Incidental Mutation 'R3766:Tubgcp5'
ID |
274707 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tubgcp5
|
Ensembl Gene |
ENSMUSG00000033790 |
Gene Name |
tubulin, gamma complex component 5 |
Synonyms |
GCP5, B130010C12Rik |
MMRRC Submission |
040743-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.967)
|
Stock # |
R3766 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
55443873-55481207 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 55480614 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 1018
(M1018K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000032627
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032627]
[ENSMUST00000205796]
[ENSMUST00000206133]
[ENSMUST00000206191]
|
AlphaFold |
Q8BKN5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000032627
AA Change: M1018K
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000032627 Gene: ENSMUSG00000033790 AA Change: M1018K
Domain | Start | End | E-Value | Type |
low complexity region
|
109 |
124 |
N/A |
INTRINSIC |
Pfam:Spc97_Spc98
|
273 |
942 |
1.2e-126 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205311
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000205796
AA Change: M955K
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000206133
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000206191
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206789
|
Meta Mutation Damage Score |
0.5877 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
Validation Efficiency |
98% (41/42) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aacs |
C |
T |
5: 125,583,326 (GRCm39) |
T294M |
probably damaging |
Het |
Brf2 |
G |
T |
8: 27,614,496 (GRCm39) |
T230N |
possibly damaging |
Het |
Ccne2 |
A |
G |
4: 11,199,293 (GRCm39) |
|
probably benign |
Het |
Crbn |
T |
C |
6: 106,771,987 (GRCm39) |
K106E |
possibly damaging |
Het |
Cttnbp2nl |
G |
A |
3: 104,912,117 (GRCm39) |
T589I |
probably benign |
Het |
Dock10 |
A |
G |
1: 80,514,643 (GRCm39) |
S1091P |
probably damaging |
Het |
Fh1 |
A |
G |
1: 175,442,316 (GRCm39) |
V178A |
probably damaging |
Het |
Fndc1 |
A |
G |
17: 8,003,253 (GRCm39) |
S111P |
probably damaging |
Het |
Frk |
A |
G |
10: 34,360,001 (GRCm39) |
M1V |
probably null |
Het |
Gm29394 |
C |
T |
15: 57,912,024 (GRCm39) |
|
probably benign |
Het |
Herc2 |
A |
G |
7: 55,813,572 (GRCm39) |
D2601G |
probably damaging |
Het |
Hspa13 |
T |
C |
16: 75,561,974 (GRCm39) |
D75G |
probably benign |
Het |
Itgav |
T |
C |
2: 83,632,229 (GRCm39) |
|
probably null |
Het |
Kif6 |
A |
T |
17: 50,065,671 (GRCm39) |
|
probably benign |
Het |
Lypla1 |
G |
A |
1: 4,911,201 (GRCm39) |
R104Q |
probably benign |
Het |
Map1b |
T |
C |
13: 99,570,595 (GRCm39) |
K709E |
unknown |
Het |
Or52l1 |
A |
T |
7: 104,830,088 (GRCm39) |
I159K |
probably damaging |
Het |
Or56b1b |
G |
A |
7: 108,164,402 (GRCm39) |
P200L |
probably benign |
Het |
Pcdhb16 |
A |
T |
18: 37,611,249 (GRCm39) |
K70* |
probably null |
Het |
Pex5l |
T |
G |
3: 33,061,327 (GRCm39) |
D174A |
probably benign |
Het |
Plac8l1 |
A |
T |
18: 42,313,460 (GRCm39) |
M94K |
probably benign |
Het |
Plxna1 |
T |
C |
6: 89,311,757 (GRCm39) |
|
probably benign |
Het |
Psg26 |
T |
C |
7: 18,208,996 (GRCm39) |
T471A |
probably benign |
Het |
Pus3 |
C |
A |
9: 35,477,968 (GRCm39) |
T400K |
probably benign |
Het |
Pxk |
T |
C |
14: 8,136,863 (GRCm38) |
|
probably benign |
Het |
Rapgef2 |
T |
C |
3: 78,996,057 (GRCm39) |
T569A |
probably benign |
Het |
Sall4 |
T |
C |
2: 168,597,964 (GRCm39) |
Q292R |
possibly damaging |
Het |
Slc18b1 |
A |
G |
10: 23,674,647 (GRCm39) |
D34G |
probably damaging |
Het |
Slc45a1 |
T |
C |
4: 150,722,517 (GRCm39) |
R456G |
probably damaging |
Het |
Sox13 |
T |
C |
1: 133,318,536 (GRCm39) |
R81G |
possibly damaging |
Het |
Spag9 |
A |
G |
11: 93,951,109 (GRCm39) |
|
probably benign |
Het |
Ston1 |
C |
T |
17: 88,942,788 (GRCm39) |
P65S |
probably damaging |
Het |
Tada2b |
A |
T |
5: 36,633,761 (GRCm39) |
D197E |
probably benign |
Het |
Tcim |
T |
A |
8: 24,928,765 (GRCm39) |
R50W |
probably damaging |
Het |
Tnpo3 |
T |
C |
6: 29,579,688 (GRCm39) |
D235G |
probably benign |
Het |
Trim59 |
A |
G |
3: 68,944,137 (GRCm39) |
V401A |
probably benign |
Het |
Trpm3 |
A |
C |
19: 22,425,741 (GRCm39) |
Q32P |
probably benign |
Het |
Ube2o |
A |
G |
11: 116,437,689 (GRCm39) |
|
probably benign |
Het |
Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
Uvrag |
G |
T |
7: 98,537,350 (GRCm39) |
S615* |
probably null |
Het |
Vmn2r6 |
T |
A |
3: 64,463,929 (GRCm39) |
I302L |
probably benign |
Het |
Vmn2r73 |
C |
T |
7: 85,521,198 (GRCm39) |
V257I |
probably benign |
Het |
|
Other mutations in Tubgcp5 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00969:Tubgcp5
|
APN |
7 |
55,456,343 (GRCm39) |
missense |
possibly damaging |
0.91 |
IGL01291:Tubgcp5
|
APN |
7 |
55,458,277 (GRCm39) |
missense |
possibly damaging |
0.83 |
IGL01343:Tubgcp5
|
APN |
7 |
55,445,779 (GRCm39) |
splice site |
probably benign |
|
IGL01597:Tubgcp5
|
APN |
7 |
55,456,580 (GRCm39) |
splice site |
probably benign |
|
IGL01688:Tubgcp5
|
APN |
7 |
55,464,766 (GRCm39) |
missense |
possibly damaging |
0.92 |
IGL01843:Tubgcp5
|
APN |
7 |
55,449,221 (GRCm39) |
missense |
probably benign |
0.02 |
IGL01950:Tubgcp5
|
APN |
7 |
55,455,836 (GRCm39) |
missense |
possibly damaging |
0.93 |
IGL01957:Tubgcp5
|
APN |
7 |
55,468,505 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02902:Tubgcp5
|
APN |
7 |
55,456,355 (GRCm39) |
nonsense |
probably null |
|
IGL03105:Tubgcp5
|
APN |
7 |
55,475,329 (GRCm39) |
missense |
probably damaging |
1.00 |
ANU05:Tubgcp5
|
UTSW |
7 |
55,458,277 (GRCm39) |
missense |
possibly damaging |
0.83 |
R0078:Tubgcp5
|
UTSW |
7 |
55,468,643 (GRCm39) |
missense |
probably damaging |
1.00 |
R0322:Tubgcp5
|
UTSW |
7 |
55,464,726 (GRCm39) |
missense |
probably damaging |
0.98 |
R0362:Tubgcp5
|
UTSW |
7 |
55,450,432 (GRCm39) |
missense |
probably damaging |
1.00 |
R0449:Tubgcp5
|
UTSW |
7 |
55,473,315 (GRCm39) |
missense |
probably benign |
|
R0488:Tubgcp5
|
UTSW |
7 |
55,479,086 (GRCm39) |
missense |
probably damaging |
0.96 |
R0853:Tubgcp5
|
UTSW |
7 |
55,464,599 (GRCm39) |
splice site |
probably benign |
|
R0885:Tubgcp5
|
UTSW |
7 |
55,455,803 (GRCm39) |
nonsense |
probably null |
|
R1483:Tubgcp5
|
UTSW |
7 |
55,475,455 (GRCm39) |
critical splice donor site |
probably null |
|
R1746:Tubgcp5
|
UTSW |
7 |
55,458,285 (GRCm39) |
missense |
probably benign |
0.05 |
R1766:Tubgcp5
|
UTSW |
7 |
55,464,768 (GRCm39) |
missense |
probably benign |
0.15 |
R2148:Tubgcp5
|
UTSW |
7 |
55,449,259 (GRCm39) |
missense |
probably damaging |
1.00 |
R2229:Tubgcp5
|
UTSW |
7 |
55,480,629 (GRCm39) |
missense |
probably damaging |
1.00 |
R4154:Tubgcp5
|
UTSW |
7 |
55,455,077 (GRCm39) |
missense |
probably benign |
0.01 |
R4838:Tubgcp5
|
UTSW |
7 |
55,443,933 (GRCm39) |
unclassified |
probably benign |
|
R4948:Tubgcp5
|
UTSW |
7 |
55,455,871 (GRCm39) |
missense |
probably benign |
0.00 |
R5110:Tubgcp5
|
UTSW |
7 |
55,458,385 (GRCm39) |
missense |
probably damaging |
0.96 |
R5347:Tubgcp5
|
UTSW |
7 |
55,473,433 (GRCm39) |
missense |
probably damaging |
1.00 |
R5417:Tubgcp5
|
UTSW |
7 |
55,475,409 (GRCm39) |
missense |
possibly damaging |
0.90 |
R5574:Tubgcp5
|
UTSW |
7 |
55,455,077 (GRCm39) |
missense |
probably benign |
0.01 |
R5758:Tubgcp5
|
UTSW |
7 |
55,468,643 (GRCm39) |
missense |
probably damaging |
1.00 |
R5957:Tubgcp5
|
UTSW |
7 |
55,464,710 (GRCm39) |
missense |
probably benign |
0.03 |
R6014:Tubgcp5
|
UTSW |
7 |
55,473,357 (GRCm39) |
missense |
probably benign |
|
R6141:Tubgcp5
|
UTSW |
7 |
55,456,526 (GRCm39) |
missense |
probably benign |
0.30 |
R6289:Tubgcp5
|
UTSW |
7 |
55,445,671 (GRCm39) |
missense |
probably benign |
0.05 |
R6511:Tubgcp5
|
UTSW |
7 |
55,467,140 (GRCm39) |
nonsense |
probably null |
|
R6563:Tubgcp5
|
UTSW |
7 |
55,475,409 (GRCm39) |
missense |
possibly damaging |
0.90 |
R6574:Tubgcp5
|
UTSW |
7 |
55,473,331 (GRCm39) |
missense |
probably benign |
|
R6596:Tubgcp5
|
UTSW |
7 |
55,456,382 (GRCm39) |
missense |
probably benign |
0.38 |
R7016:Tubgcp5
|
UTSW |
7 |
55,443,977 (GRCm39) |
missense |
possibly damaging |
0.76 |
R7038:Tubgcp5
|
UTSW |
7 |
55,455,114 (GRCm39) |
missense |
probably damaging |
0.99 |
R7075:Tubgcp5
|
UTSW |
7 |
55,479,155 (GRCm39) |
missense |
probably benign |
0.04 |
R7083:Tubgcp5
|
UTSW |
7 |
55,450,443 (GRCm39) |
nonsense |
probably null |
|
R7213:Tubgcp5
|
UTSW |
7 |
55,455,860 (GRCm39) |
missense |
probably damaging |
0.97 |
R7284:Tubgcp5
|
UTSW |
7 |
55,473,315 (GRCm39) |
missense |
probably benign |
|
R7600:Tubgcp5
|
UTSW |
7 |
55,458,261 (GRCm39) |
missense |
probably benign |
|
R7813:Tubgcp5
|
UTSW |
7 |
55,450,444 (GRCm39) |
missense |
possibly damaging |
0.49 |
R7920:Tubgcp5
|
UTSW |
7 |
55,466,310 (GRCm39) |
missense |
probably benign |
0.00 |
R7948:Tubgcp5
|
UTSW |
7 |
55,443,996 (GRCm39) |
missense |
probably benign |
0.01 |
R8438:Tubgcp5
|
UTSW |
7 |
55,454,363 (GRCm39) |
missense |
possibly damaging |
0.67 |
R8499:Tubgcp5
|
UTSW |
7 |
55,454,363 (GRCm39) |
missense |
possibly damaging |
0.67 |
R9087:Tubgcp5
|
UTSW |
7 |
55,467,106 (GRCm39) |
missense |
probably damaging |
1.00 |
R9211:Tubgcp5
|
UTSW |
7 |
55,456,331 (GRCm39) |
missense |
probably benign |
0.05 |
R9269:Tubgcp5
|
UTSW |
7 |
55,445,693 (GRCm39) |
missense |
possibly damaging |
0.94 |
R9329:Tubgcp5
|
UTSW |
7 |
55,479,181 (GRCm39) |
critical splice donor site |
probably null |
|
R9355:Tubgcp5
|
UTSW |
7 |
55,467,177 (GRCm39) |
critical splice donor site |
probably null |
|
R9498:Tubgcp5
|
UTSW |
7 |
55,463,233 (GRCm39) |
missense |
possibly damaging |
0.46 |
R9687:Tubgcp5
|
UTSW |
7 |
55,475,327 (GRCm39) |
critical splice acceptor site |
probably null |
|
Z1088:Tubgcp5
|
UTSW |
7 |
55,464,849 (GRCm39) |
missense |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- TACTGTGTTCAATGGAAGGCTTTT -3'
(R):5'- CCAGGATAGTGAAATCTAAGACAATTT -3'
Sequencing Primer
(F):5'- TTCTGAGTTCAAGGACAGCC -3'
(R):5'- TTCTGAGCACCAGGTATGTAC -3'
|
Posted On |
2015-04-02 |