Incidental Mutation 'R9643:Tnk2'
| ID |
726687 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.525)
|
| Stock # |
R9643 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
32462699-32502311 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 32489018 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 286
(M286K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110777
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000115120]
[ENSMUST00000115121]
[ENSMUST00000115122]
[ENSMUST00000115123]
[ENSMUST00000115124]
[ENSMUST00000115125]
[ENSMUST00000115126]
[ENSMUST00000131238]
[ENSMUST00000145627]
[ENSMUST00000152361]
|
| 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 damaging
Transcript: ENSMUST00000115123
AA Change: M286K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000110776
Gene: ENSMUSG00000022791
AA Change: M286K
| 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: M286K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000110777
Gene: ENSMUSG00000022791
AA Change: M286K
| 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: M286K
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000110778
Gene: ENSMUSG00000022791
AA Change: M286K
| 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: M286K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000110779
Gene: ENSMUSG00000022791
AA Change: M286K
| 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: ENSMUST00000145627
|
| 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: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
A |
G |
12: 71,211,189 (GRCm39) |
D641G |
possibly damaging |
Het |
| 4921539E11Rik |
T |
C |
4: 103,092,666 (GRCm39) |
E272G |
unknown |
Het |
| Abca16 |
C |
T |
7: 120,065,023 (GRCm39) |
T560I |
possibly damaging |
Het |
| Adcy3 |
A |
G |
12: 4,259,455 (GRCm39) |
R911G |
probably damaging |
Het |
| Adgra2 |
A |
G |
8: 27,612,031 (GRCm39) |
T1327A |
possibly damaging |
Het |
| Aldh9a1 |
T |
C |
1: 167,184,904 (GRCm39) |
V272A |
possibly damaging |
Het |
| Ankfn1 |
T |
A |
11: 89,396,167 (GRCm39) |
H193L |
probably benign |
Het |
| Asb1 |
A |
G |
1: 91,480,116 (GRCm39) |
R280G |
probably benign |
Het |
| Atg14 |
G |
T |
14: 47,788,780 (GRCm39) |
A191E |
probably damaging |
Het |
| Bcl9 |
G |
T |
3: 97,112,960 (GRCm39) |
P1165Q |
possibly damaging |
Het |
| Cdk8 |
G |
A |
5: 146,235,664 (GRCm39) |
A264T |
probably damaging |
Het |
| Cep152 |
G |
A |
2: 125,406,150 (GRCm39) |
Q1461* |
probably null |
Het |
| Cep170b |
G |
T |
12: 112,704,045 (GRCm39) |
W659L |
probably damaging |
Het |
| Cep57l1 |
T |
C |
10: 41,597,626 (GRCm39) |
E335G |
probably damaging |
Het |
| Cpt1b |
T |
A |
15: 89,303,229 (GRCm39) |
T609S |
possibly damaging |
Het |
| Cyp2c50 |
A |
T |
19: 40,086,512 (GRCm39) |
I359F |
probably damaging |
Het |
| Dpf1 |
T |
A |
7: 29,013,742 (GRCm39) |
N272K |
probably damaging |
Het |
| Fsip2 |
A |
G |
2: 82,821,984 (GRCm39) |
T5906A |
possibly damaging |
Het |
| Gin1 |
A |
T |
1: 97,712,498 (GRCm39) |
R220S |
probably benign |
Het |
| Gm30083 |
T |
C |
14: 33,736,861 (GRCm39) |
Y32C |
probably benign |
Het |
| Gm45861 |
A |
G |
8: 27,994,083 (GRCm39) |
E445G |
unknown |
Het |
| Golga2 |
T |
C |
2: 32,193,874 (GRCm39) |
S567P |
probably damaging |
Het |
| Gpr89 |
A |
G |
3: 96,780,813 (GRCm39) |
V353A |
probably damaging |
Het |
| Grin2d |
T |
C |
7: 45,506,948 (GRCm39) |
K509R |
possibly damaging |
Het |
| Hip1r |
T |
C |
5: 124,139,319 (GRCm39) |
I904T |
probably damaging |
Het |
| Ikbke |
T |
A |
1: 131,187,022 (GRCm39) |
|
probably null |
Het |
| Il1r1 |
T |
A |
1: 40,341,532 (GRCm39) |
C315S |
probably damaging |
Het |
| Ireb2 |
T |
A |
9: 54,789,730 (GRCm39) |
