Incidental Mutation 'R8433:Tpx2'
| ID |
653846 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tpx2
|
| Ensembl Gene |
ENSMUSG00000027469 |
| Gene Name |
TPX2, microtubule-associated |
| Synonyms |
2610005B21Rik, p100, DIL2, REPP86 |
| MMRRC Submission |
067823-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8433 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
152689884-152737241 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 152722056 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 216
(E216G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028969
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028969]
[ENSMUST00000109816]
[ENSMUST00000164120]
[ENSMUST00000178997]
|
| AlphaFold |
A2APB8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000028969
AA Change: E216G
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000028969
Gene: ENSMUSG00000027469
AA Change: E216G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aurora-A_bind
|
1 |
68 |
7.4e-39 |
PFAM |
|
coiled coil region
|
213 |
242 |
N/A |
INTRINSIC |
|
Pfam:TPX2_importin
|
360 |
541 |
1e-62 |
PFAM |
|
low complexity region
|
608 |
619 |
N/A |
INTRINSIC |
|
Pfam:TPX2
|
661 |
717 |
6.3e-19 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000109816
AA Change: E216G
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000105441
Gene: ENSMUSG00000027469
AA Change: E216G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aurora-A_bind
|
1 |
68 |
7.4e-39 |
PFAM |
|
coiled coil region
|
213 |
242 |
N/A |
INTRINSIC |
|
Pfam:TPX2_importin
|
360 |
541 |
1e-62 |
PFAM |
|
low complexity region
|
608 |
619 |
N/A |
INTRINSIC |
|
Pfam:TPX2
|
661 |
717 |
6.3e-19 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000164120
AA Change: E216G
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000128888
Gene: ENSMUSG00000027469
AA Change: E216G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aurora-A_bind
|
1 |
68 |
5.2e-40 |
PFAM |
|
coiled coil region
|
213 |
242 |
N/A |
INTRINSIC |
|
Pfam:TPX2_importin
|
362 |
489 |
2.7e-35 |
PFAM |
|
low complexity region
|
608 |
619 |
N/A |
INTRINSIC |
|
Pfam:TPX2
|
661 |
717 |
7.5e-15 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000178997
AA Change: E216G
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000136457
Gene: ENSMUSG00000027469
AA Change: E216G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aurora-A_bind
|
1 |
68 |
5.2e-40 |
PFAM |
|
coiled coil region
|
213 |
242 |
N/A |
INTRINSIC |
|
Pfam:TPX2_importin
|
362 |
489 |
2.7e-35 |
PFAM |
|
low complexity region
|
608 |
619 |
N/A |
INTRINSIC |
|
Pfam:TPX2
|
661 |
717 |
7.5e-15 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a gene trap allele exhibit embryonic arrest at the morula stage, embryonic lethality and tetraploidy of cultured E1.5 embryos. Mice heterozygous for the gene trap allele exhibit aneuploidy and increased tumor incidence. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Armh1 |
A |
G |
4: 117,085,535 (GRCm39) |
V227A |
probably benign |
Het |
| Cfhr1 |
A |
T |
1: 139,485,276 (GRCm39) |
Y57N |
probably damaging |
Het |
| Chtf18 |
A |
G |
17: 25,945,918 (GRCm39) |
S90P |
probably benign |
Het |
| Eral1 |
A |
G |
11: 77,966,309 (GRCm39) |
S290P |
probably benign |
Het |
| Foxk1 |
T |
C |
5: 142,434,539 (GRCm39) |
F268L |
probably benign |
Het |
| Gsta3 |
A |
G |
1: 21,335,172 (GRCm39) |
K218E |
probably benign |
Het |
| Mapk8ip2 |
G |
A |
15: 89,342,069 (GRCm39) |
A427T |
probably benign |
Het |
| Mtch2 |
T |
A |
2: 90,677,505 (GRCm39) |
|
probably benign |
Het |
| Ndufc1 |
A |
G |
3: 51,316,311 (GRCm39) |
L14P |
probably damaging |
Het |
| Or55b4 |
A |
T |
7: 102,133,991 (GRCm39) |
I112N |
probably benign |
Het |
| Or56a3b |
T |
C |
7: 104,770,931 (GRCm39) |
F89S |
probably damaging |
Het |
| Or8k53 |
G |
A |
2: 86,177,144 (GRCm39) |
P322L |
unknown |
Het |
| Parn |
C |
A |
16: 13,485,413 (GRCm39) |
D28Y |
probably damaging |
Het |
| Phldb1 |
C |
T |
9: 44,627,759 (GRCm39) |
G229R |
probably damaging |
Het |
| Prpf3 |
A |
G |
3: 95,758,963 (GRCm39) |
V63A |
probably damaging |
Het |
| Ptger3 |
A |
C |
3: 157,349,592 (GRCm39) |
*363C |
probably null |
Het |
| Rnf6 |
A |
G |
5: 146,148,088 (GRCm39) |
V310A |
probably damaging |
Het |
| Scarf1 |
G |
A |
11: 75,411,858 (GRCm39) |
|
probably null |
Het |
| Slc5a6 |
G |
A |
5: 31,194,806 (GRCm39) |
A530V |
possibly damaging |
Het |
| Sorcs3 |
C |
T |
19: 48,194,913 (GRCm39) |
R99W |
possibly damaging |
Het |
| Svop |
A |
G |
5: 114,170,822 (GRCm39) |
C406R |
probably benign |
Het |
| Tnn |
G |
A |
1: 159,924,790 (GRCm39) |
S1452L |
possibly damaging |
Het |
| Trim39 |
A |
G |
17: 36,571,597 (GRCm39) |
V387A |
possibly damaging |
Het |
| Unc80 |
A |
T |
1: 66,677,187 (GRCm39) |
K2039* |
probably null |
Het |
| Vps13a |
A |
T |
19: 16,718,600 (GRCm39) |
L464I |
possibly damaging |
Het |
| Wdr35 |
G |
A |
12: 9,058,495 (GRCm39) |
D562N |
probably damaging |
Het |
| Zfp541 |
C |
T |
7: 15,805,999 (GRCm39) |
L45F |
probably benign |
Het |
| Zfp764l1 |
C |
T |
7: 126,992,496 (GRCm39) |
C38Y |
probably null |
Het |
| Zswim5 |
A |
G |
4: 116,844,007 (GRCm39) |
Y1015C |
possibly damaging |
Het |
|
| Other mutations in Tpx2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01348:Tpx2
|
APN |
2 |
152,735,511 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01810:Tpx2
|
APN |
2 |
152,726,155 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01951:Tpx2
|
APN |
2 |
152,726,096 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02184:Tpx2
|
APN |
2 |
152,724,240 (GRCm39) |
nonsense |
probably null |
|
|
IGL02422:Tpx2
|
APN |
2 |
152,715,064 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02441:Tpx2
|
APN |
2 |
152,724,207 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7952_Tpx2_601
|
UTSW |
2 |
152,735,514 (GRCm39) |
missense |
probably damaging |
1.00 |
|
reddened
|
UTSW |
2 |
152,711,644 (GRCm39) |
missense |
probably benign |
0.00 |
|
Shamed
|
UTSW |
2 |
152,715,024 (GRCm39) |
missense |
probably benign |
|
|
R0063:Tpx2
|
UTSW |
2 |
152,722,043 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0076:Tpx2
|
UTSW |
2 |
152,735,603 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0271:Tpx2
|
UTSW |
2 |
152,709,287 (GRCm39) |
splice site |
probably benign |
|
|
R0311:Tpx2
|
UTSW |
2 |
152,732,412 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0617:Tpx2
|
UTSW |
2 |
152,715,058 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1871:Tpx2
|
UTSW |
2 |
152,735,523 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1882:Tpx2
|
UTSW |
2 |
152,711,611 (GRCm39) |
missense |
probably benign |
|
|
R1990:Tpx2
|
UTSW |
2 |
152,732,544 (GRCm39) |
missense |
probably benign |
|
|
R1991:Tpx2
|
UTSW |
2 |
152,732,544 (GRCm39) |
missense |
probably benign |
|
|
R1992:Tpx2
|
UTSW |
2 |
152,732,544 (GRCm39) |
missense |
probably benign |
|
|
R4686:Tpx2
|
UTSW |
2 |
152,731,103 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R4712:Tpx2
|
UTSW |
2 |
152,726,958 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4792:Tpx2
|
UTSW |
2 |
152,727,016 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4873:Tpx2
|
UTSW |
2 |
152,735,535 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4875:Tpx2
|
UTSW |
2 |
152,735,535 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4991:Tpx2
|
UTSW |
2 |
152,711,644 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5178:Tpx2
|
UTSW |
2 |
152,717,469 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5757:Tpx2
|
UTSW |
2 |
152,727,151 (GRCm39) |
splice site |
probably null |
|
|
R6158:Tpx2
|
UTSW |
2 |
152,715,024 (GRCm39) |
missense |
probably benign |
|
|
R6225:Tpx2
|
UTSW |
2 |
152,718,548 (GRCm39) |
missense |
probably benign |
|
|
R6539:Tpx2
|
UTSW |
2 |
152,718,518 (GRCm39) |
nonsense |
probably null |
|
|
R6633:Tpx2
|
UTSW |
2 |
152,709,274 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7358:Tpx2
|
UTSW |
2 |
152,718,550 (GRCm39) |
missense |
probably benign |
|
|
R7741:Tpx2
|
UTSW |
2 |
152,709,263 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R7952:Tpx2
|
UTSW |
2 |
152,735,514 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8888:Tpx2
|
UTSW |
2 |
152,724,255 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8895:Tpx2
|
UTSW |
2 |
152,724,255 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8920:Tpx2
|
UTSW |
2 |
152,726,214 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9191:Tpx2
|
UTSW |
2 |
152,727,124 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R9267:Tpx2
|
UTSW |
2 |
152,732,517 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9486:Tpx2
|
UTSW |
2 |
152,726,933 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9610:Tpx2
|
UTSW |
2 |
152,715,124 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9611:Tpx2
|
UTSW |
2 |
152,715,124 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9679:Tpx2
|
UTSW |
2 |
152,711,618 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R9722:Tpx2
|
UTSW |
2 |
152,733,476 (GRCm39) |
critical splice donor site |
probably null |
|
|
X0023:Tpx2
|
UTSW |
2 |
152,726,948 (GRCm39) |
missense |
probably benign |
0.05 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCCAATAACTGTTTCTGGTGG -3'
(R):5'- GTTGTATGTGGACCACTCAAACTGG -3'
Sequencing Primer
(F):5'- CCAATAACTGTTTCTGGTGGATAAAC -3'
(R):5'- CACCGTTGTCGTTAAGAC -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation