Incidental Mutation 'R7157:Tnk2'
ID |
557401 |
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 |
045258-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.525)
|
Stock # |
R7157 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
16 |
Chromosomal Location |
32462699-32502311 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 32499986 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Glutamic Acid
at position 1017
(G1017E)
|
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: G512E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000110773 Gene: ENSMUSG00000022791 AA Change: G512E
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: G1002E
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000110776 Gene: ENSMUSG00000022791 AA Change: G1002E
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: G1017E
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000110777 Gene: ENSMUSG00000022791 AA Change: G1017E
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: G970E
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000110778 Gene: ENSMUSG00000022791 AA Change: G970E
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: G985E
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000110779 Gene: ENSMUSG00000022791 AA Change: G985E
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: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
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: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2610021A01Rik |
G |
A |
7: 41,276,400 (GRCm39) |
G701D |
probably damaging |
Het |
6030468B19Rik |
T |
A |
11: 117,693,780 (GRCm39) |
N82K |
probably damaging |
Het |
Abca17 |
A |
T |
17: 24,554,564 (GRCm39) |
V130E |
possibly damaging |
Het |
Alpk2 |
T |
A |
18: 65,399,348 (GRCm39) |
K2077* |
probably null |
Het |
Aox1 |
T |
C |
1: 58,322,651 (GRCm39) |
F73S |
probably benign |
Het |
Ap3b1 |
T |
A |
13: 94,668,542 (GRCm39) |
C965* |
probably null |
Het |
Arhgef10 |
T |
A |
8: 14,980,030 (GRCm39) |
V90E |
probably damaging |
Het |
Atr |
T |
A |
9: 95,751,953 (GRCm39) |
H523Q |
probably benign |
Het |
Bicdl1 |
G |
T |
5: 115,789,916 (GRCm39) |
Q511K |
possibly damaging |
Het |
Capn15 |
A |
T |
17: 26,184,228 (GRCm39) |
N150K |
probably damaging |
Het |
Card6 |
A |
T |
15: 5,129,591 (GRCm39) |
W602R |
probably benign |
Het |
Clnk |
A |
T |
5: 38,927,234 (GRCm39) |
S82T |
possibly damaging |
Het |
Cmah |
T |
C |
13: 24,620,612 (GRCm39) |
I282T |
probably damaging |
Het |
Cog8 |
A |
G |
8: 107,779,131 (GRCm39) |
I382T |
probably benign |
Het |
Dhrs7c |
G |
T |
11: 67,700,722 (GRCm39) |
|
probably null |
Het |
Dhrs9 |
T |
A |
2: 69,223,502 (GRCm39) |
D83E |
probably damaging |
Het |
Dmac2l |
A |
T |
12: 69,788,562 (GRCm39) |
N154Y |
probably benign |
Het |
Dmgdh |
G |
A |
13: 93,852,043 (GRCm39) |
G624E |
probably damaging |
Het |
Dnajc30 |
C |
A |
5: 135,093,569 (GRCm39) |
F155L |
probably damaging |
Het |
Drc7 |
A |
C |
8: 95,800,778 (GRCm39) |
K600T |
probably damaging |
Het |
Efhb |
A |
C |
17: 53,707,928 (GRCm39) |
I745S |
probably damaging |
Het |
Elp1 |
ACTTCTTCTTCTTCTTCTTCTTC |
ACTTCTTCTTCTTCTTCTTC |
4: 56,781,176 (GRCm39) |
|
probably benign |
Het |
Fasn |
T |
A |
11: 120,701,291 (GRCm39) |
K1988* |
probably null |
Het |
Gad2 |
T |
C |
2: 22,525,035 (GRCm39) |
L273P |
probably damaging |
Het |
Gm45861 |
A |
T |
8: 28,032,536 (GRCm39) |
K887* |
probably null |
Het |
Gm45861 |
A |
T |
8: 28,032,537 (GRCm39) |
K887I |
unknown |
Het |
Gm9195 |
A |
G |
14: 72,718,221 (GRCm39) |
Y152H |
probably damaging |
Het |
Grip1 |
G |
A |
10: 119,781,061 (GRCm39) |
D237N |
probably damaging |
Het |
Hamp |
A |
C |
7: 30,641,961 (GRCm39) |
C65G |
possibly damaging |
Het |
Hes3 |
A |
G |
4: 152,372,581 (GRCm39) |
|
probably benign |
Het |
Hgh1 |
T |
C |
15: 76,254,650 (GRCm39) |
I342T |
probably damaging |
Het |
Hlcs |
T |
A |
16: 94,069,023 (GRCm39) |
K66* |
probably null |
Het |
Ift80 |
A |
T |
3: 68,898,277 (GRCm39) |
C19* |
probably null |
Het |
Kbtbd12 |
C |
T |
6: 88,595,650 (GRCm39) |
C60Y |
probably damaging |
Het |
Kdm4c |
T |
A |
4: 74,263,804 (GRCm39) |
V696E |
probably benign |
Het |
Lect2 |
A |
G |
13: 56,690,803 (GRCm39) |
I117T |
unknown |
Het |
Lipn |
T |
A |
19: 34,054,390 (GRCm39) |
Y209* |
probably null |
Het |
Lpin3 |
G |
A |
2: 160,740,627 (GRCm39) |
V391I |
probably benign |
Het |
Mocs2 |
A |
T |
13: 114,961,143 (GRCm39) |
I47L |
probably benign |
Het |
Mogs |
T |
A |
6: 83,095,488 (GRCm39) |
H768Q |
probably benign |
Het |
Nbeal1 |
T |
A |
1: 60,276,317 (GRCm39) |
I686N |
probably damaging |
Het |
Nbeal1 |
T |
A |
1: 60,299,793 (GRCm39) |
C1376* |
probably null |
Het |
Ninl |
A |
G |
2: 150,791,263 (GRCm39) |
Y1087H |
possibly damaging |
Het |
Or10a3 |
A |
G |
7: 108,480,475 (GRCm39) |
F113L |
probably benign |
Het |
Or10ak14 |
A |
G |
4: 118,611,615 (GRCm39) |
V42A |
possibly damaging |
Het |
Or4k5 |
A |
G |
14: 50,385,689 (GRCm39) |
L214S |
probably damaging |
Het |
Or51b6b |
A |
C |
7: 103,309,788 (GRCm39) |
L223R |
probably damaging |
Het |
Or6s1 |
A |
G |
14: 51,308,616 (GRCm39) |
V78A |
possibly damaging |
Het |
Or8k30 |
T |
A |
2: 86,339,369 (GRCm39) |
C189S |
probably damaging |
Het |
Pkn1 |
A |
G |
8: 84,398,363 (GRCm39) |
F768S |
probably damaging |
Het |
Plekha2 |
A |
G |
8: 25,553,957 (GRCm39) |
F82L |
probably damaging |
Het |
Ppie |
T |
C |
4: 123,028,900 (GRCm39) |
E111G |
probably benign |
Het |
Rps6ka5 |
T |
C |
12: 100,547,679 (GRCm39) |
Y277C |
probably damaging |
Het |
Scgb2b12 |
A |
G |
7: 32,026,102 (GRCm39) |
V30A |
probably benign |
Het |
Serac1 |
A |
T |
17: 6,124,476 (GRCm39) |
S16T |
probably benign |
Het |
Sf3a3 |
T |
C |
4: 124,616,693 (GRCm39) |
Y192H |
probably damaging |
Het |
Slc14a1 |
A |
G |
18: 78,145,626 (GRCm39) |
V436A |
probably benign |
Het |
Smc3 |
T |
A |
19: 53,630,329 (GRCm39) |
M1112K |
probably damaging |
Het |
Tnn |
T |
A |
1: 159,953,947 (GRCm39) |
K603* |
probably null |
Het |
Trpm6 |
T |
C |
19: 18,815,462 (GRCm39) |
S1183P |
possibly damaging |
Het |
Ttn |
A |
T |
2: 76,614,724 (GRCm39) |
V16964E |
possibly damaging |
Het |
Usp17le |
G |
A |
7: 104,417,696 (GRCm39) |
T482I |
probably benign |
Het |
Vmn1r219 |
T |
A |
13: 23,347,525 (GRCm39) |
M238K |
probably damaging |
Het |
Wfs1 |
C |
T |
5: 37,124,516 (GRCm39) |
G792S |
probably benign |
Het |
Xpa |
A |
T |
4: 46,185,612 (GRCm39) |
L122Q |
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 |
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 |
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'- TATCTGAAGGTACCATCACTTCCTG -3'
(R):5'- TCTCTACCAGCTGAGGACTC -3'
Sequencing Primer
(F):5'- GTACCATCACTTCCTGCCTGC -3'
(R):5'- CAGAGGTAAGTAGGCTTTCCC -3'
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Posted On |
2019-06-26 |