Incidental Mutation 'R4284:Tktl2'
ID |
321998 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tktl2
|
Ensembl Gene |
ENSMUSG00000025519 |
Gene Name |
transketolase-like 2 |
Synonyms |
4933401I19Rik |
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.487)
|
Stock # |
R4284 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
66964408-66970987 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 66965808 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 455
(D455E)
|
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: D455E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000002025 Gene: ENSMUSG00000025519 AA Change: D455E
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: D455E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000138388 Gene: ENSMUSG00000025519 AA Change: D455E
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 |
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.7%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Agl |
G |
A |
3: 116,545,827 (GRCm39) |
S1323L |
possibly damaging |
Het |
Capg |
T |
C |
6: 72,538,082 (GRCm39) |
Y323H |
probably damaging |
Het |
Cdh23 |
T |
C |
10: 60,139,272 (GRCm39) |
T3314A |
possibly damaging |
Het |
Cilp |
A |
T |
9: 65,185,560 (GRCm39) |
T552S |
probably damaging |
Het |
Cox16 |
T |
C |
12: 81,521,293 (GRCm39) |
|
probably null |
Het |
Ctu2 |
G |
A |
8: 123,204,978 (GRCm39) |
V88I |
probably benign |
Het |
Elfn1 |
A |
T |
5: 139,958,069 (GRCm39) |
K358* |
probably null |
Het |
Enpp6 |
T |
C |
8: 47,522,050 (GRCm39) |
F328S |
probably damaging |
Het |
Galnt12 |
T |
C |
4: 47,104,231 (GRCm39) |
L163P |
probably damaging |
Het |
Gcfc2 |
G |
A |
6: 81,918,372 (GRCm39) |
R354H |
probably damaging |
Het |
Hcn1 |
ACAGCAGCAGCAGCAGCAGCAGCAACAGCAACAACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC |
ACAGCAGCAGCAGCAGCAGCAACAGCAACAACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC |
13: 118,112,269 (GRCm39) |
|
probably benign |
Het |
Ikbke |
C |
T |
1: 131,203,515 (GRCm39) |
|
probably null |
Het |
Il1rn |
T |
C |
2: 24,239,557 (GRCm39) |
L151P |
probably damaging |
Het |
Jmjd6 |
T |
C |
11: 116,733,534 (GRCm39) |
R48G |
probably damaging |
Het |
Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
Lilra6 |
T |
C |
7: 3,911,803 (GRCm39) |
H285R |
possibly damaging |
Het |
Lrp2 |
G |
A |
2: 69,310,438 (GRCm39) |
R2712C |
possibly damaging |
Het |
Magi3 |
C |
A |
3: 103,923,184 (GRCm39) |
G1178* |
probably null |
Het |
Memo1 |
T |
C |
17: 74,562,293 (GRCm39) |
|
probably null |
Het |
Mug2 |
T |
A |
6: 122,040,632 (GRCm39) |
D727E |
probably benign |
Het |
Relch |
A |
G |
1: 105,649,012 (GRCm39) |
D717G |
probably damaging |
Het |
Sema3c |
A |
G |
5: 17,883,345 (GRCm39) |
T318A |
probably benign |
Het |
Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
Slc20a2 |
G |
A |
8: 23,051,365 (GRCm39) |
R466Q |
probably benign |
Het |
Slc25a51 |
C |
T |
4: 45,399,768 (GRCm39) |
V141M |
probably benign |
Het |
Sox5 |
T |
C |
6: 143,781,055 (GRCm39) |
K570E |
probably damaging |
Het |
Ssbp1 |
T |
G |
6: 40,454,851 (GRCm39) |
|
probably null |
Het |
Sult5a1 |
A |
G |
8: 123,875,969 (GRCm39) |
S116P |
probably damaging |
Het |
Tm9sf1 |
T |
C |
14: 55,878,780 (GRCm39) |
Y204C |
probably damaging |
Het |
Tmem161a |
A |
G |
8: 70,630,076 (GRCm39) |
|
probably benign |
Het |
Ttn |
T |
A |
2: 76,623,211 (GRCm39) |
K13663* |
probably null |
Het |
Unc5c |
T |
C |
3: 141,420,435 (GRCm39) |
I52T |
probably damaging |
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 |
R0530:Tktl2
|
UTSW |
8 |
66,965,831 (GRCm39) |
missense |
probably damaging |
0.99 |
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 |
|
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'- ACCCGAGCCTTTGATCAGATC -3'
(R):5'- ATCCCTTGTTGAGAAAGCTCC -3'
Sequencing Primer
(F):5'- CGAGCCTTTGATCAGATCCGAATG -3'
(R):5'- TCAGCAGCTACTAAGGCTTCATG -3'
|
Posted On |
2015-06-20 |