Incidental Mutation 'R7618:Clnk'
| ID |
588991 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Clnk
|
| Ensembl Gene |
ENSMUSG00000039315 |
| Gene Name |
cytokine-dependent hematopoietic cell linker |
| Synonyms |
MIST |
| MMRRC Submission |
045685-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.052)
|
| Stock # |
R7618 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
38863805-39034155 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 38893698 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 220
(S220T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128473
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000169819]
[ENSMUST00000171633]
|
| AlphaFold |
Q9QZE2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169819
AA Change: S220T
PolyPhen 2
Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000128473
Gene: ENSMUSG00000039315
AA Change: S220T
| 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: S220T
PolyPhen 2
Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000132779
Gene: ENSMUSG00000039315
AA Change: S220T
| 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: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
| Validation Efficiency |
98% (51/52) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap11 |
T |
C |
14: 78,736,300 (GRCm39) |
D1830G |
|
Het |
| Alms1 |
A |
G |
6: 85,655,399 (GRCm39) |
N2846S |
probably benign |
Het |
| Amt |
A |
C |
9: 108,177,077 (GRCm39) |
E228D |
probably damaging |
Het |
| Ankar |
T |
C |
1: 72,714,925 (GRCm39) |
M618V |
probably benign |
Het |
| Ankrd60 |
T |
C |
2: 173,412,834 (GRCm39) |
|
probably null |
Het |
| Aoc1 |
A |
G |
6: 48,883,320 (GRCm39) |
T399A |
possibly damaging |
Het |
| Aqp11 |
T |
A |
7: 97,386,873 (GRCm39) |
I108F |
probably benign |
Het |
| Arfgef3 |
G |
T |
10: 18,522,029 (GRCm39) |
Q666K |
probably damaging |
Het |
| Bin2 |
T |
A |
15: 100,542,894 (GRCm39) |
R430W |
probably damaging |
Het |
| Brme1 |
A |
G |
8: 84,893,499 (GRCm39) |
Q222R |
possibly damaging |
Het |
| Cdh18 |
T |
A |
15: 23,367,056 (GRCm39) |
V254D |
probably damaging |
Het |
| Cfap46 |
A |
T |
7: 139,183,155 (GRCm39) |
S159R |
|
Het |
| Col19a1 |
G |
T |
1: 24,361,165 (GRCm39) |
H608Q |
probably benign |
Het |
| Cplx1 |
C |
T |
5: 108,673,395 (GRCm39) |
E24K |
possibly damaging |
Het |
| Dnah3 |
A |
T |
7: 119,577,601 (GRCm39) |
L2031Q |
probably damaging |
Het |
| Dok1 |
T |
C |
6: 83,009,872 (GRCm39) |
E79G |
probably benign |
Het |
| Eif4g3 |
T |
C |
4: 137,898,429 (GRCm39) |
S902P |
probably damaging |
Het |
| Emilin3 |
T |
A |
2: 160,751,199 (GRCm39) |
E183D |
probably benign |
Het |
| Fam124b |
G |
A |
1: 80,191,554 (GRCm39) |
|
probably benign |
Het |
| Gm9195 |
T |
C |
14: 72,690,275 (GRCm39) |
Y1816C |
probably damaging |
Het |
| Ighv5-9-1 |
T |
A |
12: 113,699,819 (GRCm39) |
I98F |
probably damaging |
Het |
| Il31ra |
G |
A |
13: 112,688,514 (GRCm39) |
P21L |
possibly damaging |
Het |
| Kat6a |
A |
G |
8: 23,352,578 (GRCm39) |
I121V |
possibly damaging |
Het |
| Kif11 |
T |
C |
19: 37,400,008 (GRCm39) |
W832R |
probably benign |
Het |
| Klhl9 |
T |
C |
4: 88,638,772 (GRCm39) |
T490A |
possibly damaging |
Het |
| Lars1 |
G |
T |
18: 42,377,956 (GRCm39) |
A153E |
probably benign |
Het |
| Muc5b |
A |
T |
7: 141,421,334 (GRCm39) |
I4275L |
probably benign |
Het |
| Myo10 |
T |
A |
15: 25,726,561 (GRCm39) |
C294* |
probably null |
Het |
| Nceh1 |
T |
A |
3: 27,237,366 (GRCm39) |
|
probably null |
Het |
| Ncf1 |
T |
A |
5: 134,256,121 (GRCm39) |
T93S |
probably benign |
Het |
| Nfatc2 |
G |
A |
2: 168,376,919 (GRCm39) |
R545C |
probably damaging |
Het |
| Nos1 |
C |
T |
5: 118,042,009 (GRCm39) |
P545S |
probably benign |
Het |
| Ogfod3 |
C |
A |
11: 121,093,804 (GRCm39) |
V69F |
probably damaging |
Het |
| Or4a27 |
A |
T |
2: 88,559,180 (GRCm39) |
Y254* |
probably null |
Het |
| Phf12 |
A |
G |
11: 77,916,960 (GRCm39) |
N272S |
unknown |
Het |
| Prkcz |
T |
A |
4: 155,346,939 (GRCm39) |
I581F |
probably damaging |
Het |
| Rasgrf2 |
T |
C |
13: 92,136,085 (GRCm39) |
H8R |
|
Het |
| Rb1cc1 |
T |
A |
1: 6,335,782 (GRCm39) |
|
probably null |
Het |
| Rcor2 |
T |
A |
19: 7,248,411 (GRCm39) |
M186K |
possibly damaging |
Het |
| Rnf111 |
C |
A |
9: 70,410,614 (GRCm39) |
|
probably benign |
Het |
| Sanbr |
A |
C |
11: 23,534,550 (GRCm39) |
C602W |
possibly damaging |
Het |
| Serinc3 |
A |
T |
2: 163,472,889 (GRCm39) |
F247Y |
possibly damaging |
Het |
| Serpina1c |
T |
A |
12: 103,865,029 (GRCm39) |
I206F |
probably damaging |
Het |
| Slc25a10 |
G |
A |
11: 120,387,797 (GRCm39) |
|
probably null |
Het |
| Syne2 |
T |
G |
12: 75,992,108 (GRCm39) |
H1993Q |
probably benign |
Het |
| Tap1 |
A |
G |
17: 34,407,212 (GRCm39) |
Y120C |
possibly damaging |
Het |
| Tex30 |
A |
T |
1: 44,127,410 (GRCm39) |
|
probably null |
Het |
| Ube2ql1 |
G |
T |
13: 69,887,066 (GRCm39) |
Q132K |
probably benign |
Het |
| Unc13d |
T |
C |
11: 115,957,547 (GRCm39) |
N803D |
probably damaging |
Het |
| Vcan |
G |
A |
13: 89,840,342 (GRCm39) |
S1734F |
probably damaging |
Het |
| Wdfy4 |
T |
C |
14: 32,707,696 (GRCm39) |
Y2630C |
|
Het |
| Wdr93 |
A |
G |
7: 79,435,474 (GRCm39) |
T668A |
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 |
|
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'- TCCATGTTTTCCAGAACAGAAGG -3'
(R):5'- GGGAAAATCCAGTAATGTGTGC -3'
Sequencing Primer
(F):5'- CAGAACAGAAGGTCAAAAATTTCCTG -3'
(R):5'- GGAAAATCCAGTAATGTGTGCTTTAC -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation