Incidental Mutation 'R2401:Tubgcp6'
| ID |
248707 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tubgcp6
|
| Ensembl Gene |
ENSMUSG00000051786 |
| Gene Name |
tubulin, gamma complex component 6 |
| Synonyms |
|
| MMRRC Submission |
040367-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.963)
|
| Stock # |
R2401 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
88983300-89007411 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 88987187 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 1262
(L1262P)
|
| 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: L1254P
PolyPhen 2
Score 0.139 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000040132
Gene: ENSMUSG00000051786
AA Change: L1254P
| 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: L1262P
PolyPhen 2
Score 0.224 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000104977
Gene: ENSMUSG00000051786
AA Change: L1262P
| 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: ENSMUST00000168256
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000169208
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170877
|
| 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 |
|
| Meta Mutation Damage Score |
0.1092 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.0%
|
| Validation Efficiency |
100% (40/40) |
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca14 |
T |
C |
7: 119,882,312 (GRCm39) |
L1158P |
probably damaging |
Het |
| Acnat1 |
A |
T |
4: 49,451,077 (GRCm39) |
N11K |
possibly damaging |
Het |
| Ammecr1l |
T |
A |
18: 31,909,056 (GRCm39) |
I217N |
possibly damaging |
Het |
| Ankrd11 |
G |
A |
8: 123,635,473 (GRCm39) |
R54* |
probably null |
Het |
| Ccdc178 |
C |
T |
18: 22,264,471 (GRCm39) |
|
probably null |
Het |
| Clcn7 |
T |
C |
17: 25,372,114 (GRCm39) |
S425P |
probably benign |
Het |
| Cnmd |
A |
G |
14: 79,894,045 (GRCm39) |
V114A |
probably damaging |
Het |
| Col13a1 |
T |
C |
10: 61,686,941 (GRCm39) |
T651A |
unknown |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
| Cyp3a25 |
T |
C |
5: 145,923,778 (GRCm39) |
|
probably null |
Het |
| Dmrta1 |
A |
T |
4: 89,579,853 (GRCm39) |
D271V |
probably benign |
Het |
| Efcab3 |
T |
A |
11: 104,963,144 (GRCm39) |
|
probably null |
Het |
| Exo5 |
T |
C |
4: 120,779,194 (GRCm39) |
I224V |
probably damaging |
Het |
| Fam162b |
C |
A |
10: 51,463,314 (GRCm39) |
A118S |
probably damaging |
Het |
| Glb1 |
A |
G |
9: 114,283,325 (GRCm39) |
T406A |
possibly damaging |
Het |
| Grk3 |
T |
C |
5: 113,062,849 (GRCm39) |
N666S |
probably benign |
Het |
| Hars2 |
T |
C |
18: 36,922,576 (GRCm39) |
F370L |
possibly damaging |
Het |
| Ighv8-11 |
T |
G |
12: 115,531,223 (GRCm39) |
|
probably benign |
Het |
| Iho1 |
G |
T |
9: 108,290,205 (GRCm39) |
T133N |
possibly damaging |
Het |
| Inpp4b |
A |
T |
8: 82,723,968 (GRCm39) |
D500V |
probably benign |
Het |
| Itgb4 |
A |
G |
11: 115,897,389 (GRCm39) |
D1534G |
possibly damaging |
Het |
| Kcnk2 |
G |
C |
1: 189,072,214 (GRCm39) |
T38S |
possibly damaging |
Het |
| Kif16b |
C |
T |
2: 142,598,042 (GRCm39) |
V527I |
probably benign |
Het |
| Kmt2b |
A |
G |
7: 30,276,133 (GRCm39) |
Y1789H |
probably damaging |
Het |
| Lpl |
A |
C |
8: 69,353,895 (GRCm39) |
D412A |
possibly damaging |
Het |
| Lrrc27 |
T |
G |
7: 138,803,529 (GRCm39) |
L151R |
probably damaging |
Het |
| Muc17 |
T |
C |
5: 137,190,980 (GRCm39) |
|
probably benign |
Het |
| Nup205 |
T |
A |
6: 35,185,069 (GRCm39) |
Y829* |
probably null |
Het |
| Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
| Olfm4 |
A |
G |
14: 80,259,192 (GRCm39) |
Y447C |
probably damaging |
Het |
| Or4f57 |
T |
C |
2: 111,790,494 (GRCm39) |
Y308C |
probably benign |
Het |
| Pcdhb6 |
T |
C |
18: 37,468,222 (GRCm39) |
V381A |
probably benign |
Het |
| Prmt2 |
C |
T |
10: 76,061,249 (GRCm39) |
W79* |
probably null |
Het |
| Skic2 |
T |
C |
17: 35,059,361 (GRCm39) |
M1029V |
probably benign |
Het |
| Stil |
A |
G |
4: 114,873,483 (GRCm39) |
R369G |
probably null |
Het |
| Ttc41 |
T |
C |
10: 86,560,238 (GRCm39) |
I387T |
probably benign |
Het |
| Vmn2r112 |
T |
A |
17: 22,822,096 (GRCm39) |
V258E |
probably damaging |
Het |
| Zfp804b |
T |
C |
5: 6,819,445 (GRCm39) |
H1206R |
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 |
|
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 |
|
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'- CCTTTCCAGAATGCCACAGTCC -3'
(R):5'- AATGTCCACGGGCATGTGTC -3'
Sequencing Primer
(F):5'- TGCCACAGTCCCACCCTG -3'
(R):5'- CATGTGTCAGATGCCAGTATTAG -3'
|
| Posted On |
2014-11-11 |
Incidental Mutation