Incidental Mutation 'R6656:Tktl2'
ID |
526624 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tktl2
|
Ensembl Gene |
ENSMUSG00000025519 |
Gene Name |
transketolase-like 2 |
Synonyms |
4933401I19Rik |
MMRRC Submission |
044777-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.505)
|
Stock # |
R6656 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
66964408-66970987 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 66965381 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 313
(V313A)
|
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: V313A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000002025 Gene: ENSMUSG00000025519 AA Change: V313A
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: V313A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000138388 Gene: ENSMUSG00000025519 AA Change: V313A
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 |
0.0846 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.8%
|
Validation Efficiency |
97% (35/36) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ahctf1 |
T |
C |
1: 179,581,078 (GRCm39) |
N1708S |
probably benign |
Het |
Ahnak2 |
C |
T |
12: 112,748,991 (GRCm39) |
M285I |
probably benign |
Het |
Angptl1 |
A |
T |
1: 156,684,806 (GRCm39) |
D325V |
probably damaging |
Het |
Anln |
A |
T |
9: 22,262,298 (GRCm39) |
V931E |
probably damaging |
Het |
Ascc3 |
C |
T |
10: 50,526,021 (GRCm39) |
R578* |
probably null |
Het |
B3galnt2 |
C |
T |
13: 14,150,161 (GRCm39) |
A168V |
probably benign |
Het |
Bhlhe40 |
TG |
TGG |
6: 108,641,818 (GRCm39) |
254 |
probably null |
Het |
Cd22 |
T |
C |
7: 30,577,182 (GRCm39) |
I42V |
probably benign |
Het |
Cyp2b19 |
C |
T |
7: 26,466,280 (GRCm39) |
T361I |
probably benign |
Het |
D930048N14Rik |
C |
A |
11: 51,544,576 (GRCm39) |
|
probably benign |
Het |
Ehf |
T |
C |
2: 103,113,928 (GRCm39) |
N23S |
probably damaging |
Het |
Eif2ak3 |
T |
A |
6: 70,860,699 (GRCm39) |
I425N |
probably damaging |
Het |
Fbxo4 |
C |
T |
15: 4,005,305 (GRCm39) |
V192M |
probably damaging |
Het |
Gm21190 |
T |
C |
5: 15,730,849 (GRCm39) |
Q169R |
possibly damaging |
Het |
Gngt1 |
A |
G |
6: 3,994,246 (GRCm39) |
D8G |
possibly damaging |
Het |
Ift140 |
T |
C |
17: 25,251,147 (GRCm39) |
L31P |
probably damaging |
Het |
Keg1 |
C |
T |
19: 12,686,994 (GRCm39) |
Q8* |
probably null |
Het |
Lama3 |
T |
A |
18: 12,682,283 (GRCm39) |
M1083K |
possibly damaging |
Het |
Lrp1b |
A |
T |
2: 40,527,876 (GRCm39) |
Y68* |
probably null |
Het |
Lyz3 |
A |
G |
10: 117,071,534 (GRCm39) |
V115A |
probably benign |
Het |
Mctp1 |
A |
T |
13: 77,178,055 (GRCm39) |
K947N |
probably damaging |
Het |
Muc5ac |
A |
G |
7: 141,357,065 (GRCm39) |
Y1113C |
probably damaging |
Het |
Myb |
C |
T |
10: 21,028,844 (GRCm39) |
V85M |
probably damaging |
Het |
Npas2 |
T |
G |
1: 39,401,029 (GRCm39) |
S798A |
unknown |
Het |
Or13a21 |
G |
T |
7: 139,999,517 (GRCm39) |
H56Q |
probably damaging |
Het |
Orc2 |
A |
G |
1: 58,532,818 (GRCm39) |
|
probably null |
Het |
Parpbp |
T |
C |
10: 87,946,175 (GRCm39) |
T415A |
probably benign |
Het |
Pcdha3 |
T |
C |
18: 37,080,875 (GRCm39) |
V539A |
probably benign |
Het |
Piwil4 |
T |
C |
9: 14,621,230 (GRCm39) |
E601G |
probably damaging |
Het |
Pramel51 |
A |
T |
12: 88,142,763 (GRCm39) |
L285Q |
possibly damaging |
Het |
Ptpn3 |
T |
A |
4: 57,205,905 (GRCm39) |
I696F |
probably damaging |
Het |
Sec63 |
C |
T |
10: 42,692,379 (GRCm39) |
Q617* |
probably null |
Het |
Sgip1 |
C |
A |
4: 102,762,765 (GRCm39) |
|
probably benign |
Het |
Sirpd |
T |
C |
3: 15,385,558 (GRCm39) |
T115A |
probably damaging |
Het |
Tmem63b |
C |
A |
17: 45,978,634 (GRCm39) |
R325L |
probably benign |
Het |
Ttn |
C |
T |
2: 76,539,700 (GRCm39) |
G34429R |
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 |
|
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 |
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'- ACTGCCCTGATTGCCAAGAC -3'
(R):5'- TGTTTTGCTCAGCGATAAAGC -3'
Sequencing Primer
(F):5'- ACCTTCAAGGGTAGAGGTATTCC -3'
(R):5'- CACTCTATGAAACGCTCAGGGTG -3'
|
Posted On |
2018-07-23 |