F135I |
possibly damaging |
Het |
| Jakmip3 |
C |
T |
7: 138,621,915 (GRCm39) |
L272F |
probably damaging |
Het |
| Kntc1 |
T |
A |
5: 123,949,440 (GRCm39) |
F1937Y |
probably damaging |
Het |
| Krtap4-16 |
G |
A |
11: 99,742,271 (GRCm39) |
T43I |
unknown |
Het |
| Lats2 |
A |
G |
14: 57,936,875 (GRCm39) |
V538A |
possibly damaging |
Het |
| Megf8 |
T |
A |
7: 25,046,907 (GRCm39) |
W1597R |
probably damaging |
Het |
| Mideas |
A |
T |
12: 84,219,885 (GRCm39) |
D356E |
probably benign |
Het |
| Mtus2 |
A |
T |
5: 148,014,025 (GRCm39) |
T273S |
probably benign |
Het |
| Nsun6 |
T |
A |
2: 15,047,106 (GRCm39) |
E81D |
probably benign |
Het |
| Or13c7 |
G |
A |
4: 43,855,183 (GRCm39) |
M291I |
probably benign |
Het |
| Or4c125 |
A |
T |
2: 89,170,517 (GRCm39) |
I43K |
probably damaging |
Het |
| Or56a41 |
A |
G |
7: 104,740,445 (GRCm39) |
F134L |
probably benign |
Het |
| Or8c10 |
A |
G |
9: 38,278,912 (GRCm39) |
I13M |
probably damaging |
Het |
| Or8k23 |
A |
G |
2: 86,186,408 (GRCm39) |
F106S |
probably benign |
Het |
| Oxsm |
T |
C |
14: 16,241,000 (GRCm38) |
T350A |
probably damaging |
Het |
| Pard3 |
G |
A |
8: 128,115,900 (GRCm39) |
R663Q |
possibly damaging |
Het |
| Pcdh15 |
T |
A |
10: 74,479,335 (GRCm39) |
I482N |
probably benign |
Het |
| Pcsk2 |
G |
A |
2: 143,655,501 (GRCm39) |
D562N |
probably damaging |
Het |
| Pdzk1ip1 |
T |
C |
4: 114,950,177 (GRCm39) |
M146T |
probably benign |
Het |
| Plch1 |
T |
A |
3: 63,660,747 (GRCm39) |
T279S |
|
Het |
| Plec |
C |
T |
15: 76,058,177 (GRCm39) |
R3920Q |
probably damaging |
Het |
| Polr2g |
A |
T |
19: 8,774,631 (GRCm39) |
V84E |
probably damaging |
Het |
| Ppm1m |
C |
T |
9: 106,075,104 (GRCm39) |
R147H |
probably damaging |
Het |
| Ppp2r2c |
G |
T |
5: 37,080,383 (GRCm39) |
V48L |
probably damaging |
Het |
| Pramel25 |
T |
A |
4: 143,521,855 (GRCm39) |
C490* |
probably null |
Het |
| Prcp |
A |
T |
7: 92,524,598 (GRCm39) |
T18S |
probably benign |
Het |
| Rapsn |
A |
G |
2: 90,872,268 (GRCm39) |
S201G |
probably damaging |
Het |
| Rragd |
A |
G |
4: 33,012,998 (GRCm39) |
T332A |
probably benign |
Het |
| Scrn2 |
A |
G |
11: 96,921,342 (GRCm39) |
D34G |
probably damaging |
Het |
| Serpinb6c |
T |
C |
13: 34,079,303 (GRCm39) |
T130A |
probably benign |
Het |
| Setd1b |
G |
A |
5: 123,298,401 (GRCm39) |
G1479D |
probably damaging |
Het |
| Shd |
T |
A |
17: 56,283,268 (GRCm39) |
L299Q |
probably damaging |
Het |
| Slc5a4b |
C |
T |
10: 75,945,896 (GRCm39) |
V55I |
probably benign |
Het |
| Smg1 |
C |
A |
7: 117,755,933 (GRCm39) |
R2405L |
unknown |
Het |
| Stxbp2 |
A |
T |
8: 3,686,392 (GRCm39) |
M332L |
|
Het |
| Tedc2 |
A |
G |
17: 24,435,328 (GRCm39) |
C354R |
probably benign |
Het |
| Tek |
A |
T |
4: 94,692,523 (GRCm39) |
R210S |
possibly damaging |
Het |
| Ttc21a |
G |
A |
9: 119,771,686 (GRCm39) |
V162I |
probably benign |
Het |
| Usf3 |
T |
A |
16: 44,042,170 (GRCm39) |
C2217S |
possibly damaging |
Het |
| Wdr72 |
C |
T |
9: 74,118,041 (GRCm39) |
P930S |
probably damaging |
Het |
| Zan |
A |
G |
5: 137,456,812 (GRCm39) |
V1308A |
unknown |
Het |
| Zfp521 |
C |
T |
18: 13,978,922 (GRCm39) |
R497Q |
probably damaging |
Het |
| Zfp799 |
T |
A |
17: 33,039,435 (GRCm39) |
K277M |
probably damaging |
Het |
| Zfp949 |
C |
T |
9: 88,436,500 (GRCm39) |
|
probably benign |
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 |
|
|
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 |
|
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'- TGGACCGCCTACGTAAACAC -3'
(R):5'- CTTCAAGAAAGGCACCCAGG -3'
Sequencing Primer
(F):5'- AAACACCAAGGTCATTTCCTCTTGG -3'
(R):5'- CCCAGGCCCAGAAATGAGAAG -3'
|
| Posted On |
2022-10-06 |
Incidental Mutation