Incidental Mutation 'R9175:Tpi1'
| ID |
696617 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tpi1
|
| Ensembl Gene |
ENSMUSG00000023456 |
| Gene Name |
triosephosphate isomerase 1 |
| Synonyms |
Tpi-1 |
| MMRRC Submission |
068948-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9175 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
124787549-124791121 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 124788871 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 223
(T223A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130858
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047510]
[ENSMUST00000047760]
[ENSMUST00000052727]
[ENSMUST00000112473]
[ENSMUST00000122110]
[ENSMUST00000130160]
[ENSMUST00000143040]
[ENSMUST00000172132]
[ENSMUST00000149610]
|
| AlphaFold |
P17751 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000047510
|
| SMART Domains |
Protein: ENSMUSP00000041299
Gene: ENSMUSG00000038429
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
11 |
N/A |
INTRINSIC |
|
Blast:ZnF_UBP
|
29 |
78 |
4e-19 |
BLAST |
|
ZnF_UBP
|
198 |
253 |
6.47e-27 |
SMART |
|
low complexity region
|
497 |
516 |
N/A |
INTRINSIC |
|
UBA
|
656 |
694 |
3.12e-7 |
SMART |
|
UBA
|
724 |
761 |
8.63e-10 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000047760
|
| SMART Domains |
Protein: ENSMUSP00000041585
Gene: ENSMUSG00000038451
| Domain | Start | End | E-Value | Type |
|---|
|
SPRY
|
86 |
220 |
9.85e-28 |
SMART |
|
SOCS
|
219 |
264 |
7.93e-13 |
SMART |
|
SOCS_box
|
225 |
264 |
8.27e-12 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000052727
|
| SMART Domains |
Protein: ENSMUSP00000060124
Gene: ENSMUSG00000038451
| Domain | Start | End | E-Value | Type |
|---|
|
SPRY
|
86 |
220 |
9.85e-28 |
SMART |
|
SOCS
|
219 |
264 |
7.93e-13 |
SMART |
|
SOCS_box
|
225 |
264 |
8.27e-12 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112473
|
| SMART Domains |
Protein: ENSMUSP00000108092
Gene: ENSMUSG00000038451
| Domain | Start | End | E-Value | Type |
|---|
|
SPRY
|
86 |
220 |
9.85e-28 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000122110
|
| SMART Domains |
Protein: ENSMUSP00000114000
Gene: ENSMUSG00000038429
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
11 |
N/A |
INTRINSIC |
|
Blast:ZnF_UBP
|
29 |
78 |
4e-19 |
BLAST |
|
ZnF_UBP
|
198 |
253 |
6.47e-27 |
SMART |
|
low complexity region
|
497 |
516 |
N/A |
INTRINSIC |
|
UBA
|
633 |
671 |
3.12e-7 |
SMART |
|
UBA
|
701 |
738 |
8.63e-10 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000130160
|
| SMART Domains |
Protein: ENSMUSP00000122149
Gene: ENSMUSG00000038451
| Domain | Start | End | E-Value | Type |
|---|
|
SPRY
|
86 |
208 |
1.1e-22 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000143040
|
| SMART Domains |
Protein: ENSMUSP00000118347
Gene: ENSMUSG00000038451
| Domain | Start | End | E-Value | Type |
|---|
|
SPRY
|
86 |
220 |
9.85e-28 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000172132
AA Change: T223A
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000130858
Gene: ENSMUSG00000023456
AA Change: T223A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TIM
|
57 |
295 |
9.2e-86 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000149610
AA Change: T91A
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000125292
Gene: ENSMUSG00000023456
AA Change: T91A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TIM
|
1 |
163 |
1.1e-65 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an enzyme, consisting of two identical proteins, which catalyzes the isomerization of glyceraldehydes 3-phosphate (G3P) and dihydroxy-acetone phosphate (DHAP) in glycolysis and gluconeogenesis. Mutations in this gene are associated with triosephosphate isomerase deficiency. Pseudogenes have been identified on chromosomes 1, 4, 6 and 7. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2009]
PHENOTYPE: Homozygous null mutants die at postimplantation stage. Heterozygotes are normal, but with 50% of normal enzyme activity. Mice heterozygous or homozygous for a hyperactivity allele are otherwise normal. Mice homozygous for a chemically induced allele exhibit symptoms of hemolytic anemia. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2900092C05Rik |
G |
A |
7: 12,249,412 (GRCm39) |
D82N |
probably benign |
Het |
| Abca13 |
A |
G |
11: 9,531,593 (GRCm39) |
K4607E |
probably damaging |
Het |
| Agpat4 |
G |
C |
17: 12,417,669 (GRCm39) |
G70A |
probably damaging |
Het |
| Ank2 |
G |
A |
3: 126,722,402 (GRCm39) |
T1017I |
possibly damaging |
Het |
| C2cd2 |
T |
C |
16: 97,678,421 (GRCm39) |
I339V |
probably benign |
Het |
| Cacna1a |
A |
T |
8: 85,296,644 (GRCm39) |
N1221Y |
probably damaging |
Het |
| Cacna1e |
A |
G |
1: 154,274,314 (GRCm39) |
V2197A |
probably damaging |
Het |
| Ccdc74a |
T |
C |
16: 17,468,042 (GRCm39) |
S101P |
probably benign |
Het |
| Cdh13 |
A |
T |
8: 119,968,968 (GRCm39) |
I442F |
probably damaging |
Het |
| Cnot2 |
A |
T |
10: 116,334,051 (GRCm39) |
M373K |
possibly damaging |
Het |
| Coch |
C |
A |
12: 51,645,060 (GRCm39) |
H205N |
possibly damaging |
Het |
| Col6a4 |
A |
G |
9: 105,957,560 (GRCm39) |
V88A |
probably benign |
Het |
| Erich3 |
A |
G |
3: 154,419,601 (GRCm39) |
T35A |
probably benign |
Het |
| Gm28360 |
A |
T |
1: 117,781,328 (GRCm39) |
K106N |
possibly damaging |
Het |
| Hps4 |
G |
A |
5: 112,525,905 (GRCm39) |
S642N |
possibly damaging |
Het |
| Hspg2 |
T |
C |
4: 137,256,657 (GRCm39) |
F1467L |
probably damaging |
Het |
| Ighg2c |
T |
C |
12: 113,252,499 (GRCm39) |
T18A |
|
Het |
| Iqcm |
A |
G |
8: 76,710,867 (GRCm39) |
K472E |
possibly damaging |
Het |
| Kcnk5 |
A |
T |
14: 20,192,117 (GRCm39) |
V348D |
probably benign |
Het |
| Kcns3 |
C |
T |
12: 11,169,801 (GRCm39) |
|
probably benign |
Het |
| Klk15 |
C |
T |
7: 43,587,790 (GRCm39) |
H73Y |
possibly damaging |
Het |
| Muc5ac |
A |
G |
7: 141,366,093 (GRCm39) |
D2787G |
possibly damaging |
Het |
| Nasp |
A |
G |
4: 116,471,576 (GRCm39) |
C84R |
probably damaging |
Het |
| Nfia |
G |
A |
4: 97,671,362 (GRCm39) |
R24H |
probably damaging |
Het |
| Opa3 |
C |
T |
7: 18,989,466 (GRCm39) |
R110C |
probably damaging |
Het |
| Or2t48 |
T |
C |
11: 58,420,590 (GRCm39) |
D74G |
probably damaging |
Het |
| Or8k25 |
A |
G |
2: 86,244,099 (GRCm39) |
I99T |
probably benign |
Het |
| Pdia4 |
A |
C |
6: 47,775,417 (GRCm39) |
S464R |
possibly damaging |
Het |
| Rab3gap2 |
A |
G |
1: 185,009,360 (GRCm39) |
D1092G |
probably damaging |
Het |
| Rev3l |
A |
G |
10: 39,730,764 (GRCm39) |
K2763E |
possibly damaging |
Het |
| Sanbr |
A |
T |
11: 23,534,518 (GRCm39) |
|
probably null |
Het |
| Sorbs1 |
A |
T |
19: 40,315,018 (GRCm39) |
L598Q |
probably damaging |
Het |
| Sppl2b |
A |
T |
10: 80,698,807 (GRCm39) |
M154L |
probably benign |
Het |
| Stk33 |
A |
G |
7: 108,920,724 (GRCm39) |
I331T |
probably damaging |
Het |
| Strip2 |
A |
G |
6: 29,933,035 (GRCm39) |
E494G |
probably benign |
Het |
| Supt6 |
C |
T |
11: 78,112,052 (GRCm39) |
R1010Q |
possibly damaging |
Het |
| Tada1 |
G |
A |
1: 166,210,005 (GRCm39) |
R69H |
probably damaging |
Het |
| Tent4a |
A |
G |
13: 69,663,915 (GRCm39) |
L268P |
probably damaging |
Het |
| Tmco1 |
C |
T |
1: 167,136,132 (GRCm39) |
|
probably benign |
Het |
| Tomm34 |
A |
G |
2: 163,912,385 (GRCm39) |
|
probably null |
Het |
| Trpc3 |
T |
A |
3: 36,709,279 (GRCm39) |
N399I |
probably benign |
Het |
| Vgll2 |
A |
G |
10: 51,903,635 (GRCm39) |
H166R |
probably damaging |
Het |
| Vmn2r107 |
A |
T |
17: 20,577,051 (GRCm39) |
I350F |
possibly damaging |
Het |
| Vmn2r114 |
T |
A |
17: 23,527,212 (GRCm39) |
K440M |
probably damaging |
Het |
| Vmn2r55 |
T |
C |
7: 12,385,793 (GRCm39) |
Y729C |
possibly damaging |
Het |
| Zfp106 |
G |
T |
2: 120,353,197 (GRCm39) |
A1554E |
probably damaging |
Het |
| Zfyve27 |
A |
G |
19: 42,169,997 (GRCm39) |
Y176C |
probably damaging |
Het |
| Zswim5 |
T |
A |
4: 116,822,941 (GRCm39) |
N470K |
probably benign |
Het |
|
| Other mutations in Tpi1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01931:Tpi1
|
APN |
6 |
124,789,603 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL02268:Tpi1
|
APN |
6 |
124,791,087 (GRCm39) |
missense |
probably benign |
0.22 |
|
R0448:Tpi1
|
UTSW |
6 |
124,791,066 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1649:Tpi1
|
UTSW |
6 |
124,789,891 (GRCm39) |
splice site |
probably null |
|
|
R1838:Tpi1
|
UTSW |
6 |
124,791,115 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3749:Tpi1
|
UTSW |
6 |
124,789,754 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4793:Tpi1
|
UTSW |
6 |
124,789,544 (GRCm39) |
intron |
probably benign |
|
|
R6855:Tpi1
|
UTSW |
6 |
124,789,426 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7250:Tpi1
|
UTSW |
6 |
124,789,441 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7634:Tpi1
|
UTSW |
6 |
124,789,817 (GRCm39) |
nonsense |
probably null |
|
|
R8791:Tpi1
|
UTSW |
6 |
124,789,483 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9165:Tpi1
|
UTSW |
6 |
124,788,501 (GRCm39) |
missense |
probably benign |
0.13 |
|
R9242:Tpi1
|
UTSW |
6 |
124,791,138 (GRCm39) |
missense |
probably benign |
0.37 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGAGTTTCCAGAAAAGCCCCG -3'
(R):5'- CGCACAAGTTGTTTCTAAAAGGG -3'
Sequencing Primer
(F):5'- AGTGGCAAGGCTCCAATC -3'
(R):5'- CACAAGTTGTTTCTAAAAGGGGGAAG -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation