Incidental Mutation 'R2067:Tubgcp6'
| ID |
226792 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tubgcp6
|
| Ensembl Gene |
ENSMUSG00000051786 |
| Gene Name |
tubulin, gamma complex component 6 |
| Synonyms |
|
| MMRRC Submission |
040072-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.963)
|
| Stock # |
R2067 (G1)
|
| Quality Score |
216 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
88983300-89007411 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 88988692 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 803
(E803G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104977
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041656]
[ENSMUST00000082439]
[ENSMUST00000109353]
[ENSMUST00000166480]
|
| AlphaFold |
G5E8P0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000041656
AA Change: E795G
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000040132
Gene: ENSMUSG00000051786
AA Change: E795G
| 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: E803G
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000104977
Gene: ENSMUSG00000051786
AA Change: E803G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Spc97_Spc98
|
355 |
1675 |
2.8e-94 |
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 |
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 |
noncoding transcript
Transcript: ENSMUST00000169208
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000168256
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170877
|
| Meta Mutation Damage Score |
0.2083 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
| Validation Efficiency |
97% (76/78) |
| 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: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9530002B09Rik |
T |
A |
4: 122,583,115 (GRCm39) |
|
probably benign |
Het |
| Abca2 |
A |
T |
2: 25,327,517 (GRCm39) |
I669F |
possibly damaging |
Het |
| Acin1 |
T |
A |
14: 54,902,711 (GRCm39) |
Q360H |
probably damaging |
Het |
| Aldh3b1 |
T |
A |
19: 3,971,755 (GRCm39) |
D72V |
probably benign |
Het |
| Alox12e |
G |
A |
11: 70,206,828 (GRCm39) |
R620W |
probably damaging |
Het |
| Alpl |
T |
C |
4: 137,476,856 (GRCm39) |
|
probably benign |
Het |
| Amy2a1 |
T |
C |
3: 113,324,217 (GRCm39) |
I108V |
probably benign |
Het |
| Ascc2 |
A |
T |
11: 4,631,496 (GRCm39) |
M646L |
probably benign |
Het |
| Bod1l |
G |
A |
5: 41,974,429 (GRCm39) |
T2295M |
probably benign |
Het |
| Ccdc9 |
A |
T |
7: 16,012,475 (GRCm39) |
|
probably null |
Het |
| Clptm1l |
C |
T |
13: 73,755,842 (GRCm39) |
Q153* |
probably null |
Het |
| Csmd1 |
A |
G |
8: 15,950,782 (GRCm39) |
S3476P |
probably benign |
Het |
| Ddias |
A |
T |
7: 92,508,907 (GRCm39) |
M336K |
possibly damaging |
Het |
| Ehd1 |
T |
C |
19: 6,348,108 (GRCm39) |
L362P |
probably benign |
Het |
| Epha1 |
G |
T |
6: 42,342,987 (GRCm39) |
H187Q |
probably benign |
Het |
| Espl1 |
T |
C |
15: 102,207,525 (GRCm39) |
S330P |
probably damaging |
Het |
| Fbln7 |
G |
T |
2: 128,719,386 (GRCm39) |
R61L |
probably damaging |
Het |
| Fbxo41 |
C |
T |
6: 85,455,453 (GRCm39) |
W577* |
probably null |
Het |
| Fgb |
C |
A |
3: 82,956,996 (GRCm39) |
D25Y |
probably benign |
Het |
| Gc |
T |
A |
5: 89,594,376 (GRCm39) |
K37N |
probably damaging |
Het |
| Gfpt1 |
T |
C |
6: 87,034,736 (GRCm39) |
I178T |
probably benign |
Het |
| Gm12695 |
T |
C |
4: 96,657,963 (GRCm39) |
T69A |
probably benign |
Het |
| Gm3944 |
C |
A |
12: 18,903,895 (GRCm39) |
S8* |
probably null |
Het |
| Gm9912 |
T |
C |
3: 148,890,795 (GRCm39) |
T113A |
unknown |
Het |
| Gpr156 |
A |
G |
16: 37,799,113 (GRCm39) |
D109G |
probably benign |
Het |
| Hoxd1 |
A |
T |
2: 74,593,710 (GRCm39) |
T89S |
probably benign |
Het |
| Htt |
C |
T |
5: 34,983,326 (GRCm39) |
T975I |
probably benign |
Het |
| Itpr3 |
G |
A |
17: 27,317,050 (GRCm39) |
M768I |
probably benign |
Het |
| Krt4 |
C |
A |
15: 101,833,099 (GRCm39) |
A3S |
possibly damaging |
Het |
| Mrto4 |
T |
C |
4: 139,076,334 (GRCm39) |
K86E |
probably benign |
Het |
| Mup4 |
T |
A |
4: 59,960,622 (GRCm39) |
|
probably benign |
Het |
| Myh1 |
G |
A |
11: 67,105,446 (GRCm39) |
D1079N |
possibly damaging |
Het |
| Myo1a |
A |
G |
10: 127,541,347 (GRCm39) |
N43D |
probably benign |
Het |
| Napa |
A |
T |
7: 15,849,203 (GRCm39) |
|
probably benign |
Het |
| Ndufa12 |
A |
G |
10: 94,056,569 (GRCm39) |
D99G |
probably damaging |
Het |
| Neb |
A |
G |
2: 52,174,275 (GRCm39) |
I1528T |
probably benign |
Het |
| Nek1 |
T |
C |
8: 61,460,196 (GRCm39) |
S41P |
probably damaging |
Het |
| Nolc1 |
C |
T |
19: 46,072,046 (GRCm39) |
T612M |
probably damaging |
Het |
| Nsun5 |
T |
G |
5: 135,403,926 (GRCm39) |
Y301D |
probably damaging |
Het |
| Oas1g |
T |
C |
5: 121,023,946 (GRCm39) |
E121G |
probably damaging |
Het |
| Or1e1f |
A |
G |
11: 73,855,740 (GRCm39) |
Y102C |
probably damaging |
Het |
| Or2ab1 |
A |
G |
11: 58,488,396 (GRCm39) |
N58S |
probably damaging |
Het |
| Or5d41 |
A |
G |
2: 88,054,818 (GRCm39) |
V186A |
possibly damaging |
Het |
| Or6ae1 |
T |
A |
7: 139,742,822 (GRCm39) |
I14F |
possibly damaging |
Het |
| Or8b46 |
T |
A |
9: 38,450,576 (GRCm39) |
N128K |
probably benign |
Het |
| Or8k38 |
G |
T |
2: 86,488,781 (GRCm39) |
T7K |
probably damaging |
Het |
| Osmr |
T |
C |
15: 6,844,896 (GRCm39) |
N957D |
probably benign |
Het |
| Parn |
G |
A |
16: 13,420,933 (GRCm39) |
S473L |
probably damaging |
Het |
| Phc2 |
T |
C |
4: 128,640,929 (GRCm39) |
F672S |
probably damaging |
Het |
| Pik3c2b |
T |
C |
1: 133,027,349 (GRCm39) |
S1283P |
probably damaging |
Het |
| Pole2 |
G |
A |
12: 69,274,926 (GRCm39) |
R5W |
probably benign |
Het |
| Prl7a2 |
T |
A |
13: 27,844,870 (GRCm39) |
Y172F |
probably damaging |
Het |
| Ptprz1 |
A |
G |
6: 23,050,388 (GRCm39) |
|
probably benign |
Het |
| Rapgef3 |
C |
A |
15: 97,664,842 (GRCm39) |
G7V |
probably damaging |
Het |
| Ripor1 |
T |
A |
8: 106,344,340 (GRCm39) |
S491R |
probably benign |
Het |
| Rnf141 |
A |
G |
7: 110,420,572 (GRCm39) |
|
probably benign |
Het |
| Ryr3 |
C |
T |
2: 112,777,302 (GRCm39) |
R285Q |
probably damaging |
Het |
| Sall4 |
T |
C |
2: 168,598,465 (GRCm39) |
N125S |
probably benign |
Het |
| Schip1 |
A |
G |
3: 68,525,119 (GRCm39) |
K360R |
probably damaging |
Het |
| Senp6 |
T |
A |
9: 79,997,151 (GRCm39) |
V55E |
probably benign |
Het |
| Skint1 |
T |
A |
4: 111,882,730 (GRCm39) |
V258D |
probably benign |
Het |
| Slc25a16 |
T |
A |
10: 62,768,530 (GRCm39) |
H130Q |
probably benign |
Het |
| Styx |
T |
C |
14: 45,611,020 (GRCm39) |
V217A |
probably benign |
Het |
| Syne2 |
G |
A |
12: 75,935,116 (GRCm39) |
|
probably null |
Het |
| Tagap1 |
A |
G |
17: 7,224,259 (GRCm39) |
S146P |
probably benign |
Het |
| Tatdn2 |
A |
G |
6: 113,681,103 (GRCm39) |
K379E |
probably benign |
Het |
| Thrap3 |
T |
C |
4: 126,069,189 (GRCm39) |
Y654C |
possibly damaging |
Het |
| Tle2 |
T |
C |
10: 81,416,385 (GRCm39) |
L135P |
probably damaging |
Het |
| Tmc1 |
A |
G |
19: 20,801,673 (GRCm39) |
F451S |
possibly damaging |
Het |
| Trpm7 |
G |
A |
2: 126,639,647 (GRCm39) |
P1650S |
probably damaging |
Het |
| Ttll4 |
G |
A |
1: 74,719,541 (GRCm39) |
R16H |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,544,717 (GRCm39) |
N32795S |
probably damaging |
Het |
| Ubr2 |
A |
G |
17: 47,274,071 (GRCm39) |
|
probably null |
Het |
| Ugt2b35 |
A |
G |
5: 87,149,412 (GRCm39) |
D221G |
probably damaging |
Het |
| Unc45b |
G |
A |
11: 82,802,515 (GRCm39) |
A4T |
probably benign |
Het |
| Vmn1r70 |
A |
T |
7: 10,368,264 (GRCm39) |
I251F |
possibly damaging |
Het |
| Vmn2r120 |
T |
A |
17: 57,831,553 (GRCm39) |
H412L |
possibly damaging |
Het |
| Zfp59 |
A |
G |
7: 27,552,935 (GRCm39) |
N129S |
probably benign |
Het |
| Zgrf1 |
T |
C |
3: 127,406,999 (GRCm39) |
C1589R |
probably 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 |
|
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'- CAGGACCTGTAGATGTGACCTG -3'
(R):5'- CCTGTTGCATAAGGGGACAG -3'
Sequencing Primer
(F):5'- GACCTGTAGATGTGACCTGAAACAC -3'
(R):5'- GGACAGATGGCACTTGCTG -3'
|
| Posted On |
2014-09-17 |
Incidental Mutation