Incidental Mutation 'IGL01901:Clnk'
ID |
179529 |
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 # |
IGL01901
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
38863805-39034155 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 38952321 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 6
(N6S)
|
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: N6S
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000128473 Gene: ENSMUSG00000039315 AA Change: N6S
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: N6S
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000132779 Gene: ENSMUSG00000039315 AA Change: N6S
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: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam2 |
A |
G |
14: 66,272,678 (GRCm39) |
|
probably benign |
Het |
Aldh1a7 |
T |
G |
19: 20,695,103 (GRCm39) |
Y154S |
probably damaging |
Het |
Casc3 |
A |
G |
11: 98,713,947 (GRCm39) |
D393G |
probably damaging |
Het |
Cd180 |
A |
G |
13: 102,842,936 (GRCm39) |
I661V |
probably benign |
Het |
Cdh1 |
T |
C |
8: 107,384,392 (GRCm39) |
S287P |
probably damaging |
Het |
Cstdc6 |
C |
A |
16: 36,154,625 (GRCm39) |
A11S |
probably damaging |
Het |
Cyp17a1 |
C |
T |
19: 46,659,531 (GRCm39) |
V100M |
possibly damaging |
Het |
Ddhd2 |
A |
G |
8: 26,238,621 (GRCm39) |
V53A |
probably damaging |
Het |
Elovl7 |
T |
A |
13: 108,410,927 (GRCm39) |
|
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 |
Gm14180 |
A |
G |
11: 99,625,053 (GRCm39) |
S22P |
unknown |
Het |
Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
Golga5 |
G |
A |
12: 102,446,061 (GRCm39) |
|
probably null |
Het |
Gpr162 |
A |
T |
6: 124,838,370 (GRCm39) |
F93L |
possibly damaging |
Het |
Kcnh8 |
G |
A |
17: 53,201,148 (GRCm39) |
|
probably benign |
Het |
Lamp3 |
A |
T |
16: 19,492,169 (GRCm39) |
F358L |
probably damaging |
Het |
Mdn1 |
T |
G |
4: 32,669,591 (GRCm39) |
D409E |
probably damaging |
Het |
Ms4a10 |
T |
C |
19: 10,940,374 (GRCm39) |
D211G |
probably benign |
Het |
Ms4a3 |
T |
C |
19: 11,616,630 (GRCm39) |
E4G |
possibly damaging |
Het |
Myo15a |
A |
G |
11: 60,418,260 (GRCm39) |
|
probably benign |
Het |
Or2ag16 |
A |
G |
7: 106,351,752 (GRCm39) |
V281A |
possibly damaging |
Het |
Or4c10b |
A |
G |
2: 89,711,826 (GRCm39) |
I219V |
probably damaging |
Het |
Or51aa2 |
A |
T |
7: 103,188,177 (GRCm39) |
L88Q |
probably damaging |
Het |
Or51q1c |
A |
G |
7: 103,653,274 (GRCm39) |
H264R |
probably damaging |
Het |
Or5b12 |
T |
C |
19: 12,896,947 (GRCm39) |
H242R |
probably damaging |
Het |
Or6c217 |
A |
G |
10: 129,737,722 (GRCm39) |
F286L |
probably benign |
Het |
Penk |
T |
C |
4: 4,134,465 (GRCm39) |
I61V |
probably benign |
Het |
Pkhd1 |
T |
A |
1: 20,290,307 (GRCm39) |
K2860N |
probably benign |
Het |
Prtg |
C |
T |
9: 72,762,348 (GRCm39) |
P492S |
probably damaging |
Het |
Spata31e2 |
A |
G |
1: 26,721,665 (GRCm39) |
F1172L |
probably benign |
Het |
Tdrd7 |
T |
C |
4: 45,989,225 (GRCm39) |
|
probably benign |
Het |
Terf2ip |
A |
G |
8: 112,738,700 (GRCm39) |
N196S |
probably benign |
Het |
Tgtp1 |
T |
C |
11: 48,878,382 (GRCm39) |
N108D |
possibly damaging |
Het |
Thumpd3 |
A |
G |
6: 113,036,932 (GRCm39) |
H277R |
probably benign |
Het |
Tshz2 |
T |
A |
2: 169,727,456 (GRCm39) |
L215Q |
possibly damaging |
Het |
Ube3c |
T |
A |
5: 29,873,005 (GRCm39) |
V1015E |
probably damaging |
Het |
Utrn |
T |
A |
10: 12,516,672 (GRCm39) |
K2307N |
probably damaging |
Het |
Vmn1r75 |
A |
G |
7: 11,614,739 (GRCm39) |
Y157C |
probably damaging |
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 |
IGL01908:Clnk
|
APN |
5 |
38,870,485 (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 |