Incidental Mutation 'R9402:Tubgcp6'
ID |
711313 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tubgcp6
|
Ensembl Gene |
ENSMUSG00000051786 |
Gene Name |
tubulin, gamma complex component 6 |
Synonyms |
|
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.963)
|
Stock # |
R9402 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
88983300-89007411 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 88987064 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 1303
(V1303A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000104977
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041656]
[ENSMUST00000082439]
[ENSMUST00000109353]
[ENSMUST00000130700]
[ENSMUST00000166480]
|
AlphaFold |
G5E8P0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000041656
AA Change: V1295A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000040132 Gene: ENSMUSG00000051786 AA Change: V1295A
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 benign
Transcript: ENSMUST00000109353
AA Change: V1303A
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000104977 Gene: ENSMUSG00000051786 AA Change: V1303A
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 |
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 |
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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
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: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca9 |
T |
A |
11: 110,049,154 (GRCm39) |
Q218L |
probably benign |
Het |
Atg2b |
A |
G |
12: 105,614,682 (GRCm39) |
F1083S |
probably damaging |
Het |
Bche |
T |
C |
3: 73,608,656 (GRCm39) |
N257D |
probably benign |
Het |
Cfap221 |
T |
A |
1: 119,860,551 (GRCm39) |
M692L |
probably benign |
Het |
Cfap46 |
G |
T |
7: 139,215,865 (GRCm39) |
P1530Q |
unknown |
Het |
Crim1 |
CCGC |
CC |
17: 78,658,294 (GRCm39) |
|
probably null |
Het |
Cyp4f39 |
T |
C |
17: 32,710,183 (GRCm39) |
|
probably null |
Het |
Daam1 |
A |
G |
12: 72,006,604 (GRCm39) |
T674A |
probably benign |
Het |
Elp2 |
A |
T |
18: 24,759,220 (GRCm39) |
I526L |
probably benign |
Het |
Exoc4 |
T |
A |
6: 33,453,078 (GRCm39) |
*523K |
probably null |
Het |
Fbxl7 |
G |
A |
15: 26,552,589 (GRCm39) |
S226L |
probably damaging |
Het |
Fbxl9 |
T |
A |
8: 106,049,988 (GRCm39) |
Y12F |
probably benign |
Het |
Fry |
G |
A |
5: 150,357,161 (GRCm39) |
E1903K |
possibly damaging |
Het |
Fry |
G |
A |
5: 150,360,318 (GRCm39) |
R1988K |
probably damaging |
Het |
Gas1 |
A |
T |
13: 60,324,016 (GRCm39) |
M206K |
probably damaging |
Het |
Gbp10 |
T |
A |
5: 105,381,863 (GRCm39) |
T96S |
possibly damaging |
Het |
Gm14569 |
G |
A |
X: 35,694,549 (GRCm39) |
P1387S |
probably damaging |
Het |
Gpaa1 |
A |
G |
15: 76,216,418 (GRCm39) |
T105A |
probably benign |
Het |
Hoxc13 |
C |
A |
15: 102,830,051 (GRCm39) |
C143* |
probably null |
Het |
Htt |
T |
C |
5: 35,006,324 (GRCm39) |
I1411T |
probably damaging |
Het |
Inava |
T |
G |
1: 136,155,348 (GRCm39) |
S86R |
probably benign |
Het |
Jmy |
C |
T |
13: 93,635,678 (GRCm39) |
C46Y |
probably damaging |
Het |
Klhl40 |
A |
G |
9: 121,609,482 (GRCm39) |
Y453C |
possibly damaging |
Het |
Krit1 |
T |
A |
5: 3,872,210 (GRCm39) |
Y460N |
possibly damaging |
Het |
Lamb3 |
C |
A |
1: 193,013,704 (GRCm39) |
T526K |
|
Het |
Luzp1 |
T |
A |
4: 136,270,493 (GRCm39) |
H905Q |
probably damaging |
Het |
Lyst |
T |
A |
13: 13,812,463 (GRCm39) |
H958Q |
probably benign |
Het |
Magi1 |
T |
C |
6: 94,260,278 (GRCm39) |
N9S |
probably benign |
Het |
Mmadhc |
A |
T |
2: 50,171,119 (GRCm39) |
V231E |
probably benign |
Het |
Muc5b |
T |
A |
7: 141,399,151 (GRCm39) |
M364K |
unknown |
Het |
Nae1 |
A |
G |
8: 105,254,817 (GRCm39) |
|
probably null |
Het |
Ndst4 |
C |
T |
3: 125,518,385 (GRCm39) |
S354L |
probably benign |
Het |
Nlgn2 |
A |
G |
11: 69,718,933 (GRCm39) |
F252S |
|
Het |
Nlrp9a |
A |
T |
7: 26,270,030 (GRCm39) |
N874I |
possibly damaging |
Het |
Nodal |
T |
C |
10: 61,259,379 (GRCm39) |
I272T |
probably damaging |
Het |
Or4a15 |
C |
A |
2: 89,193,123 (GRCm39) |
G217* |
probably null |
Het |
Or4c12 |
A |
T |
2: 89,774,284 (GRCm39) |
Y58* |
probably null |
Het |
Or51a24 |
G |
A |
7: 103,733,610 (GRCm39) |
R226* |
probably null |
Het |
Or52ab4 |
T |
C |
7: 102,988,196 (GRCm39) |
S312P |
probably benign |
Het |
Orm1 |
C |
A |
4: 63,263,369 (GRCm39) |
Q61K |
possibly damaging |
Het |
Pcdh17 |
T |
C |
14: 84,684,646 (GRCm39) |
V371A |
probably damaging |
Het |
Pcdhb19 |
C |
T |
18: 37,632,532 (GRCm39) |
Q776* |
probably null |
Het |
Phf14 |
A |
G |
6: 11,933,779 (GRCm39) |
R214G |
possibly damaging |
Het |
Phf3 |
G |
A |
1: 30,850,928 (GRCm39) |
T1142M |
probably damaging |
Het |
Pigz |
A |
G |
16: 31,764,187 (GRCm39) |
E415G |
probably damaging |
Het |
Pramel5 |
T |
C |
4: 143,998,026 (GRCm39) |
T406A |
probably benign |
Het |
Prtg |
A |
G |
9: 72,819,253 (GRCm39) |
E1082G |
probably benign |
Het |
Rtp3 |
A |
G |
9: 110,815,031 (GRCm39) |
C445R |
unknown |
Het |
Scn3b |
A |
T |
9: 40,193,852 (GRCm39) |
E193V |
probably damaging |
Het |
Scn7a |
A |
T |
2: 66,510,456 (GRCm39) |
N1315K |
probably damaging |
Het |
Snx14 |
C |
T |
9: 88,289,490 (GRCm39) |
G254D |
probably damaging |
Het |
Srbd1 |
T |
C |
17: 86,406,705 (GRCm39) |
D560G |
probably benign |
Het |
Srp72 |
T |
A |
5: 77,124,329 (GRCm39) |
L65* |
probably null |
Het |
Steap1 |
T |
A |
5: 5,790,664 (GRCm39) |
I95F |
|
Het |
Taf3 |
A |
G |
2: 9,955,923 (GRCm39) |
|
probably null |
Het |
Taok2 |
T |
C |
7: 126,469,400 (GRCm39) |
N1143D |
|
Het |
Tas2r114 |
C |
T |
6: 131,666,894 (GRCm39) |
G45S |
possibly damaging |
Het |
Tcerg1l |
T |
C |
7: 137,811,551 (GRCm39) |
K548E |
probably damaging |
Het |
Tcp1 |
T |
A |
17: 13,141,505 (GRCm39) |
L328Q |
probably benign |
Het |
Tns2 |
A |
G |
15: 102,021,623 (GRCm39) |
H1096R |
probably damaging |
Het |
Trps1 |
A |
T |
15: 50,709,652 (GRCm39) |
Y233N |
probably damaging |
Het |
Ugt1a2 |
T |
C |
1: 88,128,684 (GRCm39) |
F109S |
possibly damaging |
Het |
Vmn1r43 |
G |
A |
6: 89,846,877 (GRCm39) |
T203M |
probably damaging |
Het |
Zfp748 |
A |
G |
13: 67,693,511 (GRCm39) |
V54A |
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 |
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 |
R9428:Tubgcp6
|
UTSW |
15 |
88,985,100 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- CTGCTTGAGAAGACCTAGTGAGAC -3'
(R):5'- TGATTCTGGAGGAGCCCTTG -3'
Sequencing Primer
(F):5'- AAGACCTAGTGAGACTGGCCC -3'
(R):5'- AGCCCTTGCCAGAAGCTGAG -3'
|
Posted On |
2022-05-16 |