Incidental Mutation 'IGL02445:Tnk2'
ID |
293544 |
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 # |
IGL02445
|
Quality Score |
|
Status
|
|
Chromosome |
16 |
Chromosomal Location |
32462699-32502311 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 32494408 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 442
(V442A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000110777
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000115120]
[ENSMUST00000115121]
[ENSMUST00000115122]
[ENSMUST00000115123]
[ENSMUST00000115124]
[ENSMUST00000115125]
[ENSMUST00000115126]
[ENSMUST00000152361]
[ENSMUST00000131238]
|
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: V442A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000110776 Gene: ENSMUSG00000022791 AA Change: V442A
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: V442A
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000110777 Gene: ENSMUSG00000022791 AA Change: V442A
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: V442A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000110778 Gene: ENSMUSG00000022791 AA Change: V442A
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 |
noncoding transcript
Transcript: ENSMUST00000168506
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000115126
AA Change: V442A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000110779 Gene: ENSMUSG00000022791 AA Change: V442A
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: 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: ENSMUST00000137044
|
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 |
|
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: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acacb |
C |
T |
5: 114,383,198 (GRCm39) |
T2127M |
probably damaging |
Het |
Acp2 |
A |
G |
2: 91,036,606 (GRCm39) |
D175G |
possibly damaging |
Het |
Adamts12 |
T |
C |
15: 11,286,798 (GRCm39) |
L801P |
probably damaging |
Het |
Adcy10 |
T |
G |
1: 165,398,313 (GRCm39) |
V1470G |
possibly damaging |
Het |
Ankar |
T |
G |
1: 72,705,524 (GRCm39) |
K829Q |
probably benign |
Het |
Arhgef10l |
T |
C |
4: 140,274,318 (GRCm39) |
Y531C |
probably benign |
Het |
Atm |
T |
C |
9: 53,365,630 (GRCm39) |
I2590V |
probably benign |
Het |
Brme1 |
T |
A |
8: 84,886,137 (GRCm39) |
M31K |
probably benign |
Het |
Cblb |
T |
C |
16: 51,986,668 (GRCm39) |
L485P |
probably damaging |
Het |
Col4a1 |
T |
C |
8: 11,283,911 (GRCm39) |
|
probably benign |
Het |
Coprs |
T |
C |
8: 13,935,797 (GRCm39) |
K74R |
possibly damaging |
Het |
Cul3 |
A |
T |
1: 80,281,886 (GRCm39) |
L31M |
possibly damaging |
Het |
Cyp3a59 |
C |
A |
5: 146,033,463 (GRCm39) |
Q200K |
probably benign |
Het |
Ddx19b |
C |
A |
8: 111,735,456 (GRCm39) |
V402L |
probably damaging |
Het |
Disc1 |
T |
A |
8: 125,875,142 (GRCm39) |
|
probably benign |
Het |
Dsg4 |
C |
T |
18: 20,579,307 (GRCm39) |
|
probably benign |
Het |
Dspp |
A |
C |
5: 104,324,963 (GRCm39) |
Y442S |
probably damaging |
Het |
Dtl |
C |
T |
1: 191,290,172 (GRCm39) |
|
probably null |
Het |
Ezh1 |
A |
C |
11: 101,101,513 (GRCm39) |
V175G |
possibly damaging |
Het |
Hepacam2 |
C |
T |
6: 3,483,481 (GRCm39) |
G100D |
probably damaging |
Het |
Herc1 |
T |
A |
9: 66,340,764 (GRCm39) |
H1704Q |
possibly damaging |
Het |
Itprid2 |
G |
A |
2: 79,487,842 (GRCm39) |
E642K |
probably damaging |
Het |
Kif26a |
T |
C |
12: 112,140,177 (GRCm39) |
S469P |
probably damaging |
Het |
Lefty1 |
T |
C |
1: 180,765,242 (GRCm39) |
M270T |
probably benign |
Het |
Nap1l3 |
A |
T |
X: 121,305,752 (GRCm39) |
V322D |
probably damaging |
Het |
Ndufv2 |
A |
G |
17: 66,387,889 (GRCm39) |
|
probably benign |
Het |
Or14j5 |
A |
T |
17: 38,162,008 (GRCm39) |
H175L |
probably damaging |
Het |
Or4p18 |
G |
A |
2: 88,232,456 (GRCm39) |
T274I |
possibly damaging |
Het |
Or8b55 |
T |
C |
9: 38,726,901 (GRCm39) |
I34T |
possibly damaging |
Het |
Otol1 |
A |
T |
3: 69,935,367 (GRCm39) |
D453V |
probably damaging |
Het |
Papolb |
G |
A |
5: 142,514,480 (GRCm39) |
H388Y |
probably benign |
Het |
Ppp1r10 |
A |
G |
17: 36,237,094 (GRCm39) |
E128G |
probably damaging |
Het |
Prss12 |
T |
A |
3: 123,280,669 (GRCm39) |
D451E |
probably damaging |
Het |
Psmc1 |
T |
C |
12: 100,081,087 (GRCm39) |
|
probably benign |
Het |
Pygo1 |
T |
A |
9: 72,833,222 (GRCm39) |
I10N |
probably benign |
Het |
Rab31 |
C |
T |
17: 66,028,998 (GRCm39) |
|
probably null |
Het |
Ret |
G |
A |
6: 118,158,860 (GRCm39) |
T184I |
probably damaging |
Het |
Rhd |
A |
T |
4: 134,611,481 (GRCm39) |
M214L |
possibly damaging |
Het |
Ripor3 |
C |
A |
2: 167,834,682 (GRCm39) |
|
probably benign |
Het |
Sec16a |
A |
G |
2: 26,312,052 (GRCm39) |
L2036P |
probably benign |
Het |
Slc26a3 |
C |
A |
12: 31,507,051 (GRCm39) |
D335E |
possibly damaging |
Het |
Taf6 |
A |
G |
5: 138,182,756 (GRCm39) |
|
probably benign |
Het |
Virma |
A |
G |
4: 11,527,029 (GRCm39) |
M1143V |
probably damaging |
Het |
Vmn2r77 |
A |
T |
7: 86,452,848 (GRCm39) |
R522* |
probably null |
Het |
Vmn2r-ps129 |
A |
G |
17: 23,227,393 (GRCm39) |
|
noncoding transcript |
Het |
Zfp473 |
A |
G |
7: 44,383,107 (GRCm39) |
C408R |
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 |
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 |
2015-04-16 |