Incidental Mutation 'R7275:Tubgcp6'
| ID |
565543 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tubgcp6
|
| Ensembl Gene |
ENSMUSG00000051786 |
| Gene Name |
tubulin, gamma complex component 6 |
| Synonyms |
|
| MMRRC Submission |
045358-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.963)
|
| Stock # |
R7275 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
88983300-89007411 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 88987146 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 1276
(Q1276*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104977
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041656]
[ENSMUST00000082439]
[ENSMUST00000109353]
[ENSMUST00000130700]
[ENSMUST00000166480]
|
| AlphaFold |
G5E8P0 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000041656
AA Change: Q1268*
|
| SMART Domains |
Protein: ENSMUSP00000040132
Gene: ENSMUSG00000051786
AA Change: Q1268*
| 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 null
Transcript: ENSMUST00000109353
AA Change: Q1276*
|
| SMART Domains |
Protein: ENSMUSP00000104977
Gene: ENSMUSG00000051786
AA Change: Q1276*
| 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 |
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 |
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 |
probably benign
Transcript: ENSMUST00000170877
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
98% (64/65) |
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930447C04Rik |
T |
A |
12: 72,956,795 (GRCm39) |
T132S |
possibly damaging |
Het |
| 4933412E24Rik |
A |
G |
15: 59,887,738 (GRCm39) |
V234A |
probably benign |
Het |
| Abtb3 |
T |
A |
10: 85,490,346 (GRCm39) |
L1004Q |
probably damaging |
Het |
| Acsm5 |
A |
G |
7: 119,136,511 (GRCm39) |
T361A |
possibly damaging |
Het |
| Agxt2 |
G |
A |
15: 10,358,753 (GRCm39) |
R24H |
probably benign |
Het |
| Asb16 |
G |
T |
11: 102,159,935 (GRCm39) |
W96L |
probably damaging |
Het |
| Bche |
T |
A |
3: 73,607,969 (GRCm39) |
T486S |
probably benign |
Het |
| Bpnt2 |
C |
A |
4: 4,792,962 (GRCm39) |
G48W |
probably damaging |
Het |
| Cast |
T |
C |
13: 74,875,453 (GRCm39) |
T382A |
probably benign |
Het |
| Cdcp1 |
T |
A |
9: 123,014,119 (GRCm39) |
K218N |
possibly damaging |
Het |
| Ceacam18 |
G |
A |
7: 43,291,308 (GRCm39) |
G250D |
probably damaging |
Het |
| Ciao3 |
T |
A |
17: 25,994,108 (GRCm39) |
V52E |
possibly damaging |
Het |
| Ctnnd2 |
T |
C |
15: 30,905,855 (GRCm39) |
I834T |
possibly damaging |
Het |
| Cyp11b2 |
C |
A |
15: 74,725,840 (GRCm39) |
G136W |
probably damaging |
Het |
| Dis3 |
A |
G |
14: 99,324,925 (GRCm39) |
V502A |
probably damaging |
Het |
| Dnai2 |
T |
A |
11: 114,648,054 (GRCm39) |
M610K |
unknown |
Het |
| Drosha |
G |
A |
15: 12,846,169 (GRCm39) |
V435I |
possibly damaging |
Het |
| Dsc2 |
T |
A |
18: 20,184,236 (GRCm39) |
R51* |
probably null |
Het |
| Ergic2 |
A |
T |
6: 148,096,757 (GRCm39) |
C170S |
probably damaging |
Het |
| Exoc7 |
A |
T |
11: 116,195,688 (GRCm39) |
|
probably null |
Het |
| Fbxw25 |
G |
T |
9: 109,483,660 (GRCm39) |
A184E |
|
Het |
| Gm4846 |
T |
A |
1: 166,314,648 (GRCm39) |
T332S |
probably benign |
Het |
| Greb1l |
T |
A |
18: 10,544,561 (GRCm39) |
M1385K |
probably benign |
Het |
| Grik1 |
T |
C |
16: 87,709,708 (GRCm39) |
N871S |
probably benign |
Het |
| Il11ra1 |
T |
C |
4: 41,765,109 (GRCm39) |
L145P |
probably damaging |
Het |
| Inpp5e |
A |
G |
2: 26,298,104 (GRCm39) |
S166P |
probably benign |
Het |
| Kdm4b |
T |
A |
17: 56,703,333 (GRCm39) |
L676H |
probably damaging |
Het |
| Lrp2 |
T |
A |
2: 69,289,875 (GRCm39) |
K3655* |
probably null |
Het |
| Lrrc74a |
A |
G |
12: 86,787,753 (GRCm39) |
N128S |
probably damaging |
Het |
| Map3k14 |
T |
C |
11: 103,117,848 (GRCm39) |
E648G |
probably damaging |
Het |
| Mbtps1 |
A |
T |
8: 120,269,489 (GRCm39) |
D200E |
probably benign |
Het |
| Mttp |
T |
C |
3: 137,829,546 (GRCm39) |
D114G |
probably benign |
Het |
| Mup13 |
G |
A |
4: 61,182,752 (GRCm39) |
T101M |
probably benign |
Het |
| Neb |
T |
A |
2: 52,096,956 (GRCm39) |
T4953S |
probably benign |
Het |
| Nfasc |
A |
C |
1: 132,562,001 (GRCm39) |
L147R |
probably damaging |
Het |
| Obox6 |
T |
C |
7: 15,567,805 (GRCm39) |
E214G |
probably benign |
Het |
| Opn3 |
T |
C |
1: 175,493,039 (GRCm39) |
N175S |
probably damaging |
Het |
| Or1j12 |
A |
T |
2: 36,342,851 (GRCm39) |
M85L |
probably benign |
Het |
| Or8g22 |
T |
A |
9: 38,958,815 (GRCm39) |
|
probably benign |
Het |
| Or8k22 |
C |
A |
2: 86,163,136 (GRCm39) |
C188F |
possibly damaging |
Het |
| Osbpl3 |
G |
T |
6: 50,323,410 (GRCm39) |
D224E |
probably benign |
Het |
| Osr2 |
A |
G |
15: 35,301,032 (GRCm39) |
D196G |
probably damaging |
Het |
| Pde8b |
T |
A |
13: 95,179,442 (GRCm39) |
N405Y |
probably damaging |
Het |
| Pirb |
A |
G |
7: 3,719,177 (GRCm39) |
S571P |
probably benign |
Het |
| Psmc3 |
T |
A |
2: 90,886,275 (GRCm39) |
I163N |
probably damaging |
Het |
| Rapgef4 |
A |
G |
2: 72,038,445 (GRCm39) |
D532G |
probably damaging |
Het |
| Retreg1 |
A |
G |
15: 25,971,684 (GRCm39) |
D208G |
probably benign |
Het |
| Rgsl1 |
T |
G |
1: 153,679,876 (GRCm39) |
|
probably null |
Het |
| Ripk4 |
T |
C |
16: 97,545,157 (GRCm39) |
T497A |
probably benign |
Het |
| Slc30a2 |
T |
A |
4: 134,076,581 (GRCm39) |
|
probably null |
Het |
| Slc6a19 |
T |
C |
13: 73,834,197 (GRCm39) |
D335G |
probably benign |
Het |
| Slco4c1 |
G |
A |
1: 96,799,497 (GRCm39) |
T113M |
probably benign |
Het |
| Speer1c |
T |
C |
5: 10,295,192 (GRCm39) |
N71D |
|
Het |
| Stxbp6 |
A |
G |
12: 44,948,786 (GRCm39) |
F108L |
probably benign |
Het |
| Sulf1 |
T |
A |
1: 12,921,189 (GRCm39) |
|
probably null |
Het |
| Syt16 |
C |
T |
12: 74,313,483 (GRCm39) |
R470C |
probably damaging |
Het |
| Tbc1d19 |
T |
A |
5: 54,029,618 (GRCm39) |
D326E |
probably damaging |
Het |
| Trappc14 |
T |
C |
5: 138,261,839 (GRCm39) |
S86G |
probably benign |
Het |
| Trgv3 |
A |
G |
13: 19,427,188 (GRCm39) |
T24A |
probably benign |
Het |
| Trpm3 |
T |
A |
19: 22,956,048 (GRCm39) |
M1170K |
possibly damaging |
Het |
| Tyrp1 |
A |
G |
4: 80,755,821 (GRCm39) |
K197E |
possibly damaging |
Het |
| Ube3d |
T |
C |
9: 86,322,679 (GRCm39) |
D165G |
probably damaging |
Het |
| Zfp212 |
A |
G |
6: 47,897,678 (GRCm39) |
T7A |
probably benign |
Het |
| Zhx1 |
T |
C |
15: 57,917,758 (GRCm39) |
T163A |
probably benign |
Het |
| Zp2 |
A |
T |
7: 119,734,576 (GRCm39) |
|
probably null |
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 |
|
|
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'- AGCAGCAACTTGATCCAGGC -3'
(R):5'- CGGATCTTGATCTTCAGCAAC -3'
Sequencing Primer
(F):5'- GCAACTTGATCCAGGCTGACAG -3'
(R):5'- ATCTTCAGCAACGTGGATGTGC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation