Incidental Mutation 'R0530:Tktl2'
ID |
49107 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tktl2
|
Ensembl Gene |
ENSMUSG00000025519 |
Gene Name |
transketolase-like 2 |
Synonyms |
4933401I19Rik |
MMRRC Submission |
038722-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.505)
|
Stock # |
R0530 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
66964408-66970987 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 66965831 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 463
(V463A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000138388
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002025]
[ENSMUST00000183187]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000002025
AA Change: V463A
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000002025 Gene: ENSMUSG00000025519 AA Change: V463A
Domain | Start | End | E-Value | Type |
Pfam:DXP_synthase_N
|
2 |
195 |
2.4e-9 |
PFAM |
Pfam:Transketolase_N
|
16 |
281 |
4.6e-50 |
PFAM |
Pfam:TPP_enzyme_C
|
108 |
250 |
5.9e-8 |
PFAM |
Pfam:E1_dh
|
111 |
249 |
2.9e-13 |
PFAM |
Transket_pyr
|
320 |
484 |
3.74e-51 |
SMART |
Pfam:Transketolase_C
|
495 |
617 |
1.4e-34 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000183187
AA Change: V463A
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000138388 Gene: ENSMUSG00000025519 AA Change: V463A
Domain | Start | End | E-Value | Type |
Pfam:DXP_synthase_N
|
2 |
197 |
8.2e-9 |
PFAM |
Pfam:Transketolase_N
|
16 |
280 |
2.2e-86 |
PFAM |
Pfam:TPP_enzyme_C
|
108 |
250 |
5.9e-8 |
PFAM |
Pfam:E1_dh
|
110 |
251 |
2.1e-14 |
PFAM |
Transket_pyr
|
320 |
484 |
3.74e-51 |
SMART |
Pfam:Transketolase_C
|
495 |
617 |
3.4e-30 |
PFAM |
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 99.6%
- 3x: 98.7%
- 10x: 96.6%
- 20x: 93.1%
|
Validation Efficiency |
96% (51/53) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcg3 |
A |
G |
5: 105,083,920 (GRCm39) |
W617R |
probably damaging |
Het |
Adam34l |
A |
T |
8: 44,079,568 (GRCm39) |
C219S |
probably benign |
Het |
Cep83 |
A |
T |
10: 94,555,450 (GRCm39) |
|
probably benign |
Het |
Ces1e |
G |
A |
8: 93,946,149 (GRCm39) |
|
probably benign |
Het |
Ckap2 |
A |
G |
8: 22,665,988 (GRCm39) |
|
probably benign |
Het |
Clip1 |
C |
A |
5: 123,778,594 (GRCm39) |
R443L |
probably damaging |
Het |
Clmp |
A |
G |
9: 40,672,302 (GRCm39) |
D44G |
probably benign |
Het |
Cntnap2 |
G |
A |
6: 46,506,839 (GRCm39) |
Q304* |
probably null |
Het |
Cst7 |
A |
T |
2: 150,412,435 (GRCm39) |
|
probably benign |
Het |
Dclk3 |
A |
T |
9: 111,311,789 (GRCm39) |
Y677F |
probably damaging |
Het |
Dlat |
G |
T |
9: 50,548,869 (GRCm39) |
N562K |
probably damaging |
Het |
Elmod1 |
A |
T |
9: 53,833,260 (GRCm39) |
Y182N |
probably damaging |
Het |
Fzd10 |
T |
C |
5: 128,679,077 (GRCm39) |
F266L |
probably damaging |
Het |
Gm8258 |
A |
G |
5: 104,923,952 (GRCm39) |
|
noncoding transcript |
Het |
Gm9742 |
T |
A |
13: 8,080,041 (GRCm39) |
|
noncoding transcript |
Het |
Hdlbp |
T |
C |
1: 93,358,039 (GRCm39) |
|
probably benign |
Het |
Itga8 |
A |
G |
2: 12,196,627 (GRCm39) |
S597P |
probably damaging |
Het |
Kndc1 |
A |
T |
7: 139,481,153 (GRCm39) |
I80F |
probably damaging |
Het |
Ktn1 |
A |
G |
14: 47,970,700 (GRCm39) |
N1192S |
