Incidental Mutation 'R8011:Tnk2'
| ID |
616923 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tnk2
|
| Ensembl Gene |
ENSMUSG00000022791 |
| Gene Name |
tyrosine kinase, non-receptor, 2 |
| Synonyms |
activated p21cdc42Hs kinase, P21cdc42Hs kinase, Ack, Pyk1, ACK1 |
| MMRRC Submission |
046051-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.449)
|
| Stock # |
R8011 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
32462699-32502311 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 32487183 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 127
(R127C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110777
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000115120]
[ENSMUST00000115121]
[ENSMUST00000115122]
[ENSMUST00000115123]
[ENSMUST00000115124]
[ENSMUST00000115125]
[ENSMUST00000115126]
[ENSMUST00000124585]
[ENSMUST00000131238]
[ENSMUST00000145627]
[ENSMUST00000152361]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115120
|
| SMART Domains |
Protein: ENSMUSP00000110773
Gene: ENSMUSG00000022791
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GTPase_binding
|
1 |
24 |
1.1e-8 |
PFAM |
|
low complexity region
|
247 |
264 |
N/A |
INTRINSIC |
|
Pfam:Inhibitor_Mig-6
|
284 |
351 |
2.9e-30 |
PFAM |
|
low complexity region
|
391 |
419 |
N/A |
INTRINSIC |
|
Pfam:UBA
|
467 |
505 |
2.7e-10 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115121
|
| SMART Domains |
Protein: ENSMUSP00000110774
Gene: ENSMUSG00000022791
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GTPase_binding
|
1 |
24 |
4.5e-9 |
PFAM |
|
low complexity region
|
27 |
34 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115122
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115123
AA Change: R127C
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000110776
Gene: ENSMUSG00000022791
AA Change: R127C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
10 |
21 |
N/A |
INTRINSIC |
|
Blast:TyrKc
|
43 |
79 |
3e-14 |
BLAST |
|
TyrKc
|
126 |
385 |
1.44e-129 |
SMART |
|
SH3
|
391 |
447 |
1.52e-7 |
SMART |
|
low complexity region
|
737 |
754 |
N/A |
INTRINSIC |
|
Pfam:Inhibitor_Mig-6
|
774 |
841 |
3e-30 |
PFAM |
|
low complexity region
|
881 |
909 |
N/A |
INTRINSIC |
|
Pfam:UBA
|
957 |
995 |
1.6e-10 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115124
AA Change: R127C
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000110777
Gene: ENSMUSG00000022791
AA Change: R127C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
10 |
21 |
N/A |
INTRINSIC |
|
Blast:TyrKc
|
43 |
79 |
3e-14 |
BLAST |
|
TyrKc
|
126 |
385 |
1.44e-129 |
SMART |
|
SH3
|
391 |
447 |
1.52e-7 |
SMART |
|
low complexity region
|
517 |
524 |
N/A |
INTRINSIC |
|
low complexity region
|
752 |
769 |
N/A |
INTRINSIC |
|
Pfam:Inhibitor_Mig-6
|
789 |
855 |
5.3e-29 |
PFAM |
|
low complexity region
|
896 |
924 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115125
AA Change: R127C
PolyPhen 2
Score 0.198 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000110778
Gene: ENSMUSG00000022791
AA Change: R127C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
10 |
21 |
N/A |
INTRINSIC |
|
Blast:TyrKc
|
43 |
79 |
3e-14 |
BLAST |
|
TyrKc
|
126 |
385 |
1.44e-129 |
SMART |
|
SH3
|
391 |
447 |
1.52e-7 |
SMART |
|
low complexity region
|
737 |
754 |
N/A |
INTRINSIC |
|
Pfam:Inhibitor_Mig-6
|
774 |
841 |
7.2e-31 |
PFAM |
|
low complexity region
|
881 |
909 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115126
AA Change: R127C
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000110779
Gene: ENSMUSG00000022791
AA Change: R127C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
10 |
21 |
N/A |
INTRINSIC |
|
Blast:TyrKc
|
43 |
79 |
3e-14 |
BLAST |
|
TyrKc
|
126 |
385 |
1.44e-129 |
SMART |
|
SH3
|
391 |
447 |
1.52e-7 |
SMART |
|
low complexity region
|
517 |
524 |
N/A |
INTRINSIC |
|
low complexity region
|
752 |
769 |
N/A |
INTRINSIC |
|
Pfam:Inhibitor_Mig-6
|
789 |
856 |
2.9e-30 |
PFAM |
|
low complexity region
|
896 |
924 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000124585
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000131238
|
| SMART Domains |
Protein: ENSMUSP00000129382
Gene: ENSMUSG00000022791
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GTPase_binding
|
1 |
24 |
1e-9 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000145627
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000152361
|
| SMART Domains |
Protein: ENSMUSP00000125905
Gene: ENSMUSG00000022791
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1jo8a_
|
8 |
38 |
2e-3 |
SMART |
|
Pfam:GTPase_binding
|
39 |
106 |
2.8e-38 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
100% (46/46) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a tyrosine kinase that binds Cdc42Hs in its GTP-bound form and inhibits both the intrinsic and GTPase-activating protein (GAP)-stimulated GTPase activity of Cdc42Hs. This binding is mediated by a unique sequence of 47 amino acids C-terminal to an SH3 domain. The protein may be involved in a regulatory mechanism that sustains the GTP-bound active form of Cdc42Hs and which is directly linked to a tyrosine phosphorylation signal transduction pathway. Several alternatively spliced transcript variants have been identified from this gene, but the full-length nature of only two transcript variants has been determined. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2010315B03Rik |
C |
T |
9: 124,056,529 (GRCm39) |
E132K |
|
Het |
| Acss2 |
T |
C |
2: 155,397,877 (GRCm39) |
I313T |
possibly damaging |
Het |
| Akap13 |
G |
A |
7: 75,380,213 (GRCm39) |
R462H |
probably damaging |
Het |
| Ankrd27 |
T |
C |
7: 35,316,306 (GRCm39) |
V524A |
probably benign |
Het |
| Cacna1e |
T |
C |
1: 154,341,568 (GRCm39) |
I1209V |
probably benign |
Het |
| Cntn3 |
A |
T |
6: 102,414,860 (GRCm39) |
I29N |
possibly damaging |
Het |
| Col5a1 |
G |
A |
2: 27,870,533 (GRCm39) |
|
probably benign |
Het |
| Cttnbp2 |
G |
C |
6: 18,426,092 (GRCm39) |
A762G |
possibly damaging |
Het |
| Edc3 |
C |
A |
9: 57,620,659 (GRCm39) |
|
probably benign |
Het |
| Egflam |
A |
T |
15: 7,276,525 (GRCm39) |
M547K |
possibly damaging |
Het |
| Fgr |
T |
C |
4: 132,725,790 (GRCm39) |
Y400H |
probably damaging |
Het |
| Gaa |
C |
T |
11: 119,163,762 (GRCm39) |
P205S |
probably benign |
Het |
| Gpr6 |
T |
A |
10: 40,946,911 (GRCm39) |
T224S |
probably benign |
Het |
| Hes3 |
T |
C |
4: 152,371,938 (GRCm39) |
|
probably benign |
Het |
| Hydin |
T |
C |
8: 111,310,541 (GRCm39) |
F4079S |
probably damaging |
Het |
| Igf2bp2 |
A |
T |
16: 21,894,849 (GRCm39) |
I366N |
probably damaging |
Het |
| Kmt2c |
A |
G |
5: 25,556,232 (GRCm39) |
V1171A |
probably damaging |
Het |
| Kndc1 |
T |
A |
7: 139,490,536 (GRCm39) |
F346Y |
possibly damaging |
Het |
| Lpin2 |
G |
A |
17: 71,537,370 (GRCm39) |
G306R |
probably benign |
Het |
| Mok |
T |
C |
12: 110,781,351 (GRCm39) |
|
probably benign |
Het |
| Nolc1 |
T |
C |
19: 46,070,023 (GRCm39) |
V265A |
unknown |
Het |
| Ogfr |
GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG |
GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG |
2: 180,237,059 (GRCm39) |
|
probably benign |
Het |
| Or2ah1 |
T |
G |
2: 85,653,957 (GRCm39) |
L214R |
possibly damaging |
Het |
| Or4c103 |
G |
A |
2: 88,513,537 (GRCm39) |
Q180* |
probably null |
Het |
| Or5j1 |
A |
C |
2: 86,879,190 (GRCm39) |
L130R |
probably damaging |
Het |
| Or6b2b |
A |
G |
1: 92,418,997 (GRCm39) |
V160A |
possibly damaging |
Het |
| Parp14 |
G |
A |
16: 35,677,004 (GRCm39) |
T988I |
probably benign |
Het |
| Pdk1 |
A |
T |
2: 71,705,796 (GRCm39) |
Q81H |
probably benign |
Het |
| Plekha6 |
A |
G |
1: 133,191,544 (GRCm39) |
T38A |
probably benign |
Het |
| Pou2f1 |
A |
G |
1: 165,722,472 (GRCm39) |
|
probably null |
Het |
| Rgs6 |
A |
G |
12: 83,163,066 (GRCm39) |
D424G |
probably null |
Het |
| Rnf13 |
T |
G |
3: 57,714,491 (GRCm39) |
Y183* |
probably null |
Het |
| Ryr2 |
A |
T |
13: 11,603,026 (GRCm39) |
|
probably null |
Het |
| Serpinb7 |
T |
A |
1: 107,362,487 (GRCm39) |
S64T |
possibly damaging |
Het |
| Six2 |
T |
C |
17: 85,995,100 (GRCm39) |
E94G |
probably damaging |
Het |
| Slc44a5 |
A |
G |
3: 153,953,447 (GRCm39) |
I276M |
possibly damaging |
Het |
| Smco2 |
A |
G |
6: 146,769,633 (GRCm39) |
Y239C |
probably damaging |
Het |
| Ssx2ip |
T |
C |
3: 146,128,666 (GRCm39) |
S148P |
probably damaging |
Het |
| Tiam2 |
T |
C |
17: 3,498,671 (GRCm39) |
Y816H |
possibly damaging |
Het |
| Tpd52l1 |
T |
C |
10: 31,208,913 (GRCm39) |
N185S |
probably benign |
Het |
| Try5 |
T |
C |
6: 41,290,421 (GRCm39) |
D21G |
probably benign |
Het |
| Vmn2r20 |
A |
G |
6: 123,373,369 (GRCm39) |
V491A |
possibly damaging |
Het |
| Vps54 |
G |
T |
11: 21,225,095 (GRCm39) |
R197L |
probably damaging |
Het |
| Xkr5 |
G |
T |
8: 18,998,736 (GRCm39) |
Y27* |
probably null |
Het |
| Zfp1004 |
A |
G |
2: 150,034,266 (GRCm39) |
S196G |
possibly damaging |
Het |
| Zfp626 |
T |
A |
7: 27,518,140 (GRCm39) |
C374S |
possibly damaging |
Het |
|
| Other mutations in Tnk2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01419:Tnk2
|
APN |
16 |
32,499,498 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02212:Tnk2
|
APN |
16 |
32,498,960 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02445:Tnk2
|
APN |
16 |
32,494,408 (GRCm39) |
missense |
probably benign |
0.00 |
|
junior
|
UTSW |
16 |
32,498,903 (GRCm39) |
missense |
probably benign |
|
|
Rookie
|
UTSW |
16 |
32,498,603 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02799:Tnk2
|
UTSW |
16 |
32,484,699 (GRCm39) |
splice site |
probably benign |
|
|
R0310:Tnk2
|
UTSW |
16 |
32,499,408 (GRCm39) |
missense |
probably benign |
|
|
R0989:Tnk2
|
UTSW |
16 |
32,499,176 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1556:Tnk2
|
UTSW |
16 |
32,489,737 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1851:Tnk2
|
UTSW |
16 |
32,498,280 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1854:Tnk2
|
UTSW |
16 |
32,498,960 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1938:Tnk2
|
UTSW |
16 |
32,482,560 (GRCm39) |
start gained |
probably benign |
|
|
R2137:Tnk2
|
UTSW |
16 |
32,489,620 (GRCm39) |
splice site |
probably null |
|
|
R2189:Tnk2
|
UTSW |
16 |
32,490,239 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3772:Tnk2
|
UTSW |
16 |
32,498,640 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4037:Tnk2
|
UTSW |
16 |
32,489,614 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4413:Tnk2
|
UTSW |
16 |
32,488,319 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4751:Tnk2
|
UTSW |
16 |
32,498,675 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4878:Tnk2
|
UTSW |
16 |
32,498,448 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4983:Tnk2
|
UTSW |
16 |
32,499,283 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5063:Tnk2
|
UTSW |
16 |
32,489,668 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5541:Tnk2
|
UTSW |
16 |
32,488,341 (GRCm39) |
missense |
probably benign |
0.07 |
|
R5759:Tnk2
|
UTSW |
16 |
32,499,482 (GRCm39) |
missense |
probably benign |
|
|
R5888:Tnk2
|
UTSW |
16 |
32,490,185 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6142:Tnk2
|
UTSW |
16 |
32,488,917 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6372:Tnk2
|
UTSW |
16 |
32,498,603 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6717:Tnk2
|
UTSW |
16 |
32,489,687 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6939:Tnk2
|
UTSW |
16 |
32,482,696 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7157:Tnk2
|
UTSW |
16 |
32,499,986 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7292:Tnk2
|
UTSW |
16 |
32,499,618 (GRCm39) |
missense |
probably benign |
|
|
R7362:Tnk2
|
UTSW |
16 |
32,494,338 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7477:Tnk2
|
UTSW |
16 |
32,496,709 (GRCm39) |
splice site |
probably null |
|
|
R7558:Tnk2
|
UTSW |
16 |
32,498,903 (GRCm39) |
missense |
probably benign |
|
|
R7665:Tnk2
|
UTSW |
16 |
32,499,344 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7731:Tnk2
|
UTSW |
16 |
32,488,952 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R7867:Tnk2
|
UTSW |
16 |
32,500,053 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8167:Tnk2
|
UTSW |
16 |
32,499,080 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8738:Tnk2
|
UTSW |
16 |
32,484,718 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9241:Tnk2
|
UTSW |
16 |
32,488,916 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9267:Tnk2
|
UTSW |
16 |
32,494,489 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9504:Tnk2
|
UTSW |
16 |
32,498,961 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9643:Tnk2
|
UTSW |
16 |
32,489,018 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9786:Tnk2
|
UTSW |
16 |
32,498,875 (GRCm39) |
nonsense |
probably null |
|
|
X0063:Tnk2
|
UTSW |
16 |
32,489,668 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTGTCTGAGGCTTACCAGTAG -3'
(R):5'- AACCTGAACATGGCTCAAAAGG -3'
Sequencing Primer
(F):5'- ACTGAGTGCCTCTGGGG -3'
(R):5'- GTGAGTACTTTCACAACTGTCCCTAG -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation