Incidental Mutation 'R6111:Tubgcp6'
ID |
484869 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tubgcp6
|
Ensembl Gene |
ENSMUSG00000051786 |
Gene Name |
tubulin, gamma complex component 6 |
Synonyms |
|
MMRRC Submission |
044260-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.963)
|
Stock # |
R6111 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
88983300-89007411 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 88985123 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 1655
(D1655G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000104977
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041656]
[ENSMUST00000082439]
[ENSMUST00000109353]
[ENSMUST00000130700]
[ENSMUST00000166480]
|
AlphaFold |
G5E8P0 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000041656
AA Change: D1647G
PolyPhen 2
Score 0.830 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000040132 Gene: ENSMUSG00000051786 AA Change: D1647G
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 |
possibly damaging
Transcript: ENSMUST00000109353
AA Change: D1655G
PolyPhen 2
Score 0.830 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000104977 Gene: ENSMUSG00000051786 AA Change: D1655G
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 |
noncoding transcript
Transcript: ENSMUST00000164717
|
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 |
noncoding transcript
Transcript: ENSMUST00000169208
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000168256
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000166994
|
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
|
Meta Mutation Damage Score |
0.4061 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.2%
|
Validation Efficiency |
98% (57/58) |
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: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2210408I21Rik |
A |
G |
13: 77,476,021 (GRCm39) |
E1110G |
possibly damaging |
Het |
Abcd4 |
G |
A |
12: 84,661,888 (GRCm39) |
T79I |
probably damaging |
Het |
Acd |
A |
G |
8: 106,424,919 (GRCm39) |
M407T |
probably benign |
Het |
Adcy2 |
T |
A |
13: 68,877,360 (GRCm39) |
H460L |
probably damaging |
Het |
Atad2 |
G |
A |
15: 57,971,487 (GRCm39) |
H752Y |
probably benign |
Het |
Bmal2 |
T |
C |
6: 146,722,097 (GRCm39) |
F223L |
probably benign |
Het |
Camsap2 |
A |
G |
1: 136,209,036 (GRCm39) |
S819P |
probably benign |
Het |
Col24a1 |
C |
A |
3: 145,019,815 (GRCm39) |
T62K |
probably damaging |
Het |
Cpne6 |
G |
A |
14: 55,752,091 (GRCm39) |
V283M |
probably benign |
Het |
D630003M21Rik |
A |
G |
2: 158,055,368 (GRCm39) |
S590P |
probably damaging |
Het |
Daam1 |
T |
A |
12: 71,989,038 (GRCm39) |
M146K |
unknown |
Het |
Dclk2 |
A |
G |
3: 86,712,968 (GRCm39) |
Y495H |
probably benign |
Het |
Ddx4 |
A |
T |
13: 112,757,766 (GRCm39) |
C330* |
probably null |
Het |
Dlec1 |
T |
C |
9: 118,931,692 (GRCm39) |
L37P |
possibly damaging |
Het |
Dock2 |
G |
A |
11: 34,599,614 (GRCm39) |
P322S |
probably damaging |
Het |
Espl1 |
A |
G |
15: 102,208,323 (GRCm39) |
E443G |
probably damaging |
Het |
Eya4 |
T |
A |
10: 23,015,953 (GRCm39) |
D338V |
possibly damaging |
Het |
Fcmr |
A |
G |
1: 130,805,566 (GRCm39) |
I267V |
probably damaging |
Het |
Gfra3 |
T |
A |
18: 34,823,927 (GRCm39) |
H349L |
probably damaging |
Het |
Gm25747 |
A |
G |
12: 113,392,703 (GRCm39) |
|
probably benign |
Het |
Gria4 |
G |
A |
9: 4,502,430 (GRCm39) |
R368C |
probably damaging |
Het |
H2-Q5 |
A |
T |
17: 35,613,885 (GRCm39) |
I145F |
possibly damaging |
Het |
Hace1 |
A |
T |
10: 45,465,606 (GRCm39) |
K54I |
possibly damaging |
Het |
Ift122 |
T |
A |
6: 115,852,247 (GRCm39) |
I79N |
probably damaging |
Het |
Ino80b |
A |
G |
6: 83,101,347 (GRCm39) |
V121A |
probably damaging |
Het |
Kcnq1 |
A |
G |
7: 142,661,474 (GRCm39) |
T63A |
probably benign |
Het |
Map4k4 |
C |
A |
1: 40,050,822 (GRCm39) |
Q762K |
probably benign |
Het |
Mios |
G |
A |
6: 8,214,836 (GRCm39) |
A11T |
probably benign |
Het |
Nfatc1 |
A |
G |
18: 80,741,125 (GRCm39) |
S278P |
probably damaging |
Het |
Notch2 |
T |
C |
3: 98,053,609 (GRCm39) |
S2091P |
probably benign |
Het |
Nudt19 |
T |
A |
7: 35,254,952 (GRCm39) |
D93V |
probably benign |
Het |
Or8b12b |
T |
C |
9: 37,684,228 (GRCm39) |
I91T |
probably damaging |
Het |
Osbpl2 |
A |
G |
2: 179,791,994 (GRCm39) |
T233A |
probably benign |
Het |
P3h1 |
C |
T |
4: 119,098,329 (GRCm39) |
R369* |
probably null |
Het |
Pcdhb3 |
A |
T |
18: 37,435,242 (GRCm39) |
I403L |
probably benign |
Het |
Pigo |
T |
C |
4: 43,019,724 (GRCm39) |
D935G |
probably benign |
Het |
Plpp1 |
A |
G |
13: 113,003,451 (GRCm39) |
H224R |
probably damaging |
Het |
Rai1 |
T |
A |
11: 60,078,732 (GRCm39) |
M932K |
probably damaging |
Het |
Rexo2 |
A |
T |
9: 48,384,412 (GRCm39) |
F122L |
probably damaging |
Het |
Rsf1 |
GCG |
GCGACGGCGACG |
7: 97,229,114 (GRCm39) |
|
probably benign |
Het |
Sdc3 |
A |
G |
4: 130,546,153 (GRCm39) |
T77A |
unknown |
Het |
Skint5 |
T |
C |
4: 113,562,845 (GRCm39) |
T786A |
unknown |
Het |
Smok3c |
C |
A |
5: 138,063,365 (GRCm39) |
P284Q |
probably damaging |
Het |
Spg11 |
A |
G |
2: 121,923,963 (GRCm39) |
V786A |
probably damaging |
Het |
Tmem273 |
T |
C |
14: 32,528,755 (GRCm39) |
I40T |
possibly damaging |
Het |
Tnfrsf10b |
T |
A |
14: 70,020,007 (GRCm39) |
C380S |
possibly damaging |
Het |
Tsen54 |
T |
C |
11: 115,710,956 (GRCm39) |
V176A |
possibly damaging |
Het |
Ttll4 |
A |
T |
1: 74,736,698 (GRCm39) |
K1141M |
possibly damaging |
Het |
Ttpa |
A |
T |
4: 20,014,772 (GRCm39) |
I116F |
probably damaging |
Het |
Usp38 |
A |
G |
8: 81,740,551 (GRCm39) |
V172A |
probably damaging |
Het |
Vmn2r73 |
A |
G |
7: 85,520,997 (GRCm39) |
S324P |
probably benign |
Het |
Wdr72 |
T |
C |
9: 74,117,607 (GRCm39) |
M773T |
probably benign |
Het |
Xirp2 |
T |
A |
2: 67,342,161 (GRCm39) |
H1467Q |
possibly damaging |
Het |
Zdhhc8 |
G |
T |
16: 18,042,762 (GRCm39) |
S479R |
probably damaging |
Het |
Zfp423 |
A |
G |
8: 88,509,315 (GRCm39) |
V322A |
probably damaging |
Het |
Zfp87 |
T |
G |
13: 74,520,504 (GRCm39) |
E191D |
probably benign |
Het |
Zfp933 |
T |
C |
4: 147,913,217 (GRCm39) |
T14A |
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 |
|
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'- TGAGAGATGAGCTGGCTTCG -3'
(R):5'- AGCGCGTTGTTCTTTCCCAG -3'
Sequencing Primer
(F):5'- TTCGGAACTTGAGCACCAG -3'
(R):5'- TTCCCAGCCCTCGTGAG -3'
|
Posted On |
2017-08-16 |