Incidental Mutation 'R4545:Tubgcp2'
ID |
333720 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tubgcp2
|
Ensembl Gene |
ENSMUSG00000025474 |
Gene Name |
tubulin, gamma complex component 2 |
Synonyms |
1700022B05Rik |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.952)
|
Stock # |
R4545 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
139575868-139616582 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 139575984 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Leucine
at position 893
(P893L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000026547
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026546]
[ENSMUST00000026547]
[ENSMUST00000106069]
[ENSMUST00000148670]
[ENSMUST00000173209]
[ENSMUST00000211638]
[ENSMUST00000210224]
|
AlphaFold |
Q921G8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000026546
|
SMART Domains |
Protein: ENSMUSP00000026546 Gene: ENSMUSG00000025473
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
16 |
N/A |
INTRINSIC |
Pfam:Pep_M12B_propep
|
26 |
151 |
5.9e-35 |
PFAM |
Pfam:Reprolysin_5
|
193 |
371 |
1e-22 |
PFAM |
Pfam:Reprolysin_4
|
193 |
384 |
1.7e-16 |
PFAM |
Pfam:Reprolysin
|
195 |
394 |
2.7e-70 |
PFAM |
Pfam:Reprolysin_2
|
214 |
384 |
1.6e-16 |
PFAM |
Pfam:Reprolysin_3
|
218 |
339 |
4.9e-21 |
PFAM |
DISIN
|
411 |
486 |
5.16e-36 |
SMART |
ACR
|
487 |
606 |
2.15e-35 |
SMART |
EGF
|
613 |
642 |
3.06e-1 |
SMART |
transmembrane domain
|
660 |
682 |
N/A |
INTRINSIC |
low complexity region
|
732 |
762 |
N/A |
INTRINSIC |
low complexity region
|
770 |
783 |
N/A |
INTRINSIC |
low complexity region
|
784 |
812 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000026547
AA Change: P893L
PolyPhen 2
Score 0.510 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000026547 Gene: ENSMUSG00000025474 AA Change: P893L
Domain | Start | End | E-Value | Type |
low complexity region
|
109 |
121 |
N/A |
INTRINSIC |
Pfam:Spc97_Spc98
|
220 |
738 |
8.6e-123 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000106069
|
SMART Domains |
Protein: ENSMUSP00000101684 Gene: ENSMUSG00000025473
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
16 |
N/A |
INTRINSIC |
Pfam:Pep_M12B_propep
|
28 |
152 |
4e-30 |
PFAM |
Pfam:Reprolysin_5
|
194 |
372 |
9.6e-23 |
PFAM |
Pfam:Reprolysin_4
|
194 |
385 |
1.6e-16 |
PFAM |
Pfam:Reprolysin
|
196 |
395 |
2.2e-73 |
PFAM |
Pfam:Reprolysin_2
|
215 |
385 |
2.9e-18 |
PFAM |
Pfam:Reprolysin_3
|
219 |
340 |
6.6e-21 |
PFAM |
DISIN
|
412 |
487 |
5.16e-36 |
SMART |
ACR
|
488 |
607 |
2.15e-35 |
SMART |
EGF
|
614 |
643 |
3.06e-1 |
SMART |
transmembrane domain
|
661 |
683 |
N/A |
INTRINSIC |
low complexity region
|
733 |
763 |
N/A |
INTRINSIC |
low complexity region
|
771 |
784 |
N/A |
INTRINSIC |
low complexity region
|
785 |
813 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128332
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000148670
|
SMART Domains |
Protein: ENSMUSP00000117858 Gene: ENSMUSG00000025473
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
16 |
N/A |
INTRINSIC |
Pfam:Pep_M12B_propep
|
26 |
151 |
1.8e-35 |
PFAM |
Pfam:Reprolysin_5
|
193 |
371 |
3.6e-23 |
PFAM |
Pfam:Reprolysin_4
|
193 |
384 |
6e-17 |
PFAM |
Pfam:Reprolysin
|
195 |
394 |
8.2e-71 |
PFAM |
Pfam:Reprolysin_2
|
214 |
384 |
5.8e-17 |
PFAM |
Pfam:Reprolysin_3
|
218 |
339 |
1.7e-21 |
PFAM |
DISIN
|
411 |
486 |
5.16e-36 |
SMART |
ACR
|
487 |
612 |
2.21e-32 |
SMART |
EGF
|
619 |
648 |
3.06e-1 |
SMART |
transmembrane domain
|
666 |
688 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000173209
|
SMART Domains |
Protein: ENSMUSP00000133673 Gene: ENSMUSG00000025473
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
16 |
N/A |
INTRINSIC |
low complexity region
|
31 |
45 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209930
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000211638
AA Change: P893L
PolyPhen 2
Score 0.272 (Sensitivity: 0.91; Specificity: 0.88)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000210224
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211186
|
Meta Mutation Damage Score |
0.0819 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.7%
|
Validation Efficiency |
98% (41/42) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akr1c20 |
A |
C |
13: 4,557,843 (GRCm39) |
V201G |
probably damaging |
Het |
Atf7 |
A |
G |
15: 102,442,762 (GRCm39) |
V449A |
probably benign |
Het |
Ccr1 |
G |
A |
9: 123,764,437 (GRCm39) |
A31V |
probably benign |
Het |
Chrna6 |
A |
T |
8: 27,896,711 (GRCm39) |
S389T |
probably benign |
Het |
Clic6 |
C |
T |
16: 92,289,045 (GRCm39) |
|
probably benign |
Het |
Cmya5 |
G |
A |
13: 93,228,426 (GRCm39) |
R2221* |
probably null |
Het |
Coq8b |
G |
T |
7: 26,932,930 (GRCm39) |
C13F |
probably benign |
Het |
Cspg4 |
T |
A |
9: 56,795,913 (GRCm39) |
L1216Q |
possibly damaging |
Het |
Decr1 |
C |
A |
4: 15,930,979 (GRCm39) |
V118F |
probably damaging |
Het |
Dlec1 |
A |
T |
9: 118,957,146 (GRCm39) |
I796F |
probably damaging |
Het |
Dnajc11 |
T |
A |
4: 152,064,398 (GRCm39) |
D516E |
probably damaging |
Het |
Dock8 |
G |
A |
19: 25,165,722 (GRCm39) |
V1869M |
probably damaging |
Het |
Dst |
A |
G |
1: 34,227,819 (GRCm39) |
D1982G |
probably damaging |
Het |
Gnptab |
G |
A |
10: 88,250,457 (GRCm39) |
D190N |
probably benign |
Het |
Golga4 |
A |
G |
9: 118,385,913 (GRCm39) |
K22E |
probably damaging |
Het |
Hecw2 |
T |
C |
1: 53,852,381 (GRCm39) |
*1579W |
probably null |
Het |
Ica1l |
A |
G |
1: 60,052,977 (GRCm39) |
|
probably null |
Het |
Ift122 |
T |
A |
6: 115,867,549 (GRCm39) |
L433Q |
probably damaging |
Het |
Iqgap1 |
T |
C |
7: 80,412,315 (GRCm39) |
|
probably null |
Het |
Klra13-ps |
T |
C |
6: 130,268,232 (GRCm39) |
|
noncoding transcript |
Het |
Mndal |
A |
T |
1: 173,703,230 (GRCm39) |
Y58* |
probably null |
Het |
Mvb12b |
G |
C |
2: 33,717,712 (GRCm39) |
P172R |
possibly damaging |
Het |
Ncapg |
T |
C |
5: 45,828,554 (GRCm39) |
F102L |
probably damaging |
Het |
Or1e30 |
T |
C |
11: 73,677,992 (GRCm39) |
V76A |
probably damaging |
Het |
Or5an11 |
T |
C |
19: 12,246,188 (GRCm39) |
V198A |
possibly damaging |
Het |
Or5b97 |
T |
A |
19: 12,878,632 (GRCm39) |
K171* |
probably null |
Het |
Pde8a |
A |
T |
7: 80,977,847 (GRCm39) |
R713S |
probably damaging |
Het |
Rbks |
T |
C |
5: 31,781,912 (GRCm39) |
N296S |
probably benign |
Het |
Sema3c |
G |
A |
5: 17,899,770 (GRCm39) |
V421I |
probably benign |
Het |
Tm9sf1 |
A |
G |
14: 55,875,565 (GRCm39) |
V393A |
possibly damaging |
Het |
Uba52rt |
C |
T |
4: 3,973,244 (GRCm39) |
R106H |
probably benign |
Het |
Vnn3 |
G |
A |
10: 23,732,224 (GRCm39) |
R158H |
probably benign |
Het |
Zfa-ps |
G |
T |
10: 52,421,032 (GRCm39) |
|
noncoding transcript |
Het |
Zfp414 |
T |
C |
17: 33,850,622 (GRCm39) |
|
probably benign |
Het |
Zfp810 |
G |
A |
9: 22,190,041 (GRCm39) |
T289I |
probably damaging |
Het |
Zfp819 |
G |
T |
7: 43,267,209 (GRCm39) |
R488L |
probably damaging |
Het |
Zfp942 |
C |
T |
17: 22,147,285 (GRCm39) |
G448D |
probably benign |
Het |
Zscan12 |
A |
G |
13: 21,550,875 (GRCm39) |
K165E |
possibly damaging |
Het |
|
Other mutations in Tubgcp2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00163:Tubgcp2
|
APN |
7 |
139,610,935 (GRCm39) |
missense |
possibly damaging |
0.58 |
IGL00791:Tubgcp2
|
APN |
7 |
139,581,411 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL02643:Tubgcp2
|
APN |
7 |
139,576,067 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02710:Tubgcp2
|
APN |
7 |
139,584,897 (GRCm39) |
splice site |
probably benign |
|
IGL03352:Tubgcp2
|
APN |
7 |
139,580,940 (GRCm39) |
missense |
probably benign |
0.01 |
R0189:Tubgcp2
|
UTSW |
7 |
139,581,518 (GRCm39) |
splice site |
probably benign |
|
R0333:Tubgcp2
|
UTSW |
7 |
139,579,260 (GRCm39) |
missense |
probably damaging |
1.00 |
R0379:Tubgcp2
|
UTSW |
7 |
139,612,105 (GRCm39) |
missense |
probably damaging |
1.00 |
R1051:Tubgcp2
|
UTSW |
7 |
139,578,809 (GRCm39) |
missense |
probably benign |
0.26 |
R1192:Tubgcp2
|
UTSW |
7 |
139,609,751 (GRCm39) |
missense |
probably benign |
|
R1528:Tubgcp2
|
UTSW |
7 |
139,613,696 (GRCm39) |
unclassified |
probably benign |
|
R1728:Tubgcp2
|
UTSW |
7 |
139,577,968 (GRCm39) |
missense |
probably benign |
|
R1729:Tubgcp2
|
UTSW |
7 |
139,577,968 (GRCm39) |
missense |
probably benign |
|
R1784:Tubgcp2
|
UTSW |
7 |
139,577,968 (GRCm39) |
missense |
probably benign |
|
R1888:Tubgcp2
|
UTSW |
7 |
139,586,069 (GRCm39) |
missense |
probably damaging |
1.00 |
R1888:Tubgcp2
|
UTSW |
7 |
139,586,069 (GRCm39) |
missense |
probably damaging |
1.00 |
R1888:Tubgcp2
|
UTSW |
7 |
139,579,183 (GRCm39) |
missense |
probably damaging |
1.00 |
R1888:Tubgcp2
|
UTSW |
7 |
139,579,183 (GRCm39) |
missense |
probably damaging |
1.00 |
R1967:Tubgcp2
|
UTSW |
7 |
139,586,066 (GRCm39) |
missense |
probably benign |
0.09 |
R4514:Tubgcp2
|
UTSW |
7 |
139,575,984 (GRCm39) |
missense |
possibly damaging |
0.51 |
R4774:Tubgcp2
|
UTSW |
7 |
139,576,074 (GRCm39) |
missense |
probably damaging |
1.00 |
R4790:Tubgcp2
|
UTSW |
7 |
139,579,201 (GRCm39) |
missense |
probably damaging |
1.00 |
R5114:Tubgcp2
|
UTSW |
7 |
139,587,354 (GRCm39) |
missense |
possibly damaging |
0.91 |
R5435:Tubgcp2
|
UTSW |
7 |
139,575,985 (GRCm39) |
missense |
possibly damaging |
0.51 |
R5531:Tubgcp2
|
UTSW |
7 |
139,584,937 (GRCm39) |
splice site |
probably null |
|
R5699:Tubgcp2
|
UTSW |
7 |
139,578,701 (GRCm39) |
missense |
possibly damaging |
0.53 |
R5706:Tubgcp2
|
UTSW |
7 |
139,612,138 (GRCm39) |
nonsense |
probably null |
|
R6123:Tubgcp2
|
UTSW |
7 |
139,587,510 (GRCm39) |
missense |
probably damaging |
1.00 |
R7153:Tubgcp2
|
UTSW |
7 |
139,580,949 (GRCm39) |
missense |
probably benign |
|
R7165:Tubgcp2
|
UTSW |
7 |
139,585,274 (GRCm39) |
missense |
probably damaging |
0.99 |
R7213:Tubgcp2
|
UTSW |
7 |
139,587,927 (GRCm39) |
missense |
probably benign |
0.28 |
R7424:Tubgcp2
|
UTSW |
7 |
139,587,837 (GRCm39) |
missense |
possibly damaging |
0.65 |
R7511:Tubgcp2
|
UTSW |
7 |
139,584,793 (GRCm39) |
missense |
probably benign |
0.00 |
R7523:Tubgcp2
|
UTSW |
7 |
139,586,783 (GRCm39) |
missense |
probably benign |
0.08 |
R7612:Tubgcp2
|
UTSW |
7 |
139,580,964 (GRCm39) |
missense |
probably damaging |
1.00 |
R7951:Tubgcp2
|
UTSW |
7 |
139,587,893 (GRCm39) |
missense |
possibly damaging |
0.69 |
R8220:Tubgcp2
|
UTSW |
7 |
139,586,053 (GRCm39) |
missense |
possibly damaging |
0.92 |
R8481:Tubgcp2
|
UTSW |
7 |
139,613,588 (GRCm39) |
missense |
probably damaging |
1.00 |
R8717:Tubgcp2
|
UTSW |
7 |
139,576,705 (GRCm39) |
missense |
probably benign |
|
R8886:Tubgcp2
|
UTSW |
7 |
139,584,882 (GRCm39) |
missense |
probably benign |
0.04 |
R9222:Tubgcp2
|
UTSW |
7 |
139,587,965 (GRCm39) |
missense |
probably damaging |
1.00 |
R9603:Tubgcp2
|
UTSW |
7 |
139,584,789 (GRCm39) |
missense |
probably benign |
0.00 |
R9666:Tubgcp2
|
UTSW |
7 |
139,587,836 (GRCm39) |
missense |
probably damaging |
1.00 |
X0004:Tubgcp2
|
UTSW |
7 |
139,586,934 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
Predicted Primers |
PCR Primer
(F):5'- TCTGAAAAGCTTCTAAAAGGAAGTC -3'
(R):5'- TGAACCTGTCACATGATTGGGAG -3'
Sequencing Primer
(F):5'- AAGCTTCTAAAAGGAAGTCTAACATC -3'
(R):5'- ATAACCATGGCAGATCCTGTG -3'
|
Posted On |
2015-08-18 |