Incidental Mutation 'R9687:Tubgcp5'
| ID |
728911 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tubgcp5
|
| Ensembl Gene |
ENSMUSG00000033790 |
| Gene Name |
tubulin, gamma complex component 5 |
| Synonyms |
GCP5, B130010C12Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.968)
|
| Stock # |
R9687 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
55443873-55481207 bp(+) (GRCm39) |
| Type of Mutation |
critical splice acceptor site |
| DNA Base Change (assembly) |
G to T
at 55475327 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032627
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032627]
[ENSMUST00000032627]
[ENSMUST00000205796]
[ENSMUST00000206133]
[ENSMUST00000206191]
|
| AlphaFold |
Q8BKN5 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000032627
|
| SMART Domains |
Protein: ENSMUSP00000032627
Gene: ENSMUSG00000033790
| 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 |
probably null
Transcript: ENSMUST00000032627
|
| SMART Domains |
Protein: ENSMUSP00000032627
Gene: ENSMUSG00000033790
| 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 |
probably benign
Transcript: ENSMUST00000205796
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206133
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206191
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9930111J21Rik1 |
A |
G |
11: 48,839,249 (GRCm39) |
L446P |
probably damaging |
Het |
| Abcc9 |
T |
C |
6: 142,578,889 (GRCm39) |
T927A |
probably benign |
Het |
| Abraxas2 |
A |
G |
7: 132,482,577 (GRCm39) |
T258A |
probably benign |
Het |
| Akna |
A |
T |
4: 63,292,674 (GRCm39) |
C1078* |
probably null |
Het |
| Arhgap24 |
T |
A |
5: 102,994,022 (GRCm39) |
F34L |
probably benign |
Het |
| Cpa5 |
C |
T |
6: 30,614,041 (GRCm39) |
T61I |
probably benign |
Het |
| Crebrf |
A |
G |
17: 26,982,601 (GRCm39) |
*654W |
probably null |
Het |
| Dchs1 |
C |
A |
7: 105,407,191 (GRCm39) |
R2134L |
probably damaging |
Het |
| Dcps |
T |
C |
9: 35,035,978 (GRCm39) |
N303D |
probably damaging |
Het |
| Ddhd1 |
C |
T |
14: 45,848,190 (GRCm39) |
E527K |
probably damaging |
Het |
| Dnah14 |
T |
A |
1: 181,425,978 (GRCm39) |
M174K |
probably benign |
Het |
| Ehd1 |
A |
G |
19: 6,348,330 (GRCm39) |
D436G |
|
Het |
| Entrep1 |
A |
G |
19: 23,957,029 (GRCm39) |
I327T |
probably damaging |
Het |
| Epha8 |
G |
T |
4: 136,665,897 (GRCm39) |
L420M |
probably damaging |
Het |
| Etv1 |
T |
C |
12: 38,911,361 (GRCm39) |
Y396H |
probably damaging |
Het |
| Fbxo11 |
A |
G |
17: 88,316,494 (GRCm39) |
I293T |
|
Het |
| Gcfc2 |
T |
A |
6: 81,918,323 (GRCm39) |
S338T |
probably damaging |
Het |
| Gm10272 |
T |
C |
10: 77,542,764 (GRCm39) |
V102A |
possibly damaging |
Het |
| Gm11110 |
T |
C |
17: 57,410,439 (GRCm39) |
T20A |
unknown |
Het |
| Gna14 |
G |
A |
19: 16,582,350 (GRCm39) |
R206Q |
|
Het |
| Gpm6a |
T |
C |
8: 55,503,209 (GRCm39) |
Y153H |
possibly damaging |
Het |
| Grip1 |
G |
A |
10: 119,874,569 (GRCm39) |
E778K |
possibly damaging |
Het |
| H2-M10.6 |
G |
A |
17: 37,125,147 (GRCm39) |
V313I |
probably benign |
Het |
| Igkv8-19 |
T |
C |
6: 70,318,005 (GRCm39) |
I74V |
probably benign |
Het |
| Kif24 |
A |
G |
4: 41,428,546 (GRCm39) |
L138P |
probably damaging |
Het |
| Kif26a |
A |
G |
12: 112,143,625 (GRCm39) |
E1293G |
probably damaging |
Het |
| Lrp1 |
A |
C |
10: 127,402,562 (GRCm39) |
L2203R |
probably damaging |
Het |
| Ms4a6b |
A |
G |
19: 11,497,806 (GRCm39) |
D35G |
possibly damaging |
Het |
| Myo1h |
A |
T |
5: 114,458,769 (GRCm39) |
D184V |
|
Het |
| Ncdn |
G |
A |
4: 126,642,467 (GRCm39) |
R397W |
probably damaging |
Het |
| Ncor1 |
A |
T |
11: 62,260,193 (GRCm39) |
I519N |
possibly damaging |
Het |
| Obsl1 |
A |
G |
1: 75,479,670 (GRCm39) |
V575A |
probably damaging |
Het |
| Or2y15 |
T |
C |
11: 49,350,518 (GRCm39) |
F4S |
probably benign |
Het |
| Or5m8 |
G |
T |
2: 85,822,220 (GRCm39) |
V20L |
probably benign |
Het |
| Or7a35 |
T |
A |
10: 78,853,843 (GRCm39) |
I229N |
probably damaging |
Het |
| Osbpl5 |
A |
G |
7: 143,247,598 (GRCm39) |
Y747H |
possibly damaging |
Het |
| Pcdh18 |
T |
A |
3: 49,711,036 (GRCm39) |
D93V |
probably damaging |
Het |
| Ppef2 |
T |
A |
5: 92,386,746 (GRCm39) |
D397V |
probably benign |
Het |
| Ppfia4 |
G |
A |
1: 134,245,694 (GRCm39) |
T620I |
probably benign |
Het |
| Ppp1r9a |
T |
C |
6: 4,905,978 (GRCm39) |
S178P |
probably damaging |
Het |
| Ptchd4 |
A |
G |
17: 42,813,467 (GRCm39) |
Y456C |
probably damaging |
Het |
| Pxk |
A |
G |
14: 8,151,567 (GRCm38) |
I461V |
possibly damaging |
Het |
| Rab18 |
T |
A |
18: 6,784,622 (GRCm39) |
N104K |
probably benign |
Het |
| Sars1 |
A |
G |
3: 108,343,221 (GRCm39) |
L90P |
probably benign |
Het |
| Scaf8 |
T |
A |
17: 3,221,410 (GRCm39) |
I299N |
unknown |
Het |
| Sh3bp2 |
C |
T |
5: 34,716,977 (GRCm39) |
P463S |
probably benign |
Het |
| Slc12a3 |
A |
G |
8: 95,075,208 (GRCm39) |
N734S |
possibly damaging |
Het |
| Slc12a7 |
G |
T |
13: 73,938,796 (GRCm39) |
R191L |
probably damaging |
Het |
| Slc7a12 |
A |
G |
3: 14,545,960 (GRCm39) |
Y35C |
possibly damaging |
Het |
| Spmip2 |
G |
A |
3: 79,337,299 (GRCm39) |
D36N |
possibly damaging |
Het |
| Susd4 |
A |
G |
1: 182,722,762 (GRCm39) |
|
probably null |
Het |
| Taar7f |
G |
A |
10: 23,925,727 (GRCm39) |
R107K |
probably benign |
Het |
| Tarm1 |
T |
C |
7: 3,544,457 (GRCm39) |
T237A |
probably benign |
Het |
| Tshr |
C |
A |
12: 91,504,439 (GRCm39) |
A459E |
probably damaging |
Het |
| Unc13b |
T |
C |
4: 43,174,920 (GRCm39) |
V1916A |
unknown |
Het |
| Unc45b |
A |
G |
11: 82,810,562 (GRCm39) |
D274G |
probably damaging |
Het |
| Vmn1r230 |
T |
A |
17: 21,067,604 (GRCm39) |
Y264* |
probably null |
Het |
| Vmn2r109 |
G |
T |
17: 20,775,332 (GRCm39) |
Q132K |
|
Het |
| Zbtb20 |
A |
G |
16: 43,430,160 (GRCm39) |
S151G |
possibly damaging |
Het |
| Zbtb22 |
A |
C |
17: 34,136,850 (GRCm39) |
T332P |
probably damaging |
Het |
| Zc3h6 |
A |
G |
2: 128,859,281 (GRCm39) |
D1104G |
probably damaging |
Het |
| Zfp748 |
A |
G |
13: 67,690,471 (GRCm39) |
V263A |
probably benign |
Het |
| Zhx3 |
A |
C |
2: 160,623,678 (GRCm39) |
V163G |
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 |
|
|
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 |
|
Z1088:Tubgcp5
|
UTSW |
7 |
55,464,849 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGCCATTGTCTAGGGCTCAG -3'
(R):5'- GCTACATGCCTAGATACCGTC -3'
Sequencing Primer
(F):5'- CCAGCCTGGTCTATAAAGTGAGTTC -3'
(R):5'- ACATGCCTAGATACCGTCTTTCC -3'
|
| Posted On |
2022-10-06 |
Incidental Mutation