Incidental Mutation 'R3749:Tpi1'
| ID |
310091 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tpi1
|
| Ensembl Gene |
ENSMUSG00000023456 |
| Gene Name |
triosephosphate isomerase 1 |
| Synonyms |
Tpi-1 |
| MMRRC Submission |
040734-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3749 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
124787549-124791121 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 124789754 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Cysteine
at position 130
(S130C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130858
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047510]
[ENSMUST00000047760]
[ENSMUST00000052727]
[ENSMUST00000112473]
[ENSMUST00000122110]
[ENSMUST00000130160]
[ENSMUST00000172132]
[ENSMUST00000149610]
[ENSMUST00000143040]
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000131805
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000172132
AA Change: S130C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000130858
Gene: ENSMUSG00000023456
AA Change: S130C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TIM
|
57 |
295 |
9.2e-86 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154883
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139716
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000149610
|
| SMART Domains |
Protein: ENSMUSP00000125292
Gene: ENSMUSG00000023456
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TIM
|
1 |
163 |
1.1e-65 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133251
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154189
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204602
|
| 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 |
|
| Meta Mutation Damage Score |
0.9596 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
98% (50/51) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam12 |
T |
C |
7: 133,774,594 (GRCm39) |
D5G |
probably damaging |
Het |
| Adam19 |
A |
T |
11: 46,028,437 (GRCm39) |
D690V |
probably benign |
Het |
| Ankib1 |
G |
T |
5: 3,784,097 (GRCm39) |
P293Q |
probably damaging |
Het |
| Arhgap19 |
T |
A |
19: 41,762,518 (GRCm39) |
E461V |
probably damaging |
Het |
| Bckdk |
C |
A |
7: 127,504,590 (GRCm39) |
R105S |
probably damaging |
Het |
| Bub1b |
T |
A |
2: 118,445,936 (GRCm39) |
N319K |
possibly damaging |
Het |
| Ccdc40 |
T |
C |
11: 119,155,252 (GRCm39) |
V1164A |
probably benign |
Het |
| Cfhr1 |
C |
A |
1: 139,485,372 (GRCm39) |
|
probably null |
Het |
| Colq |
A |
T |
14: 31,271,410 (GRCm39) |
|
probably benign |
Het |
| Daam1 |
C |
A |
12: 72,017,940 (GRCm39) |
D716E |
probably damaging |
Het |
| Dnah17 |
T |
C |
11: 117,973,742 (GRCm39) |
S1935G |
probably benign |
Het |
| Dnah8 |
A |
T |
17: 31,003,148 (GRCm39) |
K3616* |
probably null |
Het |
| Faap24 |
A |
T |
7: 35,092,437 (GRCm39) |
V160D |
possibly damaging |
Het |
| Gpc1 |
C |
A |
1: 92,785,304 (GRCm39) |
C414* |
probably null |
Het |
| Igkv9-120 |
G |
A |
6: 68,026,985 (GRCm39) |
A7T |
probably benign |
Het |
| Kcnu1 |
T |
A |
8: 26,376,798 (GRCm39) |
C391S |
probably null |
Het |
| Lrba |
T |
G |
3: 86,283,260 (GRCm39) |
L1858R |
probably damaging |
Het |
