Incidental Mutation 'IGL02798:Tktl2'
ID |
360052 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Tktl2
|
Ensembl Gene |
ENSMUSG00000025519 |
Gene Name |
transketolase-like 2 |
Synonyms |
4933401I19Rik |
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.505)
|
Stock # |
IGL02798
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
66964408-66970987 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 66965963 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Arginine
at position 507
(K507R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000138388
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002025]
[ENSMUST00000183187]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000002025
AA Change: K507R
PolyPhen 2
Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000002025 Gene: ENSMUSG00000025519 AA Change: K507R
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 benign
Transcript: ENSMUST00000183187
AA Change: K507R
PolyPhen 2
Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000138388 Gene: ENSMUSG00000025519 AA Change: K507R
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 |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam2 |
A |
T |
14: 66,277,724 (GRCm39) |
C514S |
probably damaging |
Het |
Alcam |
A |
G |
16: 52,126,002 (GRCm39) |
I105T |
probably damaging |
Het |
Arhgef10l |
A |
T |
4: 140,292,441 (GRCm39) |
|
probably null |
Het |
Arhgef17 |
A |
G |
7: 100,578,833 (GRCm39) |
V705A |
probably benign |
Het |
C87436 |
T |
A |
6: 86,423,184 (GRCm39) |
C253S |
probably benign |
Het |
Cbx7 |
T |
C |
15: 79,802,600 (GRCm39) |
T226A |
probably damaging |
Het |
Cdh20 |
T |
C |
1: 104,875,190 (GRCm39) |
I324T |
probably damaging |
Het |
Celsr3 |
A |
T |
9: 108,720,774 (GRCm39) |
H2608L |
probably damaging |
Het |
Cramp1 |
A |
G |
17: 25,187,894 (GRCm39) |
|
probably benign |
Het |
Ddx25 |
A |
G |
9: 35,462,693 (GRCm39) |
C231R |
probably damaging |
Het |
Emilin2 |
A |
G |
17: 71,563,690 (GRCm39) |
|
probably benign |
Het |
Hip1r |
T |
C |
5: 124,132,775 (GRCm39) |
|
probably benign |
Het |
Insrr |
C |
T |
3: 87,717,824 (GRCm39) |
P842S |
probably damaging |
Het |
Lama1 |
G |
T |
17: 68,102,186 (GRCm39) |
|
probably benign |
Het |
Lig3 |
T |
C |
11: 82,686,531 (GRCm39) |
|
probably benign |
Het |
Lrp4 |
C |
A |
2: 91,307,055 (GRCm39) |
T392K |
probably benign |
Het |
Msl2 |
G |
T |
9: 100,957,430 (GRCm39) |
R33S |
probably benign |
Het |
Nrde2 |
T |
A |
12: 100,110,081 (GRCm39) |
K317* |
probably null |
Het |
Nub1 |
C |
A |
5: 24,897,812 (GRCm39) |
A42D |
probably damaging |
Het |
Obox2 |
T |
C |
7: 15,130,807 (GRCm39) |
V13A |
possibly damaging |
Het |
Or13p3 |
T |
C |
4: 118,566,696 (GRCm39) |
F31L |
probably damaging |
Het |
Or4k5 |
T |
A |
14: 50,385,835 (GRCm39) |
K165N |
probably benign |
Het |
Or5ac20 |
A |
T |
16: 59,104,478 (GRCm39) |
C127* |
probably null |
Het |
Phkb |
T |
C |
8: 86,770,406 (GRCm39) |
Y892H |
probably benign |
Het |
Ptdss1 |
A |
G |
13: 67,124,824 (GRCm39) |
Y341C |
probably damaging |
Het |
Ripor2 |
A |
T |
13: 24,858,649 (GRCm39) |
D147V |
probably damaging |
Het |
Scn7a |
T |
C |
2: 66,544,219 (GRCm39) |
D424G |
probably benign |
Het |
Scn9a |
C |
T |
2: 66,370,903 (GRCm39) |
R559Q |
possibly damaging |
Het |
Sctr |
G |
A |
1: 119,949,910 (GRCm39) |
C33Y |
probably damaging |
Het |
Sh2b2 |
G |
T |
5: 136,250,817 (GRCm39) |
A419E |
probably damaging |
Het |
Slc22a30 |
A |
T |
19: 8,347,449 (GRCm39) |
M317K |
probably damaging |
Het |
Slc39a4 |
T |
C |
15: 76,499,382 (GRCm39) |
S178G |
probably benign |
Het |
Slc7a12 |
T |
A |
3: 14,546,217 (GRCm39) |
C121S |
probably damaging |
Het |
Slmap |
T |
C |
14: 26,191,533 (GRCm39) |
S148G |
possibly damaging |
Het |
Tent5a |
A |
T |
9: 85,206,937 (GRCm39) |
V287E |
probably damaging |
Het |
Ttn |
T |
G |
2: 76,586,207 (GRCm39) |
K21841N |
probably damaging |
Het |
Ugcg |
T |
C |
4: 59,220,346 (GRCm39) |
Y380H |
probably damaging |
Het |
Zfp106 |
T |
C |
2: 120,340,991 (GRCm39) |
T1840A |
probably damaging |
Het |
Zmynd8 |
T |
C |
2: 165,694,070 (GRCm39) |
|
probably null |
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 |
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 |
|
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 |
|
Posted On |
2015-12-18 |