Incidental Mutation 'R7274:Tubgcp6'
| ID |
565483 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tubgcp6
|
| Ensembl Gene |
ENSMUSG00000051786 |
| Gene Name |
tubulin, gamma complex component 6 |
| Synonyms |
|
| MMRRC Submission |
067851-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.963)
|
| Stock # |
R7274 (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 88987173 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 1267
(Q1267*)
|
| 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: Q1259*
|
| SMART Domains |
Protein: ENSMUSP00000040132
Gene: ENSMUSG00000051786
AA Change: Q1259*
| 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: Q1267*
|
| SMART Domains |
Protein: ENSMUSP00000104977
Gene: ENSMUSG00000051786
AA Change: Q1267*
| 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: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (61/61) |
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1190005I06Rik |
T |
C |
8: 121,338,005 (GRCm39) |
S69G |
possibly damaging |
Het |
| Alg12 |
G |
A |
15: 88,690,910 (GRCm39) |
S337F |
probably damaging |
Het |
| Bcl11a |
T |
C |
11: 24,113,985 (GRCm39) |
S443P |
probably damaging |
Het |
| C1qtnf4 |
T |
C |
2: 90,719,885 (GRCm39) |
Y53H |
probably damaging |
Het |
| Cacna1d |
T |
A |
14: 29,864,600 (GRCm39) |
E454V |
probably damaging |
Het |
| Cacna1h |
A |
G |
17: 25,597,811 (GRCm39) |
F1761S |
probably damaging |
Het |
| Cacna1i |
A |
T |
15: 80,261,023 (GRCm39) |
I1344F |
possibly damaging |
Het |
| Cat |
T |
C |
2: 103,307,235 (GRCm39) |
N33D |
probably benign |
Het |
| Cdh17 |
C |
T |
4: 11,783,174 (GRCm39) |
Q172* |
probably null |
Het |
| Chrna2 |
A |
G |
14: 66,386,675 (GRCm39) |
I274V |
probably benign |
Het |
| Cog2 |
T |
G |
8: 125,262,258 (GRCm39) |
S299A |
possibly damaging |
Het |
| Cpa6 |
C |
A |
1: 10,479,524 (GRCm39) |
M236I |
probably damaging |
Het |
| Crym |
T |
A |
7: 119,789,742 (GRCm39) |
Q242L |
probably benign |
Het |
| Ddx60 |
T |
C |
8: 62,393,142 (GRCm39) |
|
probably null |
Het |
| Eif4a3l1 |
A |
G |
6: 136,306,396 (GRCm39) |
T286A |
possibly damaging |
Het |
| Epdr1 |
A |
T |
13: 19,777,458 (GRCm39) |
I180N |
possibly damaging |
Het |
| Fancd2os |
G |
A |
6: 113,574,851 (GRCm39) |
L52F |
probably benign |
Het |
| Fbxo16 |
C |
A |
14: 65,558,716 (GRCm39) |
R292S |
probably benign |
Het |
| Fn1 |
T |
C |
1: 71,667,272 (GRCm39) |
Q820R |
probably benign |
Het |
| Gm4131 |
T |
A |
14: 62,704,301 (GRCm39) |
Y140F |
possibly damaging |
Het |
| Grin2a |
T |
C |
16: 9,396,986 (GRCm39) |
R1034G |
possibly damaging |
Het |
| Hypk |
A |
G |
2: 121,284,805 (GRCm39) |
|
probably benign |
Het |
| Ighmbp2 |
A |
G |
19: 3,314,951 (GRCm39) |
V823A |
probably benign |
Het |
| Irf5 |
A |
G |
6: 29,534,039 (GRCm39) |
N95S |
probably damaging |
Het |
| Kdr |
A |
T |
5: 76,125,360 (GRCm39) |
M379K |
probably benign |
Het |
| Kif19a |
G |
T |
11: 114,656,281 (GRCm39) |
|
probably benign |
Het |
| Klhdc4 |
T |
C |
8: 122,526,397 (GRCm39) |
|
probably null |
Het |
| Lama2 |
A |
T |
10: 26,995,976 (GRCm39) |
I1717N |
probably damaging |
Het |
| Lama4 |
A |
T |
10: 38,968,295 (GRCm39) |
Q1479L |
probably benign |
Het |
| Lgr5 |
T |
A |
10: 115,288,410 (GRCm39) |
T745S |
probably damaging |
Het |
| Lifr |
T |
A |
15: 7,196,540 (GRCm39) |
|
probably null |
Het |
| Llgl1 |
C |
T |
11: 60,596,812 (GRCm39) |
R138C |
possibly damaging |
Het |
| Mccc1 |
A |
T |
3: 36,044,005 (GRCm39) |
V246E |
probably damaging |
Het |
| Mdn1 |
T |
A |
4: 32,725,944 (GRCm39) |
L2621H |
probably benign |
Het |
| Mecr |
C |
A |
4: 131,581,089 (GRCm39) |
A80D |
probably damaging |
Het |
| Mia2 |
A |
G |
12: 59,154,905 (GRCm39) |
E206G |
probably damaging |
Het |
| Nubpl |
A |
G |
12: 52,179,203 (GRCm39) |
|
probably benign |
Het |
| Obscn |
C |
T |
11: 59,024,053 (GRCm39) |
R539H |
probably damaging |
Het |
| Or4n4b |
T |
A |
14: 50,535,879 (GRCm39) |
T296S |
probably benign |
Het |
| Or8h10 |
A |
G |
2: 86,808,867 (GRCm39) |
V91A |
probably benign |
Het |
| Pde5a |
A |
T |
3: 122,648,895 (GRCm39) |
K838* |
probably null |
Het |
| Pgm3 |
A |
G |
9: 86,444,650 (GRCm39) |
L295P |
probably damaging |
Het |
| Pkp2 |
T |
C |
16: 16,064,793 (GRCm39) |
L439P |
possibly damaging |
Het |
| Polr1a |
T |
A |
6: 71,897,500 (GRCm39) |
C205* |
probably null |
Het |
| Rab3gap1 |
T |
A |
1: 127,855,249 (GRCm39) |
I429K |
probably benign |
Het |
| Rassf8 |
T |
C |
6: 145,761,295 (GRCm39) |
V207A |
probably benign |
Het |
| Sacs |
T |
A |
14: 61,451,530 (GRCm39) |
D4525E |
possibly damaging |
Het |
| Sec24a |
A |
T |
11: 51,598,082 (GRCm39) |
L864Q |
probably damaging |
Het |
| Spats2l |
C |
A |
1: 57,918,672 (GRCm39) |
Y35* |
probably null |
Het |
| Sptlc2 |
A |
T |
12: 87,388,380 (GRCm39) |
D367E |
probably benign |
Het |
| Ssc4d |
T |
C |
5: 135,996,810 (GRCm39) |
D97G |
possibly damaging |
Het |
| Tjp1 |
A |
G |
7: 65,177,400 (GRCm39) |
Y3H |
possibly damaging |
Het |
| Tkt |
T |
A |
14: 30,291,102 (GRCm39) |
|
probably null |
Het |
| Trim60 |
T |
A |
8: 65,453,133 (GRCm39) |
N372I |
possibly damaging |
Het |
| Trpm2 |
T |
C |
10: 77,759,389 (GRCm39) |
N1132D |
probably benign |
Het |
| Tsc22d1 |
T |
C |
14: 76,654,154 (GRCm39) |
I211T |
probably damaging |
Het |
| Ttc39b |
T |
C |
4: 83,180,088 (GRCm39) |
K132E |
possibly damaging |
Het |
| Ttn |
C |
T |
2: 76,553,932 (GRCm39) |
V30924I |
probably damaging |
Het |
| Zfp30 |
C |
A |
7: 29,492,043 (GRCm39) |
T180N |
probably benign |
Het |
| Zp2 |
A |
G |
7: 119,731,614 (GRCm39) |
*714R |
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 |
|
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'- TTTCCAGAATGCCACAGTCCC -3'
(R):5'- AATGTCCACGGGCATGTGTC -3'
Sequencing Primer
(F):5'- TGCCACAGTCCCACCCTG -3'
(R):5'- CATGTGTCAGATGCCAGTATTAG -3'
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| Posted On |
2019-06-26 |
Incidental Mutation