Incidental Mutation 'R0271:Tpx2'
| ID |
35284 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tpx2
|
| Ensembl Gene |
ENSMUSG00000027469 |
| Gene Name |
TPX2, microtubule-associated |
| Synonyms |
2610005B21Rik, p100, DIL2, REPP86 |
| MMRRC Submission |
038497-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0271 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
152689884-152737241 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 152709287 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136457
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028969]
[ENSMUST00000109816]
[ENSMUST00000164120]
[ENSMUST00000178997]
|
| AlphaFold |
A2APB8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028969
|
| SMART Domains |
Protein: ENSMUSP00000028969
Gene: ENSMUSG00000027469
| 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 benign
Transcript: ENSMUST00000109816
|
| SMART Domains |
Protein: ENSMUSP00000105441
Gene: ENSMUSG00000027469
| 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 |
noncoding transcript
Transcript: ENSMUST00000144848
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164120
|
| SMART Domains |
Protein: ENSMUSP00000128888
Gene: ENSMUSG00000027469
| 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 |
noncoding transcript
Transcript: ENSMUST00000175928
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000178997
|
| SMART Domains |
Protein: ENSMUSP00000136457
Gene: ENSMUSG00000027469
| 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: 98.5%
- 3x: 97.4%
- 10x: 95.2%
- 20x: 90.6%
|
| Validation Efficiency |
100% (65/65) |
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930544D05Rik |
A |
G |
11: 70,507,474 (GRCm39) |
Q173R |
possibly damaging |
Het |
| Ampd2 |
C |
T |
3: 107,994,032 (GRCm39) |
|
probably benign |
Het |
| Ankrd17 |
T |
C |
5: 90,402,658 (GRCm39) |
S1467G |
possibly damaging |
Het |
| Arhgap31 |
T |
G |
16: 38,422,872 (GRCm39) |
S1065R |
possibly damaging |
Het |
| Arhgef19 |
G |
T |
4: 140,977,918 (GRCm39) |
M542I |
probably benign |
Het |
| C7 |
T |
C |
15: 5,044,862 (GRCm39) |
D392G |
possibly damaging |
Het |
| Ccdc138 |
G |
A |
10: 58,411,645 (GRCm39) |
C671Y |
probably damaging |
Het |
| Cdh8 |
A |
G |
8: 99,838,347 (GRCm39) |
S498P |
possibly damaging |
Het |
| Cpb2 |
T |
A |
14: 75,495,149 (GRCm39) |
|
probably null |
Het |
| Cwc22 |
A |
C |
2: 77,751,202 (GRCm39) |
N389K |
probably benign |
Het |
| Dgkb |
T |
A |
12: 38,278,025 (GRCm39) |
L550Q |
probably damaging |
Het |
| Dip2c |
A |
G |
13: 9,665,811 (GRCm39) |
R950G |
probably damaging |
Het |
| Eml6 |
A |
G |
11: 29,798,949 (GRCm39) |
V437A |
possibly damaging |
Het |
| Fanca |
T |
C |
8: 123,999,180 (GRCm39) |
|
probably benign |
Het |
| Fgd2 |
C |
G |
17: 29,585,982 (GRCm39) |
L189V |
possibly damaging |
Het |
| Foxred2 |
A |
C |
15: 77,827,590 (GRCm39) |
S590A |
possibly damaging |
Het |
| Gm1110 |
A |
G |
9: 26,831,962 (GRCm39) |
F63S |
probably damaging |
Het |
| Gm14496 |
A |
T |
2: 181,637,747 (GRCm39) |
M274L |
probably benign |
Het |
| Gm7008 |
T |
A |
12: 40,273,559 (GRCm39) |
|
probably benign |
Het |
| Gm9922 |
T |
A |
14: 101,966,989 (GRCm39) |
|
probably benign |
Het |
| Gtf3c3 |
A |
T |
1: 54,467,971 (GRCm39) |
M222K |
possibly damaging |
Het |
| Hspa1b |
A |
G |
17: 35,177,808 (GRCm39) |
V59A |
probably benign |
Het |
| Impg1 |
T |
C |
9: 80,294,161 (GRCm39) |
|
probably benign |
Het |
| Khdc4 |
T |
C |
3: 88,593,636 (GRCm39) |
|
probably benign |
Het |
| Lpcat4 |
T |
A |
2: 112,073,590 (GRCm39) |
|
probably null |
Het |
| Mipol1 |
T |
C |
12: 57,507,740 (GRCm39) |
|
probably benign |
Het |
| Mrpl37 |
C |
A |
4: 106,923,658 (GRCm39) |
R112L |
possibly damaging |
Het |
| Myo18b |
T |
C |
5: 112,957,551 (GRCm39) |
N1471D |
possibly damaging |
Het |
| Nes |
G |
A |
3: 87,885,949 (GRCm39) |
E1359K |
possibly damaging |
Het |
| Nipbl |
A |
T |
15: 8,391,221 (GRCm39) |
V251E |
possibly damaging |
Het |
| Nlrp1b |
T |
C |
11: 71,052,591 (GRCm39) |
I946V |
possibly damaging |
Het |
| Obscn |
T |
G |
11: 58,947,568 (GRCm39) |
|
probably benign |
Het |
| Or10q1b |
A |
T |
19: 13,682,499 (GRCm39) |
T103S |
probably benign |
Het |
| Or4a2 |
T |
A |
2: 89,248,502 (GRCm39) |
Y85F |
probably benign |
Het |
| Or51q1 |
T |
A |
7: 103,628,837 (GRCm39) |
I146K |
possibly damaging |
Het |
| Or5m12 |
A |
T |
2: 85,734,633 (GRCm39) |
M255K |
possibly damaging |
Het |
| Pck2 |
T |
C |
14: 55,782,041 (GRCm39) |
|
probably null |
Het |
| Pcsk9 |
A |
G |
4: 106,306,246 (GRCm39) |
|
probably benign |
Het |
| Phyhd1 |
A |
T |
2: 30,159,834 (GRCm39) |
Q56L |
probably benign |
Het |
| Plxnc1 |
C |
T |
10: 94,673,780 (GRCm39) |
G1001S |
probably null |
Het |
| Prss52 |
T |
C |
14: 64,351,127 (GRCm39) |
V304A |
probably benign |
Het |
| Prss55 |
C |
T |
14: 64,313,056 (GRCm39) |
G276D |
probably benign |
Het |
| Pzp |
A |
T |
6: 128,496,477 (GRCm39) |
Y252N |
probably damaging |
Het |
| Rad1 |
T |
C |
15: 10,490,543 (GRCm39) |
|
probably null |
Het |
| Ripply3 |
A |
T |
16: 94,136,616 (GRCm39) |
E92D |
possibly damaging |
Het |
| Rpp30 |
T |
A |
19: 36,081,803 (GRCm39) |
D255E |
probably benign |
Het |
| Rsad1 |
T |
C |
11: 94,439,290 (GRCm39) |
|
probably benign |
Het |
| Serpini2 |
A |
G |
3: 75,153,885 (GRCm39) |
M358T |
probably damaging |
Het |
| Slc35a1 |
T |
A |
4: 34,664,125 (GRCm39) |
E331V |
probably benign |
Het |
| Slc38a7 |
A |
G |
8: 96,572,506 (GRCm39) |
F179L |
probably damaging |
Het |
| Stmn4 |
C |
T |
14: 66,593,732 (GRCm39) |
Q42* |
probably null |
Het |
| Sytl2 |
T |
C |
7: 90,052,228 (GRCm39) |
|
probably benign |
Het |
| Tab2 |
G |
A |
10: 7,794,922 (GRCm39) |
A520V |
probably benign |
Het |
| Tcp10a |
A |
G |
17: 7,598,555 (GRCm39) |
I162M |
probably benign |
Het |
| Tmprss13 |
A |
G |
9: 45,244,986 (GRCm39) |
|
probably benign |
Het |
| Tnfrsf14 |
A |
G |
4: 155,011,054 (GRCm39) |
|
probably null |
Het |
| Vmn2r105 |
T |
A |
17: 20,454,965 (GRCm39) |
N57I |
probably damaging |
Het |
| Wars1 |
C |
T |
12: 108,841,119 (GRCm39) |
V220I |
probably benign |
Het |
| Washc1 |
T |
A |
17: 66,423,714 (GRCm39) |
D212E |
possibly damaging |
Het |
| Wdr17 |
C |
T |
8: 55,146,131 (GRCm39) |
A90T |
possibly damaging |
Het |
| Wdr43 |
A |
G |
17: 71,933,820 (GRCm39) |
D139G |
probably benign |
Het |
| Zfp235 |
A |
T |
7: 23,836,556 (GRCm39) |
H34L |
possibly damaging |
Het |
| Zkscan16 |
G |
A |
4: 58,952,391 (GRCm39) |
V230I |
probably benign |
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 |
|
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 |
|
R8433:Tpx2
|
UTSW |
2 |
152,722,056 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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'- CCCTCAGAAGACAGTCTATTGAGGAGAG -3'
(R):5'- GCAAGACACTAACCCTTCTAATGGCAG -3'
Sequencing Primer
(F):5'- TATTGAGGAGAGTATTAGAATCCTGG -3'
(R):5'- CAGCAGGTtggtgtcgc -3'
|
| Posted On |
2013-05-09 |
Incidental Mutation