Incidental Mutation 'R2913:Txk'
ID |
254744 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Txk
|
Ensembl Gene |
ENSMUSG00000054892 |
Gene Name |
TXK tyrosine kinase |
Synonyms |
PTK4, A130089B16Rik, Rlk, Btkl |
MMRRC Submission |
040500-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2913 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
72853321-72910120 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 72881794 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 154
(N154S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000129397
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000113604]
[ENSMUST00000169534]
[ENSMUST00000197313]
[ENSMUST00000198464]
|
AlphaFold |
P42682 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000113604
AA Change: N154S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000109234 Gene: ENSMUSG00000054892 AA Change: N154S
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: N154S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000129397 Gene: ENSMUSG00000054892 AA Change: N154S
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: ENSMUST00000197313
AA Change: N132S
PolyPhen 2
Score 0.778 (Sensitivity: 0.85; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000143476 Gene: ENSMUSG00000054892 AA Change: N132S
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: N100S
PolyPhen 2
Score 0.767 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000143002 Gene: ENSMUSG00000054892 AA Change: N100S
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: ENSMUST00000198684
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198970
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198798
|
Meta Mutation Damage Score |
0.1066 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.5%
- 20x: 95.7%
|
Validation Efficiency |
100% (58/58) |
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acap2 |
T |
C |
16: 30,934,887 (GRCm39) |
Q357R |
probably damaging |
Het |
Adap1 |
C |
T |
5: 139,260,576 (GRCm39) |
|
probably null |
Het |
Adgrf3 |
A |
G |
5: 30,401,992 (GRCm39) |
S679P |
probably damaging |
Het |
Aldh3b1 |
T |
C |
19: 3,971,275 (GRCm39) |
|
probably benign |
Het |
Arih2 |
A |
G |
9: 108,521,275 (GRCm39) |
S68P |
probably damaging |
Het |
Cdcp3 |
T |
C |
7: 130,783,753 (GRCm39) |
S49P |
possibly damaging |
Het |
Col1a2 |
C |
T |
6: 4,519,923 (GRCm39) |
|
probably benign |
Het |
Cplane1 |
T |
C |
15: 8,300,169 (GRCm39) |
S3159P |
unknown |
Het |
Crocc |
C |
T |
4: 140,747,661 (GRCm39) |
R1496H |
probably damaging |
Het |
Cryl1 |
T |
C |
14: 57,513,375 (GRCm39) |
E282G |
probably benign |
Het |
Cyp11b1 |
T |
C |
15: 74,708,270 (GRCm39) |
T402A |
probably damaging |
Het |
Etfa |
C |
A |
9: 55,389,613 (GRCm39) |
A254S |
probably damaging |
Het |
Fcgbpl1 |
A |
T |
7: 27,863,732 (GRCm39) |
L2501F |
probably damaging |
Het |
Fdxacb1 |
C |
T |
9: 50,679,699 (GRCm39) |
A39V |
probably benign |
Het |
Fras1 |
G |
A |
5: 96,881,774 (GRCm39) |
R2502K |
probably benign |
Het |
Gpr157 |
G |
A |
4: 150,183,222 (GRCm39) |
V131I |
probably benign |
Het |
