Incidental Mutation 'R5952:Tacc1'
ID |
470953 |
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 |
044142-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.304)
|
Stock # |
R5952 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
25644568-25730901 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 25672011 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Isoleucine
at position 406
(L406I)
|
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 |
possibly damaging
Transcript: ENSMUST00000084030
AA Change: L406I
PolyPhen 2
Score 0.852 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000081043 Gene: ENSMUSG00000065954 AA Change: L406I
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 |
noncoding transcript
Transcript: ENSMUST00000211584
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000211622
|
Meta Mutation Damage Score |
0.0676 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.5%
|
Validation Efficiency |
91% (62/68) |
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: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Add2 |
A |
T |
6: 86,086,728 (GRCm39) |
D296V |
probably damaging |
Het |
Ak9 |
A |
G |
10: 41,233,559 (GRCm39) |
E599G |
possibly damaging |
Het |
Ank3 |
A |
T |
10: 69,822,293 (GRCm39) |
I1604F |
probably benign |
Het |
Arid4a |
A |
G |
12: 71,109,980 (GRCm39) |
D107G |
probably benign |
Het |
Bltp1 |
A |
G |
3: 37,019,770 (GRCm39) |
T2060A |
probably damaging |
Het |
Btn2a2 |
A |
T |
13: 23,666,978 (GRCm39) |
I209N |
probably benign |
Het |
Cenps |
C |
A |
4: 149,214,658 (GRCm39) |
|
probably benign |
Het |
Csmd3 |
A |
G |
15: 47,596,901 (GRCm39) |
V1979A |
probably damaging |
Het |
Cyp4a12b |
C |
T |
4: 115,271,714 (GRCm39) |
R142* |
probably null |
Het |
Ddx23 |
A |
T |
15: 98,556,121 (GRCm39) |
S66T |
unknown |
Het |
Efcab2 |
A |
G |
1: 178,303,439 (GRCm39) |
K121R |
probably benign |
Het |
Epb41l1 |
T |
A |
2: 156,345,708 (GRCm39) |
V237D |
probably damaging |
Het |
Epb41l1 |
G |
T |
2: 156,366,903 (GRCm39) |
A579S |
probably benign |
Het |
Epn1 |
G |
A |
7: 5,096,911 (GRCm39) |
R231H |
probably damaging |
Het |
Fbrs |
T |
C |
7: 127,086,924 (GRCm39) |
S649P |
probably damaging |
Het |
Fezf1 |
A |
G |
6: 23,247,427 (GRCm39) |
V216A |
probably benign |
Het |
Gen1 |
A |
T |
12: 11,310,897 (GRCm39) |
S112T |
probably damaging |
Het |
Glrx2 |
A |
G |
1: 143,620,872 (GRCm39) |
N84D |
probably benign |
Het |
Gm1818 |
T |
G |
12: 48,602,719 (GRCm39) |
|
noncoding transcript |
Het |
Hira |
C |
A |
16: 18,753,815 (GRCm39) |
T553K |
possibly damaging |
Het |
Hnrnph3 |
A |
G |
10: 62,851,374 (GRCm39) |
|
probably benign |
Het |
Ighv12-3 |
A |
T |
12: 114,330,204 (GRCm39) |
F97Y |
probably benign |
Het |
Jcad |
A |
G |
18: 4,674,554 (GRCm39) |
Q772R |
probably damaging |
Het |
Lamb3 |
A |
G |
1: 193,014,670 (GRCm39) |
T610A |
probably benign |
Het |
Map3k19 |
T |
C |
1: 127,750,477 (GRCm39) |
D958G |
probably benign |
Het |
Map4k4 |
G |
A |
1: 40,039,082 (GRCm39) |
|
probably benign |
Het |
Mocos |
T |
C |
18: 24,834,444 (GRCm39) |
V827A |
possibly damaging |
Het |
Ms4a10 |
T |
A |
19: 10,941,486 (GRCm39) |
D161V |
probably damaging |
Het |
Myh9 |
A |
G |
15: 77,657,532 (GRCm39) |
I1071T |
possibly damaging |
Het |
Myo15a |
A |
G |
11: 60,370,246 (GRCm39) |
E1002G |
possibly damaging |
Het |
Neurod6 |
G |
A |
6: 55,656,002 (GRCm39) |
H212Y |
probably damaging |
Het |
Or2v1 |
A |
T |
11: 49,025,399 (GRCm39) |
I95F |
probably damaging |
Het |
Or52z13 |
T |
A |
7: 103,247,174 (GRCm39) |
I217N |
probably damaging |
Het |
Or5b12 |
T |
C |
19: 12,897,194 (GRCm39) |
N160D |
probably benign |
Het |
Pcdhb17 |
T |
C |
18: 37,620,133 (GRCm39) |
V641A |
probably benign |
Het |
Ppp3ca |
A |
T |
3: 136,634,332 (GRCm39) |
M431L |
probably benign |
Het |
Ptprk |
A |
T |
10: 28,461,671 (GRCm39) |
I69F |
probably damaging |
Het |
Rab34 |
G |
T |
11: 78,081,094 (GRCm39) |
|
probably benign |
Het |
Rb1cc1 |
A |
G |
1: 6,318,406 (GRCm39) |
N619S |
probably benign |
Het |
Rnf169 |
T |
C |
7: 99,574,840 (GRCm39) |
H585R |
probably damaging |
Het |
Rps6kc1 |
A |
G |
1: 190,617,617 (GRCm39) |
V129A |
probably benign |
Het |
Siglecf |
C |
T |
7: 43,005,351 (GRCm39) |
T437M |
probably benign |
Het |
Slc25a2 |
T |
C |
18: 37,771,335 (GRCm39) |
N65D |
probably benign |
Het |
Spire1 |
A |
G |
18: 67,639,779 (GRCm39) |
S245P |
probably benign |
Het |
Sptb |
A |
T |
12: 76,679,158 (GRCm39) |
M99K |
probably benign |
Het |
Tas2r140 |
T |
C |
6: 40,468,476 (GRCm39) |
I102T |
probably benign |
Het |
Trappc11 |
A |
T |
8: 47,949,952 (GRCm39) |
|
probably null |
Het |
Trbv11 |
A |
G |
6: 41,084,153 (GRCm39) |
|
noncoding transcript |
Het |
Trmt11 |
A |
G |
10: 30,436,838 (GRCm39) |
Y301H |
probably benign |
Het |
Tspo |
A |
G |
15: 83,456,441 (GRCm39) |
T75A |
possibly damaging |
Het |
Ttn |
T |
C |
2: 76,710,569 (GRCm39) |
|
probably benign |
Het |
Zfhx4 |
A |
G |
3: 5,462,030 (GRCm39) |
Q1210R |
probably damaging |
Het |
Zhx3 |
A |
T |
2: 160,623,937 (GRCm39) |
Y77N |
probably 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 |
|
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 |
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'- TAGCTGCCAAACTCCCAGAG -3'
(R):5'- TGGCACCCAGTATACGAAAAG -3'
Sequencing Primer
(F):5'- CCGATGTCACTCACGTACG -3'
(R):5'- CCCAGTATACGAAAAGATGGCGTC -3'
|
Posted On |
2017-03-31 |