Incidental Mutation 'IGL02596:Tubgcp6'
ID |
299873 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Tubgcp6
|
Ensembl Gene |
ENSMUSG00000051786 |
Gene Name |
tubulin, gamma complex component 6 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.963)
|
Stock # |
IGL02596
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
88983300-89007411 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 88985117 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Valine
at position 1657
(E1657V)
|
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: E1649V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000040132 Gene: ENSMUSG00000051786 AA Change: E1649V
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: E1657V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000104977 Gene: ENSMUSG00000051786 AA Change: E1657V
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
|
Coding Region Coverage |
|
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: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310002L09Rik |
T |
G |
4: 73,868,904 (GRCm39) |
Q11H |
possibly damaging |
Het |
Armcx5 |
T |
A |
X: 134,647,268 (GRCm39) |
I448K |
probably damaging |
Het |
Atp4b |
T |
A |
8: 13,443,471 (GRCm39) |
Y69F |
possibly damaging |
Het |
Ccdc7b |
T |
A |
8: 129,798,959 (GRCm39) |
V12E |
probably benign |
Het |
Cdc5l |
C |
A |
17: 45,735,530 (GRCm39) |
|
probably benign |
Het |
Clptm1l |
C |
T |
13: 73,761,785 (GRCm39) |
R330C |
probably benign |
Het |
Cpq |
C |
T |
15: 33,213,160 (GRCm39) |
R60W |
probably damaging |
Het |
Cpvl |
T |
C |
6: 53,908,995 (GRCm39) |
Y256C |
probably damaging |
Het |
Cryzl2 |
A |
T |
1: 157,292,539 (GRCm39) |
D107V |
probably damaging |
Het |
Cyp2e1 |
G |
A |
7: 140,350,031 (GRCm39) |
V239M |
probably damaging |
Het |
Cyp2j7 |
T |
A |
4: 96,103,659 (GRCm39) |
D292V |
possibly damaging |
Het |
Dcaf1 |
A |
G |
9: 106,740,220 (GRCm39) |
Y1202C |
probably damaging |
Het |
Dnah3 |
T |
C |
7: 119,538,137 (GRCm39) |
N3616S |
probably benign |
Het |
Enam |
A |
G |
5: 88,650,885 (GRCm39) |
D723G |
probably benign |
Het |
Eps8l1 |
G |
A |
7: 4,473,871 (GRCm39) |
R226H |
probably damaging |
Het |
Erich2 |
A |
G |
2: 70,343,147 (GRCm39) |
|
probably benign |
Het |
Esyt3 |
A |
C |
9: 99,210,068 (GRCm39) |
L271V |
probably benign |
Het |
Fer1l4 |
T |
C |
2: 155,881,052 (GRCm39) |
N838S |
probably benign |
Het |
Gad1 |
T |
C |
2: 70,425,028 (GRCm39) |
Y441H |
probably damaging |
Het |
Gja1 |
G |
T |
10: 56,264,348 (GRCm39) |
V236F |
possibly damaging |
Het |
Gpr156 |
T |
C |
16: 37,799,086 (GRCm39) |
I100T |
probably benign |
Het |
Hace1 |
A |
G |
10: 45,576,736 (GRCm39) |
T803A |
possibly damaging |
Het |
Jagn1 |
G |
A |
6: 113,424,562 (GRCm39) |
V145I |
probably benign |
Het |
Kdm4b |
C |
A |
17: 56,706,706 (GRCm39) |
T899K |
probably benign |
Het |
Klk1b8 |
G |
A |
7: 43,602,187 (GRCm39) |
V40M |
probably damaging |
Het |
Lyst |
G |
A |
13: 13,835,541 (GRCm39) |
C1741Y |
probably benign |
Het |
Mast1 |
G |
T |
8: 85,644,400 (GRCm39) |
A843E |
probably benign |
Het |
Mbd1 |
T |
A |
18: 74,409,868 (GRCm39) |
|
probably benign |
Het |
Mdga1 |
A |
G |
17: 30,051,379 (GRCm39) |
|
probably benign |
Het |
Mlh3 |
A |
G |
12: 85,287,732 (GRCm39) |
|
probably null |
Het |
Or10ag53 |
C |
A |
2: 87,082,473 (GRCm39) |
T64K |
probably damaging |
Het |
Or5b109 |
A |
T |
19: 13,211,763 (GRCm39) |
I50F |
probably damaging |
Het |
Pwp1 |
A |
G |
10: 85,707,882 (GRCm39) |
|
probably null |
Het |
Rbm12 |
C |
T |
2: 155,937,480 (GRCm39) |
|
probably benign |
Het |
Slc12a7 |
T |
A |
13: 73,933,242 (GRCm39) |
V100E |
probably benign |
Het |
Spata31e2 |
T |
A |
1: 26,723,083 (GRCm39) |
H699L |
probably benign |
Het |
Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
Tgfb1i1 |
T |
A |
7: 127,848,068 (GRCm39) |
M1K |
probably null |
Het |
Zfp770 |
A |
G |
2: 114,026,308 (GRCm39) |
V587A |
probably benign |
Het |
Zxdc |
A |
G |
6: 90,350,691 (GRCm39) |
|
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 |
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 |
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 |
|
Posted On |
2015-04-16 |