probably benign |
Het |
Ldha |
G |
A |
7: 46,503,417 (GRCm39) |
V270M |
probably damaging |
Het |
Lyst |
T |
C |
13: 13,931,891 (GRCm39) |
|
probably benign |
Het |
Map3k9 |
A |
T |
12: 81,769,256 (GRCm39) |
F954I |
probably benign |
Het |
Mroh2b |
A |
G |
15: 4,963,877 (GRCm39) |
N823S |
probably damaging |
Het |
Mycbp2 |
A |
T |
14: 103,419,895 (GRCm39) |
N2480K |
probably damaging |
Het |
Nat1 |
A |
G |
8: 67,943,977 (GRCm39) |
K121E |
probably benign |
Het |
Neurl1b |
T |
A |
17: 26,660,519 (GRCm39) |
|
probably null |
Het |
Nnt |
C |
A |
13: 119,531,257 (GRCm39) |
L163F |
probably damaging |
Het |
Or10v5 |
A |
G |
19: 11,805,556 (GRCm39) |
V278A |
probably benign |
Het |
Otog |
A |
G |
7: 45,947,668 (GRCm39) |
T2274A |
probably damaging |
Het |
Pde4b |
G |
A |
4: 102,459,848 (GRCm39) |
R561Q |
probably damaging |
Het |
Pitpnm2 |
A |
G |
5: 124,269,264 (GRCm39) |
F453L |
probably damaging |
Het |
Pms1 |
T |
C |
1: 53,235,972 (GRCm39) |
|
probably null |
Het |
Pot1a |
A |
G |
6: 25,771,540 (GRCm39) |
V227A |
possibly damaging |
Het |
Prdx6b |
A |
G |
2: 80,123,659 (GRCm39) |
N156S |
probably damaging |
Het |
Ptpn9 |
A |
G |
9: 56,968,417 (GRCm39) |
S586G |
probably benign |
Het |
Serpina6 |
A |
T |
12: 103,618,053 (GRCm39) |
N253K |
probably damaging |
Het |
Slc12a2 |
T |
A |
18: 58,052,608 (GRCm39) |
V809D |
possibly damaging |
Het |
Slc2a8 |
C |
T |
2: 32,863,696 (GRCm39) |
A449T |
probably benign |
Het |
Slc6a6 |
A |
G |
6: 91,701,939 (GRCm39) |
I116V |
probably null |
Het |
Synj2 |
T |
A |
17: 6,058,380 (GRCm39) |
S58R |
possibly damaging |
Het |
Tafa3 |
T |
C |
3: 104,679,487 (GRCm39) |
|
probably benign |
Het |
Uchl5 |
T |
C |
1: 143,670,082 (GRCm39) |
V105A |
possibly damaging |
Het |
Usp9y |
T |
C |
Y: 1,333,600 (GRCm39) |
|
probably benign |
Het |
Vmn1r200 |
T |
C |
13: 22,579,667 (GRCm39) |
S148P |
probably damaging |
Het |
Vmn2r50 |
A |
T |
7: 9,781,644 (GRCm39) |
M367K |
possibly damaging |
Het |
Vps13a |
T |
C |
19: 16,632,570 (GRCm39) |
|
probably benign |
Het |
Wdr26 |
A |
T |
1: 181,013,635 (GRCm39) |
|
probably null |
Het |
Wdr87-ps |
A |
G |
7: 29,229,545 (GRCm39) |
|
noncoding transcript |
Het |
Ythdc2 |
T |
A |
18: 44,983,465 (GRCm39) |
M544K |
probably damaging |
Het |
Zpld2 |
A |
G |
4: 133,930,221 (GRCm39) |
I28T |
probably benign |
Het |
|
Other mutations in Tktl2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01351:Tktl2
|
APN |
8 |
66,965,548 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02444:Tktl2
|
APN |
8 |
66,966,013 (GRCm39) |
missense |
possibly damaging |
0.60 |
IGL02798:Tktl2
|
APN |
8 |
66,965,963 (GRCm39) |
missense |
probably benign |
0.06 |
IGL02938:Tktl2
|
APN |
8 |
66,964,982 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03095:Tktl2
|
APN |
8 |
66,964,936 (GRCm39) |
missense |
probably damaging |
1.00 |
R0899:Tktl2
|
UTSW |
8 |
66,964,999 (GRCm39) |
missense |
probably damaging |
0.98 |
R0900:Tktl2
|
UTSW |
8 |
66,964,999 (GRCm39) |
missense |
probably damaging |
0.98 |
R1080:Tktl2
|
UTSW |
8 |
66,964,999 (GRCm39) |
missense |
probably damaging |
0.98 |
R1419:Tktl2
|
UTSW |
8 |
66,965,690 (GRCm39) |
missense |
probably damaging |
0.97 |
R1609:Tktl2
|
UTSW |
8 |
66,965,504 (GRCm39) |
missense |
probably benign |
0.04 |
R1717:Tktl2
|
UTSW |
8 |
66,964,999 (GRCm39) |
missense |
probably damaging |
0.98 |
R1718:Tktl2
|
UTSW |
8 |
66,964,999 (GRCm39) |
missense |
probably damaging |
0.98 |
R1719:Tktl2
|
UTSW |
8 |
66,964,999 (GRCm39) |
missense |
probably damaging |
0.98 |
R1848:Tktl2
|
UTSW |
8 |
66,964,999 (GRCm39) |
missense |
probably damaging |
0.98 |
R1933:Tktl2
|
UTSW |
8 |
66,964,999 (GRCm39) |
missense |
probably damaging |
0.98 |
R1934:Tktl2
|
UTSW |
8 |
66,964,999 (GRCm39) |
missense |
probably damaging |
0.98 |
R2134:Tktl2
|
UTSW |
8 |
66,964,999 (GRCm39) |
missense |
probably damaging |
0.98 |
R2135:Tktl2
|
UTSW |
8 |
66,964,999 (GRCm39) |
missense |
probably damaging |
0.98 |
R2314:Tktl2
|
UTSW |
8 |
66,965,795 (GRCm39) |
missense |
probably damaging |
1.00 |
R2509:Tktl2
|
UTSW |
8 |
66,965,504 (GRCm39) |
missense |
probably benign |
0.04 |
R2511:Tktl2
|
UTSW |
8 |
66,965,504 (GRCm39) |
missense |
probably benign |
0.04 |
R2965:Tktl2
|
UTSW |
8 |
66,964,715 (GRCm39) |
missense |
probably benign |
0.01 |
R3084:Tktl2
|
UTSW |
8 |
66,965,858 (GRCm39) |
missense |
possibly damaging |
0.88 |
R3085:Tktl2
|
UTSW |
8 |
66,965,858 (GRCm39) |
missense |
possibly damaging |
0.88 |
R3121:Tktl2
|
UTSW |
8 |
66,964,808 (GRCm39) |
missense |
probably damaging |
0.98 |
R3499:Tktl2
|
UTSW |
8 |
66,965,897 (GRCm39) |
missense |
probably damaging |
0.97 |
R4227:Tktl2
|
UTSW |
8 |
66,966,351 (GRCm39) |
splice site |
probably null |
|
R4284:Tktl2
|
UTSW |
8 |
66,965,808 (GRCm39) |
missense |
probably damaging |
1.00 |
R4491:Tktl2
|
UTSW |
8 |
66,964,664 (GRCm39) |
missense |
probably damaging |
0.96 |
R5478:Tktl2
|
UTSW |
8 |
66,966,050 (GRCm39) |
missense |
probably damaging |
0.99 |
R5801:Tktl2
|
UTSW |
8 |
66,966,299 (GRCm39) |
missense |
probably benign |
0.00 |
R6656:Tktl2
|
UTSW |
8 |
66,965,381 (GRCm39) |
missense |
probably benign |
|
R6864:Tktl2
|
UTSW |
8 |
66,964,991 (GRCm39) |
missense |
probably damaging |
1.00 |
R6915:Tktl2
|
UTSW |
8 |
66,965,687 (GRCm39) |
missense |
probably damaging |
1.00 |
R7168:Tktl2
|
UTSW |
8 |
66,965,753 (GRCm39) |
missense |
probably damaging |
1.00 |
R7442:Tktl2
|
UTSW |
8 |
66,965,561 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7617:Tktl2
|
UTSW |
8 |
66,965,651 (GRCm39) |
missense |
probably benign |
0.07 |
R7687:Tktl2
|
UTSW |
8 |
66,965,753 (GRCm39) |
missense |
probably damaging |
1.00 |
R8825:Tktl2
|
UTSW |
8 |
66,966,319 (GRCm39) |
missense |
possibly damaging |
0.87 |
R9155:Tktl2
|
UTSW |
8 |
66,965,858 (GRCm39) |
missense |
possibly damaging |
0.88 |
R9176:Tktl2
|
UTSW |
8 |
66,964,664 (GRCm39) |
missense |
probably damaging |
0.96 |
R9352:Tktl2
|
UTSW |
8 |
66,965,974 (GRCm39) |
missense |
possibly damaging |
0.88 |
R9514:Tktl2
|
UTSW |
8 |
66,965,840 (GRCm39) |
missense |
probably damaging |
0.98 |
R9633:Tktl2
|
UTSW |
8 |
66,965,813 (GRCm39) |
missense |
probably benign |
0.25 |
RF006:Tktl2
|
UTSW |
8 |
66,965,504 (GRCm39) |
missense |
probably benign |
0.31 |
|
Predicted Primers |
PCR Primer
(F):5'- TGCCACACGAGGACGAACTATTG -3'
(R):5'- TTCATGCAGAGTAACCCCTGCTCC -3'
Sequencing Primer
(F):5'- CACGAGGACGAACTATTGCTTTC -3'
(R):5'- CCAATAACTGTCACCTTGTCG -3'
|
Posted On |
2013-06-12 |