Incidental Mutation 'R1609:Tktl2'
| ID |
176677 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tktl2
|
| Ensembl Gene |
ENSMUSG00000025519 |
| Gene Name |
transketolase-like 2 |
| Synonyms |
4933401I19Rik |
| MMRRC Submission |
039646-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.487)
|
| Stock # |
R1609 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
66964408-66970987 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 66965504 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 354
(E354G)
|
| 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: E354G
PolyPhen 2
Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000002025
Gene: ENSMUSG00000025519
AA Change: E354G
| 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: E354G
PolyPhen 2
Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000138388
Gene: ENSMUSG00000025519
AA Change: E354G
| 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 |
0.1016 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.0%
- 10x: 95.1%
- 20x: 88.1%
|
| Validation Efficiency |
96% (49/51) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot2 |
C |
T |
12: 84,039,630 (GRCm39) |
R380C |
possibly damaging |
Het |
| Allc |
A |
T |
12: 28,603,993 (GRCm39) |
D363E |
probably damaging |
Het |
| Anxa2 |
TCCC |
TCC |
9: 69,397,036 (GRCm39) |
|
probably null |
Het |
| App |
C |
A |
16: 84,876,837 (GRCm39) |
V185L |
probably damaging |
Het |
| Atp5if1 |
T |
C |
4: 132,258,078 (GRCm39) |
D47G |
probably benign |
Het |
| Auh |
G |
A |
13: 52,989,532 (GRCm39) |
P308L |
probably benign |
Het |
| Cbr4 |
T |
A |
8: 61,956,192 (GRCm39) |
Y220N |
probably damaging |
Het |
| Ccdc6 |
C |
A |
10: 70,002,877 (GRCm39) |
Q203K |
probably damaging |
Het |
| Cntnap2 |
T |
C |
6: 45,992,264 (GRCm39) |
V397A |
probably benign |
Het |
| Dmxl2 |
A |
G |
9: 54,316,547 (GRCm39) |
I1613T |
possibly damaging |
Het |
| Dnah14 |
T |
C |
1: 181,577,742 (GRCm39) |
S3020P |
probably damaging |
Het |
| Dnah7b |
T |
C |
1: 46,392,126 (GRCm39) |
L3829P |
probably damaging |
Het |
| Fbxw25 |
C |
T |
9: 109,492,578 (GRCm39) |
C53Y |
probably benign |
Het |
| Fndc1 |
G |
T |
17: 7,991,598 (GRCm39) |
H699Q |
unknown |
Het |
| Gnaq |
G |
A |
19: 16,360,618 (GRCm39) |
V314M |
possibly damaging |
Het |
| Gpr158 |
A |
G |
2: 21,788,104 (GRCm39) |
T582A |
possibly damaging |
Het |
| Mapk1 |
T |
C |
16: 16,856,170 (GRCm39) |
|
probably benign |
Het |
| Med1 |
T |
A |
11: 98,051,996 (GRCm39) |
H456L |
possibly damaging |
Het |
| Myo6 |
G |
A |
9: 80,195,499 (GRCm39) |
|
probably null |
Het |
| Nipbl |
A |
G |
15: 8,396,148 (GRCm39) |
Y142H |
probably damaging |
Het |
| Or4c113 |
A |
T |
2: 88,885,688 (GRCm39) |
F27L |
probably benign |
Het |
| Or8k24 |
A |
G |
2: 86,215,838 (GRCm39) |
I308T |
probably benign |
Het |
| Or8k33 |
A |
C |
2: 86,383,949 (GRCm39) |
V173G |
probably damaging |
Het |
| Pgbd5 |
T |
C |
8: 125,160,750 (GRCm39) |
D39G |
probably benign |
Het |
| Pnisr |
G |
T |
4: 21,871,440 (GRCm39) |
G387* |
probably null |
Het |
| Pnpla6 |
T |
C |
8: 3,567,135 (GRCm39) |
L61P |
probably damaging |
Het |
| Prkra |
A |
T |
2: 76,463,936 (GRCm39) |
I242N |
probably benign |
Het |
| Rp1 |
A |
G |
1: 4,419,424 (GRCm39) |
S563P |
probably damaging |
Het |
| Rtp3 |
A |
G |
9: 110,815,085 (GRCm39) |
|
probably benign |
Het |
| Sema3d |
A |
G |
5: 12,591,023 (GRCm39) |
T301A |
probably damaging |
Het |
| Setmar |
A |
G |
6: 108,053,076 (GRCm39) |
D190G |
probably benign |
Het |
| Sf3b2 |
A |
G |
19: 5,345,061 (GRCm39) |
|
probably benign |
Het |
| Taf4b |
A |
G |
18: 14,968,938 (GRCm39) |
K692E |
probably damaging |
Het |
| Tspan4 |
A |
G |
7: 141,071,557 (GRCm39) |
T135A |
probably damaging |
Het |
| Vmn1r22 |
G |
T |
6: 57,877,733 (GRCm39) |
Y81* |
probably null |
Het |
| Vmn2r31 |
T |
C |
7: 7,387,888 (GRCm39) |
E561G |
probably damaging |
Het |
| Xrn1 |
A |
T |
9: 95,856,946 (GRCm39) |
K389N |
probably benign |
Het |
| Zfp277 |
A |
T |
12: 40,378,719 (GRCm39) |
N379K |
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 |
|
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'- AATAAGCCTACTGCCCTGATTGCC -3'
(R):5'- AGGTCCGTCTTCTCCAACAGACAC -3'
Sequencing Primer
(F):5'- ACCTTCAAGGGTAGAGGTATTCC -3'
(R):5'- CCGCAGTGGGAACCAAC -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation