Incidental Mutation 'R0308:Tubgcp6'
| ID |
24999 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tubgcp6
|
| Ensembl Gene |
ENSMUSG00000051786 |
| Gene Name |
tubulin, gamma complex component 6 |
| Synonyms |
|
| MMRRC Submission |
038518-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.963)
|
| Stock # |
R0308 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
88983300-89007411 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 89006639 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glycine
at position 128
(R128G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104977
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041656]
[ENSMUST00000082197]
[ENSMUST00000109347]
[ENSMUST00000109353]
|
| AlphaFold |
G5E8P0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000041656
AA Change: R128G
PolyPhen 2
Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000040132
Gene: ENSMUSG00000051786
AA Change: R128G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Spc97_Spc98
|
355 |
1667 |
3.3e-119 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000082197
|
| SMART Domains |
Protein: ENSMUSP00000080832
Gene: ENSMUSG00000062906
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Hist_deacetyl
|
13 |
322 |
2.1e-85 |
PFAM |
|
low complexity region
|
478 |
489 |
N/A |
INTRINSIC |
|
low complexity region
|
583 |
595 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109347
|
| SMART Domains |
Protein: ENSMUSP00000104971
Gene: ENSMUSG00000062906
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Hist_deacetyl
|
13 |
251 |
6.1e-66 |
PFAM |
|
low complexity region
|
270 |
282 |
N/A |
INTRINSIC |
|
low complexity region
|
398 |
409 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000109353
AA Change: R128G
PolyPhen 2
Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000104977
Gene: ENSMUSG00000051786
AA Change: R128G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Spc97_Spc98
|
355 |
1675 |
2.8e-94 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128908
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129398
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134111
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153195
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143465
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138245
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231098
|
| Meta Mutation Damage Score |
0.2140 |
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.7%
- 10x: 95.1%
- 20x: 89.5%
|
| Validation Efficiency |
100% (82/82) |
| 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: 81 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700009N14Rik |
A |
T |
4: 39,450,989 (GRCm39) |
D65V |
probably damaging |
Het |
| 4933407L21Rik |
A |
T |
1: 85,859,007 (GRCm39) |
|
probably benign |
Het |
| Abcc12 |
C |
T |
8: 87,284,381 (GRCm39) |
|
probably benign |
Het |
| Adamts12 |
A |
G |
15: 11,311,646 (GRCm39) |
E1301G |
probably damaging |
Het |
| Adh4 |
A |
T |
3: 138,129,863 (GRCm39) |
N230Y |
probably damaging |
Het |
| Anapc15-ps |
T |
A |
10: 95,508,954 (GRCm39) |
M109L |
probably benign |
Het |
| Angpt2 |
T |
C |
8: 18,742,141 (GRCm39) |
I472V |
possibly damaging |
Het |
| Arhgef26 |
C |
A |
3: 62,247,820 (GRCm39) |
D301E |
probably benign |
Het |
| Armc10 |
G |
A |
5: 21,852,295 (GRCm39) |
|
probably benign |
Het |
| Atm |
T |
C |
9: 53,365,773 (GRCm39) |
|
probably null |
Het |
| Atp5f1b |
T |
C |
10: 127,921,908 (GRCm39) |
V265A |
probably benign |
Het |
| Atp8b1 |
G |
T |
18: 64,678,315 (GRCm39) |
C860* |
probably null |
Het |
| Atrnl1 |
T |
G |
19: 57,741,720 (GRCm39) |
S1160A |
probably benign |
Het |
| Bmal1 |
A |
T |
7: 112,890,743 (GRCm39) |
I179F |
probably damaging |
Het |
| Cep55 |
A |
G |
19: 38,048,659 (GRCm39) |
E105G |
possibly damaging |
Het |
| Cfap54 |
C |
A |
10: 92,721,226 (GRCm39) |
D2502Y |
unknown |
Het |
| Cilp2 |
A |
G |
8: 70,335,643 (GRCm39) |
S452P |
probably benign |
Het |
| Clptm1l |
A |
G |
13: 73,759,786 (GRCm39) |
D282G |
possibly damaging |
Het |
| Csrp1 |
C |
A |
1: 135,673,024 (GRCm39) |
T47N |
probably damaging |
Het |
| Cyp2c40 |
T |
A |
19: 39,766,432 (GRCm39) |
I388F |
probably damaging |
Het |
| Dars1 |
C |
T |
1: 128,291,996 (GRCm39) |
R494H |
probably damaging |
Het |
| Dna2 |
T |
C |
10: 62,792,753 (GRCm39) |
V256A |
probably damaging |
Het |
| Dock7 |
T |
C |
4: 98,873,051 (GRCm39) |
T1132A |
probably benign |
Het |
| Dpcd |
T |
G |
19: 45,565,445 (GRCm39) |
F140V |
probably damaging |
Het |
| Elk3 |
A |
T |
10: 93,101,067 (GRCm39) |
M228K |
probably benign |
Het |
| Erich6 |
A |
G |
3: 58,543,525 (GRCm39) |
F182L |
probably damaging |
Het |
| Fhad1 |
A |
G |
4: 141,712,904 (GRCm39) |
|
probably benign |
Het |
| Fryl |
A |
T |
5: 73,198,947 (GRCm39) |
|
probably benign |
Het |
| Fzd9 |
A |
T |
5: 135,278,260 (GRCm39) |
C542S |
probably damaging |
Het |
| Gba1 |
A |
G |
3: 89,115,671 (GRCm39) |
T460A |
probably benign |
Het |
| Gli2 |
C |
T |
1: 118,769,792 (GRCm39) |
A587T |
probably benign |
Het |
| Gm11011 |
C |
T |
2: 169,424,614 (GRCm39) |
|
probably benign |
Het |
| Gmppb |
A |
G |
9: 107,927,033 (GRCm39) |
E68G |
probably benign |
Het |
| Gpld1 |
A |
G |
13: 25,146,818 (GRCm39) |
N260S |
possibly damaging |
Het |
| Hipk3 |
G |
A |
2: 104,263,552 (GRCm39) |
S900L |
probably damaging |
Het |
| Idi2l |
T |
G |
13: 8,990,877 (GRCm39) |
|
probably benign |
Het |
| Ints6l |
A |
T |
X: 55,526,715 (GRCm39) |
M215L |
possibly damaging |
Het |
| Irx6 |
T |
A |
8: 93,403,659 (GRCm39) |
L128Q |
probably damaging |
Het |
| Itga10 |
T |
C |
3: 96,558,780 (GRCm39) |
S373P |
probably damaging |
Het |
| Jak1 |
T |
C |
4: 101,011,732 (GRCm39) |
|
probably null |
Het |
| Jak2 |
C |
T |
19: 29,289,157 (GRCm39) |
T1103I |
probably benign |
Het |
| Katnal1 |
A |
T |
5: 148,815,734 (GRCm39) |
V401D |
possibly damaging |
Het |
| Krbox5 |
A |
G |
13: 67,991,232 (GRCm39) |
|
probably benign |
Het |
| Lrp2 |
T |
A |
2: 69,313,326 (GRCm39) |
|
probably benign |
Het |
| Map3k13 |
A |
G |
16: 21,710,738 (GRCm39) |
H7R |
probably benign |
Het |
| Mrgprx3-ps |
A |
G |
7: 46,959,766 (GRCm39) |
V75A |
probably benign |
Het |
| Nol6 |
C |
T |
4: 41,123,584 (GRCm39) |
A55T |
probably benign |
Het |
| Opa1 |
G |
A |
16: 29,440,349 (GRCm39) |
R818Q |
probably damaging |
Het |
| Opn4 |
T |
C |
14: 34,319,081 (GRCm39) |
Y168C |
possibly damaging |
Het |
| Or8b35 |
A |
G |
9: 37,904,141 (GRCm39) |
I118V |
probably benign |
Het |
| Phf21a |
T |
C |
2: 92,161,122 (GRCm39) |
V330A |
possibly damaging |
Het |
| Phykpl |
A |
G |
11: 51,484,423 (GRCm39) |
|
probably benign |
Het |
| Plcb1 |
T |
G |
2: 134,655,534 (GRCm39) |
V38G |
probably benign |
Het |
| Plxna4 |
T |
A |
6: 32,214,703 (GRCm39) |
T593S |
probably benign |
Het |
| Poll |
A |
T |
19: 45,544,404 (GRCm39) |
I339N |
probably damaging |
Het |
| Rev3l |
A |
G |
10: 39,700,890 (GRCm39) |
I1796V |
probably benign |
Het |
| Rnf103 |
G |
A |
6: 71,486,686 (GRCm39) |
R439H |
probably damaging |
Het |
| Rrn3 |
G |
A |
16: 13,617,746 (GRCm39) |
|
probably benign |
Het |
| Sec14l4 |
G |
A |
11: 3,991,726 (GRCm39) |
|
probably benign |
Het |
| Sec23a |
A |
C |
12: 59,053,985 (GRCm39) |
Y4* |
probably null |
Het |
| Senp6 |
T |
C |
9: 80,040,265 (GRCm39) |
|
probably null |
Het |
| Serpinb6b |
A |
T |
13: 33,162,220 (GRCm39) |
N221Y |
probably benign |
Het |
| Slc6a2 |
A |
G |
8: 93,687,988 (GRCm39) |
E38G |
possibly damaging |
Het |
| Smap1 |
A |
T |
1: 23,888,423 (GRCm39) |
L196I |
probably damaging |
Het |
| Sorbs2 |
C |
T |
8: 46,248,167 (GRCm39) |
Q473* |
probably null |
Het |
| Sphkap |
C |
A |
1: 83,254,690 (GRCm39) |
V1020F |
probably damaging |
Het |
| Srfbp1 |
T |
C |
18: 52,621,614 (GRCm39) |
V225A |
probably benign |
Het |
| Srprb |
G |
A |
9: 103,079,204 (GRCm39) |
P728S |
possibly damaging |
Het |
| Tarm1 |
T |
C |
7: 3,545,187 (GRCm39) |
|
probably benign |
Het |
| Tcp1 |
T |
A |
17: 13,139,306 (GRCm39) |
I162N |
probably benign |
Het |
| Tmem237 |
C |
A |
1: 59,146,676 (GRCm39) |
A292S |
probably damaging |
Het |
| Tnfrsf21 |
C |
T |
17: 43,349,104 (GRCm39) |
H239Y |
probably benign |
Het |
| Tnpo1 |
A |
G |
13: 98,983,011 (GRCm39) |
F884L |
probably damaging |
Het |
| Trim7 |
A |
G |
11: 48,740,328 (GRCm39) |
T142A |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,616,024 (GRCm39) |
I14894F |
probably damaging |
Het |
| Ube2d2b |
A |
G |
5: 107,978,774 (GRCm39) |
T142A |
possibly damaging |
Het |
| Unc13c |
G |
T |
9: 73,388,400 (GRCm39) |
L2129I |
probably benign |
Het |
| Ushbp1 |
T |
C |
8: 71,843,697 (GRCm39) |
D247G |
probably damaging |
Het |
| Usp43 |
G |
A |
11: 67,770,966 (GRCm39) |
A556V |
probably damaging |
Het |
| Zfp438 |
T |
A |
18: 5,213,638 (GRCm39) |
H440L |
probably benign |
Het |
| Zfp518b |
C |
T |
5: 38,830,113 (GRCm39) |
E631K |
possibly 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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TAGGTCCAGTCGCACATCCATGTC -3'
(R):5'- AAACAAGGTCCTCATGCTGTCCTTC -3'
Sequencing Primer
(F):5'- ACATCCATGTCATAGGTGCG -3'
(R):5'- CTCATGCTGTCCTTCGATTTG -3'
|
| Posted On |
2013-04-16 |
Incidental Mutation