Incidental Mutation 'IGL03091:Tuba8'
| ID |
418392 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tuba8
|
| Ensembl Gene |
ENSMUSG00000030137 |
| Gene Name |
tubulin, alpha 8 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL03091
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
121187655-121203813 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 121197403 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 22
(E22K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032233
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032233]
|
| AlphaFold |
Q9JJZ2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000032233
AA Change: E22K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000032233
Gene: ENSMUSG00000030137
AA Change: E22K
| Domain | Start | End | E-Value | Type |
|---|
|
Tubulin
|
49 |
246 |
2.17e-79 |
SMART |
|
Tubulin_C
|
248 |
393 |
3.76e-56 |
SMART |
|
low complexity region
|
441 |
448 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124853
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a member of the tubulin family of cytoskeletal proteins that form the integral component of microtubules. This gene is preferentially expressed in heart, skeletal muscle and testis. The encoded protein may play a role in liver tumorigenesis in mice. [provided by RefSeq, Sep 2015]
PHENOTYPE: Mice homozygous for a knock-out allele appear neurologically normal, progress to adulthood and exhibit normal fertility. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ago1 |
A |
T |
4: 126,352,982 (GRCm39) |
Y314N |
probably damaging |
Het |
| Aknad1 |
A |
G |
3: 108,659,219 (GRCm39) |
T78A |
possibly damaging |
Het |
| Arhgap33 |
G |
A |
7: 30,227,718 (GRCm39) |
P494S |
probably damaging |
Het |
| Babam2 |
T |
A |
5: 31,943,022 (GRCm39) |
|
probably null |
Het |
| Ces2g |
T |
C |
8: 105,691,386 (GRCm39) |
V174A |
probably damaging |
Het |
| Chd1l |
G |
A |
3: 97,470,863 (GRCm39) |
R811C |
probably damaging |
Het |
| Crot |
A |
T |
5: 9,016,897 (GRCm39) |
H598Q |
probably benign |
Het |
| Dtx2 |
C |
T |
5: 136,041,228 (GRCm39) |
S211L |
probably damaging |
Het |
| Duox2 |
T |
G |
2: 122,119,955 (GRCm39) |
M852L |
probably benign |
Het |
| Fmc1 |
G |
T |
6: 38,516,170 (GRCm39) |
S72I |
probably damaging |
Het |
| Fut1 |
T |
C |
7: 45,268,951 (GRCm39) |
C302R |
probably damaging |
Het |
| Gm6401 |
T |
C |
14: 41,786,615 (GRCm39) |
T184A |
possibly damaging |
Het |
| Gsdma2 |
C |
T |
11: 98,542,828 (GRCm39) |
T29I |
probably damaging |
Het |
| Lgi2 |
C |
A |
5: 52,721,307 (GRCm39) |
|
probably null |
Het |
| Lipe |
A |
G |
7: 25,080,180 (GRCm39) |
L926P |
probably damaging |
Het |
| Lrp1 |
T |
A |
10: 127,394,993 (GRCm39) |
I2511F |
probably benign |
Het |
| Med10 |
T |
C |
13: 69,963,816 (GRCm39) |
|
probably benign |
Het |
| Nbea |
A |
G |
3: 55,992,725 (GRCm39) |
S294P |
probably damaging |
Het |
| Neb |
T |
A |
2: 52,161,324 (GRCm39) |
H2156L |
probably benign |
Het |
| Neo1 |
A |
T |
9: 58,885,951 (GRCm39) |
N335K |
probably damaging |
Het |
| Nox3 |
G |
T |
17: 3,716,119 (GRCm39) |
Q429K |
probably benign |
Het |
| Odad4 |
T |
A |
11: 100,441,076 (GRCm39) |
Y102* |
probably null |
Het |
| Pkd1l1 |
T |
C |
11: 8,805,564 (GRCm39) |
R1671G |
probably damaging |
Het |
| Plec |
T |
C |
15: 76,073,503 (GRCm39) |
T504A |
possibly damaging |
Het |
| Pou5f1 |
G |
T |
17: 35,820,939 (GRCm39) |
R127L |
probably benign |
Het |
| Prkdc |
T |
A |
16: 15,523,174 (GRCm39) |
|
probably benign |
Het |
| Rassf8 |
T |
A |
6: 145,761,536 (GRCm39) |
N287K |
probably benign |
Het |
| Rdh16 |
T |
C |
10: 127,649,502 (GRCm39) |
|
probably benign |
Het |
| Ryr1 |
G |
A |
7: 28,782,911 (GRCm39) |
A1901V |
possibly damaging |
Het |
| Scnn1g |
A |
G |
7: 121,345,906 (GRCm39) |
Y343C |
probably damaging |
Het |
| Sema5a |
A |
G |
15: 32,538,880 (GRCm39) |
|
probably benign |
Het |
| Slc9b2 |
G |
A |
3: 135,034,791 (GRCm39) |
V310M |
probably damaging |
Het |
| Stox2 |
T |
A |
8: 47,646,222 (GRCm39) |
I477F |
possibly damaging |
Het |
| Terb1 |
A |
T |
8: 105,195,786 (GRCm39) |
H548Q |
probably benign |
Het |
| Tsks |
G |
A |
7: 44,607,319 (GRCm39) |
M547I |
possibly damaging |
Het |
| Wee2 |
T |
C |
6: 40,438,968 (GRCm39) |
F364L |
probably benign |
Het |
| Zfp644 |
A |
G |
5: 106,784,724 (GRCm39) |
Y608H |
probably damaging |
Het |
|
| Other mutations in Tuba8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02043:Tuba8
|
APN |
6 |
121,197,470 (GRCm39) |
missense |
probably benign |
|
|
IGL02725:Tuba8
|
APN |
6 |
121,202,916 (GRCm39) |
nonsense |
probably null |
|
|
IGL03286:Tuba8
|
APN |
6 |
121,199,913 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R0032:Tuba8
|
UTSW |
6 |
121,202,863 (GRCm39) |
missense |
probably benign |
0.37 |
|
R1424:Tuba8
|
UTSW |
6 |
121,197,470 (GRCm39) |
missense |
probably benign |
|
|
R1624:Tuba8
|
UTSW |
6 |
121,197,385 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1741:Tuba8
|
UTSW |
6 |
121,199,727 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1985:Tuba8
|
UTSW |
6 |
121,197,479 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2513:Tuba8
|
UTSW |
6 |
121,202,932 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3160:Tuba8
|
UTSW |
6 |
121,199,697 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R3162:Tuba8
|
UTSW |
6 |
121,199,697 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R4074:Tuba8
|
UTSW |
6 |
121,199,756 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4875:Tuba8
|
UTSW |
6 |
121,203,042 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R4968:Tuba8
|
UTSW |
6 |
121,197,548 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5073:Tuba8
|
UTSW |
6 |
121,199,862 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5444:Tuba8
|
UTSW |
6 |
121,203,060 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R5546:Tuba8
|
UTSW |
6 |
121,199,872 (GRCm39) |
nonsense |
probably null |
|
|
R5594:Tuba8
|
UTSW |
6 |
121,202,863 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R5619:Tuba8
|
UTSW |
6 |
121,202,854 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7366:Tuba8
|
UTSW |
6 |
121,199,871 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7489:Tuba8
|
UTSW |
6 |
121,202,980 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7774:Tuba8
|
UTSW |
6 |
121,200,348 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8046:Tuba8
|
UTSW |
6 |
121,199,832 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8134:Tuba8
|
UTSW |
6 |
121,198,381 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8284:Tuba8
|
UTSW |
6 |
121,199,736 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9337:Tuba8
|
UTSW |
6 |
121,202,823 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9562:Tuba8
|
UTSW |
6 |
121,200,063 (GRCm39) |
missense |
probably benign |
0.25 |
|
R9565:Tuba8
|
UTSW |
6 |
121,200,063 (GRCm39) |
missense |
probably benign |
0.25 |
|
Z1177:Tuba8
|
UTSW |
6 |
121,200,298 (GRCm39) |
missense |
probably benign |
0.04 |
|
| Posted On |
2016-08-02 |
Incidental Mutation