Incidental Mutation 'R7725:Txk'
ID |
595436 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Txk
|
Ensembl Gene |
ENSMUSG00000054892 |
Gene Name |
TXK tyrosine kinase |
Synonyms |
PTK4, A130089B16Rik, Rlk, Btkl |
MMRRC Submission |
045781-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7725 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
72853321-72910120 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 72864900 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Valine
at position 379
(A379V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000109234
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000113604]
[ENSMUST00000169534]
[ENSMUST00000197313]
[ENSMUST00000198464]
|
AlphaFold |
P42682 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000113604
AA Change: A379V
PolyPhen 2
Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000109234 Gene: ENSMUSG00000054892 AA Change: A379V
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 damaging
Transcript: ENSMUST00000169534
AA Change: A379V
PolyPhen 2
Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000129397 Gene: ENSMUSG00000054892 AA Change: A379V
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: A357V
PolyPhen 2
Score 0.404 (Sensitivity: 0.89; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000143476 Gene: ENSMUSG00000054892 AA Change: A357V
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 |
probably damaging
Transcript: ENSMUST00000198464
AA Change: A325V
PolyPhen 2
Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000143002 Gene: ENSMUSG00000054892 AA Change: A325V
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 |
|
Meta Mutation Damage Score |
0.6329 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.3%
|
Validation Efficiency |
100% (41/41) |
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: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Anxa2 |
A |
T |
9: 69,387,410 (GRCm39) |
K6N |
unknown |
Het |
Arhgap20 |
T |
A |
9: 51,743,050 (GRCm39) |
M296K |
possibly damaging |
Het |
Bdh1 |
G |
A |
16: 31,256,910 (GRCm39) |
V20I |
not run |
Het |
Bop1 |
A |
G |
15: 76,339,583 (GRCm39) |
I254T |
probably benign |
Het |
C1ra |
G |
A |
6: 124,494,684 (GRCm39) |
E316K |
probably benign |
Het |
Cct4 |
A |
G |
11: 22,940,814 (GRCm39) |
K21E |
probably benign |
Het |
Cercam |
G |
A |
2: 29,762,574 (GRCm39) |
|
probably null |
Het |
Clip2 |
A |
T |
5: 134,546,853 (GRCm39) |
Y238* |
probably null |
Het |
Col19a1 |
A |
T |
1: 24,309,525 (GRCm39) |
S1043T |
possibly damaging |
Het |
Ctcf |
A |
G |
8: 106,390,468 (GRCm39) |
Y25C |
probably damaging |
Het |
Dennd4c |
C |
T |
4: 86,704,330 (GRCm39) |
R282C |
probably benign |
Het |
Eef1g |
T |
A |
19: 8,955,427 (GRCm39) |
H425Q |
probably benign |
Het |
Fam131b |
C |
T |
6: 42,295,476 (GRCm39) |
A234T |
probably benign |
Het |
Fam184a |
C |
A |
10: 53,509,802 (GRCm39) |
E126* |
probably null |
Het |
Fam187b |
A |
G |
7: 30,677,139 (GRCm39) |
D216G |
possibly damaging |
Het |
Gabra1 |
A |
T |
11: 42,026,270 (GRCm39) |
Y341N |
possibly damaging |
Het |
Glb1l3 |
T |
A |
9: 26,739,659 (GRCm39) |
|
probably null |
Het |
Gm3667 |
T |
A |
14: 18,271,599 (GRCm39) |
Q52L |
probably damaging |
Het |
Gpr179 |
C |
T |
11: 97,242,118 (GRCm39) |
R242H |
probably damaging |
Het |
Gulo |
T |
C |
14: 66,245,522 (GRCm39) |
Y24C |
probably damaging |
Het |
Hectd4 |
A |
T |
5: 121,358,680 (GRCm39) |
E49V |
unknown |
Het |
Htra4 |
A |
G |
8: 25,527,169 (GRCm39) |
S209P |
possibly damaging |
Het |
Lmntd1 |
A |
G |
6: 145,489,196 (GRCm39) |
S22P |
probably benign |
Het |
Lypd8l |
A |
T |
11: 58,499,325 (GRCm39) |
N164K |
probably benign |
Het |
Med12l |
A |
G |
3: 59,163,413 (GRCm39) |
K1347E |
probably damaging |
Het |
Mrc1 |
C |
A |
2: 14,284,788 (GRCm39) |
D592E |
probably benign |
Het |
Muc15 |
A |
G |
2: 110,562,143 (GRCm39) |
D193G |
probably damaging |
Het |
Ncor2 |
A |
G |
5: 125,100,630 (GRCm39) |
V1316A |
|
Het |
Odad1 |
T |
A |
7: 45,597,835 (GRCm39) |
S582T |
probably damaging |
Het |
Or2t43 |
A |
G |
11: 58,457,593 (GRCm39) |
Y193H |
probably damaging |
Het |
Or2y10 |
A |
T |
11: 49,455,359 (GRCm39) |
I204L |
probably benign |
Het |
Or5t16 |
T |
C |
2: 86,819,323 (GRCm39) |
I66V |
probably benign |
Het |
Serpina6 |
A |
T |
12: 103,614,936 (GRCm39) |
Y303* |
probably null |
Het |
Shld2 |
T |
G |
14: 33,990,661 (GRCm39) |
T82P |
possibly damaging |
Het |
Shroom3 |
T |
C |
5: 93,089,512 (GRCm39) |
L754P |
probably benign |
Het |
Skint5 |
C |
A |
4: 113,685,099 (GRCm39) |
L539F |
unknown |
Het |
St3gal4 |
C |
A |
9: 34,964,375 (GRCm39) |
R209L |
possibly damaging |
Het |
Tex14 |
A |
C |
11: 87,385,868 (GRCm39) |
T243P |
probably damaging |
Het |
Ttc12 |
T |
A |
9: 49,351,602 (GRCm39) |
M632L |
probably benign |
Het |
Ttn |
T |
C |
2: 76,738,116 (GRCm39) |
E4187G |
unknown |
Het |
Wdr43 |
A |
G |
17: 71,923,338 (GRCm39) |
Y28C |
probably benign |
Het |
Zfp1005 |
A |
G |
2: 150,110,468 (GRCm39) |
Y386C |
unknown |
Het |
Zfp40 |
A |
G |
17: 23,397,251 (GRCm39) |
V82A |
probably benign |
Het |
Zfp994 |
A |
T |
17: 22,419,091 (GRCm39) |
N619K |
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 |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- TGCAGGGCCTTGGCTTAAAC -3'
(R):5'- AACTGTCACATTCGAGGTTAGTTC -3'
Sequencing Primer
(F):5'- TTGGCTTAAACCACCAGCATTG -3'
(R):5'- CATTCGAGGTTAGTTCAACTTTACGG -3'
|
Posted On |
2019-11-12 |