Incidental Mutation 'R1415:Tpgs2'
| ID |
159789 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tpgs2
|
| Ensembl Gene |
ENSMUSG00000024269 |
| Gene Name |
tubulin polyglutamylase complex subunit 2 |
| Synonyms |
5730494M16Rik, 5730437P09Rik |
| MMRRC Submission |
039471-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1415 (G1)
|
| Quality Score |
142 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
25260280-25301990 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 25301610 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Serine
at position 19
(L19S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122538
(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 |
probably damaging
Transcript: ENSMUST00000115817
AA Change: L19S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000111484
Gene: ENSMUSG00000024269
AA Change: L19S
| 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 damaging
Transcript: ENSMUST00000148255
AA Change: L19S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000122538
Gene: ENSMUSG00000024269
AA Change: L19S
| 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 |
noncoding transcript
Transcript: ENSMUST00000161262
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162149
|
| 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: 98.9%
- 3x: 98.0%
- 10x: 95.3%
- 20x: 89.6%
|
| 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: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acacb |
T |
C |
5: 114,303,982 (GRCm39) |
V135A |
probably benign |
Het |
| Adam21 |
C |
T |
12: 81,606,321 (GRCm39) |
W480* |
probably null |
Het |
| Ccdc71 |
T |
A |
9: 108,340,407 (GRCm39) |
Y73* |
probably null |
Het |
| Cfap44 |
T |
A |
16: 44,301,752 (GRCm39) |
I1830N |
probably damaging |
Het |
| Dnajb11 |
T |
C |
16: 22,689,371 (GRCm39) |
V264A |
probably benign |
Het |
| Fam135b |
T |
C |
15: 71,328,777 (GRCm39) |
E1174G |
probably damaging |
Het |
| Fam83e |
G |
A |
7: 45,376,135 (GRCm39) |
E283K |
probably damaging |
Het |
| Gigyf1 |
A |
G |
5: 137,517,478 (GRCm39) |
|
probably null |
Het |
| Letm1 |
A |
T |
5: 33,926,906 (GRCm39) |
N130K |
probably benign |
Het |
| Lrp1b |
T |
C |
2: 40,519,676 (GRCm39) |
Y137C |
probably damaging |
Het |
| Map3k2 |
A |
G |
18: 32,361,330 (GRCm39) |
I597V |
possibly damaging |
Het |
| Nek1 |
A |
G |
8: 61,542,720 (GRCm39) |
E770G |
probably benign |
Het |
| Or4d2b |
A |
C |
11: 87,780,473 (GRCm39) |
V83G |
possibly damaging |
Het |
| Or52n2b |
A |
G |
7: 104,565,543 (GRCm39) |
I320T |
probably benign |
Het |
| Pank2 |
T |
A |
2: 131,124,638 (GRCm39) |
Y68* |
probably null |
Het |
| Prl2c2 |
G |
C |
13: 13,176,786 (GRCm39) |
T47R |
probably damaging |
Het |
| Secisbp2l |
C |
A |
2: 125,582,285 (GRCm39) |
G1057V |
probably benign |
Het |
| Slc30a2 |
C |
T |
4: 134,076,660 (GRCm39) |
T265M |
probably damaging |
Het |
| Smarca2 |
A |
G |
19: 26,688,084 (GRCm39) |
E1239G |
probably null |
Het |
| Snx30 |
C |
T |
4: 59,879,261 (GRCm39) |
R167C |
probably damaging |
Het |
| Tmem26 |
T |
C |
10: 68,614,491 (GRCm39) |
F302S |
possibly damaging |
Het |
| Trp53bp1 |
T |
G |
2: 121,066,665 (GRCm39) |
E687A |
probably damaging |
Het |
| Ttc27 |
C |
T |
17: 75,046,667 (GRCm39) |
H243Y |
probably benign |
Het |
| Wdfy4 |
A |
T |
14: 32,763,137 (GRCm39) |
V2318D |
possibly damaging |
Het |
| Wdr59 |
G |
A |
8: 112,225,228 (GRCm39) |
P141S |
probably damaging |
Het |
| Zbed6 |
C |
T |
1: 133,585,556 (GRCm39) |
V594M |
possibly damaging |
Het |
| Zfp787 |
C |
A |
7: 6,135,694 (GRCm39) |
G186C |
probably 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 |
|
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 |
|
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'- TGCAAGGCAACCATCCTGGAAC -3'
(R):5'- TCTTGAAACAACCGCCACTGGAG -3'
Sequencing Primer
(F):5'- ACACTTTCCTGGCCTGGATAG -3'
(R):5'- AAGTGCCGCTGCCAAAG -3'
|
| Posted On |
2014-03-14 |
Incidental Mutation