Incidental Mutation 'R5123:Tkt'
| ID |
393415 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tkt
|
| Ensembl Gene |
ENSMUSG00000021957 |
| Gene Name |
transketolase |
| Synonyms |
p68 |
| MMRRC Submission |
042711-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5123 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
30271088-30296681 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 30287603 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 199
(V199A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022529
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022529]
|
| AlphaFold |
P40142 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022529
AA Change: V199A
PolyPhen 2
Score 0.108 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000022529
Gene: ENSMUSG00000021957
AA Change: V199A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Transketolase_N
|
14 |
284 |
1.4e-46 |
PFAM |
|
Pfam:E1_dh
|
108 |
239 |
6.9e-11 |
PFAM |
|
Transket_pyr
|
315 |
479 |
1.52e-42 |
SMART |
|
Pfam:Transketolase_C
|
490 |
612 |
3.9e-35 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160189
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160406
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223633
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223717
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225039
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225857
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.5%
|
| Validation Efficiency |
98% (53/54) |
| MGI Phenotype |
FUNCTION: This gene encodes an enzyme that binds magnesium and thiamine pyrophosphate and catalyzes the transfer of sugar phosphates to an aldose acceptor. This enzyme is a key component of the pentose phosphate pathway during glycolysis. It is significantly expressed in the cornea and may be involved in the cellular response against oxidative stress. Haploinsufficiency of this gene leads to decreased growth and reduction of adipose tissue. [provided by RefSeq, Dec 2013]
PHENOTYPE: Homozygotes for a targeted null mutation die at or before the morula stage. Heterozygotes show reduced growth, decreased fat accumulation, microphthalmia, and reduced female fertility. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca3 |
G |
A |
17: 24,603,434 (GRCm39) |
G542D |
possibly damaging |
Het |
| Adh6b |
A |
G |
3: 138,063,450 (GRCm39) |
Y343C |
probably damaging |
Het |
| Adsl |
T |
A |
15: 80,836,495 (GRCm39) |
|
probably null |
Het |
| Apob |
T |
A |
12: 8,057,630 (GRCm39) |
|
probably null |
Het |
| Atp6ap1l |
T |
A |
13: 91,047,017 (GRCm39) |
|
probably benign |
Het |
| Cacnb3 |
A |
G |
15: 98,537,750 (GRCm39) |
D74G |
probably damaging |
Het |
| Cfap251 |
A |
G |
5: 123,411,696 (GRCm39) |
|
probably benign |
Het |
| Clca3a2 |
T |
A |
3: 144,512,104 (GRCm39) |
D544V |
probably damaging |
Het |
| Col3a1 |
G |
A |
1: 45,372,756 (GRCm39) |
|
probably benign |
Het |
| D7Ertd443e |
A |
G |
7: 133,951,397 (GRCm39) |
|
probably null |
Het |
| Dscam |
T |
C |
16: 96,573,637 (GRCm39) |
D775G |
probably damaging |
Het |
| Eif2b3 |
T |
A |
4: 116,879,408 (GRCm39) |
M16K |
probably damaging |
Het |
| Eml5 |
T |
C |
12: 98,840,771 (GRCm39) |
Y281C |
probably damaging |
Het |
| Epha2 |
T |
A |
4: 141,036,176 (GRCm39) |
L204Q |
possibly damaging |
Het |
| Filip1l |
A |
C |
16: 57,391,025 (GRCm39) |
I538L |
possibly damaging |
Het |
| Gcnt2 |
T |
A |
13: 41,071,831 (GRCm39) |
V158D |
probably damaging |
Het |
| Gnaq |
A |
G |
19: 16,309,449 (GRCm39) |
N162S |
probably benign |
Het |
| Haus5 |
A |
T |
7: 30,353,651 (GRCm39) |
N575K |
probably benign |
Het |
| Hjurp |
A |
T |
1: 88,202,772 (GRCm39) |
Y71N |
possibly damaging |
Het |
| Igsf5 |
A |
G |
16: 96,174,279 (GRCm39) |
D103G |
probably damaging |
Het |
| Myo10 |
A |
G |
15: 25,726,569 (GRCm39) |
D297G |
possibly damaging |
Het |
| Net1 |
C |
T |
13: 3,936,623 (GRCm39) |
R314H |
probably damaging |
Het |
| Or4b1c |
C |
A |
2: 90,126,512 (GRCm39) |
R231L |
probably benign |
Het |
| Or4k51 |
T |
A |
2: 111,584,897 (GRCm39) |
V101D |
probably damaging |
Het |
| Pcsk4 |
C |
A |
10: 80,157,979 (GRCm39) |
Q586H |
probably null |
Het |
| Pramel11 |
A |
T |
4: 143,623,706 (GRCm39) |
M156K |
probably benign |
Het |
| Prss1 |
A |
G |
6: 41,440,131 (GRCm39) |
D156G |
possibly damaging |
Het |
| Rnf133 |
A |
T |
6: 23,649,259 (GRCm39) |
N266K |
probably damaging |
Het |
| Setd2 |
G |
T |
9: 110,446,595 (GRCm39) |
A2482S |
possibly damaging |
Het |
| Sgo2a |
A |
T |
1: 58,055,726 (GRCm39) |
S637C |
probably damaging |
Het |
| Slc2a5 |
C |
A |
4: 150,224,262 (GRCm39) |
S290* |
probably null |
Het |
| Spata6 |
T |
G |
4: 111,625,992 (GRCm39) |
H120Q |
possibly damaging |
Het |
| Stk11 |
G |
A |
10: 79,963,775 (GRCm39) |
V194I |
probably damaging |
Het |
| Traf3 |
G |
A |
12: 111,209,952 (GRCm39) |
V183M |
possibly damaging |
Het |
| Trappc11 |
T |
C |
8: 47,966,437 (GRCm39) |
Y483C |
probably damaging |
Het |
| Trappc9 |
T |
C |
15: 72,785,215 (GRCm39) |
|
probably benign |
Het |
| Trim59 |
T |
C |
3: 68,945,067 (GRCm39) |
H91R |
probably benign |
Het |
| Ttc21a |
A |
G |
9: 119,781,278 (GRCm39) |
S484G |
probably benign |
Het |
| Usp13 |
A |
T |
3: 32,969,947 (GRCm39) |
H691L |
probably benign |
Het |
| Vmn1r238 |
T |
C |
18: 3,123,243 (GRCm39) |
Y57C |
probably benign |
Het |
| Vmn2r111 |
T |
A |
17: 22,790,124 (GRCm39) |
Q294L |
possibly damaging |
Het |
| Vmn2r17 |
A |
G |
5: 109,575,774 (GRCm39) |
D215G |
possibly damaging |
Het |
| Zfp280b |
A |
G |
10: 75,875,183 (GRCm39) |
D354G |
probably benign |
Het |
| Zfp607a |
A |
G |
7: 27,578,523 (GRCm39) |
H531R |
probably damaging |
Het |
| Zfp74 |
A |
T |
7: 29,634,158 (GRCm39) |
C517S |
probably damaging |
Het |
|
| Other mutations in Tkt |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00954:Tkt
|
APN |
14 |
30,291,052 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02122:Tkt
|
APN |
14 |
30,293,158 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02323:Tkt
|
APN |
14 |
30,292,992 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
IGL02326:Tkt
|
APN |
14 |
30,294,182 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02554:Tkt
|
APN |
14 |
30,280,737 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03145:Tkt
|
APN |
14 |
30,282,645 (GRCm39) |
splice site |
probably benign |
|
|
R0148:Tkt
|
UTSW |
14 |
30,294,177 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0732:Tkt
|
UTSW |
14 |
30,293,097 (GRCm39) |
splice site |
probably null |
|
|
R1550:Tkt
|
UTSW |
14 |
30,287,525 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2218:Tkt
|
UTSW |
14 |
30,289,018 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4464:Tkt
|
UTSW |
14 |
30,290,231 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R4771:Tkt
|
UTSW |
14 |
30,288,982 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4998:Tkt
|
UTSW |
14 |
30,287,499 (GRCm39) |
nonsense |
probably null |
|
|
R5240:Tkt
|
UTSW |
14 |
30,287,635 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5283:Tkt
|
UTSW |
14 |
30,282,575 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5777:Tkt
|
UTSW |
14 |
30,280,733 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R6051:Tkt
|
UTSW |
14 |
30,290,153 (GRCm39) |
missense |
probably benign |
0.27 |
|
R6517:Tkt
|
UTSW |
14 |
30,271,280 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6645:Tkt
|
UTSW |
14 |
30,292,168 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6722:Tkt
|
UTSW |
14 |
30,291,041 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7120:Tkt
|
UTSW |
14 |
30,281,779 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7179:Tkt
|
UTSW |
14 |
30,281,815 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7272:Tkt
|
UTSW |
14 |
30,287,564 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7274:Tkt
|
UTSW |
14 |
30,291,102 (GRCm39) |
splice site |
probably null |
|
|
R7402:Tkt
|
UTSW |
14 |
30,280,755 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7423:Tkt
|
UTSW |
14 |
30,292,992 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R7522:Tkt
|
UTSW |
14 |
30,290,180 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R7712:Tkt
|
UTSW |
14 |
30,280,763 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8975:Tkt
|
UTSW |
14 |
30,288,884 (GRCm39) |
intron |
probably benign |
|
|
R9487:Tkt
|
UTSW |
14 |
30,281,796 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9487:Tkt
|
UTSW |
14 |
30,281,795 (GRCm39) |
missense |
probably benign |
0.33 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTTTTGTTCACAGCTACCGAG -3'
(R):5'- ACATCAGGTCTCTAGGGGAG -3'
Sequencing Primer
(F):5'- ACAGCTACCGAGTCTATTGCATG -3'
(R):5'- TCTCTAGGGGAGGAAGCCTGTC -3'
|
| Posted On |
2016-06-15 |
Incidental Mutation