Incidental Mutation 'PIT4472001:Tpgs2'
| ID |
555891 |
| Institutional Source |
Beutler Lab
|
| 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 # |
PIT4472001 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
25260280-25301990 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 25301652 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 5
(T5M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000111484
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036619]
[ENSMUST00000097643]
[ENSMUST00000115817]
[ENSMUST00000148255]
[ENSMUST00000159605]
[ENSMUST00000160530]
[ENSMUST00000165400]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000036619
|
| SMART Domains |
Protein: ENSMUSP00000046227
Gene: ENSMUSG00000033632
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:KIAA1328
|
92 |
414 |
1.4e-154 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000097643
|
| SMART Domains |
Protein: ENSMUSP00000095248
Gene: ENSMUSG00000033632
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:KIAA1328
|
92 |
414 |
2.5e-154 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000115817
AA Change: T5M
PolyPhen 2
Score 0.767 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000111484
Gene: ENSMUSG00000024269
AA Change: T5M
| 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 benign
Transcript: ENSMUST00000148255
AA Change: T5M
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000122538
Gene: ENSMUSG00000024269
AA Change: T5M
| Domain | Start | End | E-Value | Type |
|---|
|
SMI1_KNR4
|
43 |
187 |
1.04e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159605
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160530
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165400
|
| SMART Domains |
Protein: ENSMUSP00000128437
Gene: ENSMUSG00000033632
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:KIAA1328
|
92 |
414 |
1.6e-160 |
PFAM |
|
| Coding Region Coverage |
- 1x: 93.7%
- 3x: 90.8%
- 10x: 84.2%
- 20x: 70.1%
|
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A4gnt |
C |
A |
9: 99,502,613 (GRCm39) |
P258T |
probably damaging |
Het |
| Arvcf |
T |
C |
16: 18,221,699 (GRCm39) |
V714A |
possibly damaging |
Het |
| Bcas3 |
A |
G |
11: 85,422,726 (GRCm39) |
I532V |
probably damaging |
Het |
| Cbr1 |
T |
A |
16: 93,406,692 (GRCm39) |
V136E |
probably damaging |
Het |
| Ccdc27 |
T |
C |
4: 154,126,184 (GRCm39) |
M102V |
unknown |
Het |
| Ccr1 |
T |
C |
9: 123,763,765 (GRCm39) |
Y255C |
probably damaging |
Het |
| Cd300e |
T |
A |
11: 114,945,336 (GRCm39) |
I153F |
possibly damaging |
Het |
| Chd7 |
C |
T |
4: 8,753,101 (GRCm39) |
L533F |
unknown |
Het |
| Cpvl |
A |
T |
6: 53,873,464 (GRCm39) |
F424Y |
possibly damaging |
Het |
| Cxcl16 |
C |
T |
11: 70,349,625 (GRCm39) |
G80R |
probably damaging |
Het |
| Cyp2g1 |
T |
C |
7: 26,513,619 (GRCm39) |
V186A |
probably benign |
Het |
| Cyp4f15 |
T |
A |
17: 32,921,798 (GRCm39) |
M490K |
probably damaging |
Het |
| D630045J12Rik |
A |
T |
6: 38,155,774 (GRCm39) |
V1160D |
probably damaging |
Het |
| Dennd2b |
G |
A |
7: 109,130,337 (GRCm39) |
A888V |
probably damaging |
Het |
| Fbn1 |
T |
C |
2: 125,148,421 (GRCm39) |
D2609G |
possibly damaging |
Het |
| Fgf5 |
T |
A |
5: 98,409,838 (GRCm39) |
V129E |
probably damaging |
Het |
| Fhl5 |
C |
A |
4: 25,211,194 (GRCm39) |
C166F |
probably damaging |
Het |
| Frem1 |
G |
A |
4: 82,890,374 (GRCm39) |
T1035I |
probably benign |
Het |
| Gcnt2 |
G |
A |
13: 41,071,413 (GRCm39) |
V19M |
probably benign |
Het |
| Gga1 |
C |
A |
15: 78,777,836 (GRCm39) |
A595D |
probably damaging |
Het |
| Gpaa1 |
C |
T |
15: 76,218,940 (GRCm39) |
T594I |
probably benign |
Het |
| Gskip |
C |
T |
12: 105,651,121 (GRCm39) |
|
probably benign |
Het |
| Ighv1-72 |
A |
G |
12: 115,721,620 (GRCm39) |
V112A |
probably damaging |
Het |
| Krt16 |
T |
A |
11: 100,138,732 (GRCm39) |
T185S |
probably benign |
Het |
| Lama1 |
T |
C |
17: 68,071,699 (GRCm39) |
V862A |
|
Het |
| Lats2 |
A |
C |
14: 57,936,814 (GRCm39) |
Y558* |
probably null |
Het |
| Mast4 |
G |
A |
13: 102,941,226 (GRCm39) |
T277M |
probably damaging |
Het |
| Mnx1 |
T |
C |
5: 29,679,105 (GRCm39) |
E326G |
unknown |
Het |
| Mtmr10 |
A |
G |
7: 63,983,106 (GRCm39) |
E471G |
probably benign |
Het |
| Or5p64 |
C |
T |
7: 107,855,310 (GRCm39) |
V12M |
possibly damaging |
Het |
| Otog |
G |
A |
7: 45,945,273 (GRCm39) |
V2177M |
probably damaging |
Het |
| Ovgp1 |
A |
G |
3: 105,894,306 (GRCm39) |
E693G |
unknown |
Het |
| Pclo |
T |
C |
5: 14,763,182 (GRCm39) |
M600T |
possibly damaging |
Het |
| Pdgfra |
T |
A |
5: 75,340,907 (GRCm39) |
M622K |
probably damaging |
Het |
| Pdxdc1 |
A |
G |
16: 13,663,209 (GRCm39) |
L428P |
probably damaging |
Het |
| Pfkfb4 |
T |
C |
9: 108,828,222 (GRCm39) |
Y86H |
probably benign |
Het |
| Pik3cg |
A |
G |
12: 32,254,983 (GRCm39) |
Y335H |
probably damaging |
Het |
| Podnl1 |
G |
A |
8: 84,854,477 (GRCm39) |
V150M |
|
Het |
| Pou4f3 |
A |
G |
18: 42,527,717 (GRCm39) |
M4V |
probably benign |
Het |
| Ppp1r13b |
G |
A |
12: 111,799,074 (GRCm39) |
R864C |
probably damaging |
Het |
| R3hdm4 |
A |
G |
10: 79,749,389 (GRCm39) |
|
probably null |
Het |
| Skil |
T |
A |
3: 31,152,381 (GRCm39) |
V301D |
probably damaging |
Het |
| Sptb |
G |
A |
12: 76,667,460 (GRCm39) |
T879M |
probably damaging |
Het |
| Strip1 |
G |
A |
3: 107,535,486 (GRCm39) |
A79V |
probably benign |
Het |
| Trim34a |
T |
A |
7: 103,897,155 (GRCm39) |
L73Q |
probably damaging |
Het |
| Trpv4 |
T |
A |
5: 114,764,984 (GRCm39) |
T677S |
probably damaging |
Het |
| Vmn2r23 |
A |
G |
6: 123,689,936 (GRCm39) |
T271A |
possibly damaging |
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 |
|
IGL02234:Tpgs2
|
APN |
18 |
25,282,301 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL02747:Tpgs2
|
APN |
18 |
25,272,202 (GRCm39) |
intron |
probably benign |
|
|
PIT4466001: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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CTTTCCTGGCCTGGATAGATTG -3'
(R):5'- CCTCAGGCGCTGAAAACTAC -3'
Sequencing Primer
(F):5'- TGGATAGATTGCCGCCTCC -3'
(R):5'- GGCGCTGAAAACTACAACTC -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation