Incidental Mutation 'R2433:Tacc3'
| ID |
250484 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tacc3
|
| Ensembl Gene |
ENSMUSG00000037313 |
| Gene Name |
transforming, acidic coiled-coil containing protein 3 |
| Synonyms |
Arnt interacting protein, Aint |
| MMRRC Submission |
040394-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2433 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
33815472-33836339 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 33829083 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 594
(K594R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110069
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074849]
[ENSMUST00000079534]
[ENSMUST00000114426]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000074849
AA Change: K601R
PolyPhen 2
Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000074394
Gene: ENSMUSG00000037313
AA Change: K601R
| 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 |
possibly damaging
Transcript: ENSMUST00000079534
AA Change: K594R
PolyPhen 2
Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000078491
Gene: ENSMUSG00000037313
AA Change: K594R
| 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 |
possibly damaging
Transcript: ENSMUST00000114426
AA Change: K594R
PolyPhen 2
Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000110069
Gene: ENSMUSG00000037313
AA Change: K594R
| 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 |
possibly damaging
Transcript: ENSMUST00000139888
AA Change: K137R
PolyPhen 2
Score 0.732 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000117407
Gene: ENSMUSG00000037313
AA Change: K137R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TACC
|
1 |
155 |
1.2e-58 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.3%
|
| 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: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp6v0a4 |
A |
G |
6: 38,058,964 (GRCm39) |
|
probably null |
Het |
| Bpifb4 |
A |
G |
2: 153,801,597 (GRCm39) |
K573E |
probably damaging |
Het |
| Capn10 |
T |
A |
1: 92,870,247 (GRCm39) |
D244E |
probably benign |
Het |
| Dhrs11 |
C |
A |
11: 84,719,745 (GRCm39) |
|
probably benign |
Het |
| Eipr1 |
G |
A |
12: 28,913,042 (GRCm39) |
G248R |
probably damaging |
Het |
| Fam120a |
A |
C |
13: 49,087,444 (GRCm39) |
D305E |
probably damaging |
Het |
| Hmgcr |
A |
G |
13: 96,802,393 (GRCm39) |
L97P |
probably damaging |
Het |
| Htt |
A |
T |
5: 35,064,885 (GRCm39) |
S3033C |
possibly damaging |
Het |
| Igkv10-94 |
T |
C |
6: 68,681,559 (GRCm39) |
T94A |
probably benign |
Het |
| Krtap16-3 |
T |
C |
16: 88,759,533 (GRCm39) |
Y60C |
unknown |
Het |
| Lrp4 |
G |
A |
2: 91,336,360 (GRCm39) |
V1724I |
probably benign |
Het |
| Myo5b |
A |
G |
18: 74,892,158 (GRCm39) |
Y1634C |
probably damaging |
Het |
| Nrxn3 |
A |
G |
12: 89,943,160 (GRCm39) |
Y96C |
probably damaging |
Het |
| Obscn |
A |
T |
11: 58,929,912 (GRCm39) |
|
probably null |
Het |
| Pde3b |
T |
C |
7: 114,126,072 (GRCm39) |
C769R |
probably benign |
Het |
| Phlpp2 |
T |
G |
8: 110,666,634 (GRCm39) |
C1054W |
probably damaging |
Het |
| Pttg1 |
A |
T |
11: 43,311,178 (GRCm39) |
V193D |
probably damaging |
Het |
| Robo1 |
T |
C |
16: 72,767,127 (GRCm39) |
L433S |
probably benign |
Het |
| Sema4f |
A |
T |
6: 82,916,490 (GRCm39) |
C13S |
possibly damaging |
Het |
| Slc12a3 |
T |
C |
8: 95,072,944 (GRCm39) |
L689P |
probably benign |
Het |
| Slc7a6os |
T |
C |
8: 106,931,003 (GRCm39) |
N211S |
possibly damaging |
Het |
| Smurf2 |
T |
A |
11: 106,759,490 (GRCm39) |
I69F |
probably benign |
Het |
| St8sia3 |
A |
T |
18: 64,402,787 (GRCm39) |
H198L |
probably benign |
Het |
| Trip12 |
A |
T |
1: 84,721,544 (GRCm39) |
I1396K |
possibly damaging |
Het |
| Ugcg |
A |
G |
4: 59,207,876 (GRCm39) |
T72A |
possibly damaging |
Het |
| Zfp944 |
A |
T |
17: 22,558,193 (GRCm39) |
Y351* |
probably null |
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 |
|
IGL01390:Tacc3
|
APN |
5 |
33,825,405 (GRCm39) |
unclassified |
probably benign |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTGTGAGTACCAGATACCCATC -3'
(R):5'- CCCTTCTCAAGCAGAAAAGGAG -3'
Sequencing Primer
(F):5'- CATCCTGGGAGGGAGGG -3'
(R):5'- CCTTCTCAAGCAGAAAAGGAGACTAG -3'
|
| Posted On |
2014-11-12 |
Incidental Mutation