Incidental Mutation 'R8191:Tubgcp6'
| ID |
635179 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tubgcp6
|
| Ensembl Gene |
ENSMUSG00000051786 |
| Gene Name |
tubulin, gamma complex component 6 |
| Synonyms |
|
| MMRRC Submission |
067614-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.963)
|
| Stock # |
R8191 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
88983300-89007411 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 89004843 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Serine
at position 259
(G259S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104977
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041656]
[ENSMUST00000082197]
[ENSMUST00000109347]
[ENSMUST00000109353]
|
| AlphaFold |
G5E8P0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000041656
AA Change: G259S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000040132
Gene: ENSMUSG00000051786
AA Change: G259S
| 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 |
probably damaging
Transcript: ENSMUST00000109353
AA Change: G259S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000104977
Gene: ENSMUSG00000051786
AA Change: G259S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Spc97_Spc98
|
355 |
1675 |
2.8e-94 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
| 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: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700037C18Rik |
G |
A |
16: 3,724,918 (GRCm39) |
R49W |
probably damaging |
Het |
| Adamts4 |
T |
C |
1: 171,080,292 (GRCm39) |
S282P |
|
Het |
| Aqp4 |
A |
G |
18: 15,531,222 (GRCm39) |
S180P |
probably benign |
Het |
| Armc2 |
T |
G |
10: 41,839,747 (GRCm39) |
E406A |
probably benign |
Het |
| Atp13a3 |
A |
T |
16: 30,168,598 (GRCm39) |
Y464N |
probably damaging |
Het |
| B3gnt3 |
C |
A |
8: 72,146,122 (GRCm39) |
V136L |
probably benign |
Het |
| Cacna1s |
C |
T |
1: 136,035,893 (GRCm39) |
H1378Y |
probably damaging |
Het |
| Ccnk |
A |
T |
12: 108,159,933 (GRCm39) |
E138D |
probably benign |
Het |
| Cenpe |
A |
G |
3: 134,957,375 (GRCm39) |
K1878E |
probably benign |
Het |
| Cep57l1 |
T |
A |
10: 41,616,955 (GRCm39) |
I111L |
probably damaging |
Het |
| Cfap298 |
G |
T |
16: 90,727,889 (GRCm39) |
N100K |
probably damaging |
Het |
| Copg2 |
T |
C |
6: 30,790,665 (GRCm39) |
I509V |
probably benign |
Het |
| Cux2 |
T |
A |
5: 122,012,217 (GRCm39) |
D406V |
probably benign |
Het |
| Cyp2a12 |
G |
T |
7: 26,730,529 (GRCm39) |
A165S |
probably benign |
Het |
| Dnaaf5 |
T |
G |
5: 139,167,250 (GRCm39) |
S719A |
probably benign |
Het |
| Dnah7c |
A |
G |
1: 46,646,618 (GRCm39) |
I1220V |
possibly damaging |
Het |
| Dnai3 |
G |
T |
3: 145,800,066 (GRCm39) |
P158H |
probably damaging |
Het |
| Dnajb8 |
C |
T |
6: 88,199,940 (GRCm39) |
R159C |
possibly damaging |
Het |
| Dusp10 |
T |
A |
1: 183,769,749 (GRCm39) |
D238E |
possibly damaging |
Het |
| Dync1li1 |
C |
A |
9: 114,538,253 (GRCm39) |
D203E |
probably benign |
Het |
| Ecpas |
A |
T |
4: 58,872,587 (GRCm39) |
|
probably null |
Het |
| Eif5b |
T |
C |
1: 38,075,283 (GRCm39) |
S587P |
probably damaging |
Het |
| Ephb2 |
G |
A |
4: 136,386,256 (GRCm39) |
T832I |
probably damaging |
Het |
| Exoc1 |
T |
A |
5: 76,707,674 (GRCm39) |
|
probably null |
Het |
| Fam193a |
T |
A |
5: 34,597,917 (GRCm39) |
N571K |
probably damaging |
Het |
| Fem1a |
T |
A |
17: 56,565,356 (GRCm39) |
I483N |
probably damaging |
Het |
| Fgf20 |
C |
A |
8: 40,761,361 (GRCm39) |
|
probably benign |
Het |
| Fkbp1a |
C |
T |
2: 151,399,356 (GRCm39) |
P98S |
|
Het |
| Gpsm3 |
A |
T |
17: 34,809,451 (GRCm39) |
D19V |
probably benign |
Het |
| Ido2 |
C |
A |
8: 25,023,696 (GRCm39) |
G381W |
probably damaging |
Het |
| Ifi204 |
T |
C |
1: 173,579,226 (GRCm39) |
T540A |
possibly damaging |
Het |
| Isl1 |
A |
T |
13: 116,441,954 (GRCm39) |
M93K |
probably benign |
Het |
| Map3k10 |
T |
A |
7: 27,362,671 (GRCm39) |
S472C |
probably damaging |
Het |
| Mcrs1 |
A |
T |
15: 99,141,206 (GRCm39) |
V432E |
probably damaging |
Het |
| Metap2 |
A |
G |
10: 93,701,267 (GRCm39) |
|
probably null |
Het |
| Muc5b |
A |
G |
7: 141,421,421 (GRCm39) |
S4304G |
probably benign |
Het |
| Myef2l |
G |
T |
3: 10,153,914 (GRCm39) |
V228F |
probably damaging |
Het |
| Nell1 |
T |
C |
7: 50,098,622 (GRCm39) |
V308A |
unknown |
Het |
| Or10g1b |
A |
G |
14: 52,627,987 (GRCm39) |
V81A |
probably benign |
Het |
| Or4d5 |
A |
T |
9: 40,012,767 (GRCm39) |
H6Q |
probably benign |
Het |
| Plxna4 |
C |
A |
6: 32,493,885 (GRCm39) |
V244F |
possibly damaging |
Het |
| Pnpla6 |
T |
C |
8: 3,592,382 (GRCm39) |
S1224P |
probably benign |
Het |
| Ripk4 |
A |
G |
16: 97,564,726 (GRCm39) |
|
probably benign |
Het |
| Rnpep |
T |
C |
1: 135,200,172 (GRCm39) |
E261G |
possibly damaging |
Het |
| Robo1 |
C |
A |
16: 72,730,142 (GRCm39) |
S194R |
probably damaging |
Het |
| Rpusd1 |
C |
G |
17: 25,947,611 (GRCm39) |
Y99* |
probably null |
Het |
| Scarf1 |
T |
C |
11: 75,413,065 (GRCm39) |
M437T |
probably benign |
Het |
| Sh3tc2 |
G |
T |
18: 62,106,429 (GRCm39) |
D153Y |
probably damaging |
Het |
| Siglec1 |
T |
C |
2: 130,927,599 (GRCm39) |
Y69C |
probably damaging |
Het |
| Slc25a34 |
T |
C |
4: 141,347,895 (GRCm39) |
Y262C |
probably damaging |
Het |
| Srrm2 |
T |
A |
17: 24,039,219 (GRCm39) |
N1954K |
probably damaging |
Het |
| St6galnac2 |
T |
C |
11: 116,572,748 (GRCm39) |
Y236C |
probably damaging |
Het |
| Stac3 |
T |
A |
10: 127,344,068 (GRCm39) |
I322N |
probably damaging |
Het |
| Tcaf1 |
T |
C |
6: 42,652,190 (GRCm39) |
Q764R |
probably damaging |
Het |
| Tcf20 |
G |
A |
15: 82,737,606 (GRCm39) |
R1282* |
probably null |
Het |
| Tlr2 |
T |
A |
3: 83,743,821 (GRCm39) |
K754M |
probably damaging |
Het |
| Tlr2 |
T |
G |
3: 83,743,822 (GRCm39) |
K754Q |
probably damaging |
Het |
| Tnn |
C |
T |
1: 159,953,088 (GRCm39) |
V651M |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,701,083 (GRCm39) |
H9622R |
unknown |
Het |
| Ubr5 |
C |
A |
15: 38,006,751 (GRCm39) |
C1174F |
|
Het |
| Ugt2b35 |
T |
A |
5: 87,149,302 (GRCm39) |
S184R |
probably damaging |
Het |
| Vit |
C |
T |
17: 78,853,828 (GRCm39) |
H25Y |
probably benign |
Het |
| Vmn1r177 |
G |
A |
7: 23,565,736 (GRCm39) |
Q47* |
probably null |
Het |
| Vmn2r104 |
A |
T |
17: 20,250,465 (GRCm39) |
V602D |
possibly damaging |
Het |
| Vmn2r115 |
A |
G |
17: 23,578,530 (GRCm39) |
T668A |
probably damaging |
Het |
| Vmn2r125 |
T |
G |
4: 156,703,709 (GRCm39) |
C362W |
probably damaging |
Het |
| Vwa7 |
A |
G |
17: 35,238,712 (GRCm39) |
T267A |
probably damaging |
Het |
| Xpa |
C |
A |
4: 46,183,225 (GRCm39) |
R188L |
possibly damaging |
Het |
| Zfp143 |
C |
T |
7: 109,676,364 (GRCm39) |
T249I |
probably damaging |
Het |
| Zfp607a |
A |
G |
7: 27,578,868 (GRCm39) |
E646G |
possibly damaging |
Het |
| Zfp729a |
A |
T |
13: 67,769,838 (GRCm39) |
S130R |
probably benign |
Het |
| Zswim3 |
C |
A |
2: 164,662,128 (GRCm39) |
Q203K |
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 |
|
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 |
|
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'- AGCTTACCTGAAACAGCAGC -3'
(R):5'- AGTAGACTGCTTTGCTAGGTC -3'
Sequencing Primer
(F):5'- GCCTGCAGTTTCCAAGTAAG -3'
(R):5'- GCTAGGTCTGTCCCTCTAGG -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation