Incidental Mutation 'IGL02799:Tnk2'
| ID |
392310 |
| 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 |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.525)
|
| Stock # |
IGL02799 (G1)
|
| Quality Score |
150 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
32462699-32502311 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 32484699 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152338
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000115123]
[ENSMUST00000115124]
[ENSMUST00000115125]
[ENSMUST00000115126]
[ENSMUST00000124585]
[ENSMUST00000145627]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
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 benign
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 benign
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 benign
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 benign
Transcript: ENSMUST00000124585
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137044
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141256
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156614
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150383
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000145627
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000164358
|
| Coding Region Coverage |
- 1x: 0.0%
- 3x: 0.0%
- 10x: 0.0%
- 20x: 0.0%
|
| Validation Efficiency |
99% (67/68) |
| 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: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Add2 |
A |
G |
6: 86,083,234 (GRCm39) |
N444S |
possibly damaging |
Het |
| Atp2b2 |
A |
T |
6: 113,739,813 (GRCm39) |
Y823* |
probably null |
Het |
| Atp2c1 |
A |
C |
9: 105,290,242 (GRCm39) |
|
probably benign |
Het |
| Capns1 |
A |
T |
7: 29,891,644 (GRCm39) |
D133E |
probably benign |
Het |
| Cast |
A |
G |
13: 74,884,871 (GRCm39) |
V361A |
probably damaging |
Het |
| Cd69 |
G |
A |
6: 129,245,223 (GRCm39) |
|
probably benign |
Het |
| Celsr2 |
T |
A |
3: 108,321,378 (GRCm39) |
D478V |
probably damaging |
Het |
| Cenpf |
T |
C |
1: 189,391,849 (GRCm39) |
E661G |
probably damaging |
Het |
| Chrna1 |
A |
G |
2: 73,404,985 (GRCm39) |
|
probably benign |
Het |
| Clec5a |
C |
A |
6: 40,554,983 (GRCm39) |
V138F |
probably damaging |
Het |
| Ctsj |
T |
A |
13: 61,151,634 (GRCm39) |
I95F |
probably benign |
Het |
| Dcaf1 |
T |
A |
9: 106,735,139 (GRCm39) |
S696T |
probably benign |
Het |
| Dcp1a |
T |
C |
14: 30,241,636 (GRCm39) |
|
probably null |
Het |
| Dnajc14 |
C |
T |
10: 128,642,725 (GRCm39) |
P216S |
possibly damaging |
Het |
| Dst |
T |
C |
1: 34,218,930 (GRCm39) |
I1790T |
possibly damaging |
Het |
| Ehmt1 |
A |
T |
2: 24,705,818 (GRCm39) |
H789Q |
probably damaging |
Het |
| Exoc7 |
A |
T |
11: 116,192,007 (GRCm39) |
L188Q |
probably damaging |
Het |
| Faap100 |
A |
G |
11: 120,261,561 (GRCm39) |
L823P |
probably damaging |
Het |
| Fdxacb1 |
T |
A |
9: 50,683,896 (GRCm39) |
S620T |
probably benign |
Het |
| Fhl2 |
C |
T |
1: 43,167,562 (GRCm39) |
R177Q |
probably benign |
Het |
| Gars1 |
C |
A |
6: 55,040,084 (GRCm39) |
T337K |
probably damaging |
Het |
| Ggta1 |
A |
T |
2: 35,312,211 (GRCm39) |
F56I |
probably damaging |
Het |
| Gm10715 |
A |
C |
9: 3,038,062 (GRCm39) |
|
probably benign |
Het |
| Gpr108 |
T |
A |
17: 57,544,482 (GRCm39) |
I343F |
probably damaging |
Het |
| Gpr12 |
T |
A |
5: 146,520,629 (GRCm39) |
I98F |
possibly damaging |
Het |
| Hk2 |
A |
G |
6: 82,737,219 (GRCm39) |
L3P |
probably damaging |
Het |
| Imp4 |
C |
A |
1: 34,479,258 (GRCm39) |
|
probably benign |
Het |
| Insrr |
G |
A |
3: 87,720,888 (GRCm39) |
V1049M |
probably damaging |
Het |
| Klhl24 |
T |
C |
16: 19,933,331 (GRCm39) |
V314A |
probably damaging |
Het |
| Krt32 |
A |
T |
11: 99,978,733 (GRCm39) |
V107D |
possibly damaging |
Het |
| Krtap5-1 |
G |
A |
7: 141,850,242 (GRCm39) |
Q189* |
probably null |
Het |
| Lrrc9 |
A |
G |
12: 72,553,178 (GRCm39) |
E1360G |
probably damaging |
Het |
| Mdc1 |
G |
T |
17: 36,157,083 (GRCm39) |
L163F |
possibly damaging |
Het |
| Mroh1 |
T |
G |
15: 76,276,661 (GRCm39) |
|
probably null |
Het |
| Myh8 |
A |
G |
11: 67,192,418 (GRCm39) |
|
probably benign |
Het |
| Ndufab1 |
A |
T |
7: 121,692,949 (GRCm39) |
|
probably benign |
Het |
| Nek3 |
A |
G |
8: 22,648,735 (GRCm39) |
|
probably benign |
Het |
| Ngly1 |
A |
T |
14: 16,260,636 (GRCm38) |
I107L |
probably benign |
Het |
| Nkain4 |
A |
T |
2: 180,577,728 (GRCm39) |
|
probably null |
Het |
| Nsd2 |
T |
A |
5: 34,022,132 (GRCm39) |
|
probably benign |
Het |
| Or4n4 |
A |
G |
14: 50,518,801 (GRCm39) |
I303T |
probably benign |
Het |
| Or5e1 |
A |
T |
7: 108,354,830 (GRCm39) |
M256L |
probably benign |
Het |
| Or5t9 |
A |
T |
2: 86,659,300 (GRCm39) |
H68L |
probably damaging |
Het |
| Or7e166 |
T |
A |
9: 19,624,314 (GRCm39) |
Y64N |
probably damaging |
Het |
| Or8b12 |
T |
A |
9: 37,657,805 (GRCm39) |
I125N |
probably damaging |
Het |
| Pcnt |
G |
A |
10: 76,248,417 (GRCm39) |
Q901* |
probably null |
Het |
| Pctp |
C |
A |
11: 89,881,913 (GRCm39) |
W81C |
probably damaging |
Het |
| Pik3r5 |
A |
T |
11: 68,386,773 (GRCm39) |
I801F |
probably damaging |
Het |
| Ptprj |
A |
T |
2: 90,299,942 (GRCm39) |
N193K |
probably benign |
Het |
| Rab11fip1 |
A |
T |
8: 27,642,788 (GRCm39) |
D670E |
probably benign |
Het |
| Racgap1 |
T |
C |
15: 99,530,628 (GRCm39) |
K201E |
probably benign |
Het |
| Ranbp2 |
T |
C |
10: 58,316,086 (GRCm39) |
F2269L |
probably damaging |
Het |
| Rint1 |
C |
A |
5: 24,024,478 (GRCm39) |
A760D |
possibly damaging |
Het |
| Ryr2 |
G |
A |
13: 11,680,848 (GRCm39) |
P3166S |
probably damaging |
Het |
| Snap29 |
A |
G |
16: 17,240,367 (GRCm39) |
N158D |
probably benign |
Het |
| Speer4c1 |
A |
C |
5: 15,919,214 (GRCm39) |
|
probably benign |
Het |
| St6galnac1 |
G |
T |
11: 116,657,473 (GRCm39) |
|
probably benign |
Het |
| Strc |
G |
A |
2: 121,209,717 (GRCm39) |
T202I |
probably damaging |
Het |
| Stxbp4 |
A |
G |
11: 90,385,426 (GRCm39) |
|
probably null |
Het |
| Syne1 |
A |
T |
10: 5,309,059 (GRCm39) |
M650K |
probably damaging |
Het |
| Tbc1d2b |
C |
T |
9: 90,105,487 (GRCm39) |
|
probably benign |
Het |
| Tcfl5 |
A |
T |
2: 180,280,419 (GRCm39) |
I328N |
possibly damaging |
Het |
| Tenm2 |
A |
G |
11: 36,164,235 (GRCm39) |
Y337H |
probably damaging |
Het |
| Tgfbr2 |
T |
C |
9: 115,939,204 (GRCm39) |
K233E |
possibly damaging |
Het |
| Trbv13-2 |
A |
G |
6: 41,098,471 (GRCm39) |
|
probably benign |
Het |
| Tut4 |
T |
C |
4: 108,370,725 (GRCm39) |
Y875H |
probably benign |
Het |
| Usp6nl |
T |
A |
2: 6,432,360 (GRCm39) |
|
probably benign |
Het |
| Vmn2r62 |
A |
G |
7: 42,437,396 (GRCm39) |
S363P |
possibly damaging |
Het |
| Vnn3 |
T |
C |
10: 23,727,869 (GRCm39) |
I93T |
possibly damaging |
Het |
| Ylpm1 |
A |
G |
12: 85,091,258 (GRCm39) |
D1108G |
probably damaging |
Het |
| Zbtb17 |
G |
A |
4: 141,190,691 (GRCm39) |
G170S |
probably benign |
Het |
| Zfyve26 |
T |
C |
12: 79,320,084 (GRCm39) |
E1087G |
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 |
|
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 |
|
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'- TCTGGAGAGTTGGCGAGGTAAC -3'
(R):5'- TTATACCTCTGGGCAGCAGG -3'
Sequencing Primer
(F):5'- CTGCTTTGATGAGTAAACACCTCCAG -3'
(R):5'- CCTCTGGGCAGCAGGAGAAG -3'
|
| Posted On |
2016-06-09 |
Incidental Mutation