Incidental Mutation 'R7292:Tnk2'
ID |
566513 |
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 |
045397-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.525)
|
Stock # |
R7292 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
32462699-32502311 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 32499618 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 977
(V977A)
|
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 benign
Transcript: ENSMUST00000115120
AA Change: V472A
PolyPhen 2
Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000110773 Gene: ENSMUSG00000022791 AA Change: V472A
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: V962A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000110776 Gene: ENSMUSG00000022791 AA Change: V962A
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: V977A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000110777 Gene: ENSMUSG00000022791 AA Change: V977A
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: V962A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000110778 Gene: ENSMUSG00000022791 AA Change: V962A
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 benign
Transcript: ENSMUST00000115126
AA Change: V977A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000110779 Gene: ENSMUSG00000022791 AA Change: V977A
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: 99.0%
|
Validation Efficiency |
100% (66/66) |
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: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700010I14Rik |
T |
A |
17: 9,215,861 (GRCm39) |
C322* |
probably null |
Het |
4930553M12Rik |
G |
A |
4: 88,786,568 (GRCm39) |
R17C |
unknown |
Het |
Abcc8 |
G |
A |
7: 45,784,950 (GRCm39) |
T726I |
probably benign |
Het |
Adamts18 |
T |
C |
8: 114,436,277 (GRCm39) |
T981A |
probably benign |
Het |
Adgrb3 |
A |
G |
1: 25,570,957 (GRCm39) |
C507R |
probably damaging |
Het |
Bloc1s6 |
T |
A |
2: 122,584,615 (GRCm39) |
D63E |
probably damaging |
Het |
Cdc25b |
C |
T |
2: 131,033,093 (GRCm39) |
R135W |
probably damaging |
Het |
Cdca2 |
G |
T |
14: 67,915,326 (GRCm39) |
Y644* |
probably null |
Het |
Ceacam10 |
G |
T |
7: 24,477,775 (GRCm39) |
G97C |
probably damaging |
Het |
Cenpf |
G |
A |
1: 189,382,891 (GRCm39) |
L2668F |
probably damaging |
Het |
Cog4 |
A |
G |
8: 111,608,460 (GRCm39) |
D774G |
probably damaging |
Het |
Col11a2 |
G |
A |
17: 34,270,482 (GRCm39) |
G511E |
unknown |
Het |
Col19a1 |
T |
A |
1: 24,569,089 (GRCm39) |
I220F |
unknown |
Het |
Cubn |
G |
T |
2: 13,429,550 (GRCm39) |
T1317K |
probably damaging |
Het |
Dnaaf5 |
T |
C |
5: 139,136,072 (GRCm39) |
L24P |
unknown |
Het |
Eif4a3l2 |
G |
A |
6: 116,528,438 (GRCm39) |
R105Q |
probably damaging |
Het |
Fan1 |
T |
A |
7: 64,022,234 (GRCm39) |
N340Y |
probably damaging |
Het |
Foxn4 |
C |
A |
5: 114,396,716 (GRCm39) |
E256* |
probably null |
Het |
Gm5930 |
A |
G |
14: 44,574,014 (GRCm39) |
S108P |
probably damaging |
Het |
Gnl3 |
A |
G |
14: 30,735,189 (GRCm39) |
S468P |
probably benign |
Het |
Gzmb |
A |
T |
14: 56,499,576 (GRCm39) |
S11T |
probably benign |
Het |
Hmcn1 |
T |
C |
1: 150,608,880 (GRCm39) |
|
probably null |
Het |
Ifi206 |
A |
G |
1: 173,301,428 (GRCm39) |
L750P |
unknown |
Het |
Ifi213 |
T |
A |
1: 173,422,691 (GRCm39) |
E58V |
probably damaging |
Het |
Igkv4-78 |
A |
T |
6: 69,036,752 (GRCm39) |
Y94N |
probably damaging |
Het |
Igsf9 |
G |
T |
1: 172,319,324 (GRCm39) |
|
probably null |
Het |
Itpr2 |
G |
T |
6: 146,060,447 (GRCm39) |
L2490M |
possibly damaging |
Het |
Kdm2b |
A |
G |
5: 123,018,854 (GRCm39) |
F862S |
probably damaging |
Het |
Kif19b |
A |
G |
5: 140,457,425 (GRCm39) |
D398G |
probably benign |
Het |
Meis1 |
A |
G |
11: 18,961,351 (GRCm39) |
I174T |
probably damaging |
Het |
Micu3 |
A |
G |
8: 40,835,166 (GRCm39) |
Q507R |
probably benign |
Het |
Mpp4 |
C |
T |
1: 59,182,969 (GRCm39) |
E313K |
possibly damaging |
Het |
Nfatc4 |
G |
A |
14: 56,062,512 (GRCm39) |
E7K |
probably damaging |
Het |
Or7g16 |
A |
T |
9: 18,727,486 (GRCm39) |
Y35N |
probably damaging |
Het |
Or9s18 |
T |
A |
13: 65,300,656 (GRCm39) |
V206D |
possibly damaging |
Het |
Osbpl5 |
G |
A |
7: 143,255,015 (GRCm39) |
P470S |
probably damaging |
Het |
Pak6 |
A |
G |
2: 118,524,072 (GRCm39) |
D409G |
possibly damaging |
Het |
Pierce1 |
TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC |
TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC |
2: 28,356,122 (GRCm39) |
|
probably benign |
Het |
Pkhd1l1 |
T |
A |
15: 44,361,986 (GRCm39) |
M553K |
probably benign |
Het |
Ppp2r3d |
T |
C |
9: 101,089,871 (GRCm39) |
N151D |
probably damaging |
Het |
Prdm12 |
T |
C |
2: 31,533,862 (GRCm39) |
W160R |
probably damaging |
Het |
Prdm2 |
G |
A |
4: 142,859,471 (GRCm39) |
T1273M |
possibly damaging |
Het |
Prl2a1 |
A |
G |
13: 27,991,353 (GRCm39) |
|
probably null |
Het |
Prob1 |
G |
A |
18: 35,787,603 (GRCm39) |
P217L |
possibly damaging |
Het |
Ramp1 |
A |
C |
1: 91,124,499 (GRCm39) |
H20P |
probably benign |
Het |
Rbm47 |
T |
A |
5: 66,184,093 (GRCm39) |
E170V |
possibly damaging |
Het |
Relch |
G |
T |
1: 105,649,141 (GRCm39) |
|
probably null |
Het |
Rpn1 |
C |
T |
6: 88,067,066 (GRCm39) |
P142L |
probably damaging |
Het |
Rsu1 |
C |
T |
2: 13,174,827 (GRCm39) |
R238H |
probably damaging |
Het |
Sh3rf3 |
C |
T |
10: 58,907,795 (GRCm39) |
P441L |
probably damaging |
Het |
Slc1a6 |
A |
G |
10: 78,650,438 (GRCm39) |
S559G |
possibly damaging |
Het |
Slc35f5 |
C |
A |
1: 125,500,222 (GRCm39) |
S245R |
probably damaging |
Het |
Spcs3 |
T |
C |
8: 54,979,554 (GRCm39) |
N76D |
probably benign |
Het |
Spmip5 |
A |
T |
19: 58,777,539 (GRCm39) |
Y90* |
probably null |
Het |
Svep1 |
T |
C |
4: 58,111,395 (GRCm39) |
T1075A |
possibly damaging |
Het |
Sympk |
A |
T |
7: 18,769,955 (GRCm39) |
I211F |
probably benign |
Het |
Tk1 |
C |
T |
11: 117,716,603 (GRCm39) |
M1I |
probably null |
Het |
Tln2 |
A |
G |
9: 67,253,743 (GRCm39) |
V776A |
probably benign |
Het |
Tmem94 |
G |
T |
11: 115,677,082 (GRCm39) |
R118L |
possibly damaging |
Het |
Toporsl |
A |
T |
4: 52,611,630 (GRCm39) |
S508C |
probably benign |
Het |
Trank1 |
A |
C |
9: 111,206,938 (GRCm39) |
R1690S |
probably benign |
Het |
Trio |
T |
A |
15: 27,828,437 (GRCm39) |
Q1409L |
possibly damaging |
Het |
Vit |
T |
C |
17: 78,912,927 (GRCm39) |
F287L |
probably benign |
Het |
Vmn2r109 |
G |
C |
17: 20,761,700 (GRCm39) |
D552E |
probably benign |
Het |
Zw10 |
T |
C |
9: 48,972,491 (GRCm39) |
V186A |
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 |
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'- CTTACCTGGAACGCTATCAGC -3'
(R):5'- TCTGAACACTCCAGCTGTG -3'
Sequencing Primer
(F):5'- AGTACTCCAGCCCCTGC -3'
(R):5'- GCTGTGGCTCTGCAGGG -3'
|
Posted On |
2019-06-26 |