Incidental Mutation 'IGL02602:Txk'
| ID |
300121 |
| 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 # |
IGL02602
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
72853321-72910120 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 72865063 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glycine
at position 271
(R271G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143002
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000113604]
[ENSMUST00000169534]
[ENSMUST00000197313]
[ENSMUST00000198464]
|
| AlphaFold |
P42682 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000113604
AA Change: R325G
PolyPhen 2
Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000109234
Gene: ENSMUSG00000054892
AA Change: R325G
| 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 |
possibly damaging
Transcript: ENSMUST00000169534
AA Change: R325G
PolyPhen 2
Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000129397
Gene: ENSMUSG00000054892
AA Change: R325G
| 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: ENSMUST00000197313
AA Change: R303G
PolyPhen 2
Score 0.288 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000143476
Gene: ENSMUSG00000054892
AA Change: R303G
| 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 |
possibly damaging
Transcript: ENSMUST00000198464
AA Change: R271G
PolyPhen 2
Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000143002
Gene: ENSMUSG00000054892
AA Change: R271G
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsf2 |
A |
G |
11: 94,461,291 (GRCm39) |
|
probably benign |
Het |
| Arhgap20 |
A |
T |
9: 51,737,143 (GRCm39) |
I148F |
probably damaging |
Het |
| Arhgef10 |
C |
T |
8: 14,980,198 (GRCm39) |
A146V |
probably benign |
Het |
| Cdk13 |
A |
G |
13: 17,901,745 (GRCm39) |
F997L |
probably damaging |
Het |
| Cep162 |
G |
A |
9: 87,128,206 (GRCm39) |
H170Y |
probably benign |
Het |
| Clasp1 |
T |
C |
1: 118,399,515 (GRCm39) |
F220L |
probably damaging |
Het |
| Clock |
C |
A |
5: 76,402,273 (GRCm39) |
G129V |
probably null |
Het |
| Clock |
C |
T |
5: 76,402,274 (GRCm39) |
G129R |
probably damaging |
Het |
| Cybrd1 |
T |
C |
2: 70,948,492 (GRCm39) |
L10P |
probably damaging |
Het |
| Cyp7a1 |
A |
G |
4: 6,272,871 (GRCm39) |
I114T |
possibly damaging |
Het |
| Epha7 |
T |
A |
4: 28,871,877 (GRCm39) |
V402D |
possibly damaging |
Het |
| Fam228a |
G |
A |
12: 4,782,808 (GRCm39) |
T95I |
probably benign |
Het |
| Gm7589 |
C |
T |
9: 59,053,441 (GRCm39) |
|
noncoding transcript |
Het |
| Klf4 |
C |
A |
4: 55,530,595 (GRCm39) |
R172L |
probably damaging |
Het |
| Macf1 |
A |
G |
4: 123,248,956 (GRCm39) |
S7190P |
probably damaging |
Het |
| Mga |
A |
G |
2: 119,762,365 (GRCm39) |
T1119A |
possibly damaging |
Het |
| Nmur2 |
T |
A |
11: 55,917,889 (GRCm39) |
T367S |
probably benign |
Het |
| Ogfr |
A |
G |
2: 180,237,230 (GRCm39) |
D605G |
possibly damaging |
Het |
| Or4f61 |
A |
G |
2: 111,922,906 (GRCm39) |
F47L |
probably benign |
Het |
| Pcdhb1 |
A |
T |
18: 37,399,849 (GRCm39) |
N600I |
probably damaging |
Het |
| Pkhd1l1 |
T |
C |
15: 44,421,327 (GRCm39) |
S3032P |
probably damaging |
Het |
| Ppp2r5e |
A |
G |
12: 75,540,213 (GRCm39) |
L144P |
probably damaging |
Het |
| Rnf123 |
G |
A |
9: 107,945,501 (GRCm39) |
R390* |
probably null |
Het |
| Ryr2 |
T |
C |
13: 11,569,397 (GRCm39) |
|
probably benign |
Het |
| Scarb2 |
A |
G |
5: 92,596,415 (GRCm39) |
Y410H |
probably benign |
Het |
| Slc12a1 |
A |
G |
2: 124,996,162 (GRCm39) |
Y105C |
probably damaging |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| Stt3b |
A |
T |
9: 115,105,846 (GRCm39) |
S210T |
probably damaging |
Het |
| Sulf2 |
T |
C |
2: 165,923,220 (GRCm39) |
H635R |
probably benign |
Het |
| Tmem167 |
C |
A |
13: 90,252,499 (GRCm39) |
R52S |
probably damaging |
Het |
| Tsga13 |
G |
A |
6: 30,879,212 (GRCm39) |
T167I |
possibly damaging |
Het |
| Vmn1r191 |
T |
C |
13: 22,363,635 (GRCm39) |
K40E |
probably damaging |
Het |
| Vmn1r69 |
T |
A |
7: 10,313,901 (GRCm39) |
N277Y |
probably benign |
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 |
|
IGL03353:Txk
|
APN |
5 |
72,893,745 (GRCm39) |
missense |
probably benign |
|
|
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 |
2015-04-16 |
Incidental Mutation