Incidental Mutation 'R6717:Tnk2'
ID |
529453 |
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 |
044835-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.525)
|
Stock # |
R6717 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
32462699-32502311 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 32489687 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 322
(E322G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000110779
(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: E322G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000110776 Gene: ENSMUSG00000022791 AA Change: E322G
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: E322G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000110777 Gene: ENSMUSG00000022791 AA Change: E322G
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: E322G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000110778 Gene: ENSMUSG00000022791 AA Change: E322G
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: E322G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000110779 Gene: ENSMUSG00000022791 AA Change: E322G
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 |
noncoding transcript
Transcript: ENSMUST00000150383
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156614
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000164358
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137044
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000168506
|
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: ENSMUST00000141256
|
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 |
|
Meta Mutation Damage Score |
0.9608 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.7%
- 20x: 96.5%
|
Validation Efficiency |
98% (47/48) |
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: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akap9 |
C |
T |
5: 4,114,086 (GRCm39) |
L3122F |
probably damaging |
Het |
Atp6v1b1 |
A |
T |
6: 83,730,632 (GRCm39) |
|
probably null |
Het |
Ccdc178 |
A |
T |
18: 22,153,946 (GRCm39) |
V621E |
probably damaging |
Het |
Cfap126 |
T |
C |
1: 170,941,671 (GRCm39) |
|
probably null |
Het |
Cog2 |
T |
C |
8: 125,252,488 (GRCm39) |
I64T |
probably damaging |
Het |
Dhx9 |
A |
C |
1: 153,349,210 (GRCm39) |
|
probably null |
Het |
Efcab7 |
A |
G |
4: 99,761,931 (GRCm39) |
D407G |
possibly damaging |
Het |
Eif2b5 |
G |
T |
16: 20,324,033 (GRCm39) |
G459C |
probably damaging |
Het |
Eml5 |
T |
C |
12: 98,793,765 (GRCm39) |
E1168G |
probably damaging |
Het |
Flnc |
AGCTGTCAAGTATGCTG |
AGCTG |
6: 29,450,901 (GRCm39) |
|
probably benign |
Het |
Fry |
A |
G |
5: 150,419,777 (GRCm39) |
T980A |
probably benign |
Het |
Gabbr2 |
A |
G |
4: 46,787,574 (GRCm39) |
V363A |
possibly damaging |
Het |
Ggt6 |
T |
A |
11: 72,328,346 (GRCm39) |
L244* |
probably null |
Het |
Gprc6a |
T |
A |
10: 51,491,233 (GRCm39) |
I768F |
probably damaging |
Het |
Grk1 |
G |
A |
8: 13,466,237 (GRCm39) |
M560I |
probably benign |
Het |
Hapln4 |
G |
A |
8: 70,537,740 (GRCm39) |
E145K |
probably damaging |
Het |
Hoxd9 |
C |
T |
2: 74,528,733 (GRCm39) |
P112S |
probably benign |
Het |
Ly6g6f |
T |
A |
17: 35,304,550 (GRCm39) |
M1L |
probably benign |
Het |
Mast1 |
T |
C |
8: 85,644,383 (GRCm39) |
T849A |
probably benign |
Het |
Mob4 |
A |
T |
1: 55,175,872 (GRCm39) |
M39L |
possibly damaging |
Het |
Mrgpre |
A |
T |
7: 143,335,260 (GRCm39) |
L81Q |
probably damaging |
Het |
Mst1 |
T |
C |
9: 107,957,774 (GRCm39) |
|
probably null |
Het |
Muc5b |
A |
T |
7: 141,411,559 (GRCm39) |
R1502* |
probably null |
Het |
Or4b13 |
T |
A |
2: 90,082,868 (GRCm39) |
I155L |
probably benign |
Het |
Or5ap2 |
T |
A |
2: 85,680,567 (GRCm39) |
I257N |
probably damaging |
Het |
Or9e1 |
T |
C |
11: 58,732,113 (GRCm39) |
Y58H |
probably damaging |
Het |
Pdc |
A |
G |
1: 150,208,769 (GRCm39) |
D84G |
probably damaging |
Het |
Peak1 |
T |
C |
9: 56,114,523 (GRCm39) |
N443D |
probably benign |
Het |
Pkd1l3 |
T |
A |
8: 110,341,401 (GRCm39) |
W85R |
unknown |
Het |
Pramel31 |
G |
T |
4: 144,089,227 (GRCm39) |
V182L |
probably benign |
Het |
Rfc1 |
G |
A |
5: 65,459,347 (GRCm39) |
Q190* |
probably null |
Het |
Rfc1 |
A |
G |
5: 65,470,304 (GRCm39) |
S68P |
probably damaging |
Het |
Rnf145 |
T |
C |
11: 44,452,317 (GRCm39) |
V432A |
probably benign |
Het |
Ror2 |
A |
G |
13: 53,273,018 (GRCm39) |
S204P |
probably damaging |
Het |
Scn1a |
T |
C |
2: 66,162,631 (GRCm39) |
E205G |
probably damaging |
Het |
Slc2a8 |
A |
C |
2: 32,866,189 (GRCm39) |
M277R |
probably damaging |
Het |
Slc4a1 |
T |
C |
11: 102,245,249 (GRCm39) |
Y566C |
probably damaging |
Het |
Slc6a12 |
A |
G |
6: 121,331,262 (GRCm39) |
N185S |
probably benign |
Het |
Srcap |
GCTCCTCCTCCTCCTCCT |
GCTCCTCCTCCTCCT |
7: 127,157,482 (GRCm39) |
|
probably benign |
Het |
Stk33 |
T |
A |
7: 108,926,823 (GRCm39) |
T279S |
possibly damaging |
Het |
Taok3 |
A |
G |
5: 117,379,015 (GRCm39) |
|
probably benign |
Het |
Tlr11 |
A |
G |
14: 50,599,561 (GRCm39) |
T516A |
probably benign |
Het |
Tmem132c |
T |
A |
5: 127,641,093 (GRCm39) |
L1088Q |
possibly damaging |
Het |
Tmem132d |
T |
A |
5: 127,861,485 (GRCm39) |
M879L |
probably benign |
Het |
Ttc28 |
T |
C |
5: 111,433,302 (GRCm39) |
V2081A |
probably benign |
Het |
Ttn |
C |
T |
2: 76,624,753 (GRCm39) |
|
probably null |
Het |
Zfp105 |
T |
C |
9: 122,759,373 (GRCm39) |
V348A |
possibly damaging |
Het |
Zswim2 |
T |
C |
2: 83,745,753 (GRCm39) |
R562G |
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 |
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'- CCTTTGCTGAGATCGTGGAGTC -3'
(R):5'- TGTTAAGCTCTCAGAGATCCCAC -3'
Sequencing Primer
(F):5'- TGGAGTCTCCTAGTGCCAGAG -3'
(R):5'- GAGATCCCACACCAATATCGGG -3'
|
Posted On |
2018-08-01 |