Incidental Mutation 'R7867:Tnk2'
ID |
607875 |
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 |
045919-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.525)
|
Stock # |
R7867 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
16 |
Chromosomal Location |
32462699-32502311 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 32500053 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Histidine
at position 1039
(Q1039H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000110777
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000115120]
[ENSMUST00000115121]
[ENSMUST00000115122]
[ENSMUST00000115123]
[ENSMUST00000115124]
[ENSMUST00000115125]
[ENSMUST00000115126]
[ENSMUST00000131238]
[ENSMUST00000152361]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000115120
AA Change: Q534H
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000110773 Gene: ENSMUSG00000022791 AA Change: Q534H
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 damaging
Transcript: ENSMUST00000115123
AA Change: Q1024H
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000110776 Gene: ENSMUSG00000022791 AA Change: Q1024H
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 damaging
Transcript: ENSMUST00000115124
AA Change: Q1039H
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000110777 Gene: ENSMUSG00000022791 AA Change: Q1039H
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 damaging
Transcript: ENSMUST00000115125
AA Change: Q992H
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000110778 Gene: ENSMUSG00000022791 AA Change: Q992H
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 damaging
Transcript: ENSMUST00000115126
AA Change: Q1007H
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000110779 Gene: ENSMUSG00000022791 AA Change: Q1007H
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: 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: 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: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
Validation Efficiency |
|
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: 69 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
T |
A |
11: 9,212,139 (GRCm39) |
|
probably null |
Het |
Abcf1 |
C |
A |
17: 36,272,890 (GRCm39) |
K252N |
probably damaging |
Het |
Abi3 |
C |
T |
11: 95,724,851 (GRCm39) |
A211T |
possibly damaging |
Het |
Acaca |
A |
T |
11: 84,140,350 (GRCm39) |
D608V |
possibly damaging |
Het |
Akap10 |
A |
G |
11: 61,791,272 (GRCm39) |
Y396H |
probably damaging |
Het |
Ap3b1 |
C |
G |
13: 94,619,771 (GRCm39) |
S778W |
unknown |
Het |
Arb2a |
T |
C |
13: 78,050,837 (GRCm39) |
M165T |
probably benign |
Het |
Baat |
G |
A |
4: 49,502,925 (GRCm39) |
L66F |
probably benign |
Het |
Cachd1 |
A |
G |
4: 100,845,759 (GRCm39) |
N981S |
probably damaging |
Het |
Cacna1c |
C |
T |
6: 118,753,407 (GRCm39) |
R243H |
|
Het |
Cdh23 |
T |
A |
10: 60,150,390 (GRCm39) |
I2527F |
probably damaging |
Het |
Cinp |
A |
G |
12: 110,840,557 (GRCm39) |
V198A |
probably benign |
Het |
Clec4d |
T |
C |
6: 123,244,123 (GRCm39) |
|
probably null |
Het |
Cnn3 |
A |
G |
3: 121,248,704 (GRCm39) |
I204V |
probably benign |
Het |
Cpxm2 |
C |
A |
7: 131,650,800 (GRCm39) |
G620V |
probably damaging |
Het |
Ctrl |
A |
C |
8: 106,659,497 (GRCm39) |
S93A |
probably benign |
Het |
Cyp2d34 |
A |
G |
15: 82,501,425 (GRCm39) |
V301A |
possibly damaging |
Het |
Dnaaf5 |
G |
T |
5: 139,147,565 (GRCm39) |
K376N |
probably damaging |
Het |
Eno2 |
C |
T |
6: 124,740,137 (GRCm39) |
D300N |
probably damaging |
Het |
Entrep3 |
T |
A |
3: 89,093,083 (GRCm39) |
Y280* |
probably null |
Het |
Fam117b |
T |
A |
1: 60,014,046 (GRCm39) |
N440K |
probably damaging |
Het |
Fam131a |
A |
G |
16: 20,514,584 (GRCm39) |
S62G |
probably benign |
Het |
Fancm |
T |
A |
12: 65,163,240 (GRCm39) |
|
probably null |
Het |
Fancm |
A |
G |
12: 65,165,173 (GRCm39) |
D1506G |
probably benign |
Het |
Fhad1 |
C |
A |
4: 141,632,902 (GRCm39) |
V1201L |
probably benign |
Het |
Gdpd4 |
T |
A |
7: 97,623,185 (GRCm39) |
C265* |
probably null |
Het |
Gm3127 |
A |
T |
14: 15,425,888 (GRCm39) |
T98S |
probably null |
Het |
Gpsm1 |
A |
T |
2: 26,230,448 (GRCm39) |
D466V |
probably benign |
Het |
Gramd1a |
T |
G |
7: 30,842,992 (GRCm39) |
K76Q |
probably damaging |
Het |
Gstp3 |
T |
C |
19: 4,108,808 (GRCm39) |
D24G |
probably damaging |
Het |
Kalrn |
G |
A |
16: 33,810,161 (GRCm39) |
T2531I |
possibly damaging |
Het |
Klk7 |
C |
A |
7: 43,462,333 (GRCm39) |
D108E |
probably damaging |
Het |
Klkb1 |
A |
G |
8: 45,740,002 (GRCm39) |
S97P |
probably damaging |
Het |
Krt13 |
T |
C |
11: 100,012,008 (GRCm39) |
D105G |
probably damaging |
Het |
Lingo2 |
T |
A |
4: 35,709,302 (GRCm39) |
H226L |
probably benign |
Het |
Lrba |
T |
C |
3: 86,275,896 (GRCm39) |
S1755P |
probably damaging |
Het |
Marf1 |
A |
G |
16: 13,946,470 (GRCm39) |
V1217A |
probably damaging |
Het |
Mtss1 |
A |
T |
15: 58,842,858 (GRCm39) |
V118E |
possibly damaging |
Het |
Mug1 |
T |
A |
6: 121,850,593 (GRCm39) |
D696E |
probably benign |
Het |
Ndufa3 |
C |
T |
7: 3,623,003 (GRCm39) |
P56L |
probably damaging |
Het |
Nop56 |
T |
A |
2: 130,120,205 (GRCm39) |
C471S |
possibly damaging |
Het |
Obscn |
T |
A |
11: 58,891,652 (GRCm39) |
H6960L |
unknown |
Het |
Or13a22 |
C |
T |
7: 140,073,049 (GRCm39) |
T166I |
probably benign |
Het |
Pcdhb10 |
A |
C |
18: 37,546,619 (GRCm39) |
Q565P |
probably benign |
Het |
Pde6g |
T |
A |
11: 120,338,953 (GRCm39) |
H79L |
possibly damaging |
Het |
Phrf1 |
G |
T |
7: 140,836,524 (GRCm39) |
M265I |
unknown |
Het |
Pkd2 |
T |
C |
5: 104,630,986 (GRCm39) |
F470S |
probably damaging |
Het |
Plekhm1 |
T |
A |
11: 103,271,153 (GRCm39) |
D446V |
probably damaging |
Het |
Prkaca |
A |
T |
8: 84,721,963 (GRCm39) |
T325S |
probably benign |
Het |
Proz |
A |
T |
8: 13,111,027 (GRCm39) |
|
probably benign |
Het |
Pten |
T |
C |
19: 32,792,894 (GRCm39) |
F238L |
probably benign |
Het |
Ptpn21 |
G |
A |
12: 98,671,435 (GRCm39) |
L198F |
probably damaging |
Het |
Rbm5 |
A |
T |
9: 107,628,930 (GRCm39) |
S394T |
probably benign |
Het |
Scaf8 |
T |
G |
17: 3,227,994 (GRCm39) |
S408A |
unknown |
Het |
Slc41a3 |
T |
A |
6: 90,617,909 (GRCm39) |
F312I |
probably damaging |
Het |
Soat2 |
T |
A |
15: 102,059,598 (GRCm39) |
|
probably null |
Het |
Sorcs1 |
C |
A |
19: 50,218,698 (GRCm39) |
G595* |
probably null |
Het |
Spopfm1 |
G |
C |
3: 94,173,154 (GRCm39) |
S50T |
probably benign |
Het |
Stox1 |
G |
T |
10: 62,500,723 (GRCm39) |
D612E |
probably benign |
Het |
Suco |
T |
C |
1: 161,665,365 (GRCm39) |
I530M |
possibly damaging |
Het |
Syne2 |
A |
G |
12: 76,030,501 (GRCm39) |
|
probably null |
Het |
Thbd |
G |
A |
2: 148,249,664 (GRCm39) |
A68V |
probably damaging |
Het |
Tmem109 |
A |
T |
19: 10,855,466 (GRCm39) |
M4K |
unknown |
Het |
Tmub1 |
G |
C |
5: 24,651,664 (GRCm39) |
P85R |
possibly damaging |
Het |
Tpm3 |
T |
C |
3: 89,993,775 (GRCm39) |
L89S |
probably damaging |
Het |
Unc13b |
C |
T |
4: 43,232,573 (GRCm39) |
R432* |
probably null |
Het |
Vmn2r59 |
T |
A |
7: 41,661,707 (GRCm39) |
I703F |
probably damaging |
Het |
Xylt1 |
T |
A |
7: 117,074,749 (GRCm39) |
I122N |
probably benign |
Het |
Zc3h12c |
T |
C |
9: 52,055,248 (GRCm39) |
E187G |
probably 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 |
R8011:Tnk2
|
UTSW |
16 |
32,487,183 (GRCm39) |
missense |
probably benign |
0.00 |
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'- AAGCTGGTTCTGCTCTACCTG -3'
(R):5'- TCTTTCCCAGACAAACGGCC -3'
Sequencing Primer
(F):5'- ACCTGACCCTACCCTCTGG -3'
(R):5'- AGACAAACGGCCTGCCTCTG -3'
|
Posted On |
2019-12-20 |