Incidental Mutation 'R0885:Tubgcp5'
ID |
81153 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tubgcp5
|
Ensembl Gene |
ENSMUSG00000033790 |
Gene Name |
tubulin, gamma complex component 5 |
Synonyms |
GCP5, B130010C12Rik |
MMRRC Submission |
039052-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.967)
|
Stock # |
R0885 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
55443873-55481207 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
T to A
at 55455803 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Stop codon
at position 277
(L277*)
|
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: L277*
|
SMART Domains |
Protein: ENSMUSP00000032627 Gene: ENSMUSG00000033790 AA Change: L277*
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: L277*
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000206191
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206660
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206789
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 96.9%
- 20x: 92.9%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700020L13Rik |
T |
A |
7: 29,980,094 (GRCm39) |
Y46* |
probably null |
Het |
Adam18 |
T |
C |
8: 25,141,802 (GRCm39) |
K256E |
probably damaging |
Het |
Adam20 |
T |
A |
8: 41,249,595 (GRCm39) |
H568Q |
probably benign |
Het |
Ambp |
A |
G |
4: 63,069,705 (GRCm39) |
L107P |
probably damaging |
Het |
Art1 |
T |
C |
7: 101,756,541 (GRCm39) |
F244S |
probably damaging |
Het |
Asxl2 |
C |
A |
12: 3,551,458 (GRCm39) |
L1067I |
probably damaging |
Het |
Atm |
T |
C |
9: 53,371,123 (GRCm39) |
T2242A |
probably benign |
Het |
Atp2c1 |
C |
T |
9: 105,298,772 (GRCm39) |
|
probably null |
Het |
Bptf |
A |
G |
11: 106,934,617 (GRCm39) |
Y2819H |
probably damaging |
Het |
Caskin1 |
G |
A |
17: 24,724,668 (GRCm39) |
R1152H |
probably damaging |
Het |
Chd7 |
T |
A |
4: 8,866,432 (GRCm39) |
L868Q |
probably damaging |
Het |
Cyp2d40 |
T |
C |
15: 82,645,116 (GRCm39) |
E178G |
unknown |
Het |
Dclk1 |
G |
T |
3: 55,394,728 (GRCm39) |
R103S |
probably damaging |
Het |
Des |
A |
G |
1: 75,337,374 (GRCm39) |
T105A |
probably damaging |
Het |
Ebf3 |
T |
C |
7: 136,827,613 (GRCm39) |
T262A |
probably benign |
Het |
Epha4 |
A |
G |
1: 77,359,576 (GRCm39) |
V759A |
probably damaging |
Het |
Fryl |
A |
T |
5: 73,246,539 (GRCm39) |
F1078I |
probably damaging |
Het |
Il20 |
T |
C |
1: 130,838,518 (GRCm39) |
I60V |
probably benign |
Het |
Kif3c |
A |
T |
12: 3,415,981 (GRCm39) |
M1L |
probably benign |
Het |
Lhfpl5 |
A |
T |
17: 28,795,011 (GRCm39) |
I13F |
probably damaging |
Het |
Lin28b |
C |
T |
10: 45,257,324 (GRCm39) |
G218E |
probably damaging |
Het |
Lrp2 |
A |
T |
2: 69,312,697 (GRCm39) |
N2530K |
possibly damaging |
Het |
Matn2 |
T |
A |
15: 34,316,751 (GRCm39) |
F31Y |
possibly damaging |
Het |
Mcm6 |
T |
C |
1: 128,276,670 (GRCm39) |
N307D |
probably benign |
Het |
Mmp16 |
A |
T |
4: 18,054,491 (GRCm39) |
R332S |
probably benign |
Het |
Mpdz |
T |
A |
4: 81,287,829 (GRCm39) |
T477S |
probably benign |
Het |
Mrgprb3 |
C |
A |
7: 48,292,844 (GRCm39) |
G236W |
probably damaging |
Het |
Mrpl47 |
T |
C |
3: 32,784,335 (GRCm39) |
D145G |
probably damaging |
Het |
Myo6 |
T |
C |
9: 80,149,503 (GRCm39) |
S150P |
probably damaging |
Het |
Naca |
C |
A |
10: 127,876,048 (GRCm39) |
S360* |
probably null |
Het |
Or2ak6 |
C |
T |
11: 58,592,913 (GRCm39) |
P129S |
possibly damaging |
Het |
Phip |
C |
A |
9: 82,757,448 (GRCm39) |
A1575S |
probably benign |
Het |
Pip4p1 |
T |
C |
14: 51,167,763 (GRCm39) |
E54G |
probably damaging |
Het |
Plxna2 |
T |
C |
1: 194,326,864 (GRCm39) |
M266T |
probably benign |
Het |
Ppp1r16a |
C |
T |
15: 76,577,869 (GRCm39) |
Q328* |
probably null |
Het |
Prag1 |
T |
C |
8: 36,570,421 (GRCm39) |
F335L |
probably benign |
Het |
Prmt2 |
A |
G |
10: 76,058,399 (GRCm39) |
Y137H |
probably damaging |
Het |
Psme3ip1 |
C |
A |
8: 95,302,407 (GRCm39) |
C208F |
probably damaging |
Het |
Ptgds |
T |
C |
2: 25,357,357 (GRCm39) |
D184G |
possibly damaging |
Het |
Ptpn5 |
T |
C |
7: 46,738,359 (GRCm39) |
Y241C |
probably benign |
Het |
Pxdn |
G |
A |
12: 30,053,401 (GRCm39) |
V1193M |
probably benign |
Het |
Raet1e |
T |
A |
10: 22,057,986 (GRCm39) |
|
probably benign |
Het |
Rttn |
A |
G |
18: 89,001,934 (GRCm39) |
D282G |
probably benign |
Het |
Sis |
G |
A |
3: 72,819,282 (GRCm39) |
R1425* |
probably null |
Het |
Slco2a1 |
G |
T |
9: 102,959,582 (GRCm39) |
M559I |
probably damaging |
Het |
Spata4 |
C |
T |
8: 55,053,879 (GRCm39) |
A15V |
probably damaging |
Het |
Spop |
T |
C |
11: 95,361,453 (GRCm39) |
S14P |
probably benign |
Het |
Tcof1 |
A |
T |
18: 60,968,922 (GRCm39) |
D230E |
possibly damaging |
Het |
Ubxn10 |
A |
T |
4: 138,447,881 (GRCm39) |
V265E |
probably damaging |
Het |
Ugt2b36 |
T |
A |
5: 87,239,848 (GRCm39) |
Y179F |
probably benign |
Het |
Wdr37 |
A |
C |
13: 8,885,288 (GRCm39) |
|
probably null |
Het |
Zfp593 |
A |
G |
4: 133,972,224 (GRCm39) |
V94A |
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 |
|
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'- AATCCTGTGAAGTTTGACACTCTTCCC -3'
(R):5'- TGTTCCAGCACAGATCGTAAACAGC -3'
Sequencing Primer
(F):5'- CCCATTTTCGTGCAATTGACC -3'
(R):5'- GTTCATACACACTACAGAATTACGG -3'
|
Posted On |
2013-11-07 |