Incidental Mutation 'R5653:Tubgcp6'
| ID |
442132 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tubgcp6
|
| Ensembl Gene |
ENSMUSG00000051786 |
| Gene Name |
tubulin, gamma complex component 6 |
| Synonyms |
|
| MMRRC Submission |
043299-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.963)
|
| Stock # |
R5653 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
88983300-89007411 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 88992815 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 547
(V547I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000040132
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041656]
[ENSMUST00000109353]
|
| AlphaFold |
G5E8P0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000041656
AA Change: V547I
PolyPhen 2
Score 0.468 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000040132
Gene: ENSMUSG00000051786
AA Change: V547I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Spc97_Spc98
|
355 |
1667 |
3.3e-119 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109353
AA Change: V547I
PolyPhen 2
Score 0.275 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000104977
Gene: ENSMUSG00000051786
AA Change: V547I
| 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: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ablim2 |
T |
C |
5: 36,040,756 (GRCm39) |
L663P |
probably damaging |
Het |
| Atp10d |
A |
T |
5: 72,421,410 (GRCm39) |
Q682L |
probably benign |
Het |
| Atp8b1 |
A |
G |
18: 64,678,268 (GRCm39) |
V876A |
probably damaging |
Het |
| Bard1 |
A |
T |
1: 71,070,588 (GRCm39) |
V632E |
probably benign |
Het |
| Baz1b |
A |
T |
5: 135,237,951 (GRCm39) |
E209V |
probably benign |
Het |
| Bmp1 |
T |
A |
14: 70,727,534 (GRCm39) |
Y683F |
probably benign |
Het |
| Cacnb1 |
A |
T |
11: 97,900,105 (GRCm39) |
|
probably null |
Het |
| Capza2 |
G |
A |
6: 17,654,112 (GRCm39) |
A55T |
probably damaging |
Het |
| Cc2d2a |
A |
G |
5: 43,879,804 (GRCm39) |
N1127S |
possibly damaging |
Het |
| Ccdc13 |
A |
G |
9: 121,627,853 (GRCm39) |
*255R |
probably null |
Het |
| Ddias |
G |
T |
7: 92,507,937 (GRCm39) |
N659K |
probably damaging |
Het |
| Ddr1 |
C |
T |
17: 35,997,400 (GRCm39) |
A531T |
probably benign |
Het |
| Dnah9 |
T |
C |
11: 65,740,806 (GRCm39) |
T4127A |
probably damaging |
Het |
| Dnajc10 |
T |
A |
2: 80,179,712 (GRCm39) |
Y749N |
probably damaging |
Het |
| Dnm1l |
A |
G |
16: 16,137,353 (GRCm39) |
L422P |
probably damaging |
Het |
| Edil3 |
A |
T |
13: 89,279,931 (GRCm39) |
N203I |
probably damaging |
Het |
| Egfr |
C |
T |
11: 16,861,617 (GRCm39) |
A1132V |
probably benign |
Het |
| Entpd7 |
C |
T |
19: 43,679,596 (GRCm39) |
R50* |
probably null |
Het |
| Fat2 |
T |
C |
11: 55,201,142 (GRCm39) |
D644G |
probably damaging |
Het |
| Fhip1a |
A |
T |
3: 85,629,808 (GRCm39) |
L40Q |
probably damaging |
Het |
| Galnt11 |
T |
A |
5: 25,453,856 (GRCm39) |
D27E |
probably damaging |
Het |
| Gm10801 |
T |
A |
2: 98,494,396 (GRCm39) |
F158I |
probably damaging |
Het |
| Gm37240 |
A |
G |
3: 84,405,102 (GRCm39) |
F234L |
probably damaging |
Het |
| Gtf2ird1 |
A |
T |
5: 134,439,821 (GRCm39) |
F136L |
probably damaging |
Het |
| Hspa1l |
T |
C |
17: 35,196,396 (GRCm39) |
V145A |
probably damaging |
Het |
| Ice2 |
A |
G |
9: 69,335,662 (GRCm39) |
T882A |
probably benign |
Het |
| Itgb4 |
C |
T |
11: 115,874,983 (GRCm39) |
R447W |
probably benign |
Het |
| Kat6b |
A |
G |
14: 21,719,440 (GRCm39) |
N1264S |
probably benign |
Het |
| Kcnq4 |
C |
A |
4: 120,559,608 (GRCm39) |
V531L |
probably benign |
Het |
| Kif9 |
A |
T |
9: 110,353,999 (GRCm39) |
K790N |
probably damaging |
Het |
| Lipe |
T |
A |
7: 25,097,833 (GRCm39) |
I37L |
probably benign |
Het |
| Lrrc43 |
A |
G |
5: 123,637,643 (GRCm39) |
D270G |
probably damaging |
Het |
| Mon2 |
A |
G |
10: 122,861,999 (GRCm39) |
Y782H |
probably damaging |
Het |
| Mrpl52 |
T |
C |
14: 54,664,686 (GRCm39) |
S49P |
probably damaging |
Het |
| Or2ak5 |
G |
A |
11: 58,611,077 (GRCm39) |
H266Y |
probably damaging |
Het |
| Or2h15 |
T |
A |
17: 38,442,075 (GRCm39) |
T3S |
possibly damaging |
Het |
| Or5k14 |
A |
G |
16: 58,692,847 (GRCm39) |
L222P |
probably damaging |
Het |
| Or5p56 |
A |
T |
7: 107,589,592 (GRCm39) |
T7S |
probably benign |
Het |
| Pcbp2 |
C |
T |
15: 102,395,524 (GRCm39) |
A141V |
probably damaging |
Het |
| Pcsk9 |
T |
A |
4: 106,316,113 (GRCm39) |
Y110F |
probably damaging |
Het |
| Plxna4 |
A |
G |
6: 32,494,551 (GRCm39) |
S22P |
possibly damaging |
Het |
| Polq |
T |
A |
16: 36,860,896 (GRCm39) |
L506Q |
probably damaging |
Het |
| Prkn |
C |
T |
17: 11,456,536 (GRCm39) |
A119V |
probably damaging |
Het |
| Prx |
C |
T |
7: 27,217,029 (GRCm39) |
P510L |
probably damaging |
Het |
| Ptpre |
T |
C |
7: 135,255,672 (GRCm39) |
F54L |
probably damaging |
Het |
| Rspry1 |
T |
G |
8: 95,363,239 (GRCm39) |
|
probably null |
Het |
| Tnfrsf11b |
A |
T |
15: 54,123,262 (GRCm39) |
L113Q |
probably damaging |
Het |
| Tnk1 |
C |
T |
11: 69,744,411 (GRCm39) |
G411S |
probably damaging |
Het |
| Tor3a |
A |
G |
1: 156,484,080 (GRCm39) |
L290S |
probably damaging |
Het |
| Tril |
T |
C |
6: 53,794,970 (GRCm39) |
T751A |
probably benign |
Het |
| Txnrd3 |
T |
C |
6: 89,631,067 (GRCm39) |
L121P |
probably benign |
Het |
| Vmn1r210 |
T |
A |
13: 23,011,378 (GRCm39) |
R303* |
probably null |
Het |
| Vmn2r38 |
T |
C |
7: 9,100,764 (GRCm39) |
M1V |
probably null |
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 |
|
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 |
|
R7996:Tubgcp6
|
UTSW |
15 |
88,993,231 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
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'- GCAGTTATAATGGCCCTGACC -3'
(R):5'- AGGTAGGAGATCCCACACAC -3'
Sequencing Primer
(F):5'- TCTCTGCCAGTGAAATGAGC -3'
(R):5'- ACCCATAGCTGGCAGTGTCTC -3'
|
| Posted On |
2016-11-09 |
Incidental Mutation