Incidental Mutation 'IGL01977:Tube1'
ID |
181744 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Tube1
|
Ensembl Gene |
ENSMUSG00000019845 |
Gene Name |
tubulin, epsilon 1 |
Synonyms |
2310061K05Rik |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.932)
|
Stock # |
IGL01977
|
Quality Score |
|
Status
|
|
Chromosome |
10 |
Chromosomal Location |
39009972-39028538 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
G to A
at 39011041 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000150602
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019991]
[ENSMUST00000063204]
[ENSMUST00000124941]
[ENSMUST00000125042]
[ENSMUST00000134279]
[ENSMUST00000135785]
[ENSMUST00000139743]
[ENSMUST00000213459]
[ENSMUST00000149949]
|
AlphaFold |
Q9D6T1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000019991
|
SMART Domains |
Protein: ENSMUSP00000019991 Gene: ENSMUSG00000019845
Domain | Start | End | E-Value | Type |
Tubulin
|
55 |
277 |
1.08e-38 |
SMART |
Tubulin_C
|
279 |
414 |
9.81e-5 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000063204
|
SMART Domains |
Protein: ENSMUSP00000063508 Gene: ENSMUSG00000051736
Domain | Start | End | E-Value | Type |
Pfam:UPF0731
|
2 |
80 |
4.8e-49 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000124941
|
SMART Domains |
Protein: ENSMUSP00000123540 Gene: ENSMUSG00000051736
Domain | Start | End | E-Value | Type |
Pfam:UPF0731
|
2 |
80 |
4.8e-49 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000125042
|
SMART Domains |
Protein: ENSMUSP00000121708 Gene: ENSMUSG00000051736
Domain | Start | End | E-Value | Type |
Pfam:UPF0731
|
2 |
48 |
3.6e-21 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000134279
|
SMART Domains |
Protein: ENSMUSP00000118858 Gene: ENSMUSG00000051736
Domain | Start | End | E-Value | Type |
Pfam:UPF0731
|
2 |
80 |
4.8e-49 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000135785
|
SMART Domains |
Protein: ENSMUSP00000118928 Gene: ENSMUSG00000051736
Domain | Start | End | E-Value | Type |
Pfam:UPF0731
|
2 |
80 |
4.8e-49 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000139743
|
SMART Domains |
Protein: ENSMUSP00000118545 Gene: ENSMUSG00000051736
Domain | Start | End | E-Value | Type |
Pfam:UPF0731
|
3 |
80 |
4.6e-55 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154981
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000213459
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217214
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000213898
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000149949
|
SMART Domains |
Protein: ENSMUSP00000121946 Gene: ENSMUSG00000051736
Domain | Start | End | E-Value | Type |
Pfam:UPF0731
|
2 |
80 |
4.8e-49 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000213237
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the tubulin superfamily. This protein localizes to the centriolar sub-distal appendages that are associated with the older of the two centrioles after centrosome duplication. This protein plays a central role in organization of the microtubules during centriole duplication. A pseudogene of this gene is found on chromosome 5.[provided by RefSeq, Jan 2009]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca7 |
T |
A |
10: 79,841,986 (GRCm39) |
S1040T |
probably benign |
Het |
Adam25 |
T |
C |
8: 41,208,134 (GRCm39) |
Y467H |
probably benign |
Het |
Ank1 |
A |
G |
8: 23,605,449 (GRCm39) |
I1061V |
probably benign |
Het |
Anxa10 |
T |
C |
8: 62,529,348 (GRCm39) |
E123G |
probably damaging |
Het |
Arhgap35 |
G |
A |
7: 16,297,128 (GRCm39) |
L646F |
probably damaging |
Het |
Atp8b5 |
A |
G |
4: 43,320,590 (GRCm39) |
|
probably null |
Het |
Brap |
A |
G |
5: 121,816,910 (GRCm39) |
|
probably benign |
Het |
Carmil3 |
A |
G |
14: 55,730,993 (GRCm39) |
T87A |
probably damaging |
Het |
Ccdc172 |
A |
G |
19: 58,541,309 (GRCm39) |
D256G |
possibly damaging |
Het |
Cep350 |
C |
T |
1: 155,787,714 (GRCm39) |
A1375T |
probably benign |
Het |
Chrdl2 |
A |
T |
7: 99,671,263 (GRCm39) |
Q127L |
probably benign |
Het |
Cyp2c29 |
T |
C |
19: 39,279,341 (GRCm39) |
|
probably benign |
Het |
Ddi1 |
C |
A |
9: 6,266,226 (GRCm39) |
V48F |
probably benign |
Het |
Ddrgk1 |
C |
T |
2: 130,497,166 (GRCm39) |
|
probably benign |
Het |
Fastkd1 |
C |
T |
2: 69,524,932 (GRCm39) |
V626I |
possibly damaging |
Het |
Fgd5 |
A |
G |
6: 92,001,543 (GRCm39) |
T755A |
probably benign |
Het |
Fpgt |
G |
T |
3: 154,793,655 (GRCm39) |
T124K |
probably damaging |
Het |
Gnl2 |
G |
A |
4: 124,941,405 (GRCm39) |
|
probably null |
Het |
Got1 |
A |
T |
19: 43,504,284 (GRCm39) |
S46T |
probably benign |
Het |
Hbb-bt |
G |
T |
7: 103,463,070 (GRCm39) |
H3N |
probably benign |
Het |
Ikbke |
C |
T |
1: 131,199,838 (GRCm39) |
|
probably benign |
Het |
Il2rb |
A |
G |
15: 78,365,897 (GRCm39) |
S467P |
probably benign |
Het |
Kcnma1 |
A |
G |
14: 23,580,367 (GRCm39) |
|
probably benign |
Het |
Ltbp2 |
T |
C |
12: 84,876,973 (GRCm39) |
N391D |
probably damaging |
Het |
Npr3 |
A |
T |
15: 11,858,804 (GRCm39) |
I360N |
probably damaging |
Het |
Nradd |
G |
A |
9: 110,451,237 (GRCm39) |
P44S |
possibly damaging |
Het |
Or5m10 |
G |
T |
2: 85,717,711 (GRCm39) |
C189F |
probably damaging |
Het |
Or7h8 |
G |
A |
9: 20,123,755 (GRCm39) |
V37I |
possibly damaging |
Het |
Pcdh17 |
A |
G |
14: 84,770,537 (GRCm39) |
E1005G |
possibly damaging |
Het |
Pcdhb11 |
A |
G |
18: 37,555,344 (GRCm39) |
T225A |
possibly damaging |
Het |
Pja2 |
T |
C |
17: 64,604,821 (GRCm39) |
D454G |
probably benign |
Het |
Pon3 |
T |
C |
6: 5,221,670 (GRCm39) |
Y320C |
probably damaging |
Het |
Prl2a1 |
A |
G |
13: 27,990,261 (GRCm39) |
D70G |
probably damaging |
Het |
Proc |
T |
A |
18: 32,260,472 (GRCm39) |
T218S |
probably benign |
Het |
Proz |
G |
T |
8: 13,116,913 (GRCm39) |
G155V |
probably damaging |
Het |
Rab11fip3 |
T |
C |
17: 26,286,977 (GRCm39) |
E392G |
possibly damaging |
Het |
Rab3gap2 |
C |
T |
1: 184,999,220 (GRCm39) |
R976* |
probably null |
Het |
Shisa2 |
G |
A |
14: 59,867,435 (GRCm39) |
C229Y |
probably damaging |
Het |
Slc2a5 |
T |
C |
4: 150,226,675 (GRCm39) |
V379A |
probably damaging |
Het |
Slc31a2 |
A |
T |
4: 62,214,197 (GRCm39) |
K47N |
probably damaging |
Het |
Sult2a6 |
G |
A |
7: 13,987,411 (GRCm39) |
T88I |
probably benign |
Het |
Tbc1d14 |
T |
C |
5: 36,662,381 (GRCm39) |
Y302C |
probably damaging |
Het |
Thumpd3 |
C |
A |
6: 113,036,927 (GRCm39) |
N275K |
possibly damaging |
Het |
Tnks2 |
T |
C |
19: 36,849,990 (GRCm39) |
|
probably null |
Het |
Umodl1 |
T |
A |
17: 31,192,742 (GRCm39) |
Y290N |
probably damaging |
Het |
Usp34 |
G |
A |
11: 23,402,661 (GRCm39) |
E726K |
probably damaging |
Het |
Vmn2r84 |
T |
A |
10: 130,229,935 (GRCm39) |
D59V |
probably benign |
Het |
Vps11 |
T |
A |
9: 44,267,516 (GRCm39) |
|
probably benign |
Het |
Wdr19 |
T |
C |
5: 65,385,912 (GRCm39) |
Y631H |
probably benign |
Het |
Wdr62 |
G |
A |
7: 29,957,526 (GRCm39) |
H88Y |
probably damaging |
Het |
Wdr93 |
A |
T |
7: 79,402,253 (GRCm39) |
N184I |
probably damaging |
Het |
Wnk4 |
T |
A |
11: 101,156,240 (GRCm39) |
F473Y |
probably damaging |
Het |
Zbtb16 |
A |
G |
9: 48,568,483 (GRCm39) |
W661R |
probably damaging |
Het |
|
Other mutations in Tube1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01457:Tube1
|
APN |
10 |
39,021,718 (GRCm39) |
splice site |
probably benign |
|
IGL02437:Tube1
|
APN |
10 |
39,016,846 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03251:Tube1
|
APN |
10 |
39,010,977 (GRCm39) |
splice site |
probably benign |
|
R0145:Tube1
|
UTSW |
10 |
39,021,598 (GRCm39) |
missense |
possibly damaging |
0.89 |
R0544:Tube1
|
UTSW |
10 |
39,016,941 (GRCm39) |
splice site |
probably null |
|
R0834:Tube1
|
UTSW |
10 |
39,010,168 (GRCm39) |
splice site |
probably null |
|
R1251:Tube1
|
UTSW |
10 |
39,010,204 (GRCm39) |
nonsense |
probably null |
|
R1557:Tube1
|
UTSW |
10 |
39,021,711 (GRCm39) |
critical splice donor site |
probably null |
|
R1607:Tube1
|
UTSW |
10 |
39,020,762 (GRCm39) |
missense |
possibly damaging |
0.89 |
R2138:Tube1
|
UTSW |
10 |
39,023,347 (GRCm39) |
missense |
probably benign |
0.04 |
R2367:Tube1
|
UTSW |
10 |
39,020,915 (GRCm39) |
missense |
probably damaging |
1.00 |
R4209:Tube1
|
UTSW |
10 |
39,020,930 (GRCm39) |
splice site |
probably null |
|
R4646:Tube1
|
UTSW |
10 |
39,018,363 (GRCm39) |
missense |
possibly damaging |
0.63 |
R4840:Tube1
|
UTSW |
10 |
39,020,842 (GRCm39) |
missense |
probably benign |
0.06 |
R5267:Tube1
|
UTSW |
10 |
39,020,552 (GRCm39) |
missense |
probably benign |
0.00 |
R6331:Tube1
|
UTSW |
10 |
39,010,097 (GRCm39) |
missense |
probably benign |
0.01 |
R7602:Tube1
|
UTSW |
10 |
39,018,262 (GRCm39) |
missense |
probably benign |
0.33 |
R7778:Tube1
|
UTSW |
10 |
39,018,294 (GRCm39) |
missense |
probably benign |
0.25 |
R7824:Tube1
|
UTSW |
10 |
39,018,294 (GRCm39) |
missense |
probably benign |
0.25 |
R8218:Tube1
|
UTSW |
10 |
39,023,375 (GRCm39) |
missense |
possibly damaging |
0.78 |
R8412:Tube1
|
UTSW |
10 |
39,021,657 (GRCm39) |
missense |
possibly damaging |
0.95 |
R9039:Tube1
|
UTSW |
10 |
39,011,017 (GRCm39) |
missense |
probably damaging |
1.00 |
X0023:Tube1
|
UTSW |
10 |
39,020,758 (GRCm39) |
missense |
probably benign |
0.00 |
Z1177:Tube1
|
UTSW |
10 |
39,025,453 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
Posted On |
2014-05-07 |