Incidental Mutation 'IGL01419:Tnk2'
ID |
80352 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Tnk2
|
Ensembl Gene |
ENSMUSG00000022791 |
Gene Name |
tyrosine kinase, non-receptor, 2 |
Synonyms |
activated p21cdc42Hs kinase, P21cdc42Hs kinase, Ack, Pyk1, ACK1 |
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.525)
|
Stock # |
IGL01419
|
Quality Score |
|
Status
|
|
Chromosome |
16 |
Chromosomal Location |
32462699-32502311 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 32499498 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 432
(N432S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000110773
(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: N432S
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000110773 Gene: ENSMUSG00000022791 AA Change: N432S
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: N922S
PolyPhen 2
Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000110776 Gene: ENSMUSG00000022791 AA Change: N922S
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: N937S
PolyPhen 2
Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000110777 Gene: ENSMUSG00000022791 AA Change: N937S
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 |
possibly damaging
Transcript: ENSMUST00000115125
AA Change: N922S
PolyPhen 2
Score 0.501 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000110778 Gene: ENSMUSG00000022791 AA Change: N922S
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: N937S
PolyPhen 2
Score 0.434 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000110779 Gene: ENSMUSG00000022791 AA Change: N937S
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 |
noncoding transcript
Transcript: ENSMUST00000168506
|
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232650
|
Coding Region Coverage |
|
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: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca2 |
A |
T |
2: 25,327,526 (GRCm39) |
T672S |
probably damaging |
Het |
Adamts14 |
A |
T |
10: 61,041,321 (GRCm39) |
|
probably benign |
Het |
Adgrv1 |
T |
C |
13: 81,705,277 (GRCm39) |
E791G |
probably damaging |
Het |
Alkbh8 |
A |
G |
9: 3,385,354 (GRCm39) |
R584G |
probably damaging |
Het |
Apob |
A |
T |
12: 8,052,251 (GRCm39) |
I1218F |
probably damaging |
Het |
Atp5f1a |
T |
C |
18: 77,865,233 (GRCm39) |
S52P |
probably damaging |
Het |
B4galnt3 |
A |
G |
6: 120,192,351 (GRCm39) |
S462P |
possibly damaging |
Het |
Bdkrb1 |
A |
G |
12: 105,571,040 (GRCm39) |
H202R |
possibly damaging |
Het |
Bltp1 |
T |
C |
3: 37,102,270 (GRCm39) |
S1323P |
probably damaging |
Het |
Cd300lf |
T |
C |
11: 115,017,180 (GRCm39) |
K48E |
probably benign |
Het |
Cfhr4 |
T |
C |
1: 139,667,382 (GRCm39) |
|
probably null |
Het |
Chuk |
A |
T |
19: 44,085,420 (GRCm39) |
I242K |
probably damaging |
Het |
Csde1 |
A |
G |
3: 102,946,086 (GRCm39) |
T27A |
probably damaging |
Het |
D930048N14Rik |
C |
T |
11: 51,545,603 (GRCm39) |
|
probably benign |
Het |
Depdc7 |
A |
T |
2: 104,552,455 (GRCm39) |
Y451N |
possibly damaging |
Het |
Diaph3 |
C |
A |
14: 87,202,989 (GRCm39) |
G623* |
probably null |
Het |
Dlc1 |
T |
C |
8: 37,317,371 (GRCm39) |
T435A |
probably benign |
Het |
Dock8 |
A |
G |
19: 25,096,816 (GRCm39) |
S575G |
probably benign |
Het |
Fbxw22 |
T |
A |
9: 109,210,790 (GRCm39) |
Y407F |
probably benign |
Het |
Fzd4 |
C |
A |
7: 89,056,943 (GRCm39) |
A330E |
probably damaging |
Het |
Gm17415 |
A |
G |
1: 93,349,672 (GRCm39) |
|
probably benign |
Het |
Gnat1 |
C |
T |
9: 107,556,633 (GRCm39) |
|
probably null |
Het |
Gtf3c4 |
T |
C |
2: 28,725,081 (GRCm39) |
Y76C |
probably damaging |
Het |
Heatr5b |
G |
A |
17: 79,103,939 (GRCm39) |
H1079Y |
probably benign |
Het |
Helz |
T |
G |
11: 107,577,340 (GRCm39) |
I1897S |
unknown |
Het |
Hspa12a |
T |
C |
19: 58,816,681 (GRCm39) |
|
probably null |
Het |
Kcne1 |
G |
T |
16: 92,145,534 (GRCm39) |
F103L |
probably benign |
Het |
Lrrc20 |
A |
T |
10: 61,383,874 (GRCm39) |
S94C |
probably damaging |
Het |
Lrrc8a |
A |
G |
2: 30,147,111 (GRCm39) |
T642A |
probably benign |
Het |
Ly6g5b |
A |
G |
17: 35,333,494 (GRCm39) |
L106P |
probably benign |
Het |
Lyst |
A |
G |
13: 13,810,423 (GRCm39) |
S698G |
probably benign |
Het |
Ndrg1 |
A |
G |
15: 66,802,900 (GRCm39) |
V334A |
probably benign |
Het |
Neb |
A |
T |
2: 52,116,545 (GRCm39) |
Y964* |
probably null |
Het |
Or4c123 |
T |
C |
2: 89,126,689 (GRCm39) |
|
probably benign |
Het |
Or8k3 |
A |
T |
2: 86,058,973 (GRCm39) |
I114N |
possibly damaging |
Het |
Parp10 |
A |
G |
15: 76,125,588 (GRCm39) |
F497L |
probably damaging |
Het |
Pdss1 |
A |
G |
2: 22,825,589 (GRCm39) |
M343V |
possibly damaging |
Het |
Phactr3 |
C |
T |
2: 177,920,855 (GRCm39) |
T231I |
probably benign |
Het |
Plekhh2 |
A |
T |
17: 84,890,980 (GRCm39) |
|
probably benign |
Het |
Ppp1r12c |
A |
C |
7: 4,489,351 (GRCm39) |
|
probably null |
Het |
Prdm2 |
G |
T |
4: 142,860,218 (GRCm39) |
P1024H |
probably damaging |
Het |
Prkacb |
A |
T |
3: 146,461,448 (GRCm39) |
M1K |
probably null |
Het |
Prkdc |
C |
A |
16: 15,653,030 (GRCm39) |
P3835Q |
probably damaging |
Het |
Rps27a |
T |
C |
11: 29,496,353 (GRCm39) |
T87A |
probably benign |
Het |
Ryr2 |
T |
A |
13: 11,814,723 (GRCm39) |
E683V |
possibly damaging |
Het |
Sbk2 |
A |
G |
7: 4,960,528 (GRCm39) |
L214P |
probably damaging |
Het |
Sema4g |
A |
G |
19: 44,985,835 (GRCm39) |
S250G |
probably benign |
Het |
Slc27a6 |
T |
A |
18: 58,742,281 (GRCm39) |
D498E |
probably benign |
Het |
Tarbp1 |
T |
C |
8: 127,154,894 (GRCm39) |
D1410G |
probably benign |
Het |
Tas2r134 |
T |
A |
2: 51,517,759 (GRCm39) |
Y79* |
probably null |
Het |
Tie1 |
T |
C |
4: 118,333,295 (GRCm39) |
D857G |
probably damaging |
Het |
Tubg2 |
C |
A |
11: 101,049,883 (GRCm39) |
D176E |
probably benign |
Het |
Ugt2b34 |
A |
T |
5: 87,039,264 (GRCm39) |
W466R |
probably damaging |
Het |
Usp47 |
T |
A |
7: 111,687,118 (GRCm39) |
M692K |
possibly damaging |
Het |
Vmn2r106 |
T |
C |
17: 20,499,807 (GRCm39) |
K143E |
probably benign |
Het |
Vmn2r118 |
G |
A |
17: 55,900,000 (GRCm39) |
L635F |
probably benign |
Het |
Vmn2r16 |
C |
T |
5: 109,510,267 (GRCm39) |
|
probably benign |
Het |
Vmn2r76 |
A |
T |
7: 85,874,910 (GRCm39) |
M689K |
probably benign |
Het |
Xkr6 |
T |
C |
14: 64,056,325 (GRCm39) |
Y79H |
probably benign |
Het |
Zdhhc6 |
A |
G |
19: 55,298,186 (GRCm39) |
F224L |
probably benign |
Het |
Zfp493 |
T |
G |
13: 67,934,921 (GRCm39) |
I291M |
probably benign |
Het |
|
Other mutations in Tnk2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
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 |
|
Posted On |
2013-11-05 |