Incidental Mutation 'R8423:Clnk'
| ID |
653297 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Clnk
|
| Ensembl Gene |
ENSMUSG00000039315 |
| Gene Name |
cytokine-dependent hematopoietic cell linker |
| Synonyms |
MIST |
| MMRRC Submission |
067899-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.052)
|
| Stock # |
R8423 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
38863805-39034155 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 38952253 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128473
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000169819]
[ENSMUST00000171633]
|
| AlphaFold |
Q9QZE2 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000169819
|
| SMART Domains |
Protein: ENSMUSP00000128473
Gene: ENSMUSG00000039315
| 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
|
| SMART Domains |
Protein: ENSMUSP00000132779
Gene: ENSMUSG00000039315
| 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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| Validation Efficiency |
98% (46/47) |
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam6b |
A |
G |
12: 113,454,530 (GRCm39) |
D449G |
possibly damaging |
Het |
| Ampd1 |
T |
C |
3: 102,988,305 (GRCm39) |
S83P |
probably benign |
Het |
| Bub1 |
G |
A |
2: 127,649,750 (GRCm39) |
L703F |
probably benign |
Het |
| C1rb |
T |
A |
6: 124,551,617 (GRCm39) |
D242E |
probably damaging |
Het |
| Carf |
T |
A |
1: 60,189,752 (GRCm39) |
L659Q |
possibly damaging |
Het |
| Carmil3 |
A |
G |
14: 55,736,522 (GRCm39) |
N662S |
probably damaging |
Het |
| Ccno |
A |
G |
13: 113,124,678 (GRCm39) |
S83G |
possibly damaging |
Het |
| Chd3 |
A |
T |
11: 69,245,252 (GRCm39) |
Y1155* |
probably null |
Het |
| Clec16a |
A |
G |
16: 10,394,527 (GRCm39) |
E295G |
probably benign |
Het |
| Clvs2 |
T |
C |
10: 33,498,855 (GRCm39) |
D25G |
possibly damaging |
Het |
| Cnr2 |
C |
T |
4: 135,644,827 (GRCm39) |
R302W |
probably damaging |
Het |
| Col20a1 |
A |
G |
2: 180,640,498 (GRCm39) |
T594A |
probably damaging |
Het |
| Dclk3 |
C |
T |
9: 111,297,787 (GRCm39) |
R444W |
possibly damaging |
Het |
| Dmxl1 |
T |
C |
18: 49,998,183 (GRCm39) |
V761A |
probably damaging |
Het |
| Dnah7a |
C |
A |
1: 53,512,063 (GRCm39) |
K2999N |
possibly damaging |
Het |
| Dusp28 |
T |
C |
1: 92,834,906 (GRCm39) |
S44P |
probably damaging |
Het |
| Enpep |
T |
G |
3: 129,102,774 (GRCm39) |
N394T |
probably damaging |
Het |
| Fam135a |
A |
T |
1: 24,060,998 (GRCm39) |
F1343I |
probably damaging |
Het |
| Fbxl12 |
C |
A |
9: 20,550,160 (GRCm39) |
R165L |
possibly damaging |
Het |
| Fbxo40 |
A |
T |
16: 36,790,947 (GRCm39) |
H54Q |
probably damaging |
Het |
| Galnt9 |
A |
G |
5: 110,744,111 (GRCm39) |
D315G |
probably benign |
Het |
| Gbp4 |
T |
A |
5: 105,267,800 (GRCm39) |
D482V |
probably damaging |
Het |
| Gm17175 |
T |
A |
14: 51,809,070 (GRCm39) |
I99F |
possibly damaging |
Het |
| Heatr4 |
A |
G |
12: 84,027,104 (GRCm39) |
F51S |
probably benign |
Het |
| Herc1 |
T |
C |
9: 66,415,442 (GRCm39) |
S4806P |
probably damaging |
Het |
| Hoxc11 |
G |
A |
15: 102,863,177 (GRCm39) |
V73I |
possibly damaging |
Het |
| Knl1 |
T |
G |
2: 118,900,513 (GRCm39) |
I738S |
probably damaging |
Het |
| Lcor |
T |
C |
19: 41,573,888 (GRCm39) |
I881T |
possibly damaging |
Het |
| Lipt2 |
T |
C |
7: 99,809,450 (GRCm39) |
F179S |
probably damaging |
Het |
| Lrrc8b |
G |
A |
5: 105,628,622 (GRCm39) |
V323M |
probably damaging |
Het |
| Ltbp1 |
T |
C |
17: 75,599,852 (GRCm39) |
S665P |
probably benign |
Het |
| Miga1 |
A |
T |
3: 152,028,045 (GRCm39) |
D161E |
probably benign |
Het |
| Mynn |
A |
G |
3: 30,657,933 (GRCm39) |
T84A |
probably benign |
Het |
| Or13c7d |
T |
C |
4: 43,770,598 (GRCm39) |
S138G |
possibly damaging |
Het |
| Or3a1b |
T |
C |
11: 74,012,492 (GRCm39) |
F126L |
probably benign |
Het |
| Or4a75 |
A |
T |
2: 89,448,331 (GRCm39) |
D68E |
probably damaging |
Het |
| Pik3r3 |
C |
T |
4: 116,079,572 (GRCm39) |
S23L |
probably benign |
Het |
| Plat |
G |
T |
8: 23,262,248 (GRCm39) |
G91W |
probably damaging |
Het |
| Plscr4 |
C |
T |
9: 92,372,843 (GRCm39) |
R322* |
probably null |
Het |
| Ralgapa1 |
A |
G |
12: 55,705,847 (GRCm39) |
S1892P |
probably damaging |
Het |
| Slc6a18 |
T |
A |
13: 73,813,693 (GRCm39) |
Q540L |
probably benign |
Het |
| Tfap2a |
A |
T |
13: 40,872,706 (GRCm39) |
N323K |
possibly damaging |
Het |
| Tgm1 |
A |
T |
14: 55,943,100 (GRCm39) |
M580K |
probably benign |
Het |
| Tnrc6b |
G |
A |
15: 80,813,619 (GRCm39) |
G1792D |
unknown |
Het |
| Trim66 |
T |
A |
7: 109,074,599 (GRCm39) |
Q554L |
possibly damaging |
Het |
| Ttc28 |
G |
A |
5: 111,381,207 (GRCm39) |
D1240N |
probably benign |
Het |
| Vmn1r238 |
G |
T |
18: 3,123,365 (GRCm39) |
C16* |
probably null |
Het |
| Vmn1r6 |
G |
A |
6: 56,979,495 (GRCm39) |
M52I |
probably benign |
Het |
| Zfp61 |
A |
G |
7: 23,991,459 (GRCm39) |
F231L |
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 |
|
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 |
|
|
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'- TACACCCTAGCTGGCTATCC -3'
(R):5'- TTTAGCCCCAGTGGAGATGC -3'
Sequencing Primer
(F):5'- CGACTTTGTGAAGTAATCCGATGAG -3'
(R):5'- TTACTCAAATCCGACTGGGGG -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation