Incidental Mutation 'R1653:Tubgcp6'
| ID |
188883 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tubgcp6
|
| Ensembl Gene |
ENSMUSG00000051786 |
| Gene Name |
tubulin, gamma complex associated protein 6 |
| Synonyms |
|
| MMRRC Submission |
039689-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.966)
|
| Stock # |
R1653 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
89098357-89123112 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 89107442 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 651
(R651C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104977
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041656]
[ENSMUST00000109353]
|
| AlphaFold |
G5E8P0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000041656
AA Change: R651C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000040132
Gene: ENSMUSG00000051786
AA Change: R651C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Spc97_Spc98
|
355 |
1667 |
3.3e-119 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000109353
AA Change: R651C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000104977
Gene: ENSMUSG00000051786
AA Change: R651C
| 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 |
probably benign
Transcript: ENSMUST00000169069
|
| SMART Domains |
Protein: ENSMUSP00000132786
Gene: ENSMUSG00000051786
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
77 |
107 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.4%
- 20x: 92.7%
|
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9130019O22Rik |
G |
T |
7: 127,384,480 (GRCm38) |
H483Q |
possibly damaging |
Het |
| Adam34 |
A |
T |
8: 43,650,645 (GRCm38) |
C654* |
probably null |
Het |
| Adamts19 |
T |
A |
18: 58,890,293 (GRCm38) |
N253K |
probably benign |
Het |
| Adgrb3 |
A |
G |
1: 25,101,503 (GRCm38) |
L1162S |
probably benign |
Het |
| Ap2b1 |
T |
A |
11: 83,346,831 (GRCm38) |
Y574N |
probably damaging |
Het |
| Atrn |
A |
G |
2: 130,935,624 (GRCm38) |
I198V |
probably benign |
Het |
| Bcan |
T |
A |
3: 87,994,196 (GRCm38) |
I400F |
probably damaging |
Het |
| Capn10 |
A |
G |
1: 92,946,898 (GRCm38) |
Y617C |
probably damaging |
Het |
| Capn8 |
A |
G |
1: 182,623,951 (GRCm38) |
N578D |
probably benign |
Het |
| Casd1 |
T |
C |
6: 4,624,134 (GRCm38) |
L309P |
probably benign |
Het |
| Ccser1 |
T |
A |
6: 61,311,465 (GRCm38) |
I204K |
probably benign |
Het |
| Cd276 |
T |
C |
9: 58,537,449 (GRCm38) |
T80A |
probably benign |
Het |
| Cdh3 |
T |
C |
8: 106,539,068 (GRCm38) |
S248P |
probably damaging |
Het |
| Celsr2 |
T |
C |
3: 108,413,520 (GRCm38) |
T659A |
possibly damaging |
Het |
| Col6a4 |
C |
T |
9: 106,072,409 (GRCm38) |
V676I |
probably damaging |
Het |
| Crmp1 |
T |
A |
5: 37,286,468 (GRCm38) |
V575D |
probably damaging |
Het |
| Ep400 |
G |
A |
5: 110,693,174 (GRCm38) |
Q1795* |
probably null |
Het |
| Gcnt3 |
A |
G |
9: 70,035,077 (GRCm38) |
C70R |
probably damaging |
Het |
| Gm12258 |
T |
C |
11: 58,858,287 (GRCm38) |
I96T |
possibly damaging |
Het |
| Gpr183 |
A |
G |
14: 121,954,263 (GRCm38) |
F282S |
probably damaging |
Het |
| Igfals |
T |
C |
17: 24,881,078 (GRCm38) |
V381A |
probably benign |
Het |
| Irs3 |
C |
A |
5: 137,644,521 (GRCm38) |
L218F |
probably damaging |
Het |
| Kdm5b |
T |
C |
1: 134,602,481 (GRCm38) |
F410S |
probably damaging |
Het |
| Klc4 |
T |
C |
17: 46,631,859 (GRCm38) |
Y593C |
possibly damaging |
Het |
| Lce1h |
T |
A |
3: 92,763,443 (GRCm38) |
Q134L |
unknown |
Het |
| Lyst |
T |
C |
13: 13,635,226 (GRCm38) |
S494P |
probably damaging |
Het |
| March3 |
A |
G |
18: 56,811,895 (GRCm38) |
M42T |
probably benign |
Het |
| Myh7 |
A |
G |
14: 54,990,789 (GRCm38) |
I250T |
probably benign |
Het |
| N4bp1 |
G |
T |
8: 86,844,948 (GRCm38) |
H807Q |
probably benign |
Het |
| Ndn |
C |
T |
7: 62,348,508 (GRCm38) |
P34L |
probably benign |
Het |
| Nfs1 |
C |
T |
2: 156,125,336 (GRCm38) |
G44D |
probably damaging |
Het |
| Nrg1 |
C |
T |
8: 31,818,653 (GRCm38) |
R445H |
probably damaging |
Het |
| Olfr1507 |
A |
T |
14: 52,490,772 (GRCm38) |
F64Y |
probably damaging |
Het |
| Olfr299 |
T |
C |
7: 86,466,212 (GRCm38) |
V267A |
probably benign |
Het |
| Olfr683 |
T |
A |
7: 105,143,870 (GRCm38) |
D141V |
possibly damaging |
Het |
| Pak7 |
C |
T |
2: 136,116,887 (GRCm38) |
V94M |
probably damaging |
Het |
| Pdk1 |
G |
A |
2: 71,888,995 (GRCm38) |
|
probably null |
Het |
| Sin3b |
G |
T |
8: 72,741,519 (GRCm38) |
V290L |
probably benign |
Het |
| Sirt1 |
T |
C |
10: 63,321,809 (GRCm38) |
T609A |
probably benign |
Het |
| Skint5 |
A |
T |
4: 113,490,678 (GRCm38) |
S1289T |
unknown |
Het |
| Slc32a1 |
A |
T |
2: 158,614,889 (GRCm38) |
H488L |
probably benign |
Het |
| Slc35b3 |
A |
G |
13: 38,955,798 (GRCm38) |
S18P |
probably benign |
Het |
| Spaca7 |
T |
A |
8: 12,586,501 (GRCm38) |
I109K |
possibly damaging |
Het |
| Tmem204 |
A |
G |
17: 25,080,527 (GRCm38) |
L6P |
possibly damaging |
Het |
| Vps13b |
T |
A |
15: 35,607,272 (GRCm38) |
L1117* |
probably null |
Het |
| Wdcp |
T |
C |
12: 4,851,815 (GRCm38) |
L557P |
probably damaging |
Het |
| Wwp2 |
T |
C |
8: 107,483,410 (GRCm38) |
F140S |
possibly damaging |
Het |
| Zfp429 |
C |
T |
13: 67,389,924 (GRCm38) |
R467H |
possibly damaging |
Het |
| Zfp839 |
T |
A |
12: 110,855,250 (GRCm38) |
M166K |
probably benign |
Het |
| Zfyve9 |
G |
A |
4: 108,660,577 (GRCm38) |
Q1106* |
probably null |
Het |
| Zrsr1 |
T |
A |
11: 22,974,158 (GRCm38) |
C311S |
probably damaging |
Het |
|
| Other mutations in Tubgcp6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00417:Tubgcp6
|
APN |
15 |
89,104,008 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL00556:Tubgcp6
|
APN |
15 |
89,100,962 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL00943:Tubgcp6
|
APN |
15 |
89,122,397 (GRCm38) |
nonsense |
probably null |
|
|
IGL01284:Tubgcp6
|
APN |
15 |
89,110,055 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01363:Tubgcp6
|
APN |
15 |
89,107,525 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01386:Tubgcp6
|
APN |
15 |
89,107,996 (GRCm38) |
nonsense |
probably null |
|
|
IGL01792:Tubgcp6
|
APN |
15 |
89,101,281 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01866:Tubgcp6
|
APN |
15 |
89,103,488 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL02596:Tubgcp6
|
APN |
15 |
89,100,914 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02858:Tubgcp6
|
APN |
15 |
89,102,315 (GRCm38) |
nonsense |
probably null |
|
|
IGL02873:Tubgcp6
|
APN |
15 |
89,103,824 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL03400:Tubgcp6
|
APN |
15 |
89,108,099 (GRCm38) |
unclassified |
probably benign |
|
|
IGL02796:Tubgcp6
|
UTSW |
15 |
89,122,390 (GRCm38) |
missense |
probably benign |
0.03 |
|
R0010:Tubgcp6
|
UTSW |
15 |
89,103,183 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0308:Tubgcp6
|
UTSW |
15 |
89,122,436 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
R0440:Tubgcp6
|
UTSW |
15 |
89,103,065 (GRCm38) |
missense |
probably benign |
0.12 |
|
R0631:Tubgcp6
|
UTSW |
15 |
89,100,987 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1901:Tubgcp6
|
UTSW |
15 |
89,116,241 (GRCm38) |
missense |
possibly damaging |
0.68 |
|
R1902:Tubgcp6
|
UTSW |
15 |
89,116,241 (GRCm38) |
missense |
possibly damaging |
0.68 |
|
R1905:Tubgcp6
|
UTSW |
15 |
89,100,608 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2005:Tubgcp6
|
UTSW |
15 |
89,104,166 (GRCm38) |
missense |
probably benign |
0.01 |
|
R2067:Tubgcp6
|
UTSW |
15 |
89,104,489 (GRCm38) |
missense |
probably benign |
0.03 |
|
R2083:Tubgcp6
|
UTSW |
15 |
89,122,376 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2285:Tubgcp6
|
UTSW |
15 |
89,122,474 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2401:Tubgcp6
|
UTSW |
15 |
89,102,984 (GRCm38) |
missense |
probably benign |
0.22 |
|
R2436:Tubgcp6
|
UTSW |
15 |
89,102,365 (GRCm38) |
missense |
probably benign |
0.37 |
|
R3017:Tubgcp6
|
UTSW |
15 |
89,103,082 (GRCm38) |
nonsense |
probably null |
|
|
R3054:Tubgcp6
|
UTSW |
15 |
89,122,603 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3932:Tubgcp6
|
UTSW |
15 |
89,104,414 (GRCm38) |
unclassified |
probably benign |
|
|
R4350:Tubgcp6
|
UTSW |
15 |
89,103,995 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4472:Tubgcp6
|
UTSW |
15 |
89,103,654 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R4864:Tubgcp6
|
UTSW |
15 |
89,103,818 (GRCm38) |
missense |
probably benign |
|
|
R4937:Tubgcp6
|
UTSW |
15 |
89,101,549 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R4983:Tubgcp6
|
UTSW |
15 |
89,106,291 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4996:Tubgcp6
|
UTSW |
15 |
89,103,490 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R5044:Tubgcp6
|
UTSW |
15 |
89,099,545 (GRCm38) |
unclassified |
probably benign |
|
|
R5122:Tubgcp6
|
UTSW |
15 |
89,116,103 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5607:Tubgcp6
|
UTSW |
15 |
89,111,150 (GRCm38) |
missense |
probably benign |
0.02 |
|
R5608:Tubgcp6
|
UTSW |
15 |
89,111,150 (GRCm38) |
missense |
probably benign |
0.02 |
|
R5653:Tubgcp6
|
UTSW |
15 |
89,108,612 (GRCm38) |
missense |
possibly damaging |
0.47 |
|
R5886:Tubgcp6
|
UTSW |
15 |
89,103,247 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R5945:Tubgcp6
|
UTSW |
15 |
89,109,217 (GRCm38) |
splice site |
probably null |
|
|
R6111:Tubgcp6
|
UTSW |
15 |
89,100,920 (GRCm38) |
missense |
possibly damaging |
0.83 |
|
R6195:Tubgcp6
|
UTSW |
15 |
89,122,791 (GRCm38) |
missense |
probably benign |
0.01 |
|
R6792:Tubgcp6
|
UTSW |
15 |
89,122,877 (GRCm38) |
start gained |
probably benign |
|
|
R7074:Tubgcp6
|
UTSW |
15 |
89,120,636 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7103:Tubgcp6
|
UTSW |
15 |
89,101,029 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R7274:Tubgcp6
|
UTSW |
15 |
89,102,970 (GRCm38) |
nonsense |
probably null |
|
|
R7275:Tubgcp6
|
UTSW |
15 |
89,102,943 (GRCm38) |
nonsense |
probably null |
|
|
R7514:Tubgcp6
|
UTSW |
15 |
89,120,525 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7540:Tubgcp6
|
UTSW |
15 |
89,102,323 (GRCm38) |
missense |
possibly damaging |
0.48 |
|
R7571:Tubgcp6
|
UTSW |
15 |
89,100,722 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7706:Tubgcp6
|
UTSW |
15 |
89,104,223 (GRCm38) |
missense |
probably benign |
|
|
R7721:Tubgcp6
|
UTSW |
15 |
89,101,401 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7980:Tubgcp6
|
UTSW |
15 |
89,102,029 (GRCm38) |
missense |
probably benign |
0.03 |
|
R7996:Tubgcp6
|
UTSW |
15 |
89,109,028 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R8095:Tubgcp6
|
UTSW |
15 |
89,122,774 (GRCm38) |
missense |
probably benign |
0.07 |
|
R8191:Tubgcp6
|
UTSW |
15 |
89,120,640 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8510:Tubgcp6
|
UTSW |
15 |
89,102,949 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R8839:Tubgcp6
|
UTSW |
15 |
89,103,478 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R8862:Tubgcp6
|
UTSW |
15 |
89,122,621 (GRCm38) |
missense |
probably benign |
0.03 |
|
R9044:Tubgcp6
|
UTSW |
15 |
89,103,194 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R9321:Tubgcp6
|
UTSW |
15 |
89,107,983 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9402:Tubgcp6
|
UTSW |
15 |
89,102,861 (GRCm38) |
missense |
probably benign |
0.01 |
|
R9428:Tubgcp6
|
UTSW |
15 |
89,100,897 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAACCACTGTGCCTGACTGACTG -3'
(R):5'- TGGCTGTCTGTATCCCTCACTGAAG -3'
Sequencing Primer
(F):5'- gactgactgcccacatcc -3'
(R):5'- GTATCCCTCACTGAAGACTCAGTAG -3'
|
| Posted On |
2014-05-09 |
Incidental Mutation