Incidental Mutation 'R0322:Tubgcp5'
ID |
25613 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tubgcp5
|
Ensembl Gene |
ENSMUSG00000033790 |
Gene Name |
tubulin, gamma complex component 5 |
Synonyms |
GCP5, B130010C12Rik |
MMRRC Submission |
038532-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.967)
|
Stock # |
R0322 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
55443873-55481207 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 55464726 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Serine
at position 536
(G536S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000146111
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032627]
[ENSMUST00000205796]
[ENSMUST00000206191]
|
AlphaFold |
Q8BKN5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000032627
AA Change: G536S
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000032627 Gene: ENSMUSG00000033790 AA Change: G536S
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: ENSMUST00000205718
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205779
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000205796
AA Change: G536S
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000206191
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206789
|
Meta Mutation Damage Score |
0.5187 |
Coding Region Coverage |
- 1x: 98.7%
- 3x: 97.5%
- 10x: 93.8%
- 20x: 84.3%
|
Validation Efficiency |
98% (58/59) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9130401M01Rik |
A |
T |
15: 57,888,768 (GRCm39) |
S275T |
possibly damaging |
Het |
Adam34 |
G |
T |
8: 44,104,958 (GRCm39) |
T229N |
probably benign |
Het |
Adgrb3 |
C |
A |
1: 25,260,829 (GRCm39) |
|
probably benign |
Het |
Ankhd1 |
T |
A |
18: 36,791,061 (GRCm39) |
Y2478* |
probably null |
Het |
Arl9 |
A |
G |
5: 77,155,037 (GRCm39) |
|
probably benign |
Het |
Bub1b |
G |
A |
2: 118,470,099 (GRCm39) |
|
probably benign |
Het |
Chl1 |
A |
T |
6: 103,678,844 (GRCm39) |
|
probably benign |
Het |
Cobl |
T |
A |
11: 12,217,072 (GRCm39) |
E465V |
probably damaging |
Het |
Cobll1 |
A |
T |
2: 64,932,442 (GRCm39) |
M520K |
possibly damaging |
Het |
Dll3 |
A |
G |
7: 27,995,793 (GRCm39) |
V336A |
possibly damaging |
Het |
Dnmbp |
T |
C |
19: 43,843,285 (GRCm39) |
H1193R |
probably damaging |
Het |
Fbxo43 |
T |
C |
15: 36,152,338 (GRCm39) |
|
probably benign |
Het |
Gart |
G |
A |
16: 91,419,925 (GRCm39) |
|
probably benign |
Het |
Gjc3 |
A |
T |
5: 137,955,760 (GRCm39) |
M175K |
possibly damaging |
Het |
Gpc5 |
T |
A |
14: 115,636,563 (GRCm39) |
N415K |
probably benign |
Het |
Idh2 |
C |
T |
7: 79,748,005 (GRCm39) |
A232T |
probably damaging |
Het |
Il7r |
A |
T |
15: 9,510,301 (GRCm39) |
F251I |
probably benign |
Het |
Insc |
A |
G |
7: 114,391,500 (GRCm39) |
E141G |
probably damaging |
Het |
Itm2c |
C |
T |
1: 85,834,751 (GRCm39) |
T160M |
probably damaging |
Het |
Mboat1 |
T |
C |
13: 30,416,063 (GRCm39) |
|
probably benign |
Het |
Mdm2 |
G |
T |
10: 117,538,109 (GRCm39) |
H96Q |
possibly damaging |
Het |
Mettl13 |
A |
G |
1: 162,371,745 (GRCm39) |
|
probably benign |
Het |
Mfsd4b3-ps |
T |
C |
10: 39,823,526 (GRCm39) |
N245D |
probably damaging |
Het |
Mroh2a |
C |
T |
1: 88,158,402 (GRCm39) |
R150* |
probably null |
Het |
Mtmr3 |
T |
C |
11: 4,437,505 (GRCm39) |
Y982C |
possibly damaging |
Het |
Mymk |
A |
T |
2: 26,957,418 (GRCm39) |
L66Q |
probably damaging |
Het |
Myo18a |
T |
C |
11: 77,720,626 (GRCm39) |
S767P |
probably damaging |
Het |
Ndufa8 |
T |
C |
2: 35,926,634 (GRCm39) |
D134G |
probably benign |
Het |
Noxa1 |
A |
G |
2: 24,982,566 (GRCm39) |
F83S |
probably damaging |
Het |
Npc1l1 |
T |
A |
11: 6,179,042 (GRCm39) |
I123L |
probably benign |
Het |
Ogdhl |
A |
G |
14: 32,059,534 (GRCm39) |
T394A |
probably benign |
Het |
Or4s2b |
T |
C |
2: 88,509,011 (GRCm39) |
S264P |
probably damaging |
Het |
Or5ae1 |
A |
G |
7: 84,565,521 (GRCm39) |
Y178C |
probably damaging |
Het |
Pcdh20 |
T |
C |
14: 88,706,383 (GRCm39) |
T306A |
probably benign |
Het |
Pcid2 |
G |
A |
8: 13,140,775 (GRCm39) |
|
probably benign |
Het |
Phyhip |
G |
A |
14: 70,700,836 (GRCm39) |
V108M |
possibly damaging |
Het |
Pnpla5 |
G |
T |
15: 84,004,920 (GRCm39) |
L144M |
probably damaging |
Het |
Psmb4 |
A |
G |
3: 94,793,402 (GRCm39) |
Y160H |
probably benign |
Het |
Riox2 |
A |
T |
16: 59,309,752 (GRCm39) |
K369* |
probably null |
Het |
Rnf26rt |
T |
C |
6: 76,473,401 (GRCm39) |
Y405C |
probably benign |
Het |
Sh3tc1 |
G |
A |
5: 35,863,905 (GRCm39) |
P761S |
possibly damaging |
Het |
Slc6a3 |
T |
A |
13: 73,709,045 (GRCm39) |
V323D |
possibly damaging |
Het |
Smg7 |
A |
G |
1: 152,725,624 (GRCm39) |
|
probably null |
Het |
Srrt |
G |
A |
5: 137,294,870 (GRCm39) |
R370C |
probably damaging |
Het |
Stc1 |
T |
C |
14: 69,266,858 (GRCm39) |
V7A |
probably benign |
Het |
Svep1 |
G |
T |
4: 58,057,996 (GRCm39) |
|
probably benign |
Het |
Tbpl2 |
A |
G |
2: 23,984,991 (GRCm39) |
V51A |
probably benign |
Het |
Tecr |
A |
G |
8: 84,298,872 (GRCm39) |
Y248H |
probably damaging |
Het |
Tenm3 |
A |
G |
8: 48,689,947 (GRCm39) |
|
probably benign |
Het |
Tia1 |
C |
T |
6: 86,397,369 (GRCm39) |
A114V |
probably damaging |
Het |
Tmprss11f |
A |
T |
5: 86,739,275 (GRCm39) |
M2K |
probably benign |
Het |
Tnfsf8 |
T |
C |
4: 63,752,403 (GRCm39) |
T221A |
probably damaging |
Het |
Tyr |
A |
T |
7: 87,142,125 (GRCm39) |
I145N |
probably benign |
Het |
Ubr4 |
T |
A |
4: 139,149,729 (GRCm39) |
V1809E |
probably damaging |
Het |
Vmn2r65 |
A |
T |
7: 84,595,756 (GRCm39) |
N309K |
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 |
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 |
R3766:Tubgcp5
|
UTSW |
7 |
55,480,614 (GRCm39) |
missense |
probably damaging |
0.98 |
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'- CTGCTCAACCCTAATTGCTCTGGTAAA -3'
(R):5'- AGAAGAAGCAGGCTGCTACCTCT -3'
Sequencing Primer
(F):5'- cttaccctctgagctatctcac -3'
(R):5'- GCTACCTCTGGCTGCTG -3'
|
Posted On |
2013-04-16 |