Incidental Mutation 'R1251:Tube1'
| ID |
151766 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tube1
|
| Ensembl Gene |
ENSMUSG00000019845 |
| Gene Name |
tubulin, epsilon 1 |
| Synonyms |
2310061K05Rik |
| MMRRC Submission |
039318-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.932)
|
| Stock # |
R1251 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
39009972-39028538 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to T
at 39010204 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Stop codon
at position 10
(G10*)
|
| 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 null
Transcript: ENSMUST00000019991
AA Change: G10*
|
| SMART Domains |
Protein: ENSMUSP00000019991
Gene: ENSMUSG00000019845
AA Change: G10*
| 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 null
Transcript: ENSMUST00000213459
AA Change: G10*
|
| 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
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000213898
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217214
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 92.6%
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb10 |
C |
T |
8: 124,688,791 (GRCm39) |
G495D |
probably damaging |
Het |
| Acap2 |
A |
T |
16: 30,926,989 (GRCm39) |
Y509N |
probably damaging |
Het |
| Adcy9 |
T |
A |
16: 4,129,395 (GRCm39) |
E497V |
probably damaging |
Het |
| Bcat2 |
T |
G |
7: 45,225,410 (GRCm39) |
L56R |
probably damaging |
Het |
| Ccdc146 |
T |
C |
5: 21,498,370 (GRCm39) |
M952V |
probably benign |
Het |
| Ccdc39 |
T |
C |
3: 33,880,629 (GRCm39) |
K446R |
probably damaging |
Het |
| Cfap46 |
C |
T |
7: 139,181,181 (GRCm39) |
V2607I |
probably benign |
Het |
| Clec18a |
T |
C |
8: 111,808,270 (GRCm39) |
I54V |
possibly damaging |
Het |
| Coil |
A |
G |
11: 88,873,125 (GRCm39) |
E455G |
possibly damaging |
Het |
| Copg1 |
A |
T |
6: 87,866,989 (GRCm39) |
K75* |
probably null |
Het |
| Cyp2j12 |
G |
A |
4: 96,003,903 (GRCm39) |
Q238* |
probably null |
Het |
| Eif3i |
T |
C |
4: 129,487,178 (GRCm39) |
E229G |
probably damaging |
Het |
| Exoc2 |
T |
A |
13: 31,070,259 (GRCm39) |
N411Y |
probably benign |
Het |
| Eya2 |
T |
A |
2: 165,596,404 (GRCm39) |
M305K |
probably damaging |
Het |
| Faim |
C |
T |
9: 98,874,687 (GRCm39) |
T78M |
probably damaging |
Het |
| Fgg |
T |
A |
3: 82,920,287 (GRCm39) |
D355E |
probably benign |
Het |
| Foxn1 |
A |
G |
11: 78,249,611 (GRCm39) |
L638P |
probably damaging |
Het |
| Grid2ip |
A |
T |
5: 143,371,770 (GRCm39) |
E664D |
possibly damaging |
Het |
| Il1rn |
A |
G |
2: 24,235,582 (GRCm39) |
R21G |
probably damaging |
Het |
| Ilrun |
C |
T |
17: 28,005,044 (GRCm39) |
|
probably null |
Het |
| Inpp4b |
G |
A |
8: 82,617,382 (GRCm39) |
G220R |
probably benign |
Het |
| Irx6 |
A |
G |
8: 93,404,881 (GRCm39) |
S250G |
possibly damaging |
Het |
| Lyst |
T |
C |
13: 13,809,068 (GRCm39) |
I246T |
probably benign |
Het |
| Mcm3 |
G |
A |
1: 20,882,896 (GRCm39) |
Q353* |
probably null |
Het |
| Mfhas1 |
A |
G |
8: 36,058,207 (GRCm39) |
Y894C |
probably damaging |
Het |
| Mfsd13a |
T |
C |
19: 46,360,492 (GRCm39) |
L348P |
probably damaging |
Het |
| Necab1 |
A |
G |
4: 15,111,192 (GRCm39) |
|
probably null |
Het |
| Nectin3 |
A |
T |
16: 46,284,205 (GRCm39) |
S160T |
possibly damaging |
Het |
| Npc2 |
A |
G |
12: 84,807,658 (GRCm39) |
S67P |
probably damaging |
Het |
| Or5e1 |
T |
G |
7: 108,354,114 (GRCm39) |
F17C |
probably damaging |
Het |
| Or5m9b |
G |
A |
2: 85,905,164 (GRCm39) |
V27M |
probably benign |
Het |
| Pcnx3 |
A |
G |
19: 5,727,210 (GRCm39) |
F1108L |
probably benign |
Het |
| Phf21a |
G |
A |
2: 92,189,544 (GRCm39) |
S601N |
probably benign |
Het |
| Pold1 |
C |
T |
7: 44,184,475 (GRCm39) |
V842I |
probably benign |
Het |
| Rabgap1 |
A |
G |
2: 37,433,246 (GRCm39) |
|
probably null |
Het |
| Setd1a |
T |
A |
7: 127,396,596 (GRCm39) |
|
probably benign |
Het |
| Sgo2a |
A |
T |
1: 58,039,121 (GRCm39) |
|
probably null |
Het |
| Sult2a8 |
T |
A |
7: 14,159,350 (GRCm39) |
K90* |
probably null |
Het |
| Tlr2 |
T |
C |
3: 83,745,576 (GRCm39) |
D169G |
possibly damaging |
Het |
| Tmem95 |
A |
G |
11: 69,767,655 (GRCm39) |
F153S |
probably benign |
Het |
| Vmn2r10 |
T |
C |
5: 109,143,890 (GRCm39) |
M687V |
probably benign |
Het |
| Zc3h8 |
G |
A |
2: 128,777,289 (GRCm39) |
P117S |
probably benign |
Het |
| Zeb1 |
T |
A |
18: 5,705,089 (GRCm39) |
D18E |
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 |
|
|
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 |
|
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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACAAGGGCATTACGACATTGGCTAC -3'
(R):5'- CCTTCTGCCTGTGACTTACAGCAAC -3'
Sequencing Primer
(F):5'- ACGACATTGGCTACTTGCG -3'
(R):5'- cacagcaagtcccaggtcag -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation