Incidental Mutation 'R5478:Tktl2'
ID |
434164 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tktl2
|
Ensembl Gene |
ENSMUSG00000025519 |
Gene Name |
transketolase-like 2 |
Synonyms |
4933401I19Rik |
MMRRC Submission |
043039-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.505)
|
Stock # |
R5478 (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 66966050 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 536
(V536A)
|
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: V536A
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000002025 Gene: ENSMUSG00000025519 AA Change: V536A
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: V536A
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000138388 Gene: ENSMUSG00000025519 AA Change: V536A
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 |
0.8158 |
Coding Region Coverage |
- 1x: 98.4%
- 3x: 97.4%
- 10x: 95.4%
- 20x: 91.6%
|
Validation Efficiency |
98% (63/64) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc2 |
T |
C |
19: 43,827,904 (GRCm39) |
|
probably benign |
Het |
Adamts2 |
T |
C |
11: 50,683,478 (GRCm39) |
V920A |
possibly damaging |
Het |
Alpk1 |
A |
G |
3: 127,471,368 (GRCm39) |
V1038A |
probably damaging |
Het |
Amotl1 |
A |
G |
9: 14,504,048 (GRCm39) |
|
probably null |
Het |
Apba2 |
T |
A |
7: 64,344,934 (GRCm39) |
Y41* |
probably null |
Het |
BC048562 |
G |
A |
9: 108,322,363 (GRCm39) |
|
probably benign |
Het |
Braf |
A |
G |
6: 39,654,508 (GRCm39) |
L86P |
possibly damaging |
Het |
Capn3 |
A |
G |
2: 120,294,666 (GRCm39) |
|
probably null |
Het |
Carmil1 |
T |
C |
13: 24,296,028 (GRCm39) |
D371G |
probably damaging |
Het |
Cdhr4 |
G |
A |
9: 107,872,790 (GRCm39) |
V280I |
possibly damaging |
Het |
Cdkl2 |
T |
A |
5: 92,187,108 (GRCm39) |
K53* |
probably null |
Het |
Chl1 |
A |
T |
6: 103,660,182 (GRCm39) |
E353D |
probably damaging |
Het |
Col4a2 |
T |
A |
8: 11,448,697 (GRCm39) |
N72K |
probably benign |
Het |
Comtd1 |
A |
T |
14: 21,898,981 (GRCm39) |
|
probably benign |
Het |
Ctsm |
A |
T |
13: 61,685,543 (GRCm39) |
S290T |
probably benign |
Het |
Defa35 |
A |
T |
8: 21,555,836 (GRCm39) |
Y65F |
probably benign |
Het |
Dock8 |
T |
A |
19: 25,057,186 (GRCm39) |
C198S |
probably benign |
Het |
Epha3 |
A |
C |
16: 63,403,896 (GRCm39) |
M734R |
probably damaging |
Het |
Fastkd2 |
T |
C |
1: 63,778,345 (GRCm39) |
I406T |
probably benign |
Het |
Fshr |
C |
T |
17: 89,309,143 (GRCm39) |
V222I |
probably benign |
Het |
Gm16686 |
A |
T |
4: 88,673,714 (GRCm39) |
|
probably benign |
Het |
Gm4922 |
T |
C |
10: 18,659,885 (GRCm39) |
E279G |
probably benign |
Het |
Gm5709 |
A |
T |
3: 59,543,095 (GRCm39) |
|
noncoding transcript |
Het |
Grin3a |
C |
A |
4: 49,792,481 (GRCm39) |
M417I |
probably benign |
Het |
Hnf4a |
A |
T |
2: 163,410,926 (GRCm39) |
M408L |
probably benign |
Het |
Idh1 |
A |
T |
1: 65,200,997 (GRCm39) |
M318K |
probably benign |
Het |
Krt222 |
A |
G |
11: 99,125,774 (GRCm39) |
S286P |
probably damaging |
Het |
Mmrn2 |
A |
T |
14: 34,118,539 (GRCm39) |
T142S |
probably benign |
Het |
Myocd |
G |
T |
11: 65,123,914 (GRCm39) |
|
probably null |
Het |
Ncam2 |
C |
T |
16: 81,231,766 (GRCm39) |
R77* |
probably null |
Het |
Or52ab7 |
T |
C |
7: 102,978,032 (GRCm39) |
L113P |
probably damaging |
Het |
Or5h17 |
A |
T |
16: 58,820,425 (GRCm39) |
I126L |
possibly damaging |
Het |
Pcdhgc4 |
C |
T |
18: 37,950,375 (GRCm39) |
T597M |
probably damaging |
Het |
Pdrg1 |
A |
G |
2: 152,857,152 (GRCm39) |
|
probably benign |
Het |
Per2 |
T |
A |
1: 91,360,590 (GRCm39) |
I521F |
probably benign |
Het |
Pkhd1 |
G |
A |
1: 20,271,380 (GRCm39) |
L3058F |
probably damaging |
Het |
Plaat5 |
A |
C |
19: 7,592,036 (GRCm39) |
|
probably benign |
Het |
Pnliprp1 |
A |
T |
19: 58,723,423 (GRCm39) |
|
probably null |
Het |
Ppargc1b |
T |
A |
18: 61,440,639 (GRCm39) |
M744L |
probably benign |
Het |
Prpf18 |
A |
T |
2: 4,643,705 (GRCm39) |
N155K |
probably benign |
Het |
Pum1 |
T |
A |
4: 130,478,795 (GRCm39) |
N472K |
possibly damaging |
Het |
Reln |
A |
T |
5: 22,209,201 (GRCm39) |
S1126T |
probably benign |
Het |
Rnase11 |
A |
G |
14: 51,287,332 (GRCm39) |
L74P |
probably damaging |
Het |
Slc25a23 |
T |
A |
17: 57,359,780 (GRCm39) |
I324F |
probably damaging |
Het |
Slc26a10 |
C |
A |
10: 127,009,818 (GRCm39) |
R576L |
probably benign |
Het |
Slc4a1 |
T |
A |
11: 102,241,140 (GRCm39) |
E921D |
probably damaging |
Het |
Slc9c1 |
A |
T |
16: 45,374,609 (GRCm39) |
M296L |
probably damaging |
Het |
Sos1 |
T |
C |
17: 80,741,276 (GRCm39) |
D503G |
probably damaging |
Het |
Srpk2 |
G |
A |
5: 23,729,181 (GRCm39) |
T486I |
possibly damaging |
Het |
Sult6b1 |
A |
T |
17: 79,202,101 (GRCm39) |
|
probably null |
Het |
Tbc1d16 |
T |
C |
11: 119,045,917 (GRCm39) |
E509G |
probably benign |
Het |
Ugt2b36 |
A |
T |
5: 87,237,341 (GRCm39) |
V188D |
probably damaging |
Het |
Veph1 |
T |
C |
3: 66,162,443 (GRCm39) |
T72A |
probably damaging |
Het |
Vmn2r73 |
A |
T |
7: 85,518,996 (GRCm39) |
I542N |
probably damaging |
Het |
Vps13d |
G |
A |
4: 144,894,120 (GRCm39) |
P480S |
probably damaging |
Het |
Zfp319 |
A |
G |
8: 96,052,193 (GRCm39) |
|
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 |
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 |
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'- AACACGAAGGGAATGTGCTTC -3'
(R):5'- CGCTTCGAGGTACTTCTGTTAC -3'
Sequencing Primer
(F):5'- AATGTGCTTCATTCGTACCACTCG -3'
(R):5'- CTGCAAGTTGACGAACGACTATGTC -3'
|
Posted On |
2016-10-06 |