Incidental Mutation 'IGL03353:Txk'
| ID |
419810 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Txk
|
| Ensembl Gene |
ENSMUSG00000054892 |
| Gene Name |
TXK tyrosine kinase |
| Synonyms |
PTK4, A130089B16Rik, Rlk, Btkl |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL03353
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
72853321-72910120 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 72893745 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 12
(V12I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129397
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000113604]
[ENSMUST00000169534]
[ENSMUST00000197313]
[ENSMUST00000198464]
|
| AlphaFold |
P42682 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000113604
AA Change: V12I
|
| SMART Domains |
Protein: ENSMUSP00000109234
Gene: ENSMUSG00000054892
AA Change: V12I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
28 |
N/A |
INTRINSIC |
|
low complexity region
|
72 |
81 |
N/A |
INTRINSIC |
|
SH3
|
85 |
141 |
9.99e-17 |
SMART |
|
SH2
|
148 |
237 |
8.27e-34 |
SMART |
|
TyrKc
|
271 |
520 |
2.52e-134 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169534
AA Change: V12I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000129397
Gene: ENSMUSG00000054892
AA Change: V12I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
28 |
N/A |
INTRINSIC |
|
low complexity region
|
72 |
81 |
N/A |
INTRINSIC |
|
SH3
|
85 |
141 |
9.99e-17 |
SMART |
|
SH2
|
148 |
237 |
8.27e-34 |
SMART |
|
TyrKc
|
271 |
520 |
2.52e-134 |
SMART |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000197313
AA Change: V12I
|
| SMART Domains |
Protein: ENSMUSP00000143476
Gene: ENSMUSG00000054892
AA Change: V12I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
28 |
N/A |
INTRINSIC |
|
low complexity region
|
72 |
81 |
N/A |
INTRINSIC |
|
SH3
|
85 |
138 |
1.2e-9 |
SMART |
|
SH2
|
126 |
215 |
3.1e-35 |
SMART |
|
TyrKc
|
249 |
498 |
1.2e-136 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197843
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000198464
|
| SMART Domains |
Protein: ENSMUSP00000143002
Gene: ENSMUSG00000054892
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
18 |
27 |
N/A |
INTRINSIC |
|
SH3
|
31 |
87 |
6.3e-19 |
SMART |
|
SH2
|
94 |
183 |
5.4e-36 |
SMART |
|
TyrKc
|
217 |
466 |
1.2e-136 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198798
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198970
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Homozygous mutation of this gene results in increased susceptibility to parasitic (Toxoplasma gondii) infection and decreased cytokine secretion in stimulated splenocytes. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aco1 |
A |
G |
4: 40,175,893 (GRCm39) |
I176V |
probably damaging |
Het |
| Aldh1l2 |
T |
C |
10: 83,358,777 (GRCm39) |
T73A |
probably benign |
Het |
| Btaf1 |
G |
T |
19: 36,969,900 (GRCm39) |
L1191F |
probably damaging |
Het |
| Caskin1 |
G |
A |
17: 24,718,331 (GRCm39) |
|
probably benign |
Het |
| Clcn3 |
T |
C |
8: 61,376,022 (GRCm39) |
T624A |
probably benign |
Het |
| Dicer1 |
A |
G |
12: 104,679,366 (GRCm39) |
V537A |
probably damaging |
Het |
| Dock4 |
A |
G |
12: 40,867,757 (GRCm39) |
|
probably null |
Het |
| Dsp |
A |
T |
13: 38,370,671 (GRCm39) |
Y858F |
probably damaging |
Het |
| Eya1 |
A |
G |
1: 14,249,751 (GRCm39) |
Y550H |
probably damaging |
Het |
| Frmpd1 |
A |
G |
4: 45,261,926 (GRCm39) |
K204E |
probably damaging |
Het |
| Frrs1l |
G |
A |
4: 56,968,121 (GRCm39) |
T217M |
probably damaging |
Het |
| Fsip2 |
G |
A |
2: 82,807,737 (GRCm39) |
S1352N |
possibly damaging |
Het |
| Hfm1 |
T |
C |
5: 107,004,795 (GRCm39) |
D1177G |
probably damaging |
Het |
| Itih4 |
G |
A |
14: 30,609,801 (GRCm39) |
V44I |
probably damaging |
Het |
| Kif2c |
A |
G |
4: 117,023,533 (GRCm39) |
M393T |
probably benign |
Het |
| Klhdc10 |
T |
A |
6: 30,447,991 (GRCm39) |
|
probably benign |
Het |
| Lrch1 |
G |
T |
14: 75,095,482 (GRCm39) |
H119Q |
probably damaging |
Het |
| Ncam2 |
A |
T |
16: 81,231,788 (GRCm39) |
N84I |
probably benign |
Het |
| Nlrx1 |
A |
G |
9: 44,167,890 (GRCm39) |
V669A |
probably benign |
Het |
| Pdcl3 |
A |
G |
1: 39,034,917 (GRCm39) |
N158S |
probably benign |
Het |
| Polk |
C |
T |
13: 96,625,719 (GRCm39) |
A362T |
probably damaging |
Het |
| Rnf40 |
T |
A |
7: 127,192,063 (GRCm39) |
L403* |
probably null |
Het |
| Skint5 |
T |
C |
4: 113,599,379 (GRCm39) |
D720G |
unknown |
Het |
| Snx6 |
A |
G |
12: 54,812,469 (GRCm39) |
|
probably benign |
Het |
| St6galnac2 |
A |
T |
11: 116,581,128 (GRCm39) |
|
probably benign |
Het |
| Stk26 |
A |
T |
X: 49,959,275 (GRCm39) |
D62V |
probably damaging |
Het |
| Tgds |
G |
A |
14: 118,364,919 (GRCm39) |
Q101* |
probably null |
Het |
| Tmem135 |
C |
A |
7: 88,791,161 (GRCm39) |
R421L |
probably damaging |
Het |
| Tspyl4 |
T |
A |
10: 34,174,135 (GRCm39) |
V209E |
probably damaging |
Het |
| Tulp2 |
C |
A |
7: 45,165,696 (GRCm39) |
P98Q |
probably damaging |
Het |
| Usp30 |
A |
G |
5: 114,259,119 (GRCm39) |
T398A |
probably benign |
Het |
| Vmn1r8 |
A |
G |
6: 57,013,776 (GRCm39) |
T276A |
probably benign |
Het |
| Xdh |
G |
A |
17: 74,202,781 (GRCm39) |
A1123V |
possibly damaging |
Het |
| Zfp60 |
T |
A |
7: 27,447,759 (GRCm39) |
Y142* |
probably null |
Het |
|
| Other mutations in Txk |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02337:Txk
|
APN |
5 |
72,864,889 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02602:Txk
|
APN |
5 |
72,865,063 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
BB007:Txk
|
UTSW |
5 |
72,892,536 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB017:Txk
|
UTSW |
5 |
72,892,536 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0402:Txk
|
UTSW |
5 |
72,889,105 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1509:Txk
|
UTSW |
5 |
72,856,453 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1511:Txk
|
UTSW |
5 |
72,865,014 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1785:Txk
|
UTSW |
5 |
72,853,922 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1786:Txk
|
UTSW |
5 |
72,853,922 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2131:Txk
|
UTSW |
5 |
72,853,922 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2913:Txk
|
UTSW |
5 |
72,881,794 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2914:Txk
|
UTSW |
5 |
72,881,794 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3722:Txk
|
UTSW |
5 |
72,865,078 (GRCm39) |
nonsense |
probably null |
|
|
R4080:Txk
|
UTSW |
5 |
72,858,006 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5341:Txk
|
UTSW |
5 |
72,853,964 (GRCm39) |
missense |
probably benign |
0.08 |
|
R5580:Txk
|
UTSW |
5 |
72,864,932 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6155:Txk
|
UTSW |
5 |
72,858,069 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6310:Txk
|
UTSW |
5 |
72,893,760 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6382:Txk
|
UTSW |
5 |
72,893,823 (GRCm39) |
intron |
probably benign |
|
|
R6938:Txk
|
UTSW |
5 |
72,856,492 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7225:Txk
|
UTSW |
5 |
72,858,057 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7327:Txk
|
UTSW |
5 |
72,873,226 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7337:Txk
|
UTSW |
5 |
72,889,109 (GRCm39) |
nonsense |
probably null |
|
|
R7436:Txk
|
UTSW |
5 |
72,853,922 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7510:Txk
|
UTSW |
5 |
72,893,726 (GRCm39) |
missense |
unknown |
|
|
R7709:Txk
|
UTSW |
5 |
72,864,918 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7725:Txk
|
UTSW |
5 |
72,864,900 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7930:Txk
|
UTSW |
5 |
72,892,536 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8124:Txk
|
UTSW |
5 |
72,860,606 (GRCm39) |
splice site |
probably null |
|
|
R8531:Txk
|
UTSW |
5 |
72,893,720 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R8754:Txk
|
UTSW |
5 |
72,889,122 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8901:Txk
|
UTSW |
5 |
72,858,050 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9245:Txk
|
UTSW |
5 |
72,891,610 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Txk
|
UTSW |
5 |
72,892,554 (GRCm39) |
missense |
unknown |
|
|
| Posted On |
2016-08-02 |
Incidental Mutation