Incidental Mutation 'IGL03251:Tube1'
| ID |
414935 |
| 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: 0.939)
|
| Stock # |
IGL03251
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
39009972-39028538 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to A
at 39010977 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 |
noncoding transcript
Transcript: ENSMUST00000217214
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213459
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000213898
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000213237
|
| 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 |
|
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc6 |
T |
C |
7: 45,631,661 (GRCm39) |
|
probably benign |
Het |
| Cdkl2 |
A |
G |
5: 92,181,585 (GRCm39) |
I132T |
probably damaging |
Het |
| Ckap4 |
A |
T |
10: 84,364,469 (GRCm39) |
I198N |
probably damaging |
Het |
| Col6a3 |
C |
T |
1: 90,737,898 (GRCm39) |
R600H |
probably damaging |
Het |
| Dnah7a |
A |
G |
1: 53,686,433 (GRCm39) |
I239T |
probably benign |
Het |
| Ei24 |
A |
G |
9: 36,691,405 (GRCm39) |
*359R |
probably null |
Het |
| Elk3 |
A |
T |
10: 93,090,683 (GRCm39) |
|
probably null |
Het |
| Eps8l2 |
T |
A |
7: 140,922,875 (GRCm39) |
M46K |
probably damaging |
Het |
| Frem2 |
G |
T |
3: 53,479,729 (GRCm39) |
T1988N |
probably benign |
Het |
| Gm5431 |
T |
C |
11: 48,785,548 (GRCm39) |
K276E |
probably benign |
Het |
| Gm8220 |
T |
A |
14: 44,525,729 (GRCm39) |
C133S |
possibly damaging |
Het |
| Hectd2 |
T |
C |
19: 36,562,926 (GRCm39) |
L168P |
probably damaging |
Het |
| Hydin |
A |
T |
8: 111,217,228 (GRCm39) |
D1372V |
probably damaging |
Het |
| Isl1 |
T |
C |
13: 116,441,985 (GRCm39) |
S83G |
probably benign |
Het |
| Lrp1b |
A |
G |
2: 40,490,279 (GRCm39) |
I107T |
probably benign |
Het |
| Mlc1 |
A |
T |
15: 88,858,934 (GRCm39) |
V117D |
possibly damaging |
Het |
| Ndc1 |
A |
G |
4: 107,237,856 (GRCm39) |
E220G |
possibly damaging |
Het |
| Nlrp4b |
T |
A |
7: 10,448,427 (GRCm39) |
M210K |
probably benign |
Het |
| Or2z8 |
A |
T |
8: 72,811,920 (GRCm39) |
Y132F |
probably damaging |
Het |
| Plch1 |
T |
C |
3: 63,691,423 (GRCm39) |
E60G |
possibly damaging |
Het |
| Pld1 |
G |
A |
3: 28,142,814 (GRCm39) |
R674H |
probably benign |
Het |
| Ppp1r13l |
G |
A |
7: 19,102,794 (GRCm39) |
|
probably benign |
Het |
| Ppp2cb |
A |
T |
8: 34,100,679 (GRCm39) |
|
probably benign |
Het |
| Rchy1 |
G |
T |
5: 92,110,502 (GRCm39) |
A26D |
probably benign |
Het |
| Rrm1 |
T |
C |
7: 102,106,413 (GRCm39) |
F311L |
probably damaging |
Het |
| Scrn1 |
G |
A |
6: 54,525,322 (GRCm39) |
R16* |
probably null |
Het |
| Slc24a4 |
T |
C |
12: 102,189,084 (GRCm39) |
L173P |
probably damaging |
Het |
| Srgap1 |
T |
C |
10: 121,640,826 (GRCm39) |
|
probably null |
Het |
| Utp20 |
C |
T |
10: 88,653,188 (GRCm39) |
|
probably null |
Het |
| Vmn2r55 |
T |
C |
7: 12,405,120 (GRCm39) |
|
probably benign |
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 |
|
|
IGL01977:Tube1
|
APN |
10 |
39,011,041 (GRCm39) |
splice site |
probably benign |
|
|
IGL02437:Tube1
|
APN |
10 |
39,016,846 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2016-08-02 |
Incidental Mutation