Incidental Mutation 'IGL02234:Tpgs2'
| ID |
285866 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tpgs2
|
| Ensembl Gene |
ENSMUSG00000024269 |
| Gene Name |
tubulin polyglutamylase complex subunit 2 |
| Synonyms |
5730494M16Rik, 5730437P09Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02234
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
25260280-25301990 bp(-) (GRCm39) |
| Type of Mutation |
critical splice acceptor site |
| DNA Base Change (assembly) |
T to C
at 25282301 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122538
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000115817]
[ENSMUST00000148255]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000115817
|
| SMART Domains |
Protein: ENSMUSP00000111484
Gene: ENSMUSG00000024269
| Domain | Start | End | E-Value | Type |
|---|
|
SMI1_KNR4
|
43 |
187 |
1.04e-3 |
SMART |
|
low complexity region
|
253 |
264 |
N/A |
INTRINSIC |
|
low complexity region
|
271 |
293 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000148255
|
| SMART Domains |
Protein: ENSMUSP00000122538
Gene: ENSMUSG00000024269
| Domain | Start | End | E-Value | Type |
|---|
|
SMI1_KNR4
|
43 |
187 |
1.04e-3 |
SMART |
|
| 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 protein that is a component of the neuronal polyglutamylase complex, which plays a role in post-translational addition of glutamate residues to C-terminal tubulin tails. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2012]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
C |
T |
6: 121,645,179 (GRCm39) |
T1010M |
possibly damaging |
Het |
| Atr |
A |
G |
9: 95,829,303 (GRCm39) |
|
probably benign |
Het |
| Cdc42bpa |
A |
T |
1: 179,978,756 (GRCm39) |
K1585* |
probably null |
Het |
| Cdh19 |
T |
C |
1: 110,859,956 (GRCm39) |
D175G |
probably damaging |
Het |
| Celsr3 |
G |
T |
9: 108,707,159 (GRCm39) |
R1214L |
probably benign |
Het |
| Chchd1 |
T |
C |
14: 20,753,478 (GRCm39) |
|
probably null |
Het |
| Col4a1 |
T |
C |
8: 11,266,713 (GRCm39) |
K1165E |
probably damaging |
Het |
| Col6a4 |
A |
G |
9: 105,890,631 (GRCm39) |
F1888L |
possibly damaging |
Het |
| Csmd3 |
C |
A |
15: 47,811,512 (GRCm39) |
R1193L |
probably damaging |
Het |
| Cyp2d11 |
T |
A |
15: 82,274,340 (GRCm39) |
H347L |
probably benign |
Het |
| Cyp4f13 |
A |
G |
17: 33,143,748 (GRCm39) |
|
probably benign |
Het |
| Dop1b |
T |
C |
16: 93,549,039 (GRCm39) |
V193A |
probably benign |
Het |
| Dus4l |
T |
C |
12: 31,691,495 (GRCm39) |
|
probably benign |
Het |
| Epc1 |
G |
A |
18: 6,439,938 (GRCm39) |
H79Y |
probably damaging |
Het |
| Gm12588 |
T |
A |
11: 121,799,151 (GRCm39) |
|
|
Het |
| Gpr107 |
T |
C |
2: 31,067,845 (GRCm39) |
Y222H |
probably damaging |
Het |
| Gzmn |
C |
T |
14: 56,406,464 (GRCm39) |
|
probably null |
Het |
| Helq |
A |
G |
5: 100,944,336 (GRCm39) |
I258T |
possibly damaging |
Het |
| Hsp90ab1 |
T |
C |
17: 45,880,661 (GRCm39) |
K137R |
probably benign |
Het |
| Htr1f |
T |
A |
16: 64,746,430 (GRCm39) |
R287S |
probably damaging |
Het |
| Il20ra |
A |
C |
10: 19,625,018 (GRCm39) |
D99A |
probably damaging |
Het |
| Lpp |
C |
T |
16: 24,580,895 (GRCm39) |
R204W |
probably damaging |
Het |
| Mboat7 |
A |
G |
7: 3,694,350 (GRCm39) |
Y34H |
probably damaging |
Het |
| Mid2 |
T |
C |
X: 139,664,418 (GRCm39) |
S646P |
probably damaging |
Het |
| Msh6 |
T |
C |
17: 88,294,229 (GRCm39) |
S995P |
probably damaging |
Het |
| Mtmr10 |
A |
G |
7: 63,949,350 (GRCm39) |
I108V |
probably benign |
Het |
| Muc6 |
G |
A |
7: 141,226,842 (GRCm39) |
T1395M |
probably benign |
Het |
| Nlrp4f |
A |
G |
13: 65,342,302 (GRCm39) |
F448L |
probably damaging |
Het |
| Odc1 |
C |
A |
12: 17,598,621 (GRCm39) |
D220E |
possibly damaging |
Het |
| Or8k33 |
T |
C |
2: 86,383,610 (GRCm39) |
N286S |
probably damaging |
Het |
| Pax7 |
A |
G |
4: 139,555,901 (GRCm39) |
I189T |
probably damaging |
Het |
| Pcdh12 |
T |
A |
18: 38,416,588 (GRCm39) |
H179L |
probably damaging |
Het |
| Pcdh15 |
A |
T |
10: 74,467,694 (GRCm39) |
M1836L |
probably benign |
Het |
| Psmc5 |
T |
C |
11: 106,153,836 (GRCm39) |
V390A |
probably benign |
Het |
| Ror2 |
C |
T |
13: 53,264,764 (GRCm39) |
S764N |
probably damaging |
Het |
| Rpgrip1 |
A |
G |
14: 52,368,766 (GRCm39) |
|
probably benign |
Het |
| Sema5a |
C |
T |
15: 32,679,318 (GRCm39) |
R866C |
probably damaging |
Het |
| Stox2 |
A |
G |
8: 47,646,647 (GRCm39) |
F271S |
probably damaging |
Het |
| Ttll8 |
T |
A |
15: 88,798,252 (GRCm39) |
I828F |
possibly damaging |
Het |
| Vmn1r7 |
T |
C |
6: 57,001,537 (GRCm39) |
Y241C |
probably damaging |
Het |
| Zfp318 |
C |
T |
17: 46,707,736 (GRCm39) |
R265* |
probably null |
Het |
|
| Other mutations in Tpgs2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02160:Tpgs2
|
APN |
18 |
25,273,637 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL02184:Tpgs2
|
APN |
18 |
25,273,630 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02747:Tpgs2
|
APN |
18 |
25,272,202 (GRCm39) |
intron |
probably benign |
|
|
PIT4466001:Tpgs2
|
UTSW |
18 |
25,301,652 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
PIT4472001:Tpgs2
|
UTSW |
18 |
25,301,652 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R0004:Tpgs2
|
UTSW |
18 |
25,291,295 (GRCm39) |
splice site |
probably benign |
|
|
R0139:Tpgs2
|
UTSW |
18 |
25,282,242 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0898:Tpgs2
|
UTSW |
18 |
25,282,207 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1415:Tpgs2
|
UTSW |
18 |
25,301,610 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1590:Tpgs2
|
UTSW |
18 |
25,273,630 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1974:Tpgs2
|
UTSW |
18 |
25,273,593 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2144:Tpgs2
|
UTSW |
18 |
25,301,598 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4811:Tpgs2
|
UTSW |
18 |
25,262,897 (GRCm39) |
intron |
probably benign |
|
|
R4851:Tpgs2
|
UTSW |
18 |
25,284,305 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6386:Tpgs2
|
UTSW |
18 |
25,272,081 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R6564:Tpgs2
|
UTSW |
18 |
25,291,344 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6788:Tpgs2
|
UTSW |
18 |
25,262,927 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7112:Tpgs2
|
UTSW |
18 |
25,282,194 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7824:Tpgs2
|
UTSW |
18 |
25,262,922 (GRCm39) |
missense |
probably benign |
|
|
R8722:Tpgs2
|
UTSW |
18 |
25,274,679 (GRCm39) |
missense |
probably benign |
0.17 |
|
R8808:Tpgs2
|
UTSW |
18 |
25,284,275 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8818:Tpgs2
|
UTSW |
18 |
25,291,365 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9009:Tpgs2
|
UTSW |
18 |
25,301,777 (GRCm39) |
unclassified |
probably benign |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation