Incidental Mutation 'R4415:Tacc3'
ID |
326787 |
Institutional Source |
Beutler Lab
|
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 # |
R4415 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
33815472-33836339 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to G
at 33824028 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000110069
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074849]
[ENSMUST00000079534]
[ENSMUST00000114426]
[ENSMUST00000152847]
[ENSMUST00000201633]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably null
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 null
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 null
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 |
noncoding transcript
Transcript: ENSMUST00000139453
|
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 |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ace3 |
A |
T |
11: 105,895,947 (GRCm39) |
D631V |
probably benign |
Het |
Adam17 |
T |
C |
12: 21,395,702 (GRCm39) |
I274V |
possibly damaging |
Het |
Aebp1 |
A |
G |
11: 5,815,451 (GRCm39) |
D303G |
probably damaging |
Het |
B020004C17Rik |
T |
C |
14: 57,254,874 (GRCm39) |
*233R |
probably null |
Het |
Bcl9l |
C |
T |
9: 44,413,176 (GRCm39) |
P127S |
possibly damaging |
Het |
Bdp1 |
T |
C |
13: 100,167,369 (GRCm39) |
D2215G |
probably damaging |
Het |
Caly |
T |
C |
7: 139,652,593 (GRCm39) |
T52A |
probably damaging |
Het |
Ccdc125 |
T |
C |
13: 100,832,817 (GRCm39) |
S465P |
possibly damaging |
Het |
Cdc23 |
ACC |
AC |
18: 34,770,371 (GRCm39) |
|
probably null |
Het |
Colq |
T |
C |
14: 31,257,645 (GRCm39) |
K231E |
probably damaging |
Het |
Fam32a |
T |
A |
8: 72,975,785 (GRCm39) |
I77N |
probably damaging |
Het |
Impdh1 |
C |
T |
6: 29,209,221 (GRCm39) |
V49M |
probably damaging |
Het |
Kcnh7 |
A |
G |
2: 62,536,417 (GRCm39) |
I1055T |
probably damaging |
Het |
Lad1 |
A |
G |
1: 135,756,484 (GRCm39) |
D364G |
probably benign |
Het |
Lama2 |
G |
T |
10: 26,865,340 (GRCm39) |
Y947* |
probably null |
Het |
Myo5b |
T |
A |
18: 74,713,479 (GRCm39) |
I108N |
probably damaging |
Het |
Nvl |
T |
C |
1: 180,932,679 (GRCm39) |
T713A |
probably benign |
Het |
Oit3 |
T |
C |
10: 59,263,925 (GRCm39) |
Y403C |
probably damaging |
Het |
Or6c70 |
T |
C |
10: 129,709,826 (GRCm39) |
T267A |
probably benign |
Het |
Pappa |
A |
G |
4: 65,223,532 (GRCm39) |
T1236A |
probably benign |
Het |
Pip4p2 |
C |
T |
4: 14,912,463 (GRCm39) |
R191C |
probably damaging |
Het |
Rcl1 |
G |
A |
19: 29,095,762 (GRCm39) |
V116I |
probably benign |
Het |
Rdh14 |
G |
A |
12: 10,441,231 (GRCm39) |
|
probably null |
Het |
Rfx2 |
T |
A |
17: 57,094,733 (GRCm39) |
T204S |
possibly damaging |
Het |
Rin2 |
C |
T |
2: 145,702,366 (GRCm39) |
T354I |
probably benign |
Het |
Ripor1 |
T |
C |
8: 106,344,608 (GRCm39) |
S581P |
probably benign |
Het |
Rnf213 |
T |
A |
11: 119,374,790 (GRCm39) |
V5084E |
probably damaging |
Het |
Scn9a |
A |
T |
2: 66,357,037 (GRCm39) |
V1077E |
probably damaging |
Het |
Slc15a5 |
A |
G |
6: 138,056,754 (GRCm39) |
V54A |
probably benign |
Het |
Slc35b2 |
G |
A |
17: 45,877,355 (GRCm39) |
V161M |
probably benign |
Het |
Snx19 |
T |
A |
9: 30,348,779 (GRCm39) |
L804Q |
probably damaging |
Het |
Spata31e5 |
T |
A |
1: 28,816,214 (GRCm39) |
Q606L |
probably benign |
Het |
Specc1l |
C |
A |
10: 75,082,162 (GRCm39) |
N519K |
possibly damaging |
Het |
Spmip6 |
T |
C |
4: 41,505,574 (GRCm39) |
T183A |
possibly damaging |
Het |
Stambp |
A |
T |
6: 83,534,464 (GRCm39) |
N274K |
probably damaging |
Het |
Stox1 |
T |
C |
10: 62,495,348 (GRCm39) |
N975S |
probably benign |
Het |
Tubb1 |
G |
A |
2: 174,299,466 (GRCm39) |
E383K |
probably benign |
Het |
Ube3b |
A |
T |
5: 114,550,505 (GRCm39) |
D844V |
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 |
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 |
R2433:Tacc3
|
UTSW |
5 |
33,829,083 (GRCm39) |
missense |
possibly damaging |
0.92 |
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'- TATAAAACTGGAAGCTCACCTAGG -3'
(R):5'- AGAGTCCTGGGTCAGAACTC -3'
Sequencing Primer
(F):5'- GGAAGCTCACCTAGGACTTTC -3'
(R):5'- GGTCAGAACTCTGCTGCAAGAC -3'
|
Posted On |
2015-07-07 |