Incidental Mutation 'R3931:Clnk'
| ID |
308465 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Clnk
|
| Ensembl Gene |
ENSMUSG00000039315 |
| Gene Name |
cytokine-dependent hematopoietic cell linker |
| Synonyms |
MIST |
| MMRRC Submission |
040918-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.052)
|
| Stock # |
R3931 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
38863805-39034155 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 38925412 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 130
(T130A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132779
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000169819]
[ENSMUST00000171633]
|
| AlphaFold |
Q9QZE2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169819
AA Change: T130A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000128473
Gene: ENSMUSG00000039315
AA Change: T130A
| 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 benign
Transcript: ENSMUST00000171633
AA Change: T130A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000132779
Gene: ENSMUSG00000039315
AA Change: T130A
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 94.8%
|
| Validation Efficiency |
100% (30/30) |
| 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: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A730049H05Rik |
A |
C |
6: 92,811,420 (GRCm39) |
|
probably benign |
Het |
| Cbarp |
A |
G |
10: 79,971,348 (GRCm39) |
L159P |
probably damaging |
Het |
| Ccnd2 |
A |
G |
6: 127,107,422 (GRCm39) |
I249T |
probably damaging |
Het |
| Cerk |
G |
T |
15: 86,039,311 (GRCm39) |
C193* |
probably null |
Het |
| Chrna2 |
A |
G |
14: 66,387,216 (GRCm39) |
E454G |
probably benign |
Het |
| Dcbld2 |
T |
C |
16: 58,285,701 (GRCm39) |
L620P |
probably damaging |
Het |
| Dhx29 |
T |
A |
13: 113,095,499 (GRCm39) |
V942E |
probably damaging |
Het |
| Dnah17 |
C |
T |
11: 117,971,675 (GRCm39) |
|
probably benign |
Het |
| Dnai1 |
G |
A |
4: 41,604,229 (GRCm39) |
C212Y |
probably damaging |
Het |
| Dpep1 |
A |
G |
8: 123,925,518 (GRCm39) |
D57G |
possibly damaging |
Het |
| Gfm2 |
G |
A |
13: 97,311,532 (GRCm39) |
V701I |
probably benign |
Het |
| Grm1 |
C |
T |
10: 10,595,622 (GRCm39) |
A669T |
probably benign |
Het |
| Hsd3b3 |
C |
T |
3: 98,649,492 (GRCm39) |
G277D |
probably damaging |
Het |
| Hsf5 |
A |
G |
11: 87,522,508 (GRCm39) |
Y367C |
probably damaging |
Het |
| Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
| Lipo4 |
C |
T |
19: 33,480,619 (GRCm39) |
V250I |
probably benign |
Het |
| Lrrc14 |
T |
C |
15: 76,597,765 (GRCm39) |
V165A |
probably benign |
Het |
| Map3k9 |
A |
G |
12: 81,819,691 (GRCm39) |
F188L |
probably damaging |
Het |
| Mpo |
A |
G |
11: 87,691,866 (GRCm39) |
Y433C |
probably damaging |
Het |
| Nsd2 |
A |
G |
5: 34,003,461 (GRCm39) |
K185E |
probably benign |
Het |
| Or6n2 |
T |
A |
1: 173,897,147 (GRCm39) |
F94L |
probably damaging |
Het |
| Oxct1 |
T |
A |
15: 4,066,601 (GRCm39) |
N72K |
possibly damaging |
Het |
| Ptpn12 |
A |
G |
5: 21,206,321 (GRCm39) |
I324T |
probably benign |
Het |
| Sez6 |
T |
C |
11: 77,867,708 (GRCm39) |
I875T |
probably damaging |
Het |
| Tpr |
T |
A |
1: 150,311,655 (GRCm39) |
V1811E |
probably damaging |
Het |
| Trpc4 |
A |
G |
3: 54,225,516 (GRCm39) |
D871G |
probably damaging |
Het |
| Upf2 |
A |
G |
2: 6,051,821 (GRCm39) |
E1161G |
unknown |
Het |
| Zp2 |
T |
C |
7: 119,731,580 (GRCm39) |
|
probably benign |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGGTTCATGAGCCCATAAGTC -3'
(R):5'- AGAGATGTGTTTGCCTGGCAC -3'
Sequencing Primer
(F):5'- TGAGCCCATAAGTCACACAATTCAG -3'
(R):5'- AGCTTTGATGACCCCATGAG -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation