Incidental Mutation 'IGL02337:Txk'
ID |
288887 |
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 # |
IGL02337
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
72853321-72910120 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 72864889 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Glycine
at position 329
(R329G)
|
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: R383G
PolyPhen 2
Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000109234 Gene: ENSMUSG00000054892 AA Change: R383G
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: R383G
PolyPhen 2
Score 0.905 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000129397 Gene: ENSMUSG00000054892 AA Change: R383G
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: R361G
PolyPhen 2
Score 0.429 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000143476 Gene: ENSMUSG00000054892 AA Change: R361G
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: R329G
PolyPhen 2
Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000143002 Gene: ENSMUSG00000054892 AA Change: R329G
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: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aaas |
A |
G |
15: 102,247,662 (GRCm39) |
V403A |
probably benign |
Het |
Afm |
A |
G |
5: 90,695,770 (GRCm39) |
T426A |
probably benign |
Het |
Atp8a2 |
T |
C |
14: 60,235,451 (GRCm39) |
D697G |
probably benign |
Het |
Barhl1 |
G |
T |
2: 28,801,431 (GRCm39) |
S204R |
probably damaging |
Het |
Ceacam11 |
T |
A |
7: 17,707,550 (GRCm39) |
S111R |
probably benign |
Het |
Cenpe |
A |
G |
3: 134,926,037 (GRCm39) |
|
probably benign |
Het |
Cnot11 |
G |
A |
1: 39,583,964 (GRCm39) |
|
probably benign |
Het |
Ctc1 |
A |
G |
11: 68,916,957 (GRCm39) |
T284A |
probably damaging |
Het |
Ephb3 |
A |
G |
16: 21,040,253 (GRCm39) |
|
probably null |
Het |
Fsip1 |
T |
A |
2: 118,082,195 (GRCm39) |
K80* |
probably null |
Het |
Gaa |
G |
T |
11: 119,168,429 (GRCm39) |
G220C |
probably damaging |
Het |
Gna15 |
T |
C |
10: 81,350,244 (GRCm39) |
S53G |
probably damaging |
Het |
Hfm1 |
A |
T |
5: 107,052,133 (GRCm39) |
M321K |
possibly damaging |
Het |
Hgfac |
C |
A |
5: 35,199,722 (GRCm39) |
T68K |
probably benign |
Het |
Hmgxb4 |
C |
T |
8: 75,726,259 (GRCm39) |
R35W |
probably damaging |
Het |
Itfg2 |
T |
C |
6: 128,390,533 (GRCm39) |
D184G |
probably benign |
Het |
Kirrel1 |
G |
A |
3: 86,996,519 (GRCm39) |
T360I |
possibly damaging |
Het |
Lrp1 |
T |
C |
10: 127,412,756 (GRCm39) |
Q1240R |
possibly damaging |
Het |
Lrrk1 |
G |
T |
7: 65,929,164 (GRCm39) |
T1156N |
possibly damaging |
Het |
Olfm1 |
A |
G |
2: 28,119,697 (GRCm39) |
Y429C |
probably damaging |
Het |
Or4k77 |
T |
G |
2: 111,199,496 (GRCm39) |
V173G |
probably benign |
Het |
Or5t5 |
T |
A |
2: 86,616,518 (GRCm39) |
M148K |
probably damaging |
Het |
Pafah1b2 |
C |
T |
9: 45,884,287 (GRCm39) |
V122I |
probably benign |
Het |
Pdcd1 |
T |
C |
1: 93,968,582 (GRCm39) |
T151A |
probably benign |
Het |
Pkd1l1 |
T |
C |
11: 8,892,079 (GRCm39) |
S697G |
probably damaging |
Het |
Rgs12 |
T |
A |
5: 35,177,697 (GRCm39) |
F96I |
probably damaging |
Het |
Sptbn4 |
T |
C |
7: 27,127,672 (GRCm39) |
D176G |
probably benign |
Het |
Tarbp2 |
C |
A |
15: 102,430,428 (GRCm39) |
Q148K |
probably damaging |
Het |
Unc79 |
T |
A |
12: 103,122,705 (GRCm39) |
|
probably benign |
Het |
Vmn1r73 |
C |
A |
7: 11,490,640 (GRCm39) |
P153T |
possibly damaging |
Het |
Zeb2 |
G |
A |
2: 44,887,242 (GRCm39) |
T605I |
probably damaging |
Het |
Zfp654 |
A |
G |
16: 64,605,512 (GRCm39) |
S897P |
probably benign |
Het |
|
Other mutations in Txk |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02602:Txk
|
APN |
5 |
72,865,063 (GRCm39) |
missense |
possibly damaging |
0.89 |
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 |