Incidental Mutation 'IGL02902:Tubgcp5'
ID |
363654 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Tubgcp5
|
Ensembl Gene |
ENSMUSG00000033790 |
Gene Name |
tubulin, gamma complex component 5 |
Synonyms |
GCP5, B130010C12Rik |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.967)
|
Stock # |
IGL02902
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
55443873-55481207 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
C to T
at 55456355 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Stop codon
at position 316
(Q316*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000146111
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032627]
[ENSMUST00000205796]
[ENSMUST00000206191]
|
AlphaFold |
Q8BKN5 |
Predicted Effect |
probably null
Transcript: ENSMUST00000032627
AA Change: Q316*
|
SMART Domains |
Protein: ENSMUSP00000032627 Gene: ENSMUSG00000033790 AA Change: Q316*
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: ENSMUST00000205779
|
Predicted Effect |
probably null
Transcript: ENSMUST00000205796
AA Change: Q316*
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000206191
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206660
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206789
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2810459M11Rik |
G |
T |
1: 85,974,087 (GRCm39) |
V135F |
possibly damaging |
Het |
Aatk |
T |
C |
11: 119,902,603 (GRCm39) |
T541A |
probably benign |
Het |
Abcc1 |
T |
C |
16: 14,240,991 (GRCm39) |
L516P |
probably damaging |
Het |
Actl6a |
T |
A |
3: 32,776,791 (GRCm39) |
V350E |
possibly damaging |
Het |
Afm |
A |
G |
5: 90,674,222 (GRCm39) |
K245E |
possibly damaging |
Het |
Agr3 |
T |
C |
12: 35,996,915 (GRCm39) |
V63A |
probably damaging |
Het |
Arhgef28 |
A |
T |
13: 98,083,383 (GRCm39) |
M1162K |
probably damaging |
Het |
Casq2 |
T |
A |
3: 101,994,113 (GRCm39) |
C53* |
probably null |
Het |
Ccdc181 |
T |
C |
1: 164,107,470 (GRCm39) |
V51A |
probably benign |
Het |
Cd101 |
A |
G |
3: 100,926,310 (GRCm39) |
|
probably benign |
Het |
Csdc2 |
T |
C |
15: 81,832,801 (GRCm39) |
V69A |
probably benign |
Het |
Cyp2c23 |
A |
T |
19: 44,009,997 (GRCm39) |
|
probably benign |
Het |
Dnph1 |
A |
G |
17: 46,809,427 (GRCm39) |
|
probably benign |
Het |
Egf |
T |
C |
3: 129,474,796 (GRCm39) |
T1124A |
probably benign |
Het |
Gpr45 |
A |
G |
1: 43,072,371 (GRCm39) |
E338G |
possibly damaging |
Het |
Grb14 |
A |
C |
2: 64,768,762 (GRCm39) |
L98R |
probably damaging |
Het |
Gucy1a1 |
T |
C |
3: 82,026,224 (GRCm39) |
S77G |
possibly damaging |
Het |
Helb |
A |
G |
10: 119,925,390 (GRCm39) |
S996P |
probably benign |
Het |
Huwe1 |
A |
G |
X: 150,669,762 (GRCm39) |
E1405G |
probably damaging |
Het |
Ifi47 |
T |
C |
11: 48,986,617 (GRCm39) |
I128T |
probably benign |
Het |
Ift140 |
T |
A |
17: 25,309,736 (GRCm39) |
Y1089N |
probably damaging |
Het |
Ift56 |
A |
C |
6: 38,402,097 (GRCm39) |
S530R |
probably benign |
Het |
Il1r1 |
A |
T |
1: 40,341,569 (GRCm39) |
H324L |
probably benign |
Het |
Irx1 |
C |
T |
13: 72,107,974 (GRCm39) |
R236H |
probably benign |
Het |
Itpr3 |
T |
C |
17: 27,323,530 (GRCm39) |
V1185A |
probably benign |
Het |
Kif19a |
T |
C |
11: 114,676,396 (GRCm39) |
V450A |
possibly damaging |
Het |
Krtap21-1 |
G |
T |
16: 89,200,446 (GRCm39) |
Y65* |
probably null |
Het |
Ltn1 |
A |
T |
16: 87,176,693 (GRCm39) |
N1704K |
possibly damaging |
Het |
Med1 |
T |
C |
11: 98,047,335 (GRCm39) |
|
probably benign |
Het |
Meis2 |
T |
A |
2: 115,893,804 (GRCm39) |
H36L |
probably damaging |
Het |
Mier2 |
T |
C |
10: 79,385,456 (GRCm39) |
N124S |
probably damaging |
Het |
Mmp20 |
A |
G |
9: 7,654,171 (GRCm39) |
|
probably null |
Het |
Muc4 |
A |
G |
16: 32,569,212 (GRCm39) |
T91A |
possibly damaging |
Het |
Myo3b |
T |
A |
2: 70,119,745 (GRCm39) |
V935E |
probably benign |
Het |
Ndufa7 |
T |
C |
17: 34,048,632 (GRCm39) |
|
probably benign |
Het |
Nipal1 |
A |
G |
5: 72,825,405 (GRCm39) |
E366G |
possibly damaging |
Het |
Nobox |
A |
T |
6: 43,282,617 (GRCm39) |
N263K |
probably benign |
Het |
Notch2 |
A |
G |
3: 98,018,890 (GRCm39) |
D684G |
probably damaging |
Het |
Odr4 |
C |
A |
1: 150,260,179 (GRCm39) |
|
probably null |
Het |
Or2t1 |
A |
G |
14: 14,328,789 (GRCm38) |
H226R |
probably benign |
Het |
Or4c12b |
T |
A |
2: 89,647,508 (GRCm39) |
Y273* |
probably null |
Het |
Or5p69 |
C |
A |
7: 107,967,336 (GRCm39) |
T213K |
probably damaging |
Het |
Or5w13 |
T |
C |
2: 87,523,344 (GRCm39) |
N294S |
probably damaging |
Het |
Or6aa1 |
T |
C |
7: 86,043,743 (GRCm39) |
|
probably benign |
Het |
Plau |
A |
C |
14: 20,889,965 (GRCm39) |
D270A |
possibly damaging |
Het |
Pof1b |
T |
C |
X: 111,558,809 (GRCm39) |
|
probably null |
Het |
Pramel23 |
A |
G |
4: 143,424,913 (GRCm39) |
C177R |
probably damaging |
Het |
Prtn3 |
A |
T |
10: 79,717,767 (GRCm39) |
|
probably null |
Het |
Ptges3 |
T |
A |
10: 127,904,616 (GRCm39) |
D26E |
probably benign |
Het |
Pxmp2 |
T |
C |
5: 110,429,160 (GRCm39) |
E99G |
probably benign |
Het |
Rasgef1a |
A |
G |
6: 118,060,068 (GRCm39) |
R106G |
probably benign |
Het |
Rnf208 |
T |
C |
2: 25,133,774 (GRCm39) |
V156A |
probably benign |
Het |
Rps6ka1 |
A |
T |
4: 133,599,292 (GRCm39) |
I45N |
possibly damaging |
Het |
Rps6ka4 |
C |
T |
19: 6,809,623 (GRCm39) |
|
probably null |
Het |
Rsbn1 |
G |
T |
3: 103,860,972 (GRCm39) |
C466F |
possibly damaging |
Het |
Shkbp1 |
A |
T |
7: 27,042,141 (GRCm39) |
C605S |
probably damaging |
Het |
Slc2a10 |
G |
A |
2: 165,360,142 (GRCm39) |
D531N |
probably benign |
Het |
Sox13 |
A |
G |
1: 133,317,204 (GRCm39) |
L143P |
probably damaging |
Het |
Stx2 |
C |
T |
5: 129,069,285 (GRCm39) |
R142Q |
probably damaging |
Het |
Tanc1 |
T |
A |
2: 59,623,431 (GRCm39) |
|
probably benign |
Het |
Ubc |
A |
G |
5: 125,463,293 (GRCm39) |
V678A |
probably benign |
Het |
Unc5d |
G |
A |
8: 29,365,634 (GRCm39) |
T117I |
probably damaging |
Het |
Vmn2r4 |
T |
C |
3: 64,314,337 (GRCm39) |
I126V |
probably benign |
Het |
Zfp410 |
T |
A |
12: 84,378,594 (GRCm39) |
|
probably null |
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 |
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 |
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 |
|
|
Posted On |
2015-12-18 |