Incidental Mutation 'R7477:Tnk2'
ID |
628203 |
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 |
045551-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.525)
|
Stock # |
R7477 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
32462699-32502311 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
C to A
at 32496709 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000125905
(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 null
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 null
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 null
Transcript: ENSMUST00000115122
|
Predicted Effect |
probably null
Transcript: ENSMUST00000115123
|
SMART Domains |
Protein: ENSMUSP00000110776 Gene: ENSMUSG00000022791
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 null
Transcript: ENSMUST00000115124
|
SMART Domains |
Protein: ENSMUSP00000110777 Gene: ENSMUSG00000022791
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 null
Transcript: ENSMUST00000115125
|
SMART Domains |
Protein: ENSMUSP00000110778 Gene: ENSMUSG00000022791
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 null
Transcript: ENSMUST00000115126
|
SMART Domains |
Protein: ENSMUSP00000110779 Gene: ENSMUSG00000022791
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 null
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 null
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 |
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
Validation Efficiency |
97% (66/68) |
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: 67 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acox3 |
G |
T |
5: 35,749,447 (GRCm39) |
E191* |
probably null |
Het |
Adam26a |
T |
A |
8: 44,022,107 (GRCm39) |
E461V |
probably damaging |
Het |
Adamtsl1 |
G |
A |
4: 86,333,888 (GRCm39) |
R1539Q |
probably damaging |
Het |
Adipor2 |
A |
T |
6: 119,338,883 (GRCm39) |
H123Q |
probably benign |
Het |
Akap13 |
C |
T |
7: 75,398,995 (GRCm39) |
S2691L |
probably benign |
Het |
Aldh1l1 |
T |
C |
6: 90,575,369 (GRCm39) |
|
probably null |
Het |
Ankrd11 |
A |
T |
8: 123,621,124 (GRCm39) |
S909R |
possibly damaging |
Het |
Bop1 |
T |
C |
15: 76,339,526 (GRCm39) |
E273G |
probably damaging |
Het |
Car1 |
G |
A |
3: 14,841,343 (GRCm39) |
H97Y |
probably damaging |
Het |
Casp14 |
T |
C |
10: 78,550,138 (GRCm39) |
N170S |
probably benign |
Het |
Ccdc158 |
A |
T |
5: 92,798,555 (GRCm39) |
L382M |
probably damaging |
Het |
Ccdc18 |
A |
C |
5: 108,368,716 (GRCm39) |
Q1279H |
probably damaging |
Het |
Cdh18 |
A |
G |
15: 23,410,811 (GRCm39) |
N432S |
probably benign |
Het |
Ctdp1 |
T |
C |
18: 80,483,929 (GRCm39) |
|
probably null |
Het |
Dhx30 |
A |
G |
9: 109,916,208 (GRCm39) |
I691T |
probably damaging |
Het |
Dnah9 |
A |
G |
11: 65,883,557 (GRCm39) |
I2562T |
probably damaging |
Het |
Dsp |
A |
T |
13: 38,356,839 (GRCm39) |
I240F |
probably damaging |
Het |
Ell |
T |
C |
8: 71,037,868 (GRCm39) |
S308P |
probably benign |
Het |
Elmo1 |
A |
G |
13: 20,469,489 (GRCm39) |
D26G |
|
Het |
Fam171a1 |
T |
C |
2: 3,226,676 (GRCm39) |
V603A |
probably benign |
Het |
Fam83e |
G |
A |
7: 45,378,404 (GRCm39) |
G476D |
probably damaging |
Het |
Farp2 |
A |
G |
1: 93,508,750 (GRCm39) |
|
probably null |
Het |
Fcer1a |
C |
T |
1: 173,048,851 (GRCm39) |
|
probably null |
Het |
Gpr179 |
G |
T |
11: 97,226,665 (GRCm39) |
T1830K |
possibly damaging |
Het |
Grin3a |
G |
A |
4: 49,719,278 (GRCm39) |
P823S |
probably damaging |
Het |
Heatr4 |
T |
A |
12: 84,026,604 (GRCm39) |
I218F |
probably damaging |
Het |
Il36rn |
T |
A |
2: 24,169,704 (GRCm39) |
Y21* |
probably null |
Het |
Jakmip1 |
A |
G |
5: 37,330,915 (GRCm39) |
T532A |
probably benign |
Het |
Klf11 |
A |
G |
12: 24,703,562 (GRCm39) |
D16G |
probably benign |
Het |
Lrp1 |
T |
A |
10: 127,404,789 (GRCm39) |
I1971F |
probably damaging |
Het |
Lrrc9 |
T |
A |
12: 72,550,301 (GRCm39) |
|
probably null |
Het |
Lrrk2 |
C |
T |
15: 91,696,528 (GRCm39) |
L2439F |
probably damaging |
Het |
Lypd10 |
A |
G |
7: 24,413,673 (GRCm39) |
T230A |
probably benign |
Het |
Mapk14 |
G |
A |
17: 28,964,052 (GRCm39) |
D313N |
probably damaging |
Het |
Max |
A |
T |
12: 76,999,960 (GRCm39) |
S52T |
probably benign |
Het |
Mrpl23 |
A |
G |
7: 142,091,018 (GRCm39) |
R80G |
possibly damaging |
Het |
Muc5ac |
C |
A |
7: 141,370,019 (GRCm39) |
N3186K |
possibly damaging |
Het |
Mylk2 |
G |
A |
2: 152,762,261 (GRCm39) |
V511I |
probably damaging |
Het |
Mypn |
T |
C |
10: 62,961,500 (GRCm39) |
M1031V |
possibly damaging |
Het |
Nbeal1 |
A |
G |
1: 60,300,743 (GRCm39) |
T1488A |
probably benign |
Het |
Ncbp1 |
A |
T |
4: 46,157,897 (GRCm39) |
E378D |
probably damaging |
Het |
Nedd9 |
A |
T |
13: 41,471,956 (GRCm39) |
D174E |
probably benign |
Het |
Nid2 |
T |
A |
14: 19,856,041 (GRCm39) |
D1255E |
probably benign |
Het |
Nlrc3 |
A |
G |
16: 3,782,675 (GRCm39) |
C261R |
probably damaging |
Het |
Or5w22 |
A |
G |
2: 87,362,431 (GRCm39) |
N18S |
probably benign |
Het |
Pgam1 |
T |
A |
19: 41,905,255 (GRCm39) |
H196Q |
probably damaging |
Het |
Pja2 |
A |
C |
17: 64,616,640 (GRCm39) |
V85G |
possibly damaging |
Het |
Pkd2 |
G |
A |
5: 104,631,108 (GRCm39) |
V511M |
probably benign |
Het |
Ppp2cb |
T |
A |
8: 34,105,502 (GRCm39) |
S171T |
probably benign |
Het |
Prkab2 |
T |
C |
3: 97,566,063 (GRCm39) |
F45S |
probably damaging |
Het |
Rabep2 |
A |
T |
7: 126,043,990 (GRCm39) |
|
probably null |
Het |
Rnf41 |
T |
A |
10: 128,271,303 (GRCm39) |
I71N |
probably damaging |
Het |
Slc5a7 |
G |
A |
17: 54,588,787 (GRCm39) |
P287S |
probably damaging |
Het |
Smc6 |
A |
G |
12: 11,321,808 (GRCm39) |
D25G |
probably benign |
Het |
Sptb |
A |
T |
12: 76,675,339 (GRCm39) |
L225Q |
probably damaging |
Het |
Tenm4 |
A |
C |
7: 96,495,015 (GRCm39) |
I1148L |
probably damaging |
Het |
Trank1 |
G |
A |
9: 111,194,025 (GRCm39) |
S683N |
probably benign |
Het |
Trp53bp1 |
A |
C |
2: 121,066,827 (GRCm39) |
V633G |
probably benign |
Het |
Ugt2a3 |
T |
C |
5: 87,484,479 (GRCm39) |
K182E |
possibly damaging |
Het |
Uncx |
A |
T |
5: 139,533,017 (GRCm39) |
T361S |
probably benign |
Het |
Vmn2r11 |
A |
T |
5: 109,207,214 (GRCm39) |
N35K |
possibly damaging |
Het |
Vmn2r4 |
C |
A |
3: 64,305,850 (GRCm39) |
R524L |
probably benign |
Het |
Vmn2r5 |
C |
T |
3: 64,399,060 (GRCm39) |
V640M |
probably damaging |
Het |
Washc4 |
T |
C |
10: 83,410,307 (GRCm39) |
Y632H |
probably damaging |
Het |
Xkr6 |
T |
C |
14: 63,844,129 (GRCm39) |
S51P |
possibly damaging |
Het |
Zer1 |
C |
A |
2: 29,997,988 (GRCm39) |
K408N |
probably null |
Het |
Znhit2 |
A |
G |
19: 6,112,501 (GRCm39) |
|
probably null |
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 |
|
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'- CTTTGTATTATCCCCTGGACAATCAG -3'
(R):5'- CTGTCCCCAGAGTACAACAG -3'
Sequencing Primer
(F):5'- ACAATCAGGAGGGGTGTGTGTG -3'
(R):5'- TACAACAGCAGGCTCAGGGTG -3'
|
Posted On |
2020-02-05 |