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 |
Incidental Mutation