Incidental Mutation 'R5287:Tk1'
| ID |
424422 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tk1
|
| Ensembl Gene |
ENSMUSG00000025574 |
| Gene Name |
thymidine kinase 1 |
| Synonyms |
D530002A18Rik, Tk-1 |
| MMRRC Submission |
042871-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5287 (G1)
|
| Quality Score |
124 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
117706352-117716918 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 117707367 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 140
(V140E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000026661
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026649]
[ENSMUST00000026661]
[ENSMUST00000120928]
[ENSMUST00000132298]
[ENSMUST00000143852]
[ENSMUST00000177131]
[ENSMUST00000177241]
|
| AlphaFold |
P04184 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026649
|
| SMART Domains |
Protein: ENSMUSP00000026649
Gene: ENSMUSG00000048277
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
13 |
N/A |
INTRINSIC |
|
Pfam:MARVEL
|
20 |
165 |
1.1e-24 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000026661
AA Change: V140E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000026661
Gene: ENSMUSG00000025574
AA Change: V140E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TK
|
19 |
189 |
9.8e-73 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000120928
|
| SMART Domains |
Protein: ENSMUSP00000113941
Gene: ENSMUSG00000048277
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
13 |
N/A |
INTRINSIC |
|
Pfam:MARVEL
|
21 |
135 |
1.4e-18 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132298
|
| SMART Domains |
Protein: ENSMUSP00000135368
Gene: ENSMUSG00000093485
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
13 |
N/A |
INTRINSIC |
|
low complexity region
|
34 |
43 |
N/A |
INTRINSIC |
|
low complexity region
|
90 |
102 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141939
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000143852
|
| SMART Domains |
Protein: ENSMUSP00000135529
Gene: ENSMUSG00000048277
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MARVEL
|
14 |
118 |
8e-18 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153872
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176936
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000175737
|
| SMART Domains |
Protein: ENSMUSP00000134879
Gene: ENSMUSG00000048277
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
1 |
11 |
N/A |
INTRINSIC |
|
Pfam:MARVEL
|
18 |
121 |
1.4e-13 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177131
|
| SMART Domains |
Protein: ENSMUSP00000134789
Gene: ENSMUSG00000048277
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
13 |
N/A |
INTRINSIC |
|
Pfam:MARVEL
|
20 |
162 |
3.6e-24 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177241
|
| Meta Mutation Damage Score |
0.9397 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.7%
|
| Validation Efficiency |
98% (56/57) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a cytosolic enzyme that catalyzes the addition of a gamma-phosphate group to thymidine. This creates dTMP and is the first step in the biosynthesis of dTTP, which is one component required for DNA replication. The encoded protein, whose levels fluctuate depending on the cell cycle stage, can act as a low activity dimer or a high activity tetramer. High levels of this protein have been used as a biomarker for diagnosing and categorizing many types of cancers. [provided by RefSeq, Oct 2016]
PHENOTYPE: Nullizygous mice show partial postnatal lethality, poor fertility, hemosiderosis, lymphocyte and spleen anomalies, altered sublingual gland secretion, inflammation of the arteries, lung, liver and thyroid, abnormal spermatogenesis and glomerulosclerosis leading to kidney failure and premature death. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Accs |
T |
C |
2: 93,666,298 (GRCm39) |
D463G |
probably damaging |
Het |
| Acsbg3 |
G |
T |
17: 57,183,221 (GRCm39) |
|
probably benign |
Het |
| Adcy8 |
C |
T |
15: 64,588,001 (GRCm39) |
V929I |
probably benign |
Het |
| Anp32a |
A |
T |
9: 62,249,275 (GRCm39) |
I16F |
possibly damaging |
Het |
| Arpin |
T |
C |
7: 79,577,997 (GRCm39) |
E144G |
probably damaging |
Het |
| Asb18 |
T |
C |
1: 89,942,110 (GRCm39) |
T64A |
probably benign |
Het |
| Asxl2 |
A |
G |
12: 3,546,893 (GRCm39) |
N559S |
probably benign |
Het |
| Brd7 |
G |
T |
8: 89,084,169 (GRCm39) |
Q148K |
probably damaging |
Het |
| Brinp1 |
A |
G |
4: 68,711,201 (GRCm39) |
W336R |
probably benign |
Het |
| Btnl9 |
A |
G |
11: 49,060,434 (GRCm39) |
V438A |
probably benign |
Het |
| Cat |
T |
C |
2: 103,304,705 (GRCm39) |
T107A |
probably damaging |
Het |
| Catsperg2 |
T |
C |
7: 29,397,263 (GRCm39) |
Y1080C |
possibly damaging |
Het |
| Ccdc138 |
T |
A |
10: 58,411,527 (GRCm39) |
F632I |
possibly damaging |
Het |
| Cd46 |
C |
T |
1: 194,744,719 (GRCm39) |
V340I |
possibly damaging |
Het |
| Celf1 |
T |
C |
2: 90,839,552 (GRCm39) |
S326P |
possibly damaging |
Het |
| Ces1e |
T |
G |
8: 93,935,240 (GRCm39) |
D404A |
probably benign |
Het |
| Chd3 |
A |
T |
11: 69,239,895 (GRCm39) |
|
probably null |
Het |
| Clhc1 |
A |
G |
11: 29,528,244 (GRCm39) |
|
probably benign |
Het |
| Cops8 |
C |
T |
1: 90,534,342 (GRCm39) |
|
probably benign |
Het |
| Cpox |
G |
A |
16: 58,495,649 (GRCm39) |
G322D |
probably damaging |
Het |
| Csmd2 |
C |
T |
4: 128,380,677 (GRCm39) |
R2078C |
probably benign |
Het |
| Dnm1l |
A |
C |
16: 16,151,732 (GRCm39) |
V240G |
probably damaging |
Het |
| Fezf1 |
C |
T |
6: 23,248,010 (GRCm39) |
V22M |
probably benign |
Het |
| Gm6818 |
T |
G |
7: 38,099,911 (GRCm39) |
|
noncoding transcript |
Het |
| Hand2 |
C |
T |
8: 57,775,080 (GRCm39) |
L47F |
probably damaging |
Het |
| Insyn2b |
A |
T |
11: 34,353,058 (GRCm39) |
T367S |
probably benign |
Het |
| Itga7 |
C |
A |
10: 128,779,027 (GRCm39) |
R351S |
probably benign |
Het |
| Mmp8 |
G |
T |
9: 7,567,507 (GRCm39) |
A456S |
probably benign |
Het |
| Mroh5 |
TGGAG |
TG |
15: 73,654,923 (GRCm39) |
|
probably benign |
Het |
| Opn4 |
T |
C |
14: 34,314,894 (GRCm39) |
T460A |
probably benign |
Het |
| Or6b2 |
A |
T |
1: 92,408,019 (GRCm39) |
V108E |
possibly damaging |
Het |
| Otog |
T |
C |
7: 45,918,753 (GRCm39) |
F943S |
probably damaging |
Het |
| Pcnx1 |
A |
T |
12: 82,028,825 (GRCm39) |
Y1668F |
probably damaging |
Het |
| Pheta1 |
A |
G |
5: 121,990,794 (GRCm39) |
E52G |
possibly damaging |
Het |
| Phf24 |
A |
T |
4: 42,933,831 (GRCm39) |
|
probably null |
Het |
| Phkg2 |
GCTGCCGGACGAGTGGCCT |
GCT |
7: 127,181,929 (GRCm39) |
|
probably null |
Het |
| Ppargc1a |
G |
A |
5: 51,620,167 (GRCm39) |
|
probably benign |
Het |
| Ptprd |
G |
A |
4: 75,872,405 (GRCm39) |
R1355* |
probably null |
Het |
| Ptprn2 |
A |
T |
12: 117,175,482 (GRCm39) |
M721L |
probably damaging |
Het |
| Sec23ip |
A |
G |
7: 128,367,860 (GRCm39) |
E624G |
probably benign |
Het |
| Sfmbt1 |
G |
A |
14: 30,538,777 (GRCm39) |
V799M |
probably damaging |
Het |
| Snrnp200 |
T |
C |
2: 127,073,607 (GRCm39) |
V1335A |
probably benign |
Het |
| Sp140 |
G |
A |
1: 85,538,545 (GRCm39) |
|
probably null |
Het |
| Spdye4c |
T |
C |
2: 128,434,560 (GRCm39) |
S46P |
possibly damaging |
Het |
| Syde1 |
T |
C |
10: 78,425,871 (GRCm39) |
R99G |
probably benign |
Het |
| T2 |
A |
T |
17: 8,636,835 (GRCm39) |
M57L |
probably benign |
Het |
| Tasor2 |
G |
A |
13: 3,625,744 (GRCm39) |
S1402L |
probably benign |
Het |
| Tfap2e |
T |
C |
4: 126,628,439 (GRCm39) |
I172M |
probably benign |
Het |
| Tln2 |
G |
A |
9: 67,149,641 (GRCm39) |
T1192M |
probably damaging |
Het |
| Tmed8 |
C |
A |
12: 87,220,957 (GRCm39) |
A210S |
probably damaging |
Het |
| Tnip2 |
A |
G |
5: 34,671,108 (GRCm39) |
L45P |
probably damaging |
Het |
| Ttc3 |
T |
C |
16: 94,260,703 (GRCm39) |
V1396A |
probably benign |
Het |
| Ttn |
G |
T |
2: 76,562,436 (GRCm39) |
S28803Y |
probably damaging |
Het |
| Wdr90 |
A |
T |
17: 26,080,441 (GRCm39) |
|
probably benign |
Het |
| Zfp7 |
G |
A |
15: 76,775,422 (GRCm39) |
R488Q |
probably damaging |
Het |
|
| Other mutations in Tk1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02082:Tk1
|
APN |
11 |
117,716,553 (GRCm39) |
splice site |
probably null |
|
|
IGL02088:Tk1
|
APN |
11 |
117,715,491 (GRCm39) |
unclassified |
probably benign |
|
|
blowout
|
UTSW |
11 |
117,706,779 (GRCm39) |
makesense |
probably null |
|
|
sale
|
UTSW |
11 |
117,716,603 (GRCm39) |
start codon destroyed |
probably null |
0.01 |
|
tica
|
UTSW |
11 |
117,707,948 (GRCm39) |
unclassified |
probably benign |
|
|
tico
|
UTSW |
11 |
117,707,367 (GRCm39) |
missense |
probably damaging |
1.00 |
|
tock
|
UTSW |
11 |
117,707,320 (GRCm39) |
missense |
probably damaging |
1.00 |
|
twix
|
UTSW |
11 |
117,712,921 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0310:Tk1
|
UTSW |
11 |
117,707,921 (GRCm39) |
unclassified |
probably benign |
|
|
R0811:Tk1
|
UTSW |
11 |
117,712,933 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0812:Tk1
|
UTSW |
11 |
117,712,933 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1180:Tk1
|
UTSW |
11 |
117,712,921 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5160:Tk1
|
UTSW |
11 |
117,715,572 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R5846:Tk1
|
UTSW |
11 |
117,706,748 (GRCm39) |
unclassified |
probably benign |
|
|
R5886:Tk1
|
UTSW |
11 |
117,707,948 (GRCm39) |
unclassified |
probably benign |
|
|
R6862:Tk1
|
UTSW |
11 |
117,707,320 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7043:Tk1
|
UTSW |
11 |
117,706,779 (GRCm39) |
makesense |
probably null |
|
|
R7292:Tk1
|
UTSW |
11 |
117,716,603 (GRCm39) |
start codon destroyed |
probably null |
0.01 |
|
R9262:Tk1
|
UTSW |
11 |
117,716,581 (GRCm39) |
missense |
probably benign |
0.16 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTCAGAAGCCAGAGCCTAAG -3'
(R):5'- TAGCCTGAATCATGGGGTTTAAAAG -3'
Sequencing Primer
(F):5'- CCACTCCTTGGGCAGAAGTAAG -3'
(R):5'- CTCAAGCTGAAGCATGCTTG -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation