably benign |
Het |
| Stim1 |
T |
C |
7: 102,084,857 (GRCm39) |
V603A |
probably benign |
Het |
| Tinagl1 |
G |
T |
4: 130,061,223 (GRCm39) |
T309K |
probably damaging |
Het |
| Trappc11 |
G |
A |
8: 47,957,029 (GRCm39) |
A799V |
probably damaging |
Het |
| Vmn1r113 |
T |
C |
7: 20,521,943 (GRCm39) |
L245P |
probably damaging |
Het |
| Vmn1r40 |
T |
G |
6: 89,691,291 (GRCm39) |
V36G |
probably damaging |
Het |
| Vmn1r40 |
C |
T |
6: 89,691,285 (GRCm39) |
A34V |
probably benign |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
|
| Other mutations in Clnk |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01328:Clnk
|
APN |
5 |
38,941,871 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL01348:Clnk
|
APN |
5 |
38,870,550 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01901:Clnk
|
APN |
5 |
38,952,321 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02437:Clnk
|
APN |
5 |
38,931,909 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02745:Clnk
|
APN |
5 |
38,893,662 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0138:Clnk
|
UTSW |
5 |
38,931,951 (GRCm39) |
splice site |
probably benign |
|
|
R0196:Clnk
|
UTSW |
5 |
38,927,282 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1522:Clnk
|
UTSW |
5 |
38,952,309 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1958:Clnk
|
UTSW |
5 |
38,863,969 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R2036:Clnk
|
UTSW |
5 |
38,910,143 (GRCm39) |
splice site |
probably null |
|
|
R2238:Clnk
|
UTSW |
5 |
38,921,694 (GRCm39) |
splice site |
probably benign |
|
|
R3788:Clnk
|
UTSW |
5 |
38,872,341 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3931:Clnk
|
UTSW |
5 |
38,925,412 (GRCm39) |
missense |
probably benign |
|
|
R4159:Clnk
|
UTSW |
5 |
38,899,138 (GRCm39) |
intron |
probably benign |
|
|
R4182:Clnk
|
UTSW |
5 |
38,905,193 (GRCm39) |
intron |
probably benign |
|
|
R4686:Clnk
|
UTSW |
5 |
38,899,180 (GRCm39) |
intron |
probably benign |
|
|
R4751:Clnk
|
UTSW |
5 |
38,878,256 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4842:Clnk
|
UTSW |
5 |
38,870,412 (GRCm39) |
splice site |
probably null |
|
|
R5811:Clnk
|
UTSW |
5 |
38,870,490 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6236:Clnk
|
UTSW |
5 |
38,870,542 (GRCm39) |
missense |
probably benign |
0.41 |
|
R7157:Clnk
|
UTSW |
5 |
38,927,234 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R7615:Clnk
|
UTSW |
5 |
38,864,041 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7618:Clnk
|
UTSW |
5 |
38,893,698 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7762:Clnk
|
UTSW |
5 |
38,925,484 (GRCm39) |
missense |
probably benign |
0.24 |
|
R7768:Clnk
|
UTSW |
5 |
38,925,501 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7823:Clnk
|
UTSW |
5 |
38,907,694 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8158:Clnk
|
UTSW |
5 |
38,952,254 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8423:Clnk
|
UTSW |
5 |
38,952,253 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8710:Clnk
|
UTSW |
5 |
38,931,940 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9035:Clnk
|
UTSW |
5 |
38,907,751 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
| Posted On |
2014-05-07 |
Incidental Mutation