| Lrp10 |
A |
T |
14: 54,706,723 (GRCm39) |
N520I |
possibly damaging |
Het |
| Marchf6 |
A |
G |
15: 31,462,160 (GRCm39) |
V856A |
probably benign |
Het |
| Mfsd1 |
T |
C |
3: 67,490,286 (GRCm39) |
S46P |
probably benign |
Het |
| Mme |
T |
A |
3: 63,250,961 (GRCm39) |
V334E |
probably damaging |
Het |
| Mroh2b |
G |
A |
15: 4,981,728 (GRCm39) |
W1513* |
probably null |
Het |
| Nuf2 |
T |
A |
1: 169,352,945 (GRCm39) |
N20I |
probably damaging |
Het |
| Obsl1 |
T |
C |
1: 75,474,890 (GRCm39) |
T642A |
probably benign |
Het |
| Olfm1 |
C |
T |
2: 28,098,100 (GRCm39) |
T54I |
probably damaging |
Het |
| Or10c1 |
G |
A |
17: 37,522,691 (GRCm39) |
R18C |
possibly damaging |
Het |
| Or6c3b |
C |
T |
10: 129,527,830 (GRCm39) |
V27I |
probably benign |
Het |
| Osbpl7 |
T |
C |
11: 96,946,879 (GRCm39) |
V223A |
probably damaging |
Het |
| Patj |
A |
G |
4: 98,357,837 (GRCm39) |
Y701C |
probably damaging |
Het |
| Pkdrej |
T |
A |
15: 85,705,278 (GRCm39) |
K219N |
probably damaging |
Het |
| Scn2a |
T |
G |
2: 65,544,115 (GRCm39) |
V832G |
probably damaging |
Het |
| Secisbp2l |
C |
T |
2: 125,582,657 (GRCm39) |
G933D |
possibly damaging |
Het |
| Slc25a25 |
G |
T |
2: 32,310,392 (GRCm39) |
N122K |
probably benign |
Het |
| Slk |
T |
G |
19: 47,608,248 (GRCm39) |
D400E |
possibly damaging |
Het |
| Spon1 |
T |
C |
7: 113,365,621 (GRCm39) |
L19P |
probably damaging |
Het |
| Spon1 |
T |
A |
7: 113,616,024 (GRCm39) |
V297E |
possibly damaging |
Het |
| Supt16 |
A |
G |
14: 52,417,596 (GRCm39) |
L306P |
probably damaging |
Het |
| Syne1 |
C |
T |
10: 5,002,267 (GRCm39) |
|
probably benign |
Het |
| Tas2r136 |
A |
T |
6: 132,754,200 (GRCm39) |
F309Y |
probably damaging |
Het |
| Terb1 |
T |
C |
8: 105,223,466 (GRCm39) |
D114G |
probably damaging |
Het |
| Tlr5 |
T |
C |
1: 182,802,004 (GRCm39) |
I436T |
probably benign |
Het |
| Tpcn2 |
T |
C |
7: 144,809,260 (GRCm39) |
H682R |
probably damaging |
Het |
| Ttn |
G |
A |
2: 76,584,350 (GRCm39) |
H22253Y |
probably damaging |
Het |
| Uggt2 |
A |
T |
14: 119,295,084 (GRCm39) |
V38E |
probably benign |
Het |
| Vmn1r158 |
A |
C |
7: 22,489,639 (GRCm39) |
L190W |
probably damaging |
Het |
| Vwa5b2 |
A |
G |
16: 20,417,076 (GRCm39) |
|
probably benign |
Het |
| Wnt2 |
T |
C |
6: 18,023,167 (GRCm39) |
I161V |
probably benign |
Het |
| Zdhhc25 |
C |
T |
15: 88,485,226 (GRCm39) |
S187L |
probably benign |
Het |
| Zfhx4 |
G |
A |
3: 5,308,225 (GRCm39) |
E484K |
possibly damaging |
Het |
| Zkscan1 |
T |
C |
5: 138,099,703 (GRCm39) |
S476P |
probably damaging |
Het |
| Zmynd8 |
A |
G |
2: 165,647,118 (GRCm39) |
Y945H |
probably damaging |
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 |
|
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 |
|
R9175:Tpi1
|
UTSW |
6 |
124,788,871 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9242:Tpi1
|
UTSW |
6 |
124,791,138 (GRCm39) |
missense |
probably benign |
0.37 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCTCATCTGATTCTCCAAAGACATG -3'
(R):5'- TGGGCTCTGTAGTGGACAAAG -3'
Sequencing Primer
(F):5'- AAGACATGTCTTCTTTCTGAGTGC -3'
(R):5'- GACAAAGGTCAACTTTCTGGACTG -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation