Incidental Mutation 'R7996:Tubgcp6'
| ID |
616111 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tubgcp6
|
| Ensembl Gene |
ENSMUSG00000051786 |
| Gene Name |
tubulin, gamma complex component 6 |
| Synonyms |
|
| MMRRC Submission |
046036-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.963)
|
| Stock # |
R7996 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
88983300-89007411 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 88993231 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 506
(Q506L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104977
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041656]
[ENSMUST00000109353]
|
| AlphaFold |
G5E8P0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000041656
AA Change: Q506L
PolyPhen 2
Score 0.184 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000040132
Gene: ENSMUSG00000051786
AA Change: Q506L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Spc97_Spc98
|
355 |
1667 |
3.3e-119 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000109353
AA Change: Q506L
PolyPhen 2
Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000104977
Gene: ENSMUSG00000051786
AA Change: Q506L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Spc97_Spc98
|
355 |
1675 |
2.8e-94 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169069
|
| SMART Domains |
Protein: ENSMUSP00000132786
Gene: ENSMUSG00000051786
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
77 |
107 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is part of a large multisubunit complex required for microtubule nucleation at the centrosome. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg5 |
A |
T |
17: 84,977,490 (GRCm39) |
N394K |
probably damaging |
Het |
| Amotl1 |
T |
C |
9: 14,505,001 (GRCm39) |
D69G |
possibly damaging |
Het |
| Arid5a |
G |
T |
1: 36,356,526 (GRCm39) |
C121F |
unknown |
Het |
| Ccne2 |
C |
A |
4: 11,201,347 (GRCm39) |
Q292K |
probably benign |
Het |
| Cfap70 |
A |
G |
14: 20,459,194 (GRCm39) |
I723T |
probably benign |
Het |
| Chrnd |
A |
G |
1: 87,118,828 (GRCm39) |
T62A |
probably damaging |
Het |
| Cobll1 |
T |
A |
2: 64,981,329 (GRCm39) |
H87L |
possibly damaging |
Het |
| Derl1 |
T |
G |
15: 57,741,970 (GRCm39) |
M122L |
probably benign |
Het |
| Dnah5 |
T |
A |
15: 28,409,323 (GRCm39) |
N3580K |
probably damaging |
Het |
| Efcab12 |
T |
C |
6: 115,800,378 (GRCm39) |
Q215R |
probably benign |
Het |
| Eif3m |
T |
C |
2: 104,831,694 (GRCm39) |
N289D |
probably benign |
Het |
| Elapor2 |
A |
C |
5: 9,512,881 (GRCm39) |
K958N |
probably damaging |
Het |
| Emsy |
T |
A |
7: 98,242,888 (GRCm39) |
I1084L |
probably benign |
Het |
| Garin3 |
T |
C |
11: 46,295,889 (GRCm39) |
V87A |
|
Het |
| Garre1 |
G |
T |
7: 33,963,024 (GRCm39) |
T216K |
possibly damaging |
Het |
| Gm3336 |
A |
T |
8: 71,173,146 (GRCm39) |
T53S |
unknown |
Het |
| Gpr137b |
T |
C |
13: 13,533,991 (GRCm39) |
Y355C |
|
Het |
| Hr |
G |
A |
14: 70,801,043 (GRCm39) |
W676* |
probably null |
Het |
| Katnb1 |
A |
T |
8: 95,824,643 (GRCm39) |
I546F |
possibly damaging |
Het |
| Memo1 |
A |
T |
17: 74,565,491 (GRCm39) |
L24Q |
probably damaging |
Het |
| Mmel1 |
C |
G |
4: 154,976,912 (GRCm39) |
Q529E |
probably benign |
Het |
| Naip5 |
A |
G |
13: 100,358,164 (GRCm39) |
F1024S |
probably damaging |
Het |
| Or4c58 |
T |
C |
2: 89,674,759 (GRCm39) |
D186G |
probably benign |
Het |
| Or7c70 |
A |
T |
10: 78,683,155 (GRCm39) |
V198E |
probably damaging |
Het |
| Paics |
A |
G |
5: 77,107,276 (GRCm39) |
K110R |
probably benign |
Het |
| Pate13 |
G |
A |
9: 35,820,650 (GRCm39) |
R34H |
probably damaging |
Het |
| Pcdhgc4 |
C |
T |
18: 37,950,459 (GRCm39) |
S625F |
probably damaging |
Het |
| Pnpla8 |
T |
A |
12: 44,329,766 (GRCm39) |
L106* |
probably null |
Het |
| Rabggtb |
T |
C |
3: 153,617,605 (GRCm39) |
H31R |
probably damaging |
Het |
| Rhot1 |
G |
A |
11: 80,148,363 (GRCm39) |
C601Y |
probably damaging |
Het |
| Rps27 |
A |
G |
3: 90,120,309 (GRCm39) |
V53A |
probably benign |
Het |
| Sdr39u1 |
C |
A |
14: 56,135,344 (GRCm39) |
G200* |
probably null |
Het |
| Sesn1 |
T |
A |
10: 41,770,929 (GRCm39) |
Y153* |
probably null |
Het |
| Slc25a40 |
A |
G |
5: 8,493,653 (GRCm39) |
T168A |
probably damaging |
Het |
| Smoc2 |
C |
T |
17: 14,595,730 (GRCm39) |
R286* |
probably null |
Het |
| Smtnl2 |
T |
A |
11: 72,291,200 (GRCm39) |
K349N |
probably damaging |
Het |
| Snx16 |
G |
T |
3: 10,500,509 (GRCm39) |
D153E |
probably benign |
Het |
| Spata31e5 |
C |
T |
1: 28,817,487 (GRCm39) |
E182K |
probably damaging |
Het |
| Ssu72 |
A |
C |
4: 155,816,450 (GRCm39) |
N144T |
probably benign |
Het |
| Stk40 |
C |
A |
4: 126,030,667 (GRCm39) |
L296I |
probably damaging |
Het |
| Sult3a2 |
T |
C |
10: 33,644,254 (GRCm39) |
M225V |
probably damaging |
Het |
| Syne2 |
T |
C |
12: 76,051,441 (GRCm39) |
L4057P |
probably damaging |
Het |
| Tbx2 |
A |
G |
11: 85,725,616 (GRCm39) |
H189R |
probably damaging |
Het |
| Tead1 |
T |
C |
7: 112,441,311 (GRCm39) |
|
probably null |
Het |
| Tgs1 |
T |
C |
4: 3,605,842 (GRCm39) |
S786P |
probably damaging |
Het |
| Tmco4 |
T |
C |
4: 138,748,172 (GRCm39) |
Y251H |
probably damaging |
Het |
| Trim14 |
A |
T |
4: 46,533,086 (GRCm39) |
C76S |
probably benign |
Het |
| Vmn2r50 |
A |
T |
7: 9,781,795 (GRCm39) |
F317I |
probably damaging |
Het |
| Vwa5a |
T |
A |
9: 38,639,124 (GRCm39) |
Y335* |
probably null |
Het |
| Zgrf1 |
C |
T |
3: 127,389,573 (GRCm39) |
T1257I |
possibly damaging |
Het |
| Zpr1 |
A |
G |
9: 46,184,863 (GRCm39) |
N87D |
possibly damaging |
Het |
|
| Other mutations in Tubgcp6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00417:Tubgcp6
|
APN |
15 |
88,988,211 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL00556:Tubgcp6
|
APN |
15 |
88,985,165 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00943:Tubgcp6
|
APN |
15 |
89,006,600 (GRCm39) |
nonsense |
probably null |
|
|
IGL01284:Tubgcp6
|
APN |
15 |
88,994,258 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01363:Tubgcp6
|
APN |
15 |
88,991,728 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01386:Tubgcp6
|
APN |
15 |
88,992,199 (GRCm39) |
nonsense |
probably null |
|
|
IGL01792:Tubgcp6
|
APN |
15 |
88,985,484 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01866:Tubgcp6
|
APN |
15 |
88,987,691 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02596:Tubgcp6
|
APN |
15 |
88,985,117 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02858:Tubgcp6
|
APN |
15 |
88,986,518 (GRCm39) |
nonsense |
probably null |
|
|
IGL02873:Tubgcp6
|
APN |
15 |
88,988,027 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03400:Tubgcp6
|
APN |
15 |
88,992,302 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02796:Tubgcp6
|
UTSW |
15 |
89,006,593 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0010:Tubgcp6
|
UTSW |
15 |
88,987,386 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0308:Tubgcp6
|
UTSW |
15 |
89,006,639 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R0440:Tubgcp6
|
UTSW |
15 |
88,987,268 (GRCm39) |
missense |
probably benign |
0.12 |
|
R0631:Tubgcp6
|
UTSW |
15 |
88,985,190 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1653:Tubgcp6
|
UTSW |
15 |
88,991,645 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1901:Tubgcp6
|
UTSW |
15 |
89,000,444 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R1902:Tubgcp6
|
UTSW |
15 |
89,000,444 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R1905:Tubgcp6
|
UTSW |
15 |
88,984,811 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2005:Tubgcp6
|
UTSW |
15 |
88,988,369 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2067:Tubgcp6
|
UTSW |
15 |
88,988,692 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2083:Tubgcp6
|
UTSW |
15 |
89,006,579 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2285:Tubgcp6
|
UTSW |
15 |
89,006,677 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2401:Tubgcp6
|
UTSW |
15 |
88,987,187 (GRCm39) |
missense |
probably benign |
0.22 |
|
R2436:Tubgcp6
|
UTSW |
15 |
88,986,568 (GRCm39) |
missense |
probably benign |
0.37 |
|
R3017:Tubgcp6
|
UTSW |
15 |
88,987,285 (GRCm39) |
nonsense |
probably null |
|
|
R3054:Tubgcp6
|
UTSW |
15 |
89,006,806 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3932:Tubgcp6
|
UTSW |
15 |
88,988,617 (GRCm39) |
unclassified |
probably benign |
|
|
R4350:Tubgcp6
|
UTSW |
15 |
88,988,198 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4472:Tubgcp6
|
UTSW |
15 |
88,987,857 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4864:Tubgcp6
|
UTSW |
15 |
88,988,021 (GRCm39) |
missense |
probably benign |
|
|
R4937:Tubgcp6
|
UTSW |
15 |
88,985,752 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4983:Tubgcp6
|
UTSW |
15 |
88,990,494 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4996:Tubgcp6
|
UTSW |
15 |
88,987,693 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R5044:Tubgcp6
|
UTSW |
15 |
88,983,748 (GRCm39) |
unclassified |
probably benign |
|
|
R5122:Tubgcp6
|
UTSW |
15 |
89,000,306 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5607:Tubgcp6
|
UTSW |
15 |
88,995,353 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5608:Tubgcp6
|
UTSW |
15 |
88,995,353 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5653:Tubgcp6
|
UTSW |
15 |
88,992,815 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R5886:Tubgcp6
|
UTSW |
15 |
88,987,450 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R5945:Tubgcp6
|
UTSW |
15 |
88,993,420 (GRCm39) |
splice site |
probably null |
|
|
R6111:Tubgcp6
|
UTSW |
15 |
88,985,123 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R6195:Tubgcp6
|
UTSW |
15 |
89,006,994 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6792:Tubgcp6
|
UTSW |
15 |
89,007,080 (GRCm39) |
start gained |
probably benign |
|
|
R7074:Tubgcp6
|
UTSW |
15 |
89,004,839 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7103:Tubgcp6
|
UTSW |
15 |
88,985,232 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7274:Tubgcp6
|
UTSW |
15 |
88,987,173 (GRCm39) |
nonsense |
probably null |
|
|
R7275:Tubgcp6
|
UTSW |
15 |
88,987,146 (GRCm39) |
nonsense |
probably null |
|
|
R7514:Tubgcp6
|
UTSW |
15 |
89,004,728 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7540:Tubgcp6
|
UTSW |
15 |
88,986,526 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R7571:Tubgcp6
|
UTSW |
15 |
88,984,925 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7706:Tubgcp6
|
UTSW |
15 |
88,988,426 (GRCm39) |
missense |
probably benign |
|
|
R7721:Tubgcp6
|
UTSW |
15 |
88,985,604 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7980:Tubgcp6
|
UTSW |
15 |
88,986,232 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8095:Tubgcp6
|
UTSW |
15 |
89,006,977 (GRCm39) |
missense |
probably benign |
0.07 |
|
R8191:Tubgcp6
|
UTSW |
15 |
89,004,843 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8510:Tubgcp6
|
UTSW |
15 |
88,987,152 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8839:Tubgcp6
|
UTSW |
15 |
88,987,681 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8862:Tubgcp6
|
UTSW |
15 |
89,006,824 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9044:Tubgcp6
|
UTSW |
15 |
88,987,397 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9321:Tubgcp6
|
UTSW |
15 |
88,992,186 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9402:Tubgcp6
|
UTSW |
15 |
88,987,064 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9428:Tubgcp6
|
UTSW |
15 |
88,985,100 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CACATTCAGTACATCTTGGATAACAGG -3'
(R):5'- TGTGTTCCCCACTGTGAGTC -3'
Sequencing Primer
(F):5'- GTACATCTTGGATAACAGGAGACTC -3'
(R):5'- TCCTTTCCTCCAGTGTGAGCTTG -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation