Incidental Mutation 'IGL01390:Tacc3'
| ID |
79184 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tacc3
|
| Ensembl Gene |
ENSMUSG00000037313 |
| Gene Name |
transforming, acidic coiled-coil containing protein 3 |
| Synonyms |
Arnt interacting protein, Aint |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01390
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
33815472-33836339 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
C to T
at 33825405 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144567
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074849]
[ENSMUST00000079534]
[ENSMUST00000114426]
[ENSMUST00000152847]
[ENSMUST00000201633]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000074849
|
| SMART Domains |
Protein: ENSMUSP00000074394
Gene: ENSMUSG00000037313
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
127 |
143 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
144 |
212 |
2.67e-29 |
PROSPERO |
|
internal_repeat_1
|
240 |
308 |
2.67e-29 |
PROSPERO |
|
Pfam:TACC
|
435 |
631 |
2.6e-74 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000079534
|
| SMART Domains |
Protein: ENSMUSP00000078491
Gene: ENSMUSG00000037313
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
127 |
143 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
144 |
212 |
2.48e-29 |
PROSPERO |
|
internal_repeat_1
|
240 |
308 |
2.48e-29 |
PROSPERO |
|
Pfam:TACC
|
427 |
629 |
2.1e-73 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114426
|
| SMART Domains |
Protein: ENSMUSP00000110069
Gene: ENSMUSG00000037313
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
127 |
143 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
144 |
212 |
2.48e-29 |
PROSPERO |
|
internal_repeat_1
|
240 |
308 |
2.48e-29 |
PROSPERO |
|
Pfam:TACC
|
427 |
629 |
2.1e-73 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000138240
|
| SMART Domains |
Protein: ENSMUSP00000115481
Gene: ENSMUSG00000037313
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TACC
|
1 |
136 |
5.8e-40 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000139888
|
| SMART Domains |
Protein: ENSMUSP00000117407
Gene: ENSMUSG00000037313
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TACC
|
1 |
155 |
1.2e-58 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000152847
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000201633
|
| SMART Domains |
Protein: ENSMUSP00000144567
Gene: ENSMUSG00000037313
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
17 |
33 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
34 |
102 |
8.87e-21 |
PROSPERO |
|
internal_repeat_1
|
130 |
198 |
8.87e-21 |
PROSPERO |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the transforming acidic colied-coil protein family. The encoded protein is a motor spindle protein that may play a role in stabilization of the mitotic spindle. This protein may also play a role in growth a differentiation of certain cancer cells. [provided by RefSeq, Nov 2011]
PHENOTYPE: Nullizygous mutations cause embryonic growth delay and prenatal death. Homozygotes for a null allele show hematopoietic deficiencies and severe facial clefts. Homozygotes for a hypomorphic allele die neonatally with malformed axial skeletons due to failed mitosis in mesenchymal sclerotome cells. [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 |
|---|
| Atp6v0a1 |
A |
G |
11: 100,934,628 (GRCm39) |
K565R |
probably benign |
Het |
| Cacna2d3 |
T |
C |
14: 28,665,548 (GRCm39) |
T158A |
possibly damaging |
Het |
| Dnah5 |
A |
G |
15: 28,411,686 (GRCm39) |
D3685G |
probably benign |
Het |
| Dock1 |
T |
C |
7: 134,346,776 (GRCm39) |
I236T |
possibly damaging |
Het |
| Dock6 |
A |
G |
9: 21,714,341 (GRCm39) |
V1803A |
probably damaging |
Het |
| Epb41 |
T |
C |
4: 131,731,048 (GRCm39) |
I178V |
probably benign |
Het |
| Gm10110 |
C |
A |
14: 90,135,677 (GRCm39) |
|
noncoding transcript |
Het |
| H2ac6 |
T |
C |
13: 23,867,499 (GRCm39) |
|
probably benign |
Het |
| Hoxb7 |
A |
C |
11: 96,177,837 (GRCm39) |
N95T |
probably benign |
Het |
| Ikzf2 |
C |
A |
1: 69,609,801 (GRCm39) |
C116F |
probably damaging |
Het |
| Ints8 |
A |
T |
4: 11,218,679 (GRCm39) |
|
probably benign |
Het |
| Itprid1 |
C |
T |
6: 55,874,983 (GRCm39) |
P311L |
probably benign |
Het |
| Man2a1 |
T |
C |
17: 65,017,700 (GRCm39) |
Y649H |
probably benign |
Het |
| Mcm8 |
T |
C |
2: 132,679,998 (GRCm39) |
|
probably benign |
Het |
| Msi1 |
T |
A |
5: 115,576,780 (GRCm39) |
D137E |
possibly damaging |
Het |
| Or8u10 |
T |
C |
2: 85,915,984 (GRCm39) |
I46V |
probably benign |
Het |
| Pde6c |
A |
G |
19: 38,150,376 (GRCm39) |
Y507C |
probably benign |
Het |
| Prl7d1 |
A |
G |
13: 27,894,149 (GRCm39) |
V140A |
possibly damaging |
Het |
| Rb1 |
T |
A |
14: 73,532,439 (GRCm39) |
I132F |
probably benign |
Het |
| Rgl1 |
A |
G |
1: 152,447,339 (GRCm39) |
|
probably benign |
Het |
| Rpl18a |
G |
T |
8: 71,348,154 (GRCm39) |
|
probably benign |
Het |
| Sf3b1 |
T |
C |
1: 55,026,588 (GRCm39) |
I1274V |
probably benign |
Het |
| Slc9a3 |
A |
C |
13: 74,298,880 (GRCm39) |
I100L |
probably benign |
Het |
| Sorcs3 |
T |
A |
19: 48,778,570 (GRCm39) |
Y996N |
probably damaging |
Het |
| Sra1 |
A |
G |
18: 36,803,134 (GRCm39) |
L37P |
probably damaging |
Het |
| Stim1 |
A |
G |
7: 102,076,369 (GRCm39) |
Q440R |
possibly damaging |
Het |
| Tas2r104 |
T |
A |
6: 131,662,448 (GRCm39) |
Y87F |
probably benign |
Het |
| Tbl2 |
T |
C |
5: 135,185,217 (GRCm39) |
|
probably benign |
Het |
| Vsig10l |
C |
T |
7: 43,115,889 (GRCm39) |
S410F |
probably damaging |
Het |
|
| Other mutations in Tacc3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00741:Tacc3
|
APN |
5 |
33,826,984 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00742:Tacc3
|
APN |
5 |
33,818,578 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R0714:Tacc3
|
UTSW |
5 |
33,828,741 (GRCm39) |
splice site |
probably benign |
|
|
R1440:Tacc3
|
UTSW |
5 |
33,825,321 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1480:Tacc3
|
UTSW |
5 |
33,821,941 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1500:Tacc3
|
UTSW |
5 |
33,818,652 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1851:Tacc3
|
UTSW |
5 |
33,825,544 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2136:Tacc3
|
UTSW |
5 |
33,828,748 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2433:Tacc3
|
UTSW |
5 |
33,829,083 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4415:Tacc3
|
UTSW |
5 |
33,824,028 (GRCm39) |
splice site |
probably null |
|
|
R4576:Tacc3
|
UTSW |
5 |
33,818,841 (GRCm39) |
intron |
probably benign |
|
|
R4825:Tacc3
|
UTSW |
5 |
33,829,357 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4960:Tacc3
|
UTSW |
5 |
33,829,326 (GRCm39) |
missense |
probably benign |
0.30 |
|
R7121:Tacc3
|
UTSW |
5 |
33,824,509 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R7464:Tacc3
|
UTSW |
5 |
33,818,628 (GRCm39) |
missense |
probably benign |
0.12 |
|
R8071:Tacc3
|
UTSW |
5 |
33,821,169 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8425:Tacc3
|
UTSW |
5 |
33,821,874 (GRCm39) |
missense |
unknown |
|
|
R8722:Tacc3
|
UTSW |
5 |
33,825,553 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8809:Tacc3
|
UTSW |
5 |
33,824,029 (GRCm39) |
unclassified |
probably benign |
|
|
R8987:Tacc3
|
UTSW |
5 |
33,826,169 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R9485:Tacc3
|
UTSW |
5 |
33,821,644 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
RF020:Tacc3
|
UTSW |
5 |
33,818,568 (GRCm39) |
start codon destroyed |
probably null |
0.53 |
|
| Posted On |
2013-11-05 |
Incidental Mutation