Incidental Mutation 'R7103:Tubgcp6'
ID |
551015 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tubgcp6
|
Ensembl Gene |
ENSMUSG00000051786 |
Gene Name |
tubulin, gamma complex component 6 |
Synonyms |
|
MMRRC Submission |
045195-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.963)
|
Stock # |
R7103 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
88983300-89007411 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 88985232 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 1619
(F1619L)
|
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: F1611L
PolyPhen 2
Score 0.843 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000040132 Gene: ENSMUSG00000051786 AA Change: F1611L
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 damaging
Transcript: ENSMUST00000109353
AA Change: F1619L
PolyPhen 2
Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000104977 Gene: ENSMUSG00000051786 AA Change: F1619L
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
AA Change: V290A
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000131359 Gene: ENSMUSG00000051786 AA Change: V290A
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: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
Validation Efficiency |
98% (61/62) |
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: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts2 |
A |
G |
11: 50,628,181 (GRCm39) |
T294A |
probably damaging |
Het |
Adamtsl2 |
G |
A |
2: 26,997,473 (GRCm39) |
V893I |
probably damaging |
Het |
Amph |
T |
A |
13: 19,333,908 (GRCm39) |
D656E |
probably benign |
Het |
Aoah |
T |
C |
13: 21,207,485 (GRCm39) |
F568S |
probably damaging |
Het |
Atr |
G |
A |
9: 95,747,425 (GRCm39) |
G236S |
probably damaging |
Het |
Brd3 |
T |
A |
2: 27,340,406 (GRCm39) |
Q601L |
probably damaging |
Het |
Ccar2 |
T |
C |
14: 70,379,426 (GRCm39) |
E524G |
probably damaging |
Het |
Cog2 |
T |
C |
8: 125,267,853 (GRCm39) |
|
probably null |
Het |
Csnka2ip |
C |
A |
16: 64,299,120 (GRCm39) |
V415F |
unknown |
Het |
Dmp1 |
A |
T |
5: 104,359,729 (GRCm39) |
D135V |
probably damaging |
Het |
Dtna |
T |
C |
18: 23,786,436 (GRCm39) |
|
probably null |
Het |
Endou |
A |
G |
15: 97,616,810 (GRCm39) |
S238P |
probably damaging |
Het |
Ep400 |
T |
A |
5: 110,881,651 (GRCm39) |
E779D |
unknown |
Het |
Fcgbp |
A |
G |
7: 27,784,387 (GRCm39) |
E149G |
probably benign |
Het |
G6pc1 |
C |
A |
11: 101,265,413 (GRCm39) |
|
probably null |
Het |
Gmeb1 |
T |
C |
4: 131,962,179 (GRCm39) |
H160R |
probably damaging |
Het |
Gramd1b |
T |
C |
9: 40,312,902 (GRCm39) |
Y22C |
unknown |
Het |
Hcrtr2 |
C |
T |
9: 76,161,793 (GRCm39) |
G199D |
probably benign |
Het |
Hoxb2 |
T |
C |
11: 96,244,447 (GRCm39) |
F353L |
possibly damaging |
Het |
Itpr2 |
C |
A |
6: 146,226,572 (GRCm39) |
V1391F |
probably damaging |
Het |
Jakmip2 |
T |
A |
18: 43,673,648 (GRCm39) |
|
probably null |
Het |
Kcnmb4 |
T |
C |
10: 116,309,164 (GRCm39) |
Y88C |
possibly damaging |
Het |
Kif1a |
T |
C |
1: 93,005,507 (GRCm39) |
Y89C |
probably damaging |
Het |
Kif23 |
T |
A |
9: 61,827,174 (GRCm39) |
K892N |
probably damaging |
Het |
Lama3 |
T |
A |
18: 12,664,936 (GRCm39) |
S646T |
probably benign |
Het |
Lig3 |
T |
A |
11: 82,688,138 (GRCm39) |
M709K |
probably benign |
Het |
Mindy3 |
C |
A |
2: 12,405,885 (GRCm39) |
A137S |
possibly damaging |
Het |
Mis18bp1 |
T |
C |
12: 65,196,057 (GRCm39) |
E569G |
possibly damaging |
Het |
Misp |
T |
A |
10: 79,662,999 (GRCm39) |
L472Q |
probably damaging |
Het |
Mrps5 |
A |
T |
2: 127,443,330 (GRCm39) |
T303S |
probably damaging |
Het |
Msh3 |
T |
G |
13: 92,411,308 (GRCm39) |
I630L |
probably benign |
Het |
Muc21 |
C |
A |
17: 35,932,432 (GRCm39) |
A585S |
unknown |
Het |
Myo16 |
A |
G |
8: 10,619,673 (GRCm39) |
Y1408C |
unknown |
Het |
N4bp2 |
T |
C |
5: 65,964,189 (GRCm39) |
V746A |
probably benign |
Het |
Oga |
G |
A |
19: 45,771,605 (GRCm39) |
|
probably benign |
Het |
Or4c120 |
A |
G |
2: 89,000,827 (GRCm39) |
I243T |
possibly damaging |
Het |
Or4d11 |
A |
G |
19: 12,013,752 (GRCm39) |
M118T |
probably damaging |
Het |
Or5p56 |
A |
G |
7: 107,589,805 (GRCm39) |
T78A |
possibly damaging |
Het |
Ostf1 |
C |
T |
19: 18,573,715 (GRCm39) |
M44I |
probably null |
Het |
Pik3c2b |
T |
G |
1: 133,033,712 (GRCm39) |
L1572R |
probably damaging |
Het |
Pilra |
T |
C |
5: 137,829,488 (GRCm39) |
D192G |
possibly damaging |
Het |
Pkhd1l1 |
A |
G |
15: 44,437,027 (GRCm39) |
I3462V |
probably benign |
Het |
Plekhh1 |
A |
G |
12: 79,113,429 (GRCm39) |
D619G |
probably benign |
Het |
Pramel31 |
C |
T |
4: 144,090,297 (GRCm39) |
R446C |
probably benign |
Het |
Ptprb |
T |
A |
10: 116,174,718 (GRCm39) |
Y797N |
probably damaging |
Het |
Rb1 |
T |
C |
14: 73,500,084 (GRCm39) |
D521G |
probably damaging |
Het |
Rnf17 |
T |
G |
14: 56,708,763 (GRCm39) |
F728V |
possibly damaging |
Het |
Slc16a4 |
T |
C |
3: 107,218,787 (GRCm39) |
S463P |
probably damaging |
Het |
Slc4a1 |
A |
T |
11: 102,244,693 (GRCm39) |
I634K |
probably damaging |
Het |
Slc4a1ap |
T |
C |
5: 31,701,201 (GRCm39) |
V634A |
probably benign |
Het |
Spam1 |
A |
G |
6: 24,800,583 (GRCm39) |
M441V |
probably benign |
Het |
Teddm3 |
A |
C |
16: 20,971,729 (GRCm39) |
L280* |
probably null |
Het |
Tmem231 |
T |
C |
8: 112,645,517 (GRCm39) |
|
probably null |
Het |
Tom1l1 |
T |
C |
11: 90,561,907 (GRCm39) |
|
probably null |
Het |
Topors |
C |
T |
4: 40,261,706 (GRCm39) |
G526D |
probably benign |
Het |
Trpm6 |
A |
T |
19: 18,790,911 (GRCm39) |
I649F |
possibly damaging |
Het |
Ttc16 |
T |
A |
2: 32,664,440 (GRCm39) |
M66L |
probably benign |
Het |
Vps13d |
G |
T |
4: 144,842,062 (GRCm39) |
A2619E |
|
Het |
Vps8 |
G |
A |
16: 21,345,191 (GRCm39) |
R838H |
probably damaging |
Het |
Vwde |
T |
A |
6: 13,215,799 (GRCm39) |
M86L |
probably benign |
Het |
Zfp64 |
A |
T |
2: 168,768,357 (GRCm39) |
D418E |
probably benign |
Het |
Zfp952 |
C |
T |
17: 33,222,606 (GRCm39) |
P362S |
possibly damaging |
Het |
Zglp1 |
T |
C |
9: 20,977,368 (GRCm39) |
E149G |
probably benign |
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 |
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'- CACCTGAAAACAGCCCTGTG -3'
(R):5'- TTGTTATCACCGAGAGCTGC -3'
Sequencing Primer
(F):5'- TGCAGGTACTCGGCATGG -3'
(R):5'- CTGAACAAGTACAGTGGCATCTTCTC -3'
|
Posted On |
2019-05-15 |