Incidental Mutation 'R4996:Tubgcp6'
| ID |
385292 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tubgcp6
|
| Ensembl Gene |
ENSMUSG00000051786 |
| Gene Name |
tubulin, gamma complex component 6 |
| Synonyms |
|
| MMRRC Submission |
042590-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.963)
|
| Stock # |
R4996 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
88983300-89007411 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 88987693 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 1093
(N1093K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104977
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041656]
[ENSMUST00000082439]
[ENSMUST00000109353]
[ENSMUST00000166480]
|
| AlphaFold |
G5E8P0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000041656
AA Change: N1085K
PolyPhen 2
Score 0.262 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000040132
Gene: ENSMUSG00000051786
AA Change: N1085K
| 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: N1093K
PolyPhen 2
Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000104977
Gene: ENSMUSG00000051786
AA Change: N1093K
| 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
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.1%
- 20x: 91.5%
|
| 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: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930505A04Rik |
C |
T |
11: 30,376,349 (GRCm39) |
V173M |
probably damaging |
Het |
| Actl11 |
A |
G |
9: 107,808,934 (GRCm39) |
I1086V |
possibly damaging |
Het |
| Adgrv1 |
T |
C |
13: 81,726,853 (GRCm39) |
S500G |
probably benign |
Het |
| Ahcyl1 |
A |
T |
3: 107,575,603 (GRCm39) |
V394E |
probably damaging |
Het |
| Alg9 |
T |
C |
9: 50,720,005 (GRCm39) |
F494L |
probably damaging |
Het |
| Ankrd55 |
C |
A |
13: 112,492,622 (GRCm39) |
D264E |
possibly damaging |
Het |
| Asb14 |
A |
G |
14: 26,634,073 (GRCm39) |
N426S |
possibly damaging |
Het |
| Atm |
A |
T |
9: 53,435,807 (GRCm39) |
F168I |
probably benign |
Het |
| Atp13a4 |
A |
T |
16: 29,290,822 (GRCm39) |
I209N |
probably damaging |
Het |
| BB014433 |
A |
T |
8: 15,092,166 (GRCm39) |
L229Q |
probably benign |
Het |
| Calml3 |
T |
C |
13: 3,854,142 (GRCm39) |
D21G |
probably damaging |
Het |
| Capn10 |
A |
G |
1: 92,872,858 (GRCm39) |
N528S |
probably damaging |
Het |
| Ccnl2 |
T |
A |
4: 155,897,981 (GRCm39) |
D141E |
possibly damaging |
Het |
| Cd163 |
A |
G |
6: 124,296,106 (GRCm39) |
I817V |
probably benign |
Het |
| Cgnl1 |
CTTGCCCAGGTT |
CTT |
9: 71,632,108 (GRCm39) |
|
probably benign |
Het |
| Cln6 |
T |
A |
9: 62,757,937 (GRCm39) |
I232N |
probably damaging |
Het |
| Col22a1 |
A |
C |
15: 71,879,010 (GRCm39) |
V49G |
probably damaging |
Het |
| Csmd1 |
A |
T |
8: 15,960,452 (GRCm39) |
M3321K |
probably damaging |
Het |
| Cyp2u1 |
T |
A |
3: 131,091,933 (GRCm39) |
M196L |
probably benign |
Het |
| Dlec1 |
T |
G |
9: 118,975,118 (GRCm39) |
L1566R |
probably damaging |
Het |
| Dnajc3 |
A |
G |
14: 119,209,839 (GRCm39) |
T305A |
probably benign |
Het |
| Drp2 |
G |
A |
X: 133,342,065 (GRCm39) |
R567H |
probably damaging |
Homo |
| Efhd1 |
G |
T |
1: 87,192,280 (GRCm39) |
G37W |
possibly damaging |
Het |
| Exph5 |
G |
C |
9: 53,286,910 (GRCm39) |
E1330D |
possibly damaging |
Het |
| Fbln2 |
A |
T |
6: 91,242,992 (GRCm39) |
Y913F |
probably benign |
Het |
| Fmnl1 |
G |
A |
11: 103,073,482 (GRCm39) |
S167N |
possibly damaging |
Het |
| Frs3 |
A |
G |
17: 48,012,635 (GRCm39) |
E114G |
probably damaging |
Het |
| Gmpr2 |
T |
C |
14: 55,914,252 (GRCm39) |
I169T |
probably damaging |
Het |
| Gria2 |
A |
G |
3: 80,614,448 (GRCm39) |
S531P |
probably damaging |
Het |
| Hace1 |
G |
A |
10: 45,526,046 (GRCm39) |
A296T |
probably benign |
Het |
| Ift70a1 |
C |
T |
2: 75,810,266 (GRCm39) |
G606S |
probably benign |
Het |
| Inhbb |
A |
C |
1: 119,348,548 (GRCm39) |
L90R |
probably damaging |
Het |
| Insr |
C |
T |
8: 3,242,665 (GRCm39) |
R18Q |
probably null |
Het |
| Kdm6b |
G |
T |
11: 69,296,557 (GRCm39) |
P570Q |
probably damaging |
Het |
| Lama3 |
T |
C |
18: 12,651,800 (GRCm39) |
V1803A |
probably benign |
Het |
| Lpin3 |
T |
A |
2: 160,747,207 (GRCm39) |
L811Q |
probably damaging |
Het |
| Lrrc8e |
C |
T |
8: 4,285,166 (GRCm39) |
L464F |
probably damaging |
Het |
| Micall2 |
A |
G |
5: 139,696,344 (GRCm39) |
S729P |
probably benign |
Het |
| Naca |
C |
T |
10: 127,878,298 (GRCm39) |
|
probably benign |
Het |
| Nav1 |
A |
T |
1: 135,393,709 (GRCm39) |
S1010T |
probably damaging |
Het |
| Nefm |
T |
C |
14: 68,358,570 (GRCm39) |
|
probably benign |
Het |
| Nlrp9c |
A |
T |
7: 26,085,172 (GRCm39) |
F136I |
possibly damaging |
Het |
| Nup210 |
A |
T |
6: 91,030,418 (GRCm39) |
F137Y |
probably benign |
Het |
| Or1o3 |
A |
G |
17: 37,573,758 (GRCm39) |
S266P |
probably benign |
Het |
| Or3a1c |
A |
G |
11: 74,046,157 (GRCm39) |
H59R |
probably damaging |
Het |
| Or8k32 |
T |
C |
2: 86,368,615 (GRCm39) |
I215V |
probably benign |
Het |
| Otog |
C |
A |
7: 45,948,030 (GRCm39) |
H2344N |
possibly damaging |
Het |
| Otog |
C |
A |
7: 45,954,934 (GRCm39) |
C517* |
probably null |
Het |
| Pcdhac1 |
C |
T |
18: 37,225,580 (GRCm39) |
Q798* |
probably null |
Het |
| Pdhx |
T |
C |
2: 102,860,657 (GRCm39) |
D330G |
probably damaging |
Het |
| Peg10 |
ACATCAGGATCC |
ACATCAGGATCCCCATCAGGATCC |
6: 4,756,454 (GRCm39) |
|
probably benign |
Het |
| Pgr |
C |
A |
9: 8,900,914 (GRCm39) |
P149Q |
probably damaging |
Het |
| Plaat1 |
G |
A |
16: 29,036,456 (GRCm39) |
W31* |
probably null |
Het |
| Ppm1h |
A |
T |
10: 122,777,245 (GRCm39) |
I504F |
probably damaging |
Het |
| Ppp6r3 |
A |
G |
19: 3,523,833 (GRCm39) |
S556P |
probably damaging |
Het |
| Ranbp9 |
G |
A |
13: 43,578,570 (GRCm39) |
Q168* |
probably null |
Het |
| Relb |
A |
T |
7: 19,349,528 (GRCm39) |
L259Q |
probably benign |
Het |
| Rfx5 |
G |
A |
3: 94,863,126 (GRCm39) |
V73I |
probably benign |
Het |
| Rgcc |
T |
C |
14: 79,527,716 (GRCm39) |
D125G |
possibly damaging |
Het |
| Rmnd5b |
A |
G |
11: 51,518,735 (GRCm39) |
V86A |
probably damaging |
Het |
| Slc15a5 |
G |
A |
6: 138,020,583 (GRCm39) |
T250M |
probably damaging |
Het |
| Slc7a2 |
A |
T |
8: 41,365,599 (GRCm39) |
K477* |
probably null |
Het |
| Slx9 |
A |
T |
10: 77,351,367 (GRCm39) |
W14R |
probably null |
Het |
| Smc2 |
T |
A |
4: 52,461,042 (GRCm39) |
|
probably null |
Het |
| Sox5 |
A |
T |
6: 143,974,070 (GRCm39) |
L226* |
probably null |
Het |
| Sp140l2 |
G |
T |
1: 85,224,815 (GRCm39) |
A240E |
probably benign |
Het |
| Syne2 |
A |
G |
12: 75,990,724 (GRCm39) |
E1903G |
possibly damaging |
Het |
| Tenm3 |
A |
T |
8: 48,688,861 (GRCm39) |
I2226N |
probably damaging |
Het |
| Tmtc3 |
A |
T |
10: 100,283,086 (GRCm39) |
I823N |
probably damaging |
Het |
| Top6bl |
T |
A |
19: 4,676,112 (GRCm39) |
K673N |
probably benign |
Het |
| Tor3a |
T |
C |
1: 156,483,342 (GRCm39) |
Y360C |
probably damaging |
Het |
| Trpc3 |
T |
C |
3: 36,716,967 (GRCm39) |
E357G |
probably benign |
Het |
| Vmn1r64 |
T |
A |
7: 5,887,052 (GRCm39) |
T164S |
probably benign |
Het |
| Vmn2r40 |
T |
A |
7: 8,911,166 (GRCm39) |
Q709L |
probably damaging |
Het |
| Vmn2r81 |
A |
T |
10: 79,129,247 (GRCm39) |
I713L |
probably benign |
Het |
| Washc5 |
T |
C |
15: 59,205,484 (GRCm39) |
T686A |
probably benign |
Het |
| Wipf1 |
GCCTCCTCCTCCTCCTCCTCCTCC |
GCCTCCTCCTCCTCCTCCTCC |
2: 73,270,418 (GRCm39) |
|
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 |
|
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'- TTGATGCTGGCCTCTGACAC -3'
(R):5'- TACAGAGAGCCATGCTTCTGG -3'
Sequencing Primer
(F):5'- ACATGCCCGTGGACATTC -3'
(R):5'- GATGGCTCCTTGTCAGCAACTTAG -3'
|
| Posted On |
2016-05-10 |
Incidental Mutation