Incidental Mutation 'R2005:Tubgcp6'
| ID |
225439 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tubgcp6
|
| Ensembl Gene |
ENSMUSG00000051786 |
| Gene Name |
tubulin, gamma complex component 6 |
| Synonyms |
|
| MMRRC Submission |
040014-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.963)
|
| Stock # |
R2005 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
88983300-89007411 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 88988369 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 860
(T860I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000040132
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041656]
[ENSMUST00000082439]
[ENSMUST00000109353]
[ENSMUST00000166480]
|
| AlphaFold |
G5E8P0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000041656
AA Change: T860I
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000040132
Gene: ENSMUSG00000051786
AA Change: T860I
| 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 benign
Transcript: ENSMUST00000109353
AA Change: T868I
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000104977
Gene: ENSMUSG00000051786
AA Change: T868I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Spc97_Spc98
|
355 |
1675 |
2.8e-94 |
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: ENSMUST00000166994
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000169208
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000168256
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170877
|
| 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 |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.0%
|
| 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: 78 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb5 |
G |
A |
12: 118,841,562 (GRCm39) |
A961V |
probably benign |
Het |
| Adcy10 |
A |
G |
1: 165,352,591 (GRCm39) |
Y475C |
probably benign |
Het |
| Adgrb3 |
T |
C |
1: 25,150,799 (GRCm39) |
M1145V |
probably benign |
Het |
| Akr1c21 |
A |
G |
13: 4,624,214 (GRCm39) |
T23A |
probably damaging |
Het |
| Ankrd33b |
A |
T |
15: 31,297,814 (GRCm39) |
S314R |
probably damaging |
Het |
| Apc |
T |
C |
18: 34,443,962 (GRCm39) |
|
probably null |
Het |
| Atg9a |
T |
A |
1: 75,162,635 (GRCm39) |
Q460L |
probably benign |
Het |
| Birc2 |
C |
T |
9: 7,860,342 (GRCm39) |
C292Y |
probably damaging |
Het |
| Capn5 |
T |
C |
7: 97,778,570 (GRCm39) |
I350V |
probably benign |
Het |
| Cc2d2a |
G |
A |
5: 43,883,715 (GRCm39) |
|
probably null |
Het |
| Cdh22 |
T |
A |
2: 165,022,843 (GRCm39) |
E76V |
probably damaging |
Het |
| Cdh8 |
T |
C |
8: 99,760,103 (GRCm39) |
|
probably null |
Het |
| Cdkn1b |
ATTCTTCTTC |
ATTCTTCTTCTTC |
6: 134,898,919 (GRCm39) |
|
probably benign |
Het |
| Cfap54 |
T |
A |
10: 92,720,630 (GRCm39) |
D2608V |
unknown |
Het |
| Crebrf |
T |
C |
17: 26,961,857 (GRCm39) |
V318A |
possibly damaging |
Het |
| Cwf19l2 |
A |
T |
9: 3,430,720 (GRCm39) |
N351Y |
possibly damaging |
Het |
| Cyp2c67 |
A |
T |
19: 39,631,789 (GRCm39) |
M136K |
probably damaging |
Het |
| Ddx10 |
A |
G |
9: 53,151,775 (GRCm39) |
|
probably null |
Het |
| Ddx47 |
A |
G |
6: 134,995,084 (GRCm39) |
N92S |
probably benign |
Het |
| Ddx50 |
T |
A |
10: 62,476,243 (GRCm39) |
H306L |
probably benign |
Het |
| Dnajc27 |
A |
G |
12: 4,147,317 (GRCm39) |
T167A |
possibly damaging |
Het |
| Dscam |
T |
G |
16: 96,840,120 (GRCm39) |
K162N |
probably benign |
Het |
| Eif4h |
G |
A |
5: 134,656,531 (GRCm39) |
T53I |
probably benign |
Het |
| Elmo2 |
T |
C |
2: 165,140,199 (GRCm39) |
N332S |
probably benign |
Het |
| Ergic3 |
A |
G |
2: 155,853,028 (GRCm39) |
N157S |
possibly damaging |
Het |
| F2rl1 |
G |
T |
13: 95,649,782 (GRCm39) |
R367S |
probably damaging |
Het |
| Fbxo36 |
G |
A |
1: 84,877,790 (GRCm39) |
A151T |
probably benign |
Het |
| Foxf2 |
G |
T |
13: 31,810,124 (GRCm39) |
R21L |
unknown |
Het |
| Gmip |
T |
A |
8: 70,266,693 (GRCm39) |
H269Q |
probably benign |
Het |
| Gng4 |
T |
A |
13: 13,980,751 (GRCm39) |
V32E |
probably benign |
Het |
| Grm3 |
T |
C |
5: 9,639,793 (GRCm39) |
Y84C |
possibly damaging |
Het |
| Helz2 |
C |
T |
2: 180,873,122 (GRCm39) |
R2396H |
probably benign |
Het |
| Icosl |
A |
T |
10: 77,907,787 (GRCm39) |
M116L |
possibly damaging |
Het |
| Itgb3bp |
A |
C |
4: 99,702,295 (GRCm39) |
N16K |
probably benign |
Het |
| Kcnt2 |
A |
G |
1: 140,480,756 (GRCm39) |
M824V |
probably damaging |
Het |
| Mki67 |
T |
A |
7: 135,300,238 (GRCm39) |
K1599* |
probably null |
Het |
| Mmp25 |
G |
A |
17: 23,859,216 (GRCm39) |
R144W |
probably damaging |
Het |
| Mmrn1 |
A |
T |
6: 60,953,068 (GRCm39) |
I450F |
possibly damaging |
Het |
| Mroh2b |
A |
T |
15: 4,946,640 (GRCm39) |
K480M |
probably damaging |
Het |
| Nbn |
T |
A |
4: 15,979,351 (GRCm39) |
D445E |
probably benign |
Het |
| Npbwr1 |
T |
A |
1: 5,986,570 (GRCm39) |
S315C |
probably damaging |
Het |
| Or10ag56 |
T |
A |
2: 87,139,792 (GRCm39) |
S240T |
probably benign |
Het |
| Or1e19 |
A |
T |
11: 73,316,065 (GRCm39) |
V248E |
probably damaging |
Het |
| Or5d38 |
A |
G |
2: 87,954,891 (GRCm39) |
L146P |
probably damaging |
Het |
| Or7g16 |
G |
A |
9: 18,726,801 (GRCm39) |
S263L |
probably benign |
Het |
| Pard3b |
A |
T |
1: 62,184,050 (GRCm39) |
E183D |
probably benign |
Het |
| Pde10a |
G |
A |
17: 9,147,923 (GRCm39) |
|
probably null |
Het |
| Pdlim2 |
C |
T |
14: 70,402,228 (GRCm39) |
R296H |
probably damaging |
Het |
| Prdm13 |
T |
C |
4: 21,685,695 (GRCm39) |
|
probably benign |
Het |
| Rc3h2 |
T |
A |
2: 37,279,765 (GRCm39) |
K461* |
probably null |
Het |
| Reep2 |
C |
T |
18: 34,978,674 (GRCm39) |
T117M |
probably damaging |
Het |
| Rhbdd1 |
A |
G |
1: 82,318,531 (GRCm39) |
N138S |
probably benign |
Het |
| Rnf19a |
A |
T |
15: 36,241,916 (GRCm39) |
F708I |
possibly damaging |
Het |
| Robo2 |
G |
A |
16: 73,730,003 (GRCm39) |
H1069Y |
possibly damaging |
Het |
| Rpl9 |
C |
T |
5: 65,546,878 (GRCm39) |
V112I |
probably benign |
Het |
| Sec16a |
A |
C |
2: 26,329,092 (GRCm39) |
S974R |
probably benign |
Het |
| Sfrp5 |
A |
G |
19: 42,187,275 (GRCm39) |
M265T |
probably benign |
Het |
| Skint7 |
T |
C |
4: 111,842,047 (GRCm39) |
I305T |
probably benign |
Het |
| Slc6a7 |
T |
C |
18: 61,134,713 (GRCm39) |
D454G |
possibly damaging |
Het |
| Slco6c1 |
A |
G |
1: 97,009,214 (GRCm39) |
I407T |
probably damaging |
Het |
| Slfn8 |
A |
T |
11: 82,894,976 (GRCm39) |
M610K |
probably damaging |
Het |
| Spidr |
A |
G |
16: 15,865,913 (GRCm39) |
S299P |
probably damaging |
Het |
| Sptbn4 |
C |
T |
7: 27,065,844 (GRCm39) |
W2034* |
probably null |
Het |
| Stard9 |
T |
A |
2: 120,495,426 (GRCm39) |
F100L |
possibly damaging |
Het |
| Stard9 |
C |
A |
2: 120,504,117 (GRCm39) |
S221R |
probably damaging |
Het |
| Stc1 |
T |
C |
14: 69,269,096 (GRCm39) |
|
probably null |
Het |
| Sun2 |
T |
C |
15: 79,610,825 (GRCm39) |
E667G |
possibly damaging |
Het |
| Tacc2 |
T |
C |
7: 130,333,280 (GRCm39) |
S511P |
probably damaging |
Het |
| Tasp1 |
T |
G |
2: 139,819,598 (GRCm39) |
K202Q |
probably damaging |
Het |
| Tdrd6 |
A |
G |
17: 43,939,546 (GRCm39) |
F501L |
probably damaging |
Het |
| Tgds |
A |
G |
14: 118,368,068 (GRCm39) |
V35A |
possibly damaging |
Het |
| Twf1 |
C |
T |
15: 94,483,328 (GRCm39) |
|
probably null |
Het |
| Vangl1 |
A |
G |
3: 102,070,782 (GRCm39) |
S385P |
probably benign |
Het |
| Vmn2r117 |
A |
G |
17: 23,696,618 (GRCm39) |
I263T |
probably damaging |
Het |
| Washc5 |
A |
G |
15: 59,213,004 (GRCm39) |
L892P |
possibly damaging |
Het |
| Wnk4 |
T |
C |
11: 101,154,716 (GRCm39) |
C302R |
probably damaging |
Het |
| Zfp395 |
A |
G |
14: 65,626,334 (GRCm39) |
E191G |
possibly damaging |
Het |
| Zkscan17 |
A |
G |
11: 59,383,042 (GRCm39) |
L302P |
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 |
|
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'- TACTCTGACTGGGTAGCCTG -3'
(R):5'- TGTCAGCCACTGTTGCTGAG -3'
Sequencing Primer
(F):5'- CTGCTGTGAGTGCCGCTG -3'
(R):5'- ACTGTTGCTGAGCTCGC -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation