Incidental Mutation 'R0010:Tubgcp6'
| ID |
32512 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tubgcp6
|
| Ensembl Gene |
ENSMUSG00000051786 |
| Gene Name |
tubulin, gamma complex component 6 |
| Synonyms |
|
| MMRRC Submission |
038305-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.963)
|
| Stock # |
R0010 (G1)
|
| Quality Score |
182 |
|
Status
|
Validated
(trace)
|
| Chromosome |
15 |
| Chromosomal Location |
88983300-89007411 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 88987386 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 1188
(S1188P)
|
| 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: S1188P
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000040132
Gene: ENSMUSG00000051786
AA Change: S1188P
| 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: S1196P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000104977
Gene: ENSMUSG00000051786
AA Change: S1196P
| 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: ENSMUST00000168256
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000169208
|
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.9%
|
| Validation Efficiency |
100% (89/89) |
| 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: 82 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrf3 |
T |
C |
5: 30,410,607 (GRCm39) |
|
probably benign |
Het |
| Ahrr |
G |
A |
13: 74,431,143 (GRCm39) |
|
probably benign |
Het |
| Aoc1l3 |
A |
T |
6: 48,965,840 (GRCm39) |
H616L |
probably damaging |
Het |
| Bbs7 |
T |
C |
3: 36,661,866 (GRCm39) |
|
probably null |
Het |
| Cacna1h |
T |
C |
17: 25,599,818 (GRCm39) |
K1566E |
probably damaging |
Het |
| Ccdc73 |
C |
T |
2: 104,811,332 (GRCm39) |
|
probably benign |
Het |
| Cd74 |
A |
T |
18: 60,942,143 (GRCm39) |
H124L |
probably benign |
Het |
| Cd74 |
A |
T |
18: 60,936,968 (GRCm39) |
|
probably benign |
Het |
| Cdk5rap2 |
T |
C |
4: 70,161,696 (GRCm39) |
E270G |
probably benign |
Het |
| Ces2a |
G |
A |
8: 105,468,028 (GRCm39) |
D520N |
probably benign |
Het |
| Cldnd1 |
T |
A |
16: 58,551,622 (GRCm39) |
|
probably benign |
Het |
| Cox17 |
T |
A |
16: 38,167,532 (GRCm39) |
C24S |
possibly damaging |
Het |
| Cyp2b9 |
T |
A |
7: 25,886,178 (GRCm39) |
|
probably benign |
Het |
| Dennd4a |
T |
C |
9: 64,803,997 (GRCm39) |
L1112P |
probably benign |
Het |
| Dennd4c |
T |
C |
4: 86,699,814 (GRCm39) |
S222P |
probably damaging |
Het |
| Dhx37 |
T |
A |
5: 125,508,680 (GRCm39) |
Q85L |
probably benign |
Het |
| Egfem1 |
G |
T |
3: 29,637,068 (GRCm39) |
C192F |
probably damaging |
Het |
| Eif3f |
A |
T |
7: 108,540,212 (GRCm39) |
N336Y |
possibly damaging |
Het |
| Evc2 |
T |
A |
5: 37,574,793 (GRCm39) |
L1016Q |
probably damaging |
Het |
| Fam114a2 |
G |
T |
11: 57,404,982 (GRCm39) |
T40N |
probably damaging |
Het |
| Fam135b |
T |
C |
15: 71,493,881 (GRCm39) |
K16R |
probably damaging |
Het |
| Fcho1 |
A |
G |
8: 72,162,643 (GRCm39) |
Y725H |
probably damaging |
Het |
| Frem1 |
T |
C |
4: 82,918,335 (GRCm39) |
I536V |
probably benign |
Het |
| Galnt2l |
G |
A |
8: 122,997,337 (GRCm39) |
|
probably benign |
Het |
| Ginm1 |
T |
C |
10: 7,651,138 (GRCm39) |
|
probably benign |
Het |
| Glrb |
A |
T |
3: 80,767,622 (GRCm39) |
|
probably benign |
Het |
| Glt6d1 |
C |
A |
2: 25,684,739 (GRCm39) |
|
probably null |
Het |
| Gm10320 |
T |
C |
13: 98,626,054 (GRCm39) |
Y110C |
probably damaging |
Het |
| Gm3985 |
A |
T |
8: 33,432,484 (GRCm39) |
|
noncoding transcript |
Het |
| Gm5422 |
A |
G |
10: 31,125,750 (GRCm39) |
|
noncoding transcript |
Het |
| Igkv6-29 |
A |
T |
6: 70,115,754 (GRCm39) |
|
probably benign |
Het |
| Inpp5d |
G |
A |
1: 87,625,268 (GRCm39) |
|
probably null |
Het |
| Itpr3 |
T |
G |
17: 27,339,951 (GRCm39) |
V2610G |
probably damaging |
Het |
| Kmt5c |
T |
A |
7: 4,749,207 (GRCm39) |
M88K |
probably benign |
Het |
| Lrp12 |
C |
T |
15: 39,741,672 (GRCm39) |
A367T |
probably damaging |
Het |
| Ltbp1 |
A |
G |
17: 75,670,386 (GRCm39) |
T1476A |
probably damaging |
Het |
| Mcoln2 |
C |
T |
3: 145,889,316 (GRCm39) |
T374M |
probably damaging |
Het |
| Milr1 |
T |
G |
11: 106,657,829 (GRCm39) |
*209G |
probably null |
Het |
| Mitf |
A |
G |
6: 97,784,242 (GRCm39) |
K33R |
probably benign |
Het |
| Mon2 |
A |
C |
10: 122,868,599 (GRCm39) |
S485A |
probably damaging |
Het |
| Mpdu1 |
C |
T |
11: 69,549,667 (GRCm39) |
G47R |
probably damaging |
Het |
| Ms4a4d |
A |
G |
19: 11,532,190 (GRCm39) |
N112S |
probably damaging |
Het |
| Mybpc3 |
G |
A |
2: 90,965,178 (GRCm39) |
W1082* |
probably null |
Het |
| Myl3 |
A |
C |
9: 110,596,997 (GRCm39) |
D119A |
probably damaging |
Het |
| Naa15 |
A |
T |
3: 51,343,634 (GRCm39) |
|
probably null |
Het |
| Nav3 |
A |
G |
10: 109,659,087 (GRCm39) |
|
probably benign |
Het |
| Nek7 |
T |
A |
1: 138,471,942 (GRCm39) |
Q66L |
possibly damaging |
Het |
| Nktr |
G |
A |
9: 121,570,232 (GRCm39) |
|
probably benign |
Het |
| Nlgn1 |
G |
T |
3: 25,490,006 (GRCm39) |
|
probably benign |
Het |
| Npr1 |
T |
C |
3: 90,362,139 (GRCm39) |
E1002G |
probably damaging |
Het |
| Nup133 |
A |
T |
8: 124,631,318 (GRCm39) |
I1072N |
probably damaging |
Het |
| Oc90 |
C |
T |
15: 65,748,397 (GRCm39) |
C371Y |
probably damaging |
Het |
| Or5ak24 |
A |
T |
2: 85,260,239 (GRCm39) |
D311E |
probably benign |
Het |
| Or7g20 |
A |
T |
9: 18,946,618 (GRCm39) |
L66F |
probably damaging |
Het |
| Or8b42 |
A |
T |
9: 38,342,216 (GRCm39) |
I213F |
possibly damaging |
Het |
| Pradc1 |
A |
T |
6: 85,424,213 (GRCm39) |
N44K |
probably damaging |
Het |
| Pradc1 |
T |
C |
6: 85,424,602 (GRCm39) |
D116G |
probably damaging |
Het |
| Ptprk |
G |
A |
10: 28,461,965 (GRCm39) |
C91Y |
probably damaging |
Het |
| Pus7 |
T |
C |
5: 23,952,843 (GRCm39) |
I491V |
probably benign |
Het |
| Rock1 |
T |
A |
18: 10,084,380 (GRCm39) |
D951V |
probably damaging |
Het |
| Scgb2b26 |
T |
A |
7: 33,643,774 (GRCm39) |
E55D |
probably damaging |
Het |
| Scn8a |
T |
C |
15: 100,911,454 (GRCm39) |
V958A |
probably damaging |
Het |
| Sec14l1 |
T |
C |
11: 117,034,596 (GRCm39) |
|
probably benign |
Het |
| Sec24c |
A |
G |
14: 20,739,329 (GRCm39) |
|
probably benign |
Het |
| Sema6b |
C |
T |
17: 56,431,105 (GRCm39) |
E853K |
probably benign |
Het |
| Sgk1 |
G |
A |
10: 21,873,337 (GRCm39) |
|
probably null |
Het |
| Shprh |
C |
T |
10: 11,027,675 (GRCm39) |
T94I |
probably benign |
Het |
| Slc16a3 |
T |
C |
11: 120,847,531 (GRCm39) |
S240P |
probably benign |
Het |
| Slc5a8 |
T |
C |
10: 88,722,452 (GRCm39) |
V95A |
probably benign |
Het |
| Smg1 |
A |
T |
7: 117,771,082 (GRCm39) |
|
probably benign |
Het |
| Spta1 |
G |
A |
1: 174,045,509 (GRCm39) |
V1556I |
probably benign |
Het |
| Trappc14 |
T |
C |
5: 138,258,555 (GRCm39) |
|
probably null |
Het |
| Trappc4 |
G |
A |
9: 44,316,528 (GRCm39) |
|
probably benign |
Het |
| Txlna |
T |
G |
4: 129,522,879 (GRCm39) |
D487A |
probably benign |
Het |
| Ube2d2b |
T |
C |
5: 107,978,502 (GRCm39) |
F51S |
possibly damaging |
Het |
| Vmn2r6 |
G |
A |
3: 64,466,966 (GRCm39) |
Q178* |
probably null |
Het |
| Wdfy3 |
T |
C |
5: 101,996,215 (GRCm39) |
T3234A |
probably damaging |
Het |
| Ylpm1 |
C |
A |
12: 85,075,800 (GRCm39) |
Q384K |
probably damaging |
Het |
| Zbtb41 |
T |
G |
1: 139,351,268 (GRCm39) |
V127G |
probably damaging |
Het |
| Zfp605 |
T |
A |
5: 110,275,400 (GRCm39) |
C173S |
probably benign |
Het |
| Zfp608 |
A |
T |
18: 55,028,286 (GRCm39) |
|
probably benign |
Het |
| Zhx2 |
T |
C |
15: 57,684,670 (GRCm39) |
V13A |
possibly 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 |
|
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 |
|
|
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'- AAGCCAGAACACACGGTAGGCTTC -3'
(R):5'- GTGTCAGATGCCAGCATCAAGGTAG -3'
Sequencing Primer
(F):5'- TCTGTGCTTCCACACCAAG -3'
(R):5'- ATCAGATGTGACTCCTTCTCGG -3'
|
| Posted On |
2013-05-09 |
Incidental Mutation