Incidental Mutation 'R6883:Tuba4a'
| ID |
536874 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tuba4a
|
| Ensembl Gene |
ENSMUSG00000026202 |
| Gene Name |
tubulin, alpha 4A |
| Synonyms |
M[a]4, Tuba4 |
| MMRRC Submission |
044978-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.389)
|
| Stock # |
R6883 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
75190872-75196509 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 75194066 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 5
(S5P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140881
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027401]
[ENSMUST00000179573]
[ENSMUST00000180101]
[ENSMUST00000186213]
[ENSMUST00000186758]
[ENSMUST00000188460]
[ENSMUST00000188593]
[ENSMUST00000189131]
[ENSMUST00000189698]
[ENSMUST00000190717]
[ENSMUST00000191108]
|
| AlphaFold |
P68368 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027401
|
| SMART Domains |
Protein: ENSMUSP00000027401
Gene: ENSMUSG00000026201
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase
|
20 |
290 |
3.3e-47 |
PFAM |
|
Pfam:Pkinase_Tyr
|
21 |
290 |
3e-28 |
PFAM |
|
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000078429
Gene: ENSMUSG00000026202
AA Change: S34P
| Domain | Start | End | E-Value | Type |
|---|
|
Tubulin
|
49 |
246 |
4.34e-79 |
SMART |
|
Tubulin_C
|
248 |
393 |
7.88e-59 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000179573
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000180101
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000186213
AA Change: S6P
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000140657
Gene: ENSMUSG00000026202
AA Change: S6P
| Domain | Start | End | E-Value | Type |
|---|
|
Tubulin
|
49 |
246 |
4.34e-79 |
SMART |
|
Tubulin_C
|
248 |
393 |
7.88e-59 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000186758
|
| SMART Domains |
Protein: ENSMUSP00000140552
Gene: ENSMUSG00000026202
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tubulin
|
1 |
100 |
1.1e-22 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000186971
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000188460
|
| SMART Domains |
Protein: ENSMUSP00000139998
Gene: ENSMUSG00000026201
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
20 |
172 |
1e-2 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000188593
AA Change: S5P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000140881
Gene: ENSMUSG00000026202
AA Change: S5P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tubulin
|
2 |
75 |
2e-16 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000189131
|
| SMART Domains |
Protein: ENSMUSP00000140970
Gene: ENSMUSG00000026202
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tubulin
|
1 |
81 |
3.6e-15 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000189698
|
| SMART Domains |
Protein: ENSMUSP00000140329
Gene: ENSMUSG00000026201
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
20 |
203 |
1.1e-5 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000190717
|
| SMART Domains |
Protein: ENSMUSP00000141097
Gene: ENSMUSG00000026202
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tubulin
|
1 |
89 |
1.4e-18 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000191108
|
| SMART Domains |
Protein: ENSMUSP00000139846
Gene: ENSMUSG00000026201
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase
|
20 |
186 |
8.6e-29 |
PFAM |
|
Pfam:Pkinase_Tyr
|
21 |
