Incidental Mutation 'R7665:Tnk2'
ID |
591891 |
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 |
045739-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.525)
|
Stock # |
R7665 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
32462699-32502311 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 32499344 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Cysteine
at position 886
(R886C)
|
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: R381C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000110773 Gene: ENSMUSG00000022791 AA Change: R381C
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: R871C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000110776 Gene: ENSMUSG00000022791 AA Change: R871C
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: R886C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000110777 Gene: ENSMUSG00000022791 AA Change: R886C
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: R871C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000110778 Gene: ENSMUSG00000022791 AA Change: R871C
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: R886C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000110779 Gene: ENSMUSG00000022791 AA Change: R886C
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: 99.7%
- 20x: 99.2%
|
Validation Efficiency |
100% (72/72) |
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: 71 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930519G04Rik |
A |
G |
5: 115,012,384 (GRCm39) |
|
probably null |
Het |
A830018L16Rik |
T |
C |
1: 12,042,323 (GRCm39) |
S448P |
probably damaging |
Het |
Abca4 |
C |
T |
3: 121,838,139 (GRCm39) |
|
probably benign |
Het |
Ackr2 |
A |
G |
9: 121,738,374 (GRCm39) |
M250V |
probably benign |
Het |
Actn4 |
A |
G |
7: 28,615,632 (GRCm39) |
I147T |
probably damaging |
Het |
Adgrv1 |
C |
T |
13: 81,647,261 (GRCm39) |
S3093N |
probably damaging |
Het |
Arid5b |
C |
T |
10: 67,934,417 (GRCm39) |
G495E |
probably benign |
Het |
Armh1 |
C |
A |
4: 117,070,938 (GRCm39) |
A396S |
probably benign |
Het |
Brwd1 |
G |
A |
16: 95,842,543 (GRCm39) |
T798M |
probably benign |
Het |
Cdk13 |
G |
A |
13: 17,947,138 (GRCm39) |
T540I |
possibly damaging |
Het |
Cdkn1c |
A |
G |
7: 143,014,371 (GRCm39) |
V25A |
possibly damaging |
Het |
Col2a1 |
T |
C |
15: 97,874,581 (GRCm39) |
E1420G |
unknown |
Het |
Dbf4 |
G |
A |
5: 8,447,867 (GRCm39) |
P448S |
probably damaging |
Het |
Dnajb7 |
T |
C |
15: 81,291,620 (GRCm39) |
N239S |
probably benign |
Het |
Dnttip1 |
A |
G |
2: 164,596,061 (GRCm39) |
D102G |
probably damaging |
Het |
Dpp8 |
T |
A |
9: 64,986,000 (GRCm39) |
V830D |
probably damaging |
Het |
Eddm13 |
G |
A |
7: 6,272,891 (GRCm39) |
|
probably null |
Het |
Eef1g |
T |
C |
19: 8,945,653 (GRCm39) |
V29A |
probably benign |
Het |
Enpp2 |
T |
A |
15: 54,702,790 (GRCm39) |
Y906F |
probably damaging |
Het |
Epb41l4a |
A |
G |
18: 34,139,069 (GRCm39) |
L23P |
possibly damaging |
Het |
Exoc1 |
T |
A |
5: 76,691,420 (GRCm39) |
M248K |
probably benign |
Het |
Fam83b |
T |
C |
9: 76,398,157 (GRCm39) |
Y982C |
probably damaging |
Het |
Fat4 |
C |
T |
3: 38,943,327 (GRCm39) |
A740V |
probably benign |
Het |
Fsip2 |
T |
A |
2: 82,812,149 (GRCm39) |
S2823T |
probably benign |
Het |
Gckr |
T |
C |
5: 31,454,899 (GRCm39) |
|
|
Het |
Gpr150 |
A |
T |
13: 76,204,093 (GRCm39) |
V284E |
probably damaging |
Het |
Grtp1 |
T |
G |
8: 13,227,103 (GRCm39) |
I344L |
probably benign |
Het |
Heatr5a |
T |
A |
12: 52,008,313 (GRCm39) |
N10I |
probably damaging |
Het |
Herc2 |
C |
A |
7: 55,802,903 (GRCm39) |
L2109I |
probably damaging |
Het |
Hs1bp3 |
T |
A |
12: 8,367,935 (GRCm39) |
D61E |
probably damaging |
Het |
Ifit1bl1 |
T |
A |
19: 34,572,283 (GRCm39) |
Y58F |
probably benign |
Het |
Itfg1 |
A |
G |
8: 86,490,979 (GRCm39) |
F317L |
probably benign |
Het |
Itsn1 |
T |
C |
16: 91,638,491 (GRCm39) |
I764T |
unknown |
Het |
Med8 |
A |
C |
4: 118,268,853 (GRCm39) |
|
probably null |
Het |
Mpeg1 |
C |
A |
19: 12,440,458 (GRCm39) |
P639T |
probably damaging |
Het |
Mtcl3 |
T |
A |
10: 29,072,393 (GRCm39) |
Y562N |
probably damaging |
Het |
Nedd9 |
A |
G |
13: 41,469,785 (GRCm39) |
L456P |
probably benign |
Het |
Neo1 |
A |
G |
9: 58,833,078 (GRCm39) |
S556P |
probably damaging |
Het |
Nphp3 |
T |
A |
9: 103,882,592 (GRCm39) |
|
probably null |
Het |
Nup205 |
T |
C |
6: 35,154,555 (GRCm39) |
V53A |
possibly damaging |
Het |
Nvl |
A |
T |
1: 180,962,509 (GRCm39) |
S154T |
probably benign |
Het |
Or10h1 |
G |
T |
17: 33,418,603 (GRCm39) |
G194* |
probably null |
Het |
Or1e31 |
A |
T |
11: 73,689,787 (GRCm39) |
N265K |
probably benign |
Het |
Or2ag2 |
A |
T |
7: 106,485,880 (GRCm39) |
V48D |
possibly damaging |
Het |
Or2h2c |
A |
G |
17: 37,422,283 (GRCm39) |
M197T |
probably benign |
Het |
Or51ah3 |
A |
T |
7: 103,210,523 (GRCm39) |
I280F |
probably benign |
Het |
Or9k7 |
T |
A |
10: 130,047,130 (GRCm39) |
|
probably null |
Het |
Parvg |
T |
C |
15: 84,222,002 (GRCm39) |
I243T |
probably damaging |
Het |
Paxip1 |
T |
A |
5: 27,970,736 (GRCm39) |
M538L |
unknown |
Het |
Pgghg |
G |
T |
7: 140,525,382 (GRCm39) |
D428Y |
probably damaging |
Het |
Pik3cd |
C |
T |
4: 149,738,507 (GRCm39) |
V777M |
possibly damaging |
Het |
Plcl2 |
A |
C |
17: 50,914,185 (GRCm39) |
K398T |
probably benign |
Het |
Plxna1 |
A |
T |
6: 89,301,520 (GRCm39) |
|
probably null |
Het |
Rbbp6 |
T |
A |
7: 122,589,255 (GRCm39) |
|
probably null |
Het |
Rbbp6 |
T |
C |
7: 122,593,909 (GRCm39) |
Y514H |
possibly damaging |
Het |
Scin |
T |
A |
12: 40,119,414 (GRCm39) |
N538I |
probably damaging |
Het |
Sdcbp |
A |
G |
4: 6,385,144 (GRCm39) |
D121G |
probably benign |
Het |
Sgk1 |
T |
C |
10: 21,872,561 (GRCm39) |
I311T |
probably damaging |
Het |
Shq1 |
A |
C |
6: 100,550,717 (GRCm39) |
L407W |
probably damaging |
Het |
Sipa1 |
A |
T |
19: 5,701,699 (GRCm39) |
S979T |
probably benign |
Het |
Slc25a37 |
G |
T |
14: 69,487,028 (GRCm39) |
T85K |
probably benign |
Het |
Spag9 |
A |
T |
11: 93,904,480 (GRCm39) |
Q112L |
probably damaging |
Het |
Spg11 |
A |
T |
2: 121,896,748 (GRCm39) |
V1686E |
probably damaging |
Het |
Stap2 |
A |
G |
17: 56,304,909 (GRCm39) |
V291A |
probably benign |
Het |
Tnrc6c |
T |
A |
11: 117,611,777 (GRCm39) |
D138E |
possibly damaging |
Het |
Unc13c |
A |
G |
9: 73,587,756 (GRCm39) |
S1426P |
probably benign |
Het |
Vav1 |
G |
A |
17: 57,604,086 (GRCm39) |
V163M |
probably damaging |
Het |
Vmn2r67 |
T |
A |
7: 84,801,196 (GRCm39) |
K247* |
probably null |
Het |
Zc2hc1c |
T |
C |
12: 85,343,336 (GRCm39) |
V491A |
possibly damaging |
Het |
Zfp51 |
A |
G |
17: 21,683,843 (GRCm39) |
T153A |
probably benign |
Het |
Zyx |
A |
G |
6: 42,333,096 (GRCm39) |
E374G |
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 |
|
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'- TGCCCACCACTCAAAGCTTTG -3'
(R):5'- ATCTGGACCTTGTCTGCTGG -3'
Sequencing Primer
(F):5'- AGCTTTGCCTCAGACCCTAAGTATG -3'
(R):5'- ACCTTGTCTGCTGGCCGAG -3'
|
Posted On |
2019-11-12 |