Incidental Mutation 'R2367:Tube1'
| ID |
246377 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tube1
|
| Ensembl Gene |
ENSMUSG00000019845 |
| Gene Name |
tubulin, epsilon 1 |
| Synonyms |
2310061K05Rik |
| MMRRC Submission |
040348-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.932)
|
| Stock # |
R2367 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
39009972-39028538 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 39020915 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 267
(L267P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000019991
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019991]
[ENSMUST00000213459]
|
| AlphaFold |
Q9D6T1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000019991
AA Change: L267P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000019991
Gene: ENSMUSG00000019845
AA Change: L267P
| Domain | Start | End | E-Value | Type |
|---|
|
Tubulin
|
55 |
277 |
1.08e-38 |
SMART |
|
Tubulin_C
|
279 |
414 |
9.81e-5 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000213237
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213459
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000213898
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000214493
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217214
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.2%
|
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adipoq |
T |
C |
16: 22,974,069 (GRCm39) |
V32A |
probably benign |
Het |
| Ceacam3 |
T |
C |
7: 16,885,813 (GRCm39) |
|
probably null |
Het |
| Cep250 |
G |
A |
2: 155,834,552 (GRCm39) |
R2159K |
probably damaging |
Het |
| Cfap46 |
C |
A |
7: 139,233,414 (GRCm39) |
V296F |
probably damaging |
Het |
| Ctdspl2 |
T |
C |
2: 121,817,499 (GRCm39) |
V182A |
probably benign |
Het |
| Cyp2c69 |
T |
C |
19: 39,866,038 (GRCm39) |
N185S |
probably benign |
Het |
| Daxx |
C |
T |
17: 34,130,821 (GRCm39) |
R279W |
probably benign |
Het |
| Dnajc28 |
G |
A |
16: 91,413,755 (GRCm39) |
T187M |
probably damaging |
Het |
| Fat3 |
G |
A |
9: 15,909,567 (GRCm39) |
S2145F |
probably damaging |
Het |
| Galnt13 |
A |
T |
2: 55,002,956 (GRCm39) |
M552L |
probably benign |
Het |
| Gstt2 |
C |
T |
10: 75,668,524 (GRCm39) |
G108S |
probably benign |
Het |
| Heatr1 |
T |
A |
13: 12,448,605 (GRCm39) |
L422Q |
probably damaging |
Het |
| Kntc1 |
C |
T |
5: 123,919,255 (GRCm39) |
L845F |
probably damaging |
Het |
| Krtap26-1 |
C |
A |
16: 88,444,213 (GRCm39) |
R136L |
probably benign |
Het |
| Mrgprb5 |
C |
T |
7: 47,818,347 (GRCm39) |
W129* |
probably null |
Het |
| Ms4a3 |
G |
A |
19: 11,607,108 (GRCm39) |
P186S |
probably benign |
Het |
| Myo15a |
T |
A |
11: 60,408,064 (GRCm39) |
M3184K |
probably damaging |
Het |
| Olig2 |
G |
A |
16: 91,023,454 (GRCm39) |
R56Q |
possibly damaging |
Het |
| Or8u9 |
T |
C |
2: 86,001,981 (GRCm39) |
Y60C |
probably damaging |
Het |
| Pgap3 |
C |
T |
11: 98,281,985 (GRCm39) |
|
probably null |
Het |
| Phgdh |
C |
G |
3: 98,221,612 (GRCm39) |
G440A |
probably benign |
Het |
| Scn1a |
T |
C |
2: 66,158,023 (GRCm39) |
Q450R |
probably damaging |
Het |
| Sema4d |
CGGGG |
CGGGGGGG |
13: 51,857,176 (GRCm39) |
|
probably benign |
Het |
| Sik1 |
C |
T |
17: 32,065,271 (GRCm39) |
V776I |
possibly damaging |
Het |
| Slc25a39 |
T |
A |
11: 102,294,477 (GRCm39) |
T316S |
possibly damaging |
Het |
| Slc38a10 |
C |
T |
11: 120,001,087 (GRCm39) |
E578K |
probably benign |
Het |
| Slc44a5 |
T |
A |
3: 153,953,446 (GRCm39) |
I276K |
possibly damaging |
Het |
| Smarcc2 |
A |
G |
10: 128,318,036 (GRCm39) |
T610A |
possibly damaging |
Het |
| Spag9 |
G |
A |
11: 94,007,583 (GRCm39) |
S1090N |
probably damaging |
Het |
| Tpr |
T |
C |
1: 150,309,479 (GRCm39) |
V277A |
probably damaging |
Het |
| Traf3ip1 |
T |
G |
1: 91,435,242 (GRCm39) |
S314A |
possibly damaging |
Het |
| Tril |
T |
A |
6: 53,796,151 (GRCm39) |
D357V |
probably damaging |
Het |
| Vmn1r11 |
A |
G |
6: 57,114,416 (GRCm39) |
I27V |
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 |
|
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 |
|
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'- GCCTCATTAACAGGATCTCACC -3'
(R):5'- TCTACAATGAGAGTGTTGACCAC -3'
Sequencing Primer
(F):5'- TTAACAGGATCTCACCCAGTATG -3'
(R):5'- TGTTGACCACAGAACACCCACTATG -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation