Incidental Mutation 'R1905:Tubgcp6'
ID |
214328 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tubgcp6
|
Ensembl Gene |
ENSMUSG00000051786 |
Gene Name |
tubulin, gamma complex component 6 |
Synonyms |
|
MMRRC Submission |
039924-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.963)
|
Stock # |
R1905 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
88983300-89007411 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 88984811 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 1732
(Y1732C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000104977
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041656]
[ENSMUST00000082439]
[ENSMUST00000109353]
[ENSMUST00000130700]
[ENSMUST00000166480]
|
AlphaFold |
G5E8P0 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000041656
AA Change: Y1724C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000040132 Gene: ENSMUSG00000051786 AA Change: Y1724C
Domain | Start | End | E-Value | Type |
Pfam:Spc97_Spc98
|
355 |
1667 |
3.3e-119 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000082439
|
SMART Domains |
Protein: ENSMUSP00000081020 Gene: ENSMUSG00000035757
Domain | Start | End | E-Value | Type |
low complexity region
|
24 |
38 |
N/A |
INTRINSIC |
Pfam:UPF0061
|
79 |
625 |
8.3e-131 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000109353
AA Change: Y1732C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000104977 Gene: ENSMUSG00000051786 AA Change: Y1732C
Domain | Start | End | E-Value | Type |
Pfam:Spc97_Spc98
|
355 |
1675 |
2.8e-94 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000130700
|
SMART Domains |
Protein: ENSMUSP00000138382 Gene: ENSMUSG00000035757
Domain | Start | End | E-Value | Type |
low complexity region
|
24 |
38 |
N/A |
INTRINSIC |
Pfam:UPF0061
|
80 |
241 |
1.5e-39 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000163290
|
SMART Domains |
Protein: ENSMUSP00000131359 Gene: ENSMUSG00000051786
Domain | Start | End | E-Value | Type |
Pfam:Spc97_Spc98
|
91 |
288 |
2.9e-37 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000164717
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000166480
|
SMART Domains |
Protein: ENSMUSP00000132108 Gene: ENSMUSG00000051786
Domain | Start | End | E-Value | Type |
Pfam:Spc97_Spc98
|
2 |
123 |
5e-18 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000166994
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000169208
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000168256
|
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 |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000170877
|
Meta Mutation Damage Score |
0.2837 |
Coding Region Coverage |
- 1x: 97.5%
- 3x: 97.0%
- 10x: 95.5%
- 20x: 93.1%
|
Validation Efficiency |
99% (90/91) |
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: 89 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4833420G17Rik |
G |
T |
13: 119,606,216 (GRCm39) |
V153L |
possibly damaging |
Het |
Adamts17 |
T |
A |
7: 66,697,220 (GRCm39) |
C631* |
probably null |
Het |
Adamts19 |
A |
G |
18: 59,166,017 (GRCm39) |
R1070G |
possibly damaging |
Het |
Aldh1a1 |
A |
G |
19: 20,595,362 (GRCm39) |
E97G |
probably damaging |
Het |
Bola2 |
T |
A |
7: 126,295,410 (GRCm39) |
V40E |
probably damaging |
Het |
Ccar1 |
A |
G |
10: 62,612,437 (GRCm39) |
S243P |
possibly damaging |
Het |
Cd80 |
A |
T |
16: 38,294,539 (GRCm39) |
I141F |
probably damaging |
Het |
Ceacam23 |
T |
A |
7: 17,607,477 (GRCm39) |
|
noncoding transcript |
Het |
Chn2 |
T |
C |
6: 54,263,106 (GRCm39) |
C92R |
probably damaging |
Het |
Ciao2a |
A |
G |
9: 66,039,929 (GRCm39) |
K82R |
probably benign |
Het |
Clk1 |
A |
T |
1: 58,461,101 (GRCm39) |
|
probably benign |
Het |
Clock |
T |
C |
5: 76,414,735 (GRCm39) |
|
probably benign |
Het |
Cntnap3 |
A |
G |
13: 65,051,578 (GRCm39) |
V26A |
probably benign |
Het |
Csf3r |
A |
T |
4: 125,936,538 (GRCm39) |
K651N |
probably benign |
Het |
Cul4a |
T |
C |
8: 13,183,171 (GRCm39) |
M322T |
probably benign |
Het |
Cx3cl1 |
A |
G |
8: 95,506,687 (GRCm39) |
T231A |
probably benign |
Het |
Cyp2c68 |
A |
T |
19: 39,724,026 (GRCm39) |
C213S |
probably benign |
Het |
Dhx16 |
T |
G |
17: 36,199,247 (GRCm39) |
S814A |
probably benign |
Het |
Dnah1 |
T |
C |
14: 30,986,587 (GRCm39) |
I3659V |
probably benign |
Het |
Dock6 |
A |
T |
9: 21,740,870 (GRCm39) |
V906D |
probably benign |
Het |
Ep400 |
G |
A |
5: 110,818,814 (GRCm39) |
T2738I |
probably damaging |
Het |
Erbb4 |
A |
T |
1: 68,114,569 (GRCm39) |
|
probably benign |
Het |
Fam135b |
C |
T |
15: 71,404,836 (GRCm39) |
R70H |
probably damaging |
Het |
Fam13a |
T |
C |
6: 58,930,475 (GRCm39) |
Q479R |
probably damaging |
Het |
Fcgr4 |
A |
T |
1: 170,856,874 (GRCm39) |
Q247L |
probably damaging |
Het |
Flnc |
T |
A |
6: 29,459,459 (GRCm39) |
C2520S |
probably damaging |
Het |
Foxn1 |
A |
G |
11: 78,262,636 (GRCm39) |
|
probably null |
Het |
Fsip2 |
C |
T |
2: 82,813,772 (GRCm39) |
P3364S |
possibly damaging |
Het |
Fzd8 |
C |
T |
18: 9,213,803 (GRCm39) |
T295I |
probably damaging |
Het |
Gm4744 |
G |
A |
6: 40,928,736 (GRCm39) |
|
probably benign |
Het |
Gm4871 |
G |
T |
5: 144,966,859 (GRCm39) |
A208D |
probably damaging |
Het |
Gm527 |
A |
G |
12: 64,967,797 (GRCm39) |
N73S |
possibly damaging |
Het |
Gm5414 |
T |
C |
15: 101,533,075 (GRCm39) |
I451V |
probably damaging |
Het |
Golm1 |
A |
T |
13: 59,790,065 (GRCm39) |
V245E |
probably benign |
Het |
Grik1 |
A |
T |
16: 87,693,754 (GRCm39) |
Y879* |
probably null |
Het |
Grn |
C |
A |
11: 102,327,276 (GRCm39) |
P241Q |
probably damaging |
Het |
H2-T7 |
T |
C |
17: 36,453,833 (GRCm39) |
|
noncoding transcript |
Het |
Hjurp |
T |
C |
1: 88,194,338 (GRCm39) |
E190G |
probably benign |
Het |
Hmcn1 |
A |
C |
1: 150,868,606 (GRCm39) |
I66S |
probably damaging |
Het |
Hykk |
T |
A |
9: 54,853,667 (GRCm39) |
Y330N |
probably benign |
Het |
Khdc1c |
A |
G |
1: 21,439,281 (GRCm39) |
N89S |
probably benign |
Het |
Lcor |
A |
G |
19: 41,572,013 (GRCm39) |
D256G |
possibly damaging |
Het |
Lrrc72 |
T |
A |
12: 36,258,661 (GRCm39) |
|
probably null |
Het |
Lyst |
T |
G |
13: 13,808,719 (GRCm39) |
S130A |
probably benign |
Het |
Mast1 |
G |
A |
8: 85,642,895 (GRCm39) |
R967C |
probably damaging |
Het |
Mfng |
T |
C |
15: 78,657,286 (GRCm39) |
T63A |
probably damaging |
Het |
Mre11a |
G |
A |
9: 14,710,923 (GRCm39) |
D206N |
probably benign |
Het |
Myh10 |
A |
G |
11: 68,662,694 (GRCm39) |
|
probably benign |
Het |
Myt1 |
A |
G |
2: 181,439,549 (GRCm39) |
D357G |
probably damaging |
Het |
Nacad |
T |
A |
11: 6,552,540 (GRCm39) |
H217L |
probably benign |
Het |
Ncoa1 |
A |
G |
12: 4,345,433 (GRCm39) |
V638A |
probably damaging |
Het |
Nlrp3 |
T |
G |
11: 59,439,862 (GRCm39) |
F480V |
probably damaging |
Het |
Nos1ap |
A |
G |
1: 170,146,127 (GRCm39) |
W476R |
possibly damaging |
Het |
Nr1h4 |
T |
A |
10: 89,316,421 (GRCm39) |
T220S |
possibly damaging |
Het |
Ntf5 |
G |
T |
7: 45,065,176 (GRCm39) |
V103L |
probably damaging |
Het |
Ntm |
C |
A |
9: 29,090,393 (GRCm39) |
D109Y |
probably damaging |
Het |
Or7e178 |
C |
T |
9: 20,226,142 (GRCm39) |
E17K |
probably benign |
Het |
P2rx7 |
G |
A |
5: 122,819,015 (GRCm39) |
C479Y |
probably damaging |
Het |
Pappa2 |
T |
A |
1: 158,631,073 (GRCm39) |
|
probably null |
Het |
Pgap1 |
A |
C |
1: 54,551,120 (GRCm39) |
I520R |
probably benign |
Het |
Pikfyve |
G |
A |
1: 65,231,454 (GRCm39) |
|
probably null |
Het |
Plekhg3 |
T |
C |
12: 76,622,991 (GRCm39) |
S744P |
probably benign |
Het |
Pramel6 |
A |
G |
2: 87,339,526 (GRCm39) |
R97G |
probably damaging |
Het |
Pramel6 |
G |
T |
2: 87,339,527 (GRCm39) |
R97M |
probably damaging |
Het |
Psme4 |
T |
C |
11: 30,760,922 (GRCm39) |
V397A |
probably damaging |
Het |
Ptk2b |
T |
C |
14: 66,396,119 (GRCm39) |
D783G |
probably damaging |
Het |
Ptma-ps1 |
T |
A |
7: 23,763,306 (GRCm39) |
L17* |
probably null |
Het |
Ralgapa2 |
C |
A |
2: 146,229,621 (GRCm39) |
R1053L |
probably damaging |
Het |
Sap130 |
C |
T |
18: 31,813,620 (GRCm39) |
P559L |
possibly damaging |
Het |
Sap30 |
T |
C |
8: 57,940,345 (GRCm39) |
S86G |
probably damaging |
Het |
Sdk2 |
C |
T |
11: 113,729,472 (GRCm39) |
|
silent |
Het |
Sema3f |
G |
T |
9: 107,561,575 (GRCm39) |
Q500K |
probably damaging |
Het |
Serpinb3d |
T |
C |
1: 107,007,014 (GRCm39) |
I231M |
possibly damaging |
Het |
Sf3a1 |
T |
A |
11: 4,126,678 (GRCm39) |
N563K |
probably benign |
Het |
Sipa1l3 |
A |
G |
7: 29,038,592 (GRCm39) |
S352P |
possibly damaging |
Het |
Slc6a12 |
G |
T |
6: 121,324,402 (GRCm39) |
E9* |
probably null |
Het |
Srebf1 |
T |
C |
11: 60,095,319 (GRCm39) |
D400G |
probably damaging |
Het |
Swsap1 |
T |
C |
9: 21,867,988 (GRCm39) |
Y87H |
probably damaging |
Het |
Tanc2 |
G |
A |
11: 105,813,689 (GRCm39) |
G1711D |
possibly damaging |
Het |
Tas2r107 |
T |
C |
6: 131,636,951 (GRCm39) |
M33V |
probably benign |
Het |
Tdrd9 |
T |
A |
12: 112,030,061 (GRCm39) |
|
probably benign |
Het |
Tdrp |
T |
C |
8: 14,004,079 (GRCm39) |
D86G |
probably damaging |
Het |
Tmem92 |
A |
T |
11: 94,669,501 (GRCm39) |
M106K |
probably benign |
Het |
Tmf1 |
A |
T |
6: 97,138,440 (GRCm39) |
C764S |
possibly damaging |
Het |
Ttc21a |
G |
T |
9: 119,795,823 (GRCm39) |
R1219L |
possibly damaging |
Het |
Ttn |
C |
T |
2: 76,593,792 (GRCm39) |
G18870D |
probably damaging |
Het |
Vmn1r28 |
A |
G |
6: 58,242,912 (GRCm39) |
T252A |
probably benign |
Het |
Xirp2 |
A |
G |
2: 67,346,700 (GRCm39) |
I2980M |
probably damaging |
Het |
Zc2hc1c |
A |
G |
12: 85,337,288 (GRCm39) |
D315G |
probably benign |
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 |
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 |
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'- AATGGGGATGCAGCCATGATC -3'
(R):5'- CCTACTGACAGAGAAGGCAG -3'
Sequencing Primer
(F):5'- GATGCAGCCATGATCCTGTCTG -3'
(R):5'- GCAGCGCCAGTCATGAAC -3'
|
Posted On |
2014-07-14 |