Incidental Mutation 'R7521:Tacc1'
ID |
582667 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tacc1
|
Ensembl Gene |
ENSMUSG00000065954 |
Gene Name |
transforming, acidic coiled-coil containing protein 1 |
Synonyms |
4833447E04Rik, B230378H13Rik, Tacc1 |
MMRRC Submission |
045593-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.310)
|
Stock # |
R7521 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
25644568-25730901 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 25665268 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 488
(V488A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000081043
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084030]
[ENSMUST00000084512]
[ENSMUST00000210016]
[ENSMUST00000210767]
[ENSMUST00000210933]
[ENSMUST00000211622]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000084030
AA Change: V488A
PolyPhen 2
Score 0.824 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000081043 Gene: ENSMUSG00000065954 AA Change: V488A
Domain | Start | End | E-Value | Type |
low complexity region
|
24 |
45 |
N/A |
INTRINSIC |
Pfam:TACC
|
569 |
769 |
3.6e-84 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000084512
AA Change: V80A
PolyPhen 2
Score 0.638 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000081560 Gene: ENSMUSG00000065954 AA Change: V80A
Domain | Start | End | E-Value | Type |
low complexity region
|
24 |
45 |
N/A |
INTRINSIC |
Pfam:TACC
|
160 |
366 |
3.5e-82 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000210016
AA Change: V39A
PolyPhen 2
Score 0.738 (Sensitivity: 0.85; Specificity: 0.92)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000210767
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000210933
AA Change: V50A
PolyPhen 2
Score 0.455 (Sensitivity: 0.89; Specificity: 0.90)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000211622
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This locus may represent a breast cancer candidate gene. It is located close to FGFR1 on a region of chromosome 8 that is amplified in some breast cancers. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2009]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcg1 |
A |
G |
17: 31,283,543 (GRCm39) |
N76S |
probably benign |
Het |
Ahnak |
T |
C |
19: 8,979,715 (GRCm39) |
V333A |
possibly damaging |
Het |
Arid1b |
GGCGGC |
GGCGGCAGCGGC |
17: 5,046,135 (GRCm39) |
|
probably benign |
Het |
Arid1b |
GGGCGGCGGCGGCGGCGGCGGCGG |
GGGCGGCGGCGGCGGCGGCGGCGGCGGCGG |
17: 5,046,119 (GRCm39) |
|
probably benign |
Het |
Arid1b |
A |
G |
17: 5,392,865 (GRCm39) |
T2079A |
probably benign |
Het |
Clca3a2 |
A |
G |
3: 144,507,674 (GRCm39) |
*190R |
probably null |
Het |
Cntnap3 |
G |
T |
13: 64,919,815 (GRCm39) |
Q681K |
probably benign |
Het |
Coro7 |
T |
C |
16: 4,449,346 (GRCm39) |
D689G |
probably benign |
Het |
Dnah9 |
A |
T |
11: 65,880,663 (GRCm39) |
S2645T |
probably damaging |
Het |
Dnm3 |
A |
T |
1: 161,962,113 (GRCm39) |
L32H |
probably damaging |
Het |
Dtx4 |
T |
C |
19: 12,469,861 (GRCm39) |
K89E |
probably benign |
Het |
Exph5 |
T |
A |
9: 53,285,377 (GRCm39) |
N819K |
possibly damaging |
Het |
Fpgt |
A |
G |
3: 154,792,765 (GRCm39) |
S421P |
possibly damaging |
Het |
Gbp5 |
T |
C |
3: 142,206,382 (GRCm39) |
V22A |
probably benign |
Het |
Gpatch1 |
C |
T |
7: 34,993,213 (GRCm39) |
R544Q |
probably damaging |
Het |
Grm5 |
T |
A |
7: 87,723,480 (GRCm39) |
L590Q |
possibly damaging |
Het |
Hc |
T |
C |
2: 34,935,344 (GRCm39) |
D172G |
possibly damaging |
Het |
Ifi209 |
A |
T |
1: 173,470,261 (GRCm39) |
N283I |
probably damaging |
Het |
Igsf11 |
C |
T |
16: 38,829,274 (GRCm39) |
T115M |
probably damaging |
Het |
Il17rd |
T |
A |
14: 26,816,823 (GRCm39) |
M320K |
probably benign |
Het |
Kdm5a |
T |
A |
6: 120,409,148 (GRCm39) |
C1610* |
probably null |
Het |
Mast3 |
T |
A |
8: 71,241,412 (GRCm39) |
I175L |
probably benign |
Het |
Mif |
A |
T |
10: 75,695,942 (GRCm39) |
S21T |
possibly damaging |
Het |
Mindy2 |
T |
C |
9: 70,514,792 (GRCm39) |
Q542R |
probably benign |
Het |
Nalcn |
T |
A |
14: 123,530,870 (GRCm39) |
E1389D |
probably damaging |
Het |
Or55b3 |
C |
T |
7: 102,126,402 (GRCm39) |
R225H |
possibly damaging |
Het |
Or5k8 |
T |
C |
16: 58,644,257 (GRCm39) |
I272V |
probably benign |
Het |
Or5t16 |
T |
A |
2: 86,818,954 (GRCm39) |
T189S |
probably damaging |
Het |
Or7e177 |
T |
C |
9: 20,212,036 (GRCm39) |
I181T |
probably benign |
Het |
Pcsk5 |
T |
A |
19: 17,432,196 (GRCm39) |
D1473V |
probably benign |
Het |
Phax |
C |
T |
18: 56,708,990 (GRCm39) |
Q185* |
probably null |
Het |
Ppp2r2b |
T |
A |
18: 43,192,242 (GRCm39) |
S22C |
probably benign |
Het |
Prss40 |
A |
G |
1: 34,597,090 (GRCm39) |
F153L |
probably benign |
Het |
Slc22a2 |
T |
C |
17: 12,805,710 (GRCm39) |
S154P |
probably benign |
Het |
Speer4a1 |
G |
A |
5: 26,241,763 (GRCm39) |
T121I |
probably damaging |
Het |
Tdrp |
G |
A |
8: 14,003,831 (GRCm39) |
Q169* |
probably null |
Het |
Tmem30b |
C |
T |
12: 73,592,092 (GRCm39) |
R341H |
probably benign |
Het |
|
Other mutations in Tacc1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02142:Tacc1
|
APN |
8 |
25,665,233 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02273:Tacc1
|
APN |
8 |
25,649,797 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02728:Tacc1
|
APN |
8 |
25,665,235 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02738:Tacc1
|
APN |
8 |
25,691,159 (GRCm39) |
missense |
probably damaging |
1.00 |
R0194:Tacc1
|
UTSW |
8 |
25,672,392 (GRCm39) |
missense |
probably benign |
0.45 |
R0617:Tacc1
|
UTSW |
8 |
25,668,020 (GRCm39) |
splice site |
probably benign |
|
R1469:Tacc1
|
UTSW |
8 |
25,672,271 (GRCm39) |
missense |
probably benign |
0.00 |
R1469:Tacc1
|
UTSW |
8 |
25,672,271 (GRCm39) |
missense |
probably benign |
0.00 |
R1785:Tacc1
|
UTSW |
8 |
25,654,509 (GRCm39) |
missense |
probably damaging |
1.00 |
R1786:Tacc1
|
UTSW |
8 |
25,654,509 (GRCm39) |
missense |
probably damaging |
1.00 |
R1889:Tacc1
|
UTSW |
8 |
25,665,269 (GRCm39) |
missense |
probably damaging |
0.99 |
R2131:Tacc1
|
UTSW |
8 |
25,654,509 (GRCm39) |
missense |
probably damaging |
1.00 |
R2133:Tacc1
|
UTSW |
8 |
25,654,509 (GRCm39) |
missense |
probably damaging |
1.00 |
R2419:Tacc1
|
UTSW |
8 |
25,672,829 (GRCm39) |
missense |
possibly damaging |
0.90 |
R4740:Tacc1
|
UTSW |
8 |
25,672,581 (GRCm39) |
missense |
possibly damaging |
0.94 |
R4793:Tacc1
|
UTSW |
8 |
25,672,405 (GRCm39) |
missense |
possibly damaging |
0.96 |
R4911:Tacc1
|
UTSW |
8 |
25,672,622 (GRCm39) |
missense |
possibly damaging |
0.66 |
R5177:Tacc1
|
UTSW |
8 |
25,691,237 (GRCm39) |
missense |
probably damaging |
1.00 |
R5320:Tacc1
|
UTSW |
8 |
25,671,881 (GRCm39) |
missense |
probably benign |
0.31 |
R5377:Tacc1
|
UTSW |
8 |
25,672,299 (GRCm39) |
missense |
possibly damaging |
0.94 |
R5452:Tacc1
|
UTSW |
8 |
25,654,431 (GRCm39) |
missense |
probably null |
1.00 |
R5930:Tacc1
|
UTSW |
8 |
25,672,215 (GRCm39) |
missense |
probably benign |
|
R5952:Tacc1
|
UTSW |
8 |
25,672,011 (GRCm39) |
missense |
possibly damaging |
0.85 |
R6767:Tacc1
|
UTSW |
8 |
25,730,816 (GRCm39) |
start codon destroyed |
probably null |
|
R7200:Tacc1
|
UTSW |
8 |
25,731,656 (GRCm39) |
unclassified |
probably benign |
|
R7464:Tacc1
|
UTSW |
8 |
25,654,480 (GRCm39) |
missense |
probably damaging |
1.00 |
R7599:Tacc1
|
UTSW |
8 |
25,691,301 (GRCm39) |
start codon destroyed |
probably damaging |
1.00 |
R8050:Tacc1
|
UTSW |
8 |
25,659,230 (GRCm39) |
missense |
probably benign |
0.12 |
R8205:Tacc1
|
UTSW |
8 |
25,672,803 (GRCm39) |
missense |
probably benign |
0.03 |
R8377:Tacc1
|
UTSW |
8 |
25,672,299 (GRCm39) |
missense |
possibly damaging |
0.68 |
R8418:Tacc1
|
UTSW |
8 |
25,731,532 (GRCm39) |
missense |
probably damaging |
1.00 |
R8780:Tacc1
|
UTSW |
8 |
25,672,077 (GRCm39) |
missense |
probably benign |
0.00 |
R9120:Tacc1
|
UTSW |
8 |
25,659,255 (GRCm39) |
missense |
probably damaging |
1.00 |
R9121:Tacc1
|
UTSW |
8 |
25,659,255 (GRCm39) |
missense |
probably damaging |
1.00 |
R9122:Tacc1
|
UTSW |
8 |
25,659,255 (GRCm39) |
missense |
probably damaging |
1.00 |
R9132:Tacc1
|
UTSW |
8 |
25,672,151 (GRCm39) |
missense |
possibly damaging |
0.71 |
R9238:Tacc1
|
UTSW |
8 |
25,672,634 (GRCm39) |
missense |
probably benign |
0.04 |
|
Predicted Primers |
PCR Primer
(F):5'- ACTAACTGTCCCTCAGGAGAC -3'
(R):5'- CTGGTTTGAAGGGCTGAAGC -3'
Sequencing Primer
(F):5'- TGTACCTGCTCCTGAGGATGAAAAC -3'
(R):5'- GGGCTGAAGCTCTCTCCTAG -3'
|
Posted On |
2019-10-17 |