Hbb-bh1 |
C |
T |
7: 103,492,254 (GRCm39) |
E22K |
possibly damaging |
Het |
Hmcn2 |
A |
G |
2: 31,350,222 (GRCm39) |
T5040A |
possibly damaging |
Het |
Hprt1 |
T |
C |
X: 52,109,016 (GRCm39) |
Y174H |
probably damaging |
Het |
Igsf10 |
T |
A |
3: 59,239,157 (GRCm39) |
L341F |
possibly damaging |
Het |
Ints1 |
A |
G |
5: 139,743,668 (GRCm39) |
S1592P |
possibly damaging |
Het |
Itgam |
T |
C |
7: 127,711,578 (GRCm39) |
I641T |
probably damaging |
Het |
Macf1 |
T |
A |
4: 123,369,704 (GRCm39) |
I121F |
probably damaging |
Het |
Mapk3 |
T |
A |
7: 126,359,978 (GRCm39) |
C19* |
probably null |
Het |
Mapk4 |
C |
T |
18: 74,068,236 (GRCm39) |
A232T |
probably benign |
Het |
Med26 |
T |
G |
8: 73,249,956 (GRCm39) |
K381T |
possibly damaging |
Het |
Mki67 |
T |
C |
7: 135,302,415 (GRCm39) |
E873G |
possibly damaging |
Het |
Mrgpra9 |
T |
C |
7: 46,884,828 (GRCm39) |
I280V |
probably benign |
Het |
Mroh9 |
T |
C |
1: 162,871,572 (GRCm39) |
Y637C |
probably damaging |
Het |
Nktr |
T |
C |
9: 121,578,670 (GRCm39) |
|
probably benign |
Het |
Or4c11 |
A |
T |
2: 88,695,458 (GRCm39) |
N170Y |
probably benign |
Het |
Or5j3 |
A |
G |
2: 86,128,733 (GRCm39) |
D191G |
probably damaging |
Het |
Pam |
A |
C |
1: 97,850,854 (GRCm39) |
L168R |
probably damaging |
Het |
Pikfyve |
G |
A |
1: 65,292,676 (GRCm39) |
V1376M |
probably damaging |
Het |
Pomt2 |
A |
T |
12: 87,175,743 (GRCm39) |
N400K |
probably damaging |
Het |
Pramel13 |
T |
C |
4: 144,119,304 (GRCm39) |
E421G |
probably damaging |
Het |
Rbm45 |
C |
T |
2: 76,205,798 (GRCm39) |
P217S |
probably benign |
Het |
Rc3h2 |
A |
G |
2: 37,268,971 (GRCm39) |
S832P |
possibly damaging |
Het |
Ric3 |
A |
G |
7: 108,653,660 (GRCm39) |
F144L |
possibly damaging |
Het |
Rrh |
G |
T |
3: 129,609,258 (GRCm39) |
A83E |
probably damaging |
Het |
Rspo2 |
T |
A |
15: 42,941,510 (GRCm39) |
T138S |
probably benign |
Het |
Skint5 |
A |
G |
4: 113,381,289 (GRCm39) |
|
probably benign |
Het |
Snx29 |
C |
T |
16: 11,265,317 (GRCm39) |
R516W |
probably damaging |
Het |
Spata31d1d |
T |
C |
13: 59,874,769 (GRCm39) |
E922G |
possibly damaging |
Het |
Spc25 |
T |
C |
2: 69,030,331 (GRCm39) |
H104R |
probably benign |
Het |
Sptssa |
A |
T |
12: 54,703,267 (GRCm39) |
M1K |
probably null |
Het |
Srrm2 |
G |
T |
17: 24,034,658 (GRCm39) |
|
probably benign |
Het |
Tcof1 |
T |
C |
18: 60,949,156 (GRCm39) |
D1253G |
possibly damaging |
Het |
Tmem181c-ps |
A |
G |
17: 6,888,608 (GRCm39) |
|
noncoding transcript |
Het |
Tmprss15 |
T |
C |
16: 78,759,078 (GRCm39) |
N880S |
probably benign |
Het |
Trio |
T |
A |
15: 27,854,998 (GRCm39) |
Q728L |
probably damaging |
Het |
Vwf |
T |
A |
6: 125,662,809 (GRCm39) |
V2731E |
probably benign |
Het |
Yes1 |
T |
C |
5: 32,797,926 (GRCm39) |
S82P |
probably benign |
Het |
Zgrf1 |
T |
C |
3: 127,392,356 (GRCm39) |
V1292A |
possibly damaging |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- TTTCTGAAATGATGAAGGCAGTCAG -3'
(R):5'- ACTTCATGGGCCAGAAGAGG -3'
Sequencing Primer
(F):5'- GGTGATCTTATGAAGACACATCAG -3'
(R):5'- GGGATGTGAGCTATGGTAGAATAATC -3'
|
Posted On |
2014-12-29 |