184 |
2.1e-14 |
PFAM |
|
| Meta Mutation Damage Score |
0.8536 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.2%
|
| Validation Efficiency |
92% (45/49) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Microtubules of the eukaryotic cytoskeleton perform essential and diverse functions and are composed of a heterodimer of alpha and beta tubulin. The genes encoding these microtubule constituents are part of the tubulin superfamily, which is composed of six distinct families. Genes from the alpha, beta and gamma tubulin families are found in all eukaryotes. The alpha and beta tubulins represent the major components of microtubules, while gamma tubulin plays a critical role in the nucleation of microtubule assembly. There are multiple alpha and beta tubulin genes and they are highly conserved among and between species. This gene encodes an alpha tubulin that is a highly conserved homolog of a rat testis-specific alpha tubulin. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2013]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acaa1b |
A |
G |
9: 118,985,728 (GRCm39) |
S66P |
possibly damaging |
Het |
| Adh7 |
A |
T |
3: 137,929,825 (GRCm39) |
E167V |
probably damaging |
Het |
| Ano6 |
T |
C |
15: 95,859,992 (GRCm39) |
S705P |
probably damaging |
Het |
| Arpc1b |
T |
C |
5: 145,063,739 (GRCm39) |
V329A |
probably benign |
Het |
| Btla |
C |
T |
16: 45,063,092 (GRCm39) |
H152Y |
probably benign |
Het |
| Cadps |
T |
C |
14: 12,465,883 (GRCm38) |
E1009G |
probably damaging |
Het |
| Cttnbp2nl |
A |
G |
3: 104,918,507 (GRCm39) |
|
probably null |
Het |
| Cyp4a12a |
G |
T |
4: 115,159,221 (GRCm39) |
V164F |
probably damaging |
Het |
| Duox1 |
G |
T |
2: 122,155,065 (GRCm39) |
|
probably null |
Het |
| Fcgbpl1 |
A |
T |
7: 27,852,260 (GRCm39) |
H1261L |
possibly damaging |
Het |
| Fmo6 |
A |
G |
1: 162,757,461 (GRCm39) |
I104T |
probably damaging |
Het |
| Fnbp4 |
T |
C |
2: 90,576,172 (GRCm39) |
|
probably null |
Het |
| Garem1 |
T |
C |
18: 21,262,769 (GRCm39) |
T682A |
probably benign |
Het |
| Gm49358 |
A |
G |
10: 86,651,762 (GRCm39) |
E188G |
probably benign |
Het |
| Gm5773 |
T |
C |
3: 93,681,162 (GRCm39) |
I278T |
probably benign |
Het |
| Ifi27l2a |
A |
G |
12: 103,409,756 (GRCm39) |
|
probably benign |
Het |
| Inpp5d |
A |
C |
1: 87,627,412 (GRCm39) |
K308T |
probably damaging |
Het |
| Irf6 |
A |
T |
1: 192,849,774 (GRCm39) |
Y232F |
probably damaging |
Het |
| Kcnmb4 |
T |
C |
10: 116,309,248 (GRCm39) |
Q60R |
probably benign |
Het |
| Klri2 |
T |
C |
6: 129,709,985 (GRCm39) |
D205G |
probably benign |
Het |
| Mcm9 |
A |
T |
10: 53,492,110 (GRCm39) |
W352R |
probably damaging |
Het |
| Nat8 |
A |
G |
6: 85,807,650 (GRCm39) |
V161A |
possibly damaging |
Het |
| Nlrp9c |
A |
T |
7: 26,077,556 (GRCm39) |
M742K |
probably benign |
Het |
| Or10ag58 |
C |
A |
2: 87,265,623 (GRCm39) |
T264K |
probably damaging |
Het |
| Or13j1 |
T |
C |
4: 43,705,723 (GRCm39) |
T282A |
possibly damaging |
Het |
| Or5an10 |
C |
A |
19: 12,275,934 (GRCm39) |
Q187H |
probably damaging |
Het |
| Pcdha11 |
A |
T |
18: 37,144,242 (GRCm39) |
D111V |
probably damaging |
Het |
| Pcdhb6 |
A |
T |
18: 37,468,198 (GRCm39) |
D373V |
probably damaging |
Het |
| Pcolce2 |
A |
T |
9: 95,560,396 (GRCm39) |
|
probably null |
Het |
| Pik3cb |
T |
C |
9: 98,983,453 (GRCm39) |
M52V |
probably benign |
Het |
| Pipox |
T |
C |
11: 77,774,729 (GRCm39) |
E118G |
probably benign |
Het |
| Pou4f2 |
T |
C |
8: 79,162,307 (GRCm39) |
S99G |
probably benign |
Het |
| Ptpn12 |
T |
A |
5: 21,260,711 (GRCm39) |
Q12L |
probably benign |
Het |
| Sim2 |
G |
T |
16: 93,926,395 (GRCm39) |
A540S |
probably benign |
Het |
| Smg1 |
A |
T |
7: 117,767,403 (GRCm39) |
|
probably benign |
Het |
| Sntb1 |
A |
G |
15: 55,769,719 (GRCm39) |
V90A |
probably benign |
Het |
| Spns2 |
T |
C |
11: 72,347,196 (GRCm39) |
|
probably null |
Het |
| Syne1 |
G |
T |
10: 5,181,704 (GRCm39) |
C4210* |
probably null |
Het |
| Tek |
T |
C |
4: 94,725,426 (GRCm39) |
I564T |
possibly damaging |
Het |
| Tmem94 |
T |
G |
11: 115,687,287 (GRCm39) |
C1135W |
probably damaging |
Het |
| Tnxb |
T |
A |
17: 34,937,493 (GRCm39) |
D3827E |
probably damaging |
Het |
| Ttl |
A |
G |
2: 128,923,992 (GRCm39) |
D235G |
possibly damaging |
Het |
| Uaca |
T |
A |
9: 60,777,173 (GRCm39) |
V518D |
probably damaging |
Het |
| Unc80 |
A |
T |
1: 66,685,563 (GRCm39) |
Q2229L |
probably benign |
Het |
| Unkl |
C |
T |
17: 25,449,307 (GRCm39) |
A78V |
probably damaging |
Het |
| Uroc1 |
C |
T |
6: 90,315,574 (GRCm39) |
Q152* |
probably null |
Het |
| Vmn2r51 |
G |
T |
7: 9,834,025 (GRCm39) |
Q338K |
possibly damaging |
Het |
| Vps50 |
C |
T |
6: 3,498,513 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Tuba4a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01346:Tuba4a
|
APN |
1 |
75,193,921 (GRCm39) |
missense |
probably damaging |
1.00 |
|
andropov
|
UTSW |
1 |
75,194,038 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0453:Tuba4a
|
UTSW |
1 |
75,192,502 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0573:Tuba4a
|
UTSW |
1 |
75,193,017 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1488:Tuba4a
|
UTSW |
1 |
75,193,045 (GRCm39) |
missense |
probably benign |
0.08 |
|
R1660:Tuba4a
|
UTSW |
1 |
75,192,547 (GRCm39) |
missense |
probably benign |
0.35 |
|
R1836:Tuba4a
|
UTSW |
1 |
75,192,754 (GRCm39) |
missense |
probably benign |
0.20 |
|
R2012:Tuba4a
|
UTSW |
1 |
75,192,983 (GRCm39) |
nonsense |
probably null |
|
|
R2437:Tuba4a
|
UTSW |
1 |
75,194,069 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R4180:Tuba4a
|
UTSW |
1 |
75,192,426 (GRCm39) |
missense |
probably benign |
0.33 |
|
R5505:Tuba4a
|
UTSW |
1 |
75,193,060 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6137:Tuba4a
|
UTSW |
1 |
75,192,699 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6189:Tuba4a
|
UTSW |
1 |
75,193,518 (GRCm39) |
missense |
probably benign |
0.34 |
|
R6566:Tuba4a
|
UTSW |
1 |
75,193,930 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6837:Tuba4a
|
UTSW |
1 |
75,194,038 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7213:Tuba4a
|
UTSW |
1 |
75,192,341 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R7765:Tuba4a
|
UTSW |
1 |
75,193,003 (GRCm39) |
missense |
probably benign |
0.25 |
|
R8071:Tuba4a
|
UTSW |
1 |
75,193,595 (GRCm39) |
missense |
|
|
|
R8326:Tuba4a
|
UTSW |
1 |
75,195,265 (GRCm39) |
missense |
|
|
|
R8334:Tuba4a
|
UTSW |
1 |
75,193,945 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8941:Tuba4a
|
UTSW |
1 |
75,193,945 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9428:Tuba4a
|
UTSW |
1 |
75,192,686 (GRCm39) |
missense |
|
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGGCACATGTTTTCCAGCTC -3'
(R):5'- CTCTACTGAGAAGTAGGCTAAGGG -3'
Sequencing Primer
(F):5'- TTCCAGCTCCAGTTTCACAGAAG -3'
(R):5'- TGGCTACCTCCAGTCTGG -3'
|
| Posted On |
2018-10-18 |
Incidental Mutation