Incidental Mutation 'R8780:Tacc1'
ID |
670208 |
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 |
068604-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.310)
|
Stock # |
R8780 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
25644568-25730901 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 25672077 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Glycine
at position 384
(S384G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000081043
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084030]
[ENSMUST00000084512]
[ENSMUST00000209827]
[ENSMUST00000210016]
[ENSMUST00000210488]
[ENSMUST00000210767]
[ENSMUST00000210933]
[ENSMUST00000211622]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000084030
AA Change: S384G
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000081043 Gene: ENSMUSG00000065954 AA Change: S384G
Domain | Start | End | E-Value | Type |
low complexity region
|
24 |
45 |
N/A |
INTRINSIC |
Pfam:TACC
|
569 |
769 |
3.6e-84 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000084512
|
SMART Domains |
Protein: ENSMUSP00000081560 Gene: ENSMUSG00000065954
Domain | Start | End | E-Value | Type |
low complexity region
|
24 |
45 |
N/A |
INTRINSIC |
Pfam:TACC
|
160 |
366 |
3.5e-82 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000209827
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000210016
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000210488
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000210767
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000210933
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000211622
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
Validation Efficiency |
100% (38/38) |
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: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ace3 |
A |
G |
11: 105,888,364 (GRCm39) |
D358G |
probably damaging |
Het |
Actmap |
T |
C |
7: 26,900,503 (GRCm39) |
S161P |
probably benign |
Het |
Adgrd1 |
G |
A |
5: 129,174,138 (GRCm39) |
|
probably benign |
Het |
Aff4 |
C |
A |
11: 53,271,444 (GRCm39) |
T327K |
probably damaging |
Het |
Ajap1 |
A |
G |
4: 153,470,961 (GRCm39) |
V282A |
probably damaging |
Het |
Arrb1 |
A |
G |
7: 99,240,568 (GRCm39) |
D194G |
probably benign |
Het |
Atp1a3 |
T |
C |
7: 24,680,979 (GRCm39) |
N836S |
probably damaging |
Het |
C1ql3 |
A |
G |
2: 13,015,567 (GRCm39) |
V31A |
probably benign |
Het |
Cc2d2a |
A |
G |
5: 43,896,692 (GRCm39) |
T1530A |
probably damaging |
Het |
Cenpc1 |
A |
T |
5: 86,164,209 (GRCm39) |
I804K |
probably damaging |
Het |
Chmp2b |
G |
A |
16: 65,359,422 (GRCm39) |
|
probably benign |
Het |
Chrm5 |
T |
A |
2: 112,310,453 (GRCm39) |
E221V |
possibly damaging |
Het |
Col22a1 |
A |
T |
15: 71,878,796 (GRCm39) |
H120Q |
probably damaging |
Het |
Esp16 |
C |
T |
17: 39,850,729 (GRCm39) |
A36V |
probably damaging |
Het |
Fn1 |
A |
T |
1: 71,682,308 (GRCm39) |
S283T |
probably benign |
Het |
Hipk3 |
A |
G |
2: 104,264,179 (GRCm39) |
L773S |
probably damaging |
Het |
Lcor |
C |
T |
19: 41,573,698 (GRCm39) |
R818W |
probably damaging |
Het |
Morn3 |
A |
G |
5: 123,175,825 (GRCm39) |
W188R |
probably damaging |
Het |
Msantd2 |
T |
G |
9: 37,434,798 (GRCm39) |
L547R |
probably damaging |
Het |
Naip5 |
T |
A |
13: 100,356,338 (GRCm39) |
E1092D |
probably benign |
Het |
Obi1 |
A |
T |
14: 104,717,082 (GRCm39) |
C430* |
probably null |
Het |
Or4a15 |
A |
T |
2: 89,193,652 (GRCm39) |
N40K |
probably damaging |
Het |
Or7e166 |
T |
C |
9: 19,624,653 (GRCm39) |
F177L |
possibly damaging |
Het |
Pcdhga5 |
G |
A |
18: 37,828,826 (GRCm39) |
V425I |
probably benign |
Het |
Pdxk |
T |
A |
10: 78,283,786 (GRCm39) |
Y136F |
probably benign |
Het |
Prr14 |
T |
C |
7: 127,075,410 (GRCm39) |
F503L |
probably benign |
Het |
Prss54 |
T |
C |
8: 96,286,057 (GRCm39) |
I339V |
probably benign |
Het |
Repin1 |
T |
C |
6: 48,574,073 (GRCm39) |
I334T |
probably damaging |
Het |
Runx3 |
A |
G |
4: 134,882,720 (GRCm39) |
D152G |
probably damaging |
Het |
She |
T |
A |
3: 89,739,256 (GRCm39) |
I149N |
probably damaging |
Het |
Stra6 |
A |
G |
9: 58,042,254 (GRCm39) |
|
probably benign |
Het |
Svil |
A |
G |
18: 5,063,449 (GRCm39) |
T907A |
probably benign |
Het |
Syvn1 |
A |
G |
19: 6,100,393 (GRCm39) |
D288G |
probably damaging |
Het |
Tmc8 |
ACTTCCT |
ACT |
11: 117,681,558 (GRCm39) |
|
probably null |
Het |
Trhr |
T |
C |
15: 44,061,149 (GRCm39) |
I223T |
possibly damaging |
Het |
Vmn2r45 |
A |
G |
7: 8,484,371 (GRCm39) |
I478T |
possibly damaging |
Het |
Zbtb3 |
G |
T |
19: 8,781,173 (GRCm39) |
R262M |
possibly damaging |
Het |
Zfp516 |
T |
C |
18: 83,006,080 (GRCm39) |
S995P |
probably benign |
Het |
Zfp985 |
A |
G |
4: 147,668,412 (GRCm39) |
I427V |
possibly damaging |
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 |
R7521:Tacc1
|
UTSW |
8 |
25,665,268 (GRCm39) |
missense |
possibly damaging |
0.82 |
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 |
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'- AACGTGACTTTGCCTTCTTGGG -3'
(R):5'- ATGTCAAGATCAGGAGCGCC -3'
Sequencing Primer
(F):5'- CATTAACATGATTACCAGTGGCGG -3'
(R):5'- CCTTCCGAAGCAATCTGGCAG -3'
|
Posted On |
2021-04-30 |