Incidental Mutation 'R9786:Tnk2'
| ID |
734363 |
| 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 # |
R9786 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
32462699-32502311 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 32498875 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Stop codon
at position 729
(C729*)
|
| 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 null
Transcript: ENSMUST00000115120
AA Change: C224*
|
| SMART Domains |
Protein: ENSMUSP00000110773
Gene: ENSMUSG00000022791
AA Change: C224*
| 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
AA Change: C239*
|
| SMART Domains |
Protein: ENSMUSP00000110774
Gene: ENSMUSG00000022791
AA Change: C239*
| 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 null
Transcript: ENSMUST00000115123
AA Change: C714*
|
| SMART Domains |
Protein: ENSMUSP00000110776
Gene: ENSMUSG00000022791
AA Change: C714*
| 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
AA Change: C729*
|
| SMART Domains |
Protein: ENSMUSP00000110777
Gene: ENSMUSG00000022791
AA Change: C729*
| 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
AA Change: C714*
|
| SMART Domains |
Protein: ENSMUSP00000110778
Gene: ENSMUSG00000022791
AA Change: C714*
| 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
AA Change: C729*
|
| SMART Domains |
Protein: ENSMUSP00000110779
Gene: ENSMUSG00000022791
AA Change: C729*
| 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: 99.9%
- 3x: 99.8%
- 10x: 99.2%
- 20x: 97.9%
|
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A4gnt |
T |
A |
9: 99,502,536 (GRCm39) |
M232K |
possibly damaging |
Het |
| Abcc1 |
T |
C |
16: 14,222,927 (GRCm39) |
S243P |
probably damaging |
Het |
| Acsl1 |
T |
C |
8: 46,974,486 (GRCm39) |
Y320H |
probably damaging |
Het |
| Adam11 |
A |
G |
11: 102,653,090 (GRCm39) |
S61G |
probably benign |
Het |
| Adamts1 |
G |
A |
16: 85,592,302 (GRCm39) |
T965I |
probably benign |
Het |
| Adcyap1r1 |
T |
A |
6: 55,456,182 (GRCm39) |
M190K |
probably damaging |
Het |
| Ankrd2 |
T |
A |
19: 42,033,358 (GRCm39) |
L300Q |
|
Het |
| Ankrd27 |
A |
T |
7: 35,291,294 (GRCm39) |
Q30L |
possibly damaging |
Het |
| Atp8b5 |
T |
A |
4: 43,305,798 (GRCm39) |
I114K |
probably damaging |
Het |
| Atrn |
A |
T |
2: 130,786,809 (GRCm39) |
I205F |
probably damaging |
Het |
| BC035947 |
A |
G |
1: 78,488,561 (GRCm39) |
|
probably benign |
Het |
| Boc |
C |
T |
16: 44,311,692 (GRCm39) |
R677H |
|
Het |
| Calhm6 |
A |
G |
10: 34,003,643 (GRCm39) |
F88S |
probably benign |
Het |
| Ccdc121rt3 |
T |
A |
5: 112,502,939 (GRCm39) |
E255V |
probably benign |
Het |
| Dpysl3 |
G |
T |
18: 43,462,922 (GRCm39) |
T485K |
probably damaging |
Het |
| Esyt3 |
T |
C |
9: 99,194,038 (GRCm39) |
D867G |
possibly damaging |
Het |
| Fam178b |
G |
A |
1: 36,603,517 (GRCm39) |
T478I |
probably damaging |
Het |
| Foxd2 |
G |
T |
4: 114,764,850 (GRCm39) |
T390K |
possibly damaging |
Het |
| Furin |
A |
G |
7: 80,040,645 (GRCm39) |
V731A |
probably benign |
Het |
| Grin2a |
T |
A |
16: 9,471,466 (GRCm39) |
I601F |
possibly damaging |
Het |
| Hat1 |
G |
A |
2: 71,250,959 (GRCm39) |
R169Q |
possibly damaging |
Het |
| Ighe |
G |
C |
12: 113,236,851 (GRCm39) |
Q6E |
|
Het |
| Ighv8-2 |
T |
C |
12: 114,426,179 (GRCm39) |
I31V |
probably benign |
Het |
| Klk1 |
A |
G |
7: 43,878,104 (GRCm39) |
D120G |
probably damaging |
Het |
| Kmt2e |
A |
G |
5: 23,702,982 (GRCm39) |
D1054G |
probably benign |
Het |
| Lamp5 |
A |
T |
2: 135,910,998 (GRCm39) |
I244F |
probably damaging |
Het |
| Maco1 |
A |
T |
4: 134,557,993 (GRCm39) |
Y173* |
probably null |
Het |
| Mcm5 |
C |
T |
8: 75,844,168 (GRCm39) |
S313F |
probably benign |
Het |
| Mfsd4b1 |
T |
C |
10: 39,878,865 (GRCm39) |
E344G |
probably damaging |
Het |
| Mns1 |
A |
G |
9: 72,346,556 (GRCm39) |
K13R |
probably benign |
Het |
| Mrpl43 |
C |
T |
19: 44,994,346 (GRCm39) |
S91N |
probably benign |
Het |
| Mtbp |
T |
C |
15: 55,481,032 (GRCm39) |
S706P |
probably benign |
Het |
| Nelfb |
A |
T |
2: 25,095,145 (GRCm39) |
V348D |
probably damaging |
Het |
| Or1l8 |
T |
A |
2: 36,817,416 (GRCm39) |
K237* |
probably null |
Het |
| Or5p72 |
A |
T |
7: 108,021,924 (GRCm39) |
I49F |
probably benign |
Het |
| Or7g20 |
C |
T |
9: 18,947,241 (GRCm39) |
A274V |
possibly damaging |
Het |
| Or8k18 |
G |
A |
2: 86,085,428 (GRCm39) |
S203L |
probably benign |
Het |
| Or8s8 |
T |
C |
15: 98,354,713 (GRCm39) |
I174T |
possibly damaging |
Het |
| Pde6c |
T |
C |
19: 38,140,009 (GRCm39) |
I324T |
possibly damaging |
Het |
| Phlpp2 |
T |
A |
8: 110,660,655 (GRCm39) |
L770* |
probably null |
Het |
| Pik3c2b |
T |
A |
1: 133,019,338 (GRCm39) |
F1029I |
possibly damaging |
Het |
| Rfx2 |
A |
T |
17: 57,087,890 (GRCm39) |
S500R |
probably benign |
Het |
| Sarm1 |
T |
C |
11: 78,365,743 (GRCm39) |
M761V |
probably benign |
Het |
| Serpina1a |
A |
G |
12: 103,822,140 (GRCm39) |
L264P |
possibly damaging |
Het |
| Slc37a1 |
G |
T |
17: 31,556,965 (GRCm39) |
G377V |
probably damaging |
Het |
| Slc38a4 |
T |
A |
15: 96,906,378 (GRCm39) |
M364L |
probably damaging |
Het |
| Slc7a15 |
A |
G |
12: 8,580,280 (GRCm39) |
F384S |
probably benign |
Het |
| Smyd4 |
T |
C |
11: 75,281,625 (GRCm39) |
V366A |
probably benign |
Het |
| Spata31d1b |
T |
A |
13: 59,866,155 (GRCm39) |
V1101D |
possibly damaging |
Het |
| Spata31d1e |
C |
T |
13: 59,890,498 (GRCm39) |
D441N |
possibly damaging |
Het |
| Stab2 |
C |
A |
10: 86,757,997 (GRCm39) |
M1090I |
probably benign |
Het |
| Tex15 |
C |
T |
8: 34,062,457 (GRCm39) |
T903I |
probably damaging |
Het |
| Tgds |
A |
T |
14: 118,368,049 (GRCm39) |
Y41* |
probably null |
Het |
| Tle4 |
G |
T |
19: 14,495,304 (GRCm39) |
H142N |
probably benign |
Het |
| Tlx2 |
T |
C |
6: 83,046,274 (GRCm39) |
|
probably null |
Het |
| Tmem151a |
C |
G |
19: 5,131,869 (GRCm39) |
A446P |
probably damaging |
Het |
| Tmem205 |
A |
T |
9: 21,832,496 (GRCm39) |
D138E |
probably damaging |
Het |
| Tmprss9 |
A |
G |
10: 80,734,042 (GRCm39) |
K1009E |
unknown |
Het |
| Trim46 |
T |
A |
3: 89,142,399 (GRCm39) |
D696V |
probably damaging |
Het |
| Tuba3b |
G |
A |
6: 145,564,482 (GRCm39) |
R84Q |
probably benign |
Het |
| Unc119b |
C |
T |
5: 115,263,521 (GRCm39) |
D228N |
probably damaging |
Het |
| Usp17la |
A |
G |
7: 104,510,864 (GRCm39) |
T490A |
probably benign |
Het |
| Zfp267 |
T |
A |
3: 36,219,853 (GRCm39) |
C625* |
probably null |
Het |
| Zfp687 |
C |
T |
3: 94,919,768 (GRCm39) |
M1I |
probably null |
Het |
| Zfp729a |
T |
C |
13: 67,768,628 (GRCm39) |
T534A |
possibly damaging |
Het |
| Zfp985 |
A |
T |
4: 147,668,047 (GRCm39) |
H305L |
probably benign |
Het |
| Zscan10 |
C |
T |
17: 23,828,330 (GRCm39) |
Q291* |
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 |
|
|
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 |
|
X0063:Tnk2
|
UTSW |
16 |
32,489,668 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AACAGCACGCTAGTAGGTGC -3'
(R):5'- ACCTTGAGGAGACAGAGGTTCC -3'
Sequencing Primer
(F):5'- TAGTAGGTGCAGGCCTCC -3'
(R):5'- AGACAGAGGTTCCCGGGG -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation