Incidental Mutation 'IGL01688:Tubgcp5'
| ID |
104021 |
| 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: 0.968)
|
| Stock # |
IGL01688
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
55443873-55481207 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 55464766 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 549
(V549A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146111
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032627]
[ENSMUST00000205796]
[ENSMUST00000206191]
|
| AlphaFold |
Q8BKN5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000032627
AA Change: V549A
PolyPhen 2
Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000032627
Gene: ENSMUSG00000033790
AA Change: V549A
| 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 |
possibly damaging
Transcript: ENSMUST00000205796
AA Change: V549A
PolyPhen 2
Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206191
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206789
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700113H08Rik |
T |
C |
10: 87,000,985 (GRCm39) |
L59P |
probably damaging |
Het |
| Ccin |
A |
T |
4: 43,984,985 (GRCm39) |
E464V |
possibly damaging |
Het |
| Cfap58 |
A |
G |
19: 47,963,006 (GRCm39) |
D472G |
probably benign |
Het |
| Col28a1 |
C |
T |
6: 7,998,517 (GRCm39) |
E1131K |
probably damaging |
Het |
| Cpne2 |
A |
G |
8: 95,281,381 (GRCm39) |
T196A |
possibly damaging |
Het |
| Cul4a |
A |
T |
8: 13,196,571 (GRCm39) |
R742* |
probably null |
Het |
| Cyp21a1 |
T |
A |
17: 35,021,194 (GRCm39) |
I370F |
probably damaging |
Het |
| Ddx51 |
T |
C |
5: 110,803,513 (GRCm39) |
F332L |
probably benign |
Het |
| Gm8232 |
A |
G |
14: 44,671,179 (GRCm39) |
D29G |
unknown |
Het |
| Got1 |
A |
G |
19: 43,512,775 (GRCm39) |
|
probably null |
Het |
| Gpat4 |
A |
G |
8: 23,671,861 (GRCm39) |
I58T |
probably benign |
Het |
| Hdac3 |
T |
A |
18: 38,087,932 (GRCm39) |
D12V |
possibly damaging |
Het |
| Helb |
T |
C |
10: 119,944,885 (GRCm39) |
H217R |
probably damaging |
Het |
| Hpf1 |
A |
T |
8: 61,349,830 (GRCm39) |
I153L |
probably benign |
Het |
| Lgsn |
G |
A |
1: 31,243,486 (GRCm39) |
D523N |
probably damaging |
Het |
| Lrrc63 |
A |
G |
14: 75,322,422 (GRCm39) |
S561P |
possibly damaging |
Het |
| Myh6 |
G |
A |
14: 55,201,417 (GRCm39) |
T94I |
possibly damaging |
Het |
| Mzt2 |
T |
C |
16: 15,680,793 (GRCm39) |
|
probably benign |
Het |
| Ndufb5 |
T |
A |
3: 32,800,613 (GRCm39) |
L62* |
probably null |
Het |
| Nek1 |
A |
T |
8: 61,558,631 (GRCm39) |
R970* |
probably null |
Het |
| Nepro |
T |
C |
16: 44,556,369 (GRCm39) |
L509P |
probably damaging |
Het |
| Pank1 |
T |
A |
19: 34,818,252 (GRCm39) |
I96F |
probably damaging |
Het |
| Parp11 |
C |
A |
6: 127,448,569 (GRCm39) |
T62K |
probably benign |
Het |
| Pla2g2e |
T |
A |
4: 138,606,781 (GRCm39) |
|
probably benign |
Het |
| Plekha5 |
T |
A |
6: 140,515,115 (GRCm39) |
Y207N |
probably damaging |
Het |
| Pomt2 |
T |
A |
12: 87,194,294 (GRCm39) |
I37F |
probably benign |
Het |
| Prl6a1 |
T |
A |
13: 27,501,969 (GRCm39) |
V117E |
probably damaging |
Het |
| Prmt3 |
T |
A |
7: 49,498,480 (GRCm39) |
|
probably null |
Het |
| Rcor3 |
T |
A |
1: 191,807,900 (GRCm39) |
E20V |
probably damaging |
Het |
| Rere |
A |
G |
4: 150,702,893 (GRCm39) |
D1449G |
probably damaging |
Het |
| Ric1 |
T |
C |
19: 29,555,014 (GRCm39) |
V376A |
probably benign |
Het |
| Rims1 |
G |
A |
1: 22,467,764 (GRCm39) |
T873I |
probably benign |
Het |
| Rras2 |
T |
C |
7: 113,659,632 (GRCm39) |
D44G |
probably damaging |
Het |
| Sbk2 |
C |
T |
7: 4,960,716 (GRCm39) |
|
probably benign |
Het |
| Slit1 |
A |
G |
19: 41,717,545 (GRCm39) |
I73T |
probably damaging |
Het |
| Spice1 |
T |
A |
16: 44,205,073 (GRCm39) |
M793K |
probably benign |
Het |
| Suco |
T |
C |
1: 161,691,480 (GRCm39) |
|
probably null |
Het |
| Tarbp1 |
A |
T |
8: 127,174,290 (GRCm39) |
W839R |
probably damaging |
Het |
| Trpc4 |
T |
A |
3: 54,173,495 (GRCm39) |
|
probably benign |
Het |
| Ubap2 |
T |
A |
4: 41,226,308 (GRCm39) |
T182S |
probably benign |
Het |
| Wrn |
A |
C |
8: 33,800,730 (GRCm39) |
|
probably benign |
Het |
| Zc3h15 |
A |
G |
2: 83,492,536 (GRCm39) |
Y337C |
probably damaging |
Het |
| Zfp292 |
T |
A |
4: 34,807,855 (GRCm39) |
I1730F |
possibly damaging |
Het |
| Zfp609 |
A |
G |
9: 65,611,307 (GRCm39) |
V552A |
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 |
|
|
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 |
|
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 |
2014-01-21 |
Incidental Mutation