Incidental Mutation 'R6372:Tnk2'
ID |
513603 |
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 |
044522-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.525)
|
Stock # |
R6372 (G1)
|
Quality Score |
166.009 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
32462699-32502311 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 32498603 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tryptophan to Arginine
at position 639
(W639R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000110779
(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 damaging
Transcript: ENSMUST00000115120
AA Change: W134R
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000110773 Gene: ENSMUSG00000022791 AA Change: W134R
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 damaging
Transcript: ENSMUST00000115121
AA Change: W149R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000110774 Gene: ENSMUSG00000022791 AA Change: W149R
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: W624R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000110776 Gene: ENSMUSG00000022791 AA Change: W624R
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: W639R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000110777 Gene: ENSMUSG00000022791 AA Change: W639R
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: W624R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000110778 Gene: ENSMUSG00000022791 AA Change: W624R
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: W639R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000110779 Gene: ENSMUSG00000022791 AA Change: W639R
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 damaging
Transcript: ENSMUST00000152361
AA Change: W134R
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000125905 Gene: ENSMUSG00000022791 AA Change: W134R
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
|
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 |
noncoding transcript
Transcript: ENSMUST00000168506
|
Meta Mutation Damage Score |
0.2440 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.4%
|
Validation Efficiency |
97% (59/61) |
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: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700113H08Rik |
T |
A |
10: 87,066,088 (GRCm39) |
H136Q |
possibly damaging |
Het |
Aim2 |
T |
A |
1: 173,282,802 (GRCm39) |
|
probably null |
Het |
Atp13a3 |
T |
C |
16: 30,162,273 (GRCm39) |
H696R |
probably damaging |
Het |
Atrnl1 |
T |
C |
19: 57,638,764 (GRCm39) |
S301P |
probably benign |
Het |
Atxn1 |
T |
A |
13: 45,710,932 (GRCm39) |
I667F |
probably damaging |
Het |
Cacnb4 |
T |
A |
2: 52,324,679 (GRCm39) |
Y415F |
probably benign |
Het |
Ccdc183 |
T |
C |
2: 25,506,176 (GRCm39) |
D140G |
probably benign |
Het |
Clec2g |
A |
C |
6: 128,925,726 (GRCm39) |
H45P |
probably benign |
Het |
Col5a3 |
A |
G |
9: 20,696,882 (GRCm39) |
V917A |
probably damaging |
Het |
Cryga |
T |
C |
1: 65,142,204 (GRCm39) |
Y63C |
probably damaging |
Het |
Dnajc28 |
T |
C |
16: 91,414,176 (GRCm39) |
I23V |
probably benign |
Het |
Elovl6 |
T |
C |
3: 129,426,751 (GRCm39) |
F139S |
probably damaging |
Het |
Fcgbp |
A |
G |
7: 27,806,433 (GRCm39) |
T2134A |
probably damaging |
Het |
Fcrl5 |
C |
T |
3: 87,351,501 (GRCm39) |
Q250* |
probably null |
Het |
Gimap1 |
T |
A |
6: 48,720,290 (GRCm39) |
*301K |
probably null |
Het |
Gm17472 |
T |
C |
6: 42,957,823 (GRCm39) |
S31P |
possibly damaging |
Het |
Gm2381 |
G |
A |
7: 42,470,010 (GRCm39) |
A38V |
probably benign |
Het |
Gnl1 |
T |
C |
17: 36,293,427 (GRCm39) |
F204S |
probably damaging |
Het |
Helz2 |
C |
T |
2: 180,875,260 (GRCm39) |
E1745K |
probably damaging |
Het |
Hk1 |
T |
C |
10: 62,127,757 (GRCm39) |
H370R |
probably benign |
Het |
Ighv7-2 |
G |
A |
12: 113,876,075 (GRCm39) |
T10I |
probably benign |
Het |
Itga9 |
A |
G |
9: 118,726,389 (GRCm39) |
K448E |
probably damaging |
Het |
Lama4 |
C |
A |
10: 38,943,948 (GRCm39) |
N750K |
probably benign |
Het |
Megf11 |
T |
C |
9: 64,613,907 (GRCm39) |
Y1077H |
probably damaging |
Het |
Mrpl45 |
T |
C |
11: 97,212,388 (GRCm39) |
|
probably benign |
Het |
Nbeal2 |
T |
C |
9: 110,457,812 (GRCm39) |
D2185G |
possibly damaging |
Het |
Ncoa3 |
C |
T |
2: 165,901,267 (GRCm39) |
S953F |
possibly damaging |
Het |
Nlrc5 |
T |
C |
8: 95,206,378 (GRCm39) |
L743P |
probably damaging |
Het |
Nol4 |
A |
G |
18: 23,171,613 (GRCm39) |
|
probably null |
Het |
Nol9 |
T |
C |
4: 152,130,452 (GRCm39) |
S329P |
probably damaging |
Het |
Ntrk1 |
T |
C |
3: 87,693,355 (GRCm39) |
D259G |
probably benign |
Het |
Or2y11 |
A |
G |
11: 49,442,757 (GRCm39) |
Y61C |
probably damaging |
Het |
Or4k40 |
T |
A |
2: 111,251,147 (GRCm39) |
I50F |
probably benign |
Het |
Or5al5 |
T |
C |
2: 85,961,198 (GRCm39) |
T270A |
possibly damaging |
Het |
Or5d16 |
T |
C |
2: 87,773,319 (GRCm39) |
T218A |
probably benign |
Het |
Or8h8 |
T |
A |
2: 86,753,499 (GRCm39) |
I126F |
probably damaging |
Het |
Pbx4 |
C |
A |
8: 70,324,694 (GRCm39) |
A365E |
possibly damaging |
Het |
Pcdhb19 |
T |
A |
18: 37,630,419 (GRCm39) |
N71K |
probably benign |
Het |
Pde2a |
G |
A |
7: 101,130,599 (GRCm39) |
A80T |
probably benign |
Het |
Psmb5 |
C |
A |
14: 54,854,130 (GRCm39) |
R116L |
probably damaging |
Het |
Recql |
A |
G |
6: 142,322,566 (GRCm39) |
V112A |
probably damaging |
Het |
Rhbdl3 |
C |
A |
11: 80,221,482 (GRCm39) |
L207I |
probably damaging |
Het |
Rtkn |
A |
G |
6: 83,128,882 (GRCm39) |
D459G |
possibly damaging |
Het |
Rubcnl |
C |
A |
14: 75,285,009 (GRCm39) |
S509R |
probably damaging |
Het |
Slc26a8 |
T |
C |
17: 28,863,777 (GRCm39) |
T661A |
probably benign |
Het |
Sspo |
A |
T |
6: 48,449,475 (GRCm39) |
D2472V |
probably damaging |
Het |
Taf4b |
T |
G |
18: 14,937,790 (GRCm39) |
V258G |
probably damaging |
Het |
Tbc1d19 |
T |
G |
5: 54,014,252 (GRCm39) |
S293R |
possibly damaging |
Het |
Tecpr1 |
C |
T |
5: 144,153,776 (GRCm39) |
R159Q |
probably damaging |
Het |
Tlr3 |
A |
G |
8: 45,850,048 (GRCm39) |
S874P |
probably damaging |
Het |
Tpmt |
C |
T |
13: 47,189,370 (GRCm39) |
|
probably null |
Het |
Trappc9 |
T |
A |
15: 72,461,923 (GRCm39) |
D935V |
possibly damaging |
Het |
Trav13d-4 |
T |
C |
14: 53,995,118 (GRCm39) |
V4A |
probably damaging |
Het |
Ubn1 |
C |
T |
16: 4,899,502 (GRCm39) |
T1082I |
possibly damaging |
Het |
Usf2 |
G |
A |
7: 30,654,738 (GRCm39) |
Q35* |
probably null |
Het |
Vmn1r57 |
T |
C |
7: 5,223,826 (GRCm39) |
M117T |
possibly damaging |
Het |
Vmn2r65 |
G |
T |
7: 84,589,861 (GRCm39) |
A685E |
probably damaging |
Het |
Vxn |
G |
A |
1: 9,683,546 (GRCm39) |
E45K |
probably damaging |
Het |
Zeb2 |
T |
C |
2: 44,892,551 (GRCm39) |
E166G |
probably damaging |
Het |
Zfp808 |
T |
C |
13: 62,320,291 (GRCm39) |
S507P |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GTCACACTCATCGACTTCGG -3'
(R):5'- GCCTGGAAAATCTCTGCAGTC -3'
Sequencing Primer
(F):5'- ATCGACTTCGGTGAGGAGC -3'
(R):5'- TGGAAGGAACAGGTTATCCTCC -3'
|
Posted On |
2018-04-27 |