Incidental Mutation 'R9120:Tacc1'
| ID |
692732 |
| 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 |
068923-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.304)
|
| Stock # |
R9120 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
25644568-25730901 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 25659255 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 570
(S570R)
|
| 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 |
probably damaging
Transcript: ENSMUST00000084030
AA Change: S570R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000081043
Gene: ENSMUSG00000065954
AA Change: S570R
| 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
AA Change: S162R
PolyPhen 2
Score 0.086 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000081560
Gene: ENSMUSG00000065954
AA Change: S162R
| 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 damaging
Transcript: ENSMUST00000210016
AA Change: S121R
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210767
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210933
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211622
|
| Meta Mutation Damage Score |
0.3552 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
100% (54/54) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam25 |
A |
G |
8: 41,209,141 (GRCm39) |
|
probably benign |
Het |
| Adgrb2 |
A |
G |
4: 129,906,302 (GRCm39) |
N910S |
possibly damaging |
Het |
| Arhgap24 |
A |
T |
5: 103,040,016 (GRCm39) |
I411F |
probably benign |
Het |
| BC030500 |
T |
A |
8: 59,365,911 (GRCm39) |
L15Q |
unknown |
Het |
| BC051665 |
A |
G |
13: 60,932,916 (GRCm39) |
V15A |
probably benign |
Het |
| Bicc1 |
T |
C |
10: 70,776,862 (GRCm39) |
D732G |
probably damaging |
Het |
| Bpifb1 |
A |
G |
2: 154,046,692 (GRCm39) |
I71V |
probably benign |
Het |
| Btnl1 |
A |
T |
17: 34,598,681 (GRCm39) |
Q99L |
possibly damaging |
Het |
| Castor1 |
T |
A |
11: 4,170,767 (GRCm39) |
V196D |
possibly damaging |
Het |
| Col9a2 |
G |
T |
4: 120,900,951 (GRCm39) |
|
probably benign |
Het |
| D7Ertd443e |
T |
A |
7: 133,871,986 (GRCm39) |
D625V |
probably damaging |
Het |
| Dchs2 |
A |
T |
3: 83,187,535 (GRCm39) |
D1327V |
probably damaging |
Het |
| Ddx1 |
A |
G |
12: 13,275,458 (GRCm39) |
V543A |
possibly damaging |
Het |
| Dgkz |
G |
T |
2: 91,768,545 (GRCm39) |
D714E |
probably benign |
Het |
| Dlk1 |
A |
G |
12: 109,424,051 (GRCm39) |
D105G |
probably benign |
Het |
| Fndc3a |
A |
G |
14: 72,802,133 (GRCm39) |
F557L |
probably benign |
Het |
| Gm28042 |
C |
T |
2: 119,869,462 (GRCm39) |
L609F |
probably damaging |
Het |
| Gsap |
A |
G |
5: 21,458,434 (GRCm39) |
I473V |
probably damaging |
Het |
| Jag1 |
A |
T |
2: 136,930,354 (GRCm39) |
M730K |
probably benign |
Het |
| Kazald1 |
A |
T |
19: 45,065,211 (GRCm39) |
T31S |
probably benign |
Het |
| Ldhb |
A |
G |
6: 142,439,935 (GRCm39) |
W202R |
probably damaging |
Het |
| Lrrcc1 |
C |
T |
3: 14,615,489 (GRCm39) |
Q528* |
probably null |
Het |
| Magi2 |
A |
T |
5: 20,733,305 (GRCm39) |
K525I |
possibly damaging |
Het |
| Map2 |
A |
G |
1: 66,453,218 (GRCm39) |
I703V |
probably damaging |
Het |
| Mdn1 |
A |
T |
4: 32,701,814 (GRCm39) |
M1516L |
probably damaging |
Het |
| Mpzl2 |
T |
A |
9: 44,958,583 (GRCm39) |
S186R |
probably benign |
Het |
| Mtif2 |
T |
C |
11: 29,483,951 (GRCm39) |
M208T |
probably benign |
Het |
| Myo3a |
T |
C |
2: 22,436,464 (GRCm39) |
V873A |
probably benign |
Het |
| Or10ac1 |
A |
C |
6: 42,515,583 (GRCm39) |
Y124* |
probably null |
Het |
| Or1j4 |
T |
A |
2: 36,740,143 (GRCm39) |
Y28* |
probably null |
Het |
| Or5d38 |
A |
G |
2: 87,955,123 (GRCm39) |
S69P |
probably damaging |
Het |
| Or5p6 |
T |
C |
7: 107,630,887 (GRCm39) |
Y221C |
probably damaging |
Het |
| Or8g51 |
A |
G |
9: 38,608,735 (GRCm39) |
F309S |
probably benign |
Het |
| Pgap4 |
A |
G |
4: 49,587,093 (GRCm39) |
V25A |
probably benign |
Het |
| Plod2 |
G |
T |
9: 92,424,380 (GRCm39) |
|
probably benign |
Het |
| Rgs14 |
A |
C |
13: 55,528,792 (GRCm39) |
D311A |
probably damaging |
Het |
| Rin1 |
C |
A |
19: 5,103,048 (GRCm39) |
P446T |
probably damaging |
Het |
| Ripor3 |
T |
C |
2: 167,822,835 (GRCm39) |
K909E |
possibly damaging |
Het |
| Rnf139 |
T |
C |
15: 58,771,685 (GRCm39) |
L570P |
probably damaging |
Het |
| Snx17 |
A |
G |
5: 31,355,026 (GRCm39) |
E347G |
probably damaging |
Het |
| Spaca1 |
A |
G |
4: 34,029,168 (GRCm39) |
S220P |
probably damaging |
Het |
| Spen |
G |
T |
4: 141,200,233 (GRCm39) |
T2798K |
|
Het |
| Tmem135 |
G |
C |
7: 88,797,186 (GRCm39) |
L357V |
probably benign |
Het |
| Trim63 |
G |
A |
4: 134,055,003 (GRCm39) |
|
probably benign |
Het |
| Trmt2a |
C |
A |
16: 18,067,722 (GRCm39) |
R132S |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,768,716 (GRCm39) |
E2952G |
unknown |
Het |
| Tyw1 |
G |
A |
5: 130,298,065 (GRCm39) |
R202Q |
probably damaging |
Het |
| Vmn1r211 |
A |
T |
13: 23,035,936 (GRCm39) |
F244I |
probably damaging |
Het |
| Vmn2r86 |
T |
G |
10: 130,289,677 (GRCm39) |
S73R |
probably benign |
Het |
| Wdr27 |
A |
G |
17: 15,152,846 (GRCm39) |
L87P |
probably damaging |
Het |
| Zfp148 |
A |
G |
16: 33,317,596 (GRCm39) |
N756S |
probably benign |
Het |
| Zfp57 |
G |
A |
17: 37,320,650 (GRCm39) |
R168H |
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 |
|
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 |
|
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'- CAATTCTTAGGCATGGGCATATG -3'
(R):5'- TGAGGATGTTACTCACCTTCGG -3'
Sequencing Primer
(F):5'- TGCACGGGTCTTACAAATACC -3'
(R):5'- GTGAGGGCCGTTTGGAGTTAAG -3'
|
| Posted On |
2021-12-30 |
Incidental Mutation