Incidental Mutation 'R1419:Tktl2'
ID |
159991 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tktl2
|
Ensembl Gene |
ENSMUSG00000025519 |
Gene Name |
transketolase-like 2 |
Synonyms |
4933401I19Rik |
MMRRC Submission |
039475-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.487)
|
Stock # |
R1419 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
66964408-66970987 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 66965690 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 416
(N416S)
|
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: N416S
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000002025 Gene: ENSMUSG00000025519 AA Change: N416S
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: N416S
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000138388 Gene: ENSMUSG00000025519 AA Change: N416S
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: 98.9%
- 3x: 98.0%
- 10x: 95.5%
- 20x: 90.1%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca15 |
T |
A |
7: 119,974,125 (GRCm39) |
M894K |
probably benign |
Het |
Ablim1 |
C |
A |
19: 57,123,065 (GRCm39) |
C173F |
probably damaging |
Het |
Abtb2 |
G |
T |
2: 103,539,765 (GRCm39) |
R710L |
probably benign |
Het |
Arap3 |
T |
C |
18: 38,111,485 (GRCm39) |
T1144A |
possibly damaging |
Het |
Arhgef12 |
A |
T |
9: 42,938,516 (GRCm39) |
V92D |
probably damaging |
Het |
Ash1l |
T |
G |
3: 88,892,204 (GRCm39) |
M1361R |
probably damaging |
Het |
Atm |
A |
C |
9: 53,368,789 (GRCm39) |
N2337K |
probably benign |
Het |
Cog7 |
T |
C |
7: 121,555,215 (GRCm39) |
E316G |
probably damaging |
Het |
Dsp |
A |
G |
13: 38,370,671 (GRCm39) |
Y858C |
probably damaging |
Het |
Enc1 |
G |
T |
13: 97,382,692 (GRCm39) |
G401C |
probably damaging |
Het |
Gata6 |
T |
C |
18: 11,064,706 (GRCm39) |
V506A |
probably benign |
Het |
Gm16380 |
C |
T |
9: 53,791,471 (GRCm39) |
|
noncoding transcript |
Het |
Hsd17b8 |
G |
A |
17: 34,246,617 (GRCm39) |
R89C |
probably benign |
Het |
Hsh2d |
G |
A |
8: 72,954,304 (GRCm39) |
D229N |
probably benign |
Het |
Ift80 |
T |
A |
3: 68,847,531 (GRCm39) |
N322Y |
probably damaging |
Het |
Igsf9 |
T |
A |
1: 172,325,578 (GRCm39) |
V1082E |
probably damaging |
Het |
Katnal2 |
A |
T |
18: 77,065,128 (GRCm39) |
L481Q |
possibly damaging |
Het |
Kcnma1 |
T |
C |
14: 23,417,710 (GRCm39) |
T713A |
probably damaging |
Het |
Kif13a |
T |
C |
13: 46,978,711 (GRCm39) |
T230A |
probably damaging |
Het |
Klhl14 |
C |
A |
18: 21,785,250 (GRCm39) |
R59L |
probably damaging |
Het |
Mecom |
A |
G |
3: 30,035,038 (GRCm39) |
C213R |
probably damaging |
Het |
Mrpl13 |
T |
A |
15: 55,397,717 (GRCm39) |
M178L |
probably benign |
Het |
Myof |
T |
C |
19: 37,890,359 (GRCm39) |
E1971G |
probably damaging |
Het |
Naa10 |
A |
G |
X: 72,961,522 (GRCm39) |
V133A |
probably damaging |
Het |
Nlrp4g |
G |
A |
9: 124,349,434 (GRCm38) |
|
noncoding transcript |
Het |
Ofcc1 |
C |
T |
13: 40,362,305 (GRCm39) |
G206R |
probably benign |
Het |
Oplah |
T |
C |
15: 76,182,120 (GRCm39) |
I1047V |
probably benign |
Het |
Or4a15 |
T |
C |
2: 89,193,666 (GRCm39) |
T36A |
probably damaging |
Het |
Or4k47 |
A |
T |
2: 111,451,640 (GRCm39) |
F260I |
probably benign |
Het |
Or5al1 |
A |
G |
2: 85,989,773 (GRCm39) |
*314Q |
probably null |
Het |
Paip1 |
A |
G |
13: 119,593,553 (GRCm39) |
D189G |
probably damaging |
Het |
Pkn1 |
A |
G |
8: 84,400,151 (GRCm39) |
F624L |
probably damaging |
Het |
Plxnb1 |
C |
A |
9: 108,943,454 (GRCm39) |
P1899H |
probably damaging |
Het |
Rpa3 |
T |
A |
6: 8,257,720 (GRCm39) |
E47D |
probably benign |
Het |
Shoc1 |
T |
C |
4: 59,064,457 (GRCm39) |
T826A |
possibly damaging |
Het |
Snai2 |
C |
T |
16: 14,526,044 (GRCm39) |
H232Y |
possibly damaging |
Het |
Spint5 |
T |
C |
2: 164,557,331 (GRCm39) |
S23P |
possibly damaging |
Het |
St8sia2 |
G |
A |
7: 73,616,742 (GRCm39) |
Q78* |
probably null |
Het |
Tm7sf3 |
T |
A |
6: 146,505,475 (GRCm39) |
I494F |
possibly damaging |
Het |
Trf |
C |
T |
9: 103,103,307 (GRCm39) |
V119M |
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 |
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'- TTCAAGAAAGAGCACCCTGAGCG -3'
(R):5'- ACCTTGGCCTGTCCAATCACAAAG -3'
Sequencing Primer
(F):5'- ACCCTGAGCGTTTCATAGAG -3'
(R):5'- TGGTACGAATGAAGCACATTCC -3'
|
Posted On |
2014-03-14 |