Incidental Mutation 'R5886:Tubgcp6'
| ID |
456123 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tubgcp6
|
| Ensembl Gene |
ENSMUSG00000051786 |
| Gene Name |
tubulin, gamma complex component 6 |
| Synonyms |
|
| MMRRC Submission |
044088-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.963)
|
| Stock # |
R5886 (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 88987450 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 1166
(N1166K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000040132
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041656]
[ENSMUST00000082439]
[ENSMUST00000109353]
[ENSMUST00000166480]
|
| AlphaFold |
G5E8P0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000041656
AA Change: N1166K
PolyPhen 2
Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000040132
Gene: ENSMUSG00000051786
AA Change: N1166K
| 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: N1174K
PolyPhen 2
Score 0.606 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000104977
Gene: ENSMUSG00000051786
AA Change: N1174K
| 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: 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: 99.8%
- 3x: 99.4%
- 10x: 97.2%
- 20x: 91.0%
|
| Validation Efficiency |
96% (78/81) |
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acap1 |
A |
G |
11: 69,775,162 (GRCm39) |
V367A |
probably benign |
Het |
| Adam26b |
T |
C |
8: 43,973,310 (GRCm39) |
E564G |
possibly damaging |
Het |
| Akap1 |
A |
G |
11: 88,725,486 (GRCm39) |
|
probably null |
Het |
| Akap5 |
T |
A |
12: 76,374,619 (GRCm39) |
V10E |
possibly damaging |
Het |
| Atad2 |
A |
T |
15: 57,961,910 (GRCm39) |
L887* |
probably null |
Het |
| Brd10 |
T |
C |
19: 29,696,677 (GRCm39) |
I939V |
probably benign |
Het |
| C1qbp |
A |
G |
11: 70,873,008 (GRCm39) |
V122A |
probably benign |
Het |
| C1qtnf7 |
G |
A |
5: 43,772,998 (GRCm39) |
G92D |
probably damaging |
Het |
| Cacna1a |
T |
C |
8: 85,249,651 (GRCm39) |
I219T |
probably damaging |
Het |
| Capn12 |
A |
G |
7: 28,587,030 (GRCm39) |
N333S |
probably benign |
Het |
| Ccdc154 |
C |
T |
17: 25,390,792 (GRCm39) |
T644I |
probably benign |
Het |
| Cd200r1 |
T |
C |
16: 44,610,566 (GRCm39) |
S225P |
possibly damaging |
Het |
| Cntnap5a |
T |
C |
1: 116,499,402 (GRCm39) |
|
probably null |
Het |
| Coq4 |
A |
T |
2: 29,680,626 (GRCm39) |
|
probably benign |
Het |
| Cubn |
A |
T |
2: 13,324,834 (GRCm39) |
|
probably benign |
Het |
| Cyp4f17 |
A |
T |
17: 32,743,013 (GRCm39) |
S229C |
possibly damaging |
Het |
| Cysltr2 |
T |
C |
14: 73,266,931 (GRCm39) |
K260E |
probably benign |
Het |
| D930007J09Rik |
C |
A |
13: 32,986,819 (GRCm39) |
A200E |
probably benign |
Het |
| Dnah8 |
C |
T |
17: 31,013,691 (GRCm39) |
P3811S |
probably damaging |
Het |
| Duoxa1 |
A |
T |
2: 122,134,291 (GRCm39) |
S276T |
possibly damaging |
Het |
| Efcab15 |
A |
G |
11: 103,098,947 (GRCm39) |
|
probably null |
Het |
| Efhb |
T |
C |
17: 53,758,582 (GRCm39) |
I351M |
probably benign |
Het |
| Fat1 |
G |
A |
8: 45,480,718 (GRCm39) |
|
probably null |
Het |
| Fat1 |
A |
T |
8: 45,486,432 (GRCm39) |
T3329S |
probably damaging |
Het |
| Gad1-ps |
G |
A |
10: 99,281,009 (GRCm39) |
|
noncoding transcript |
Het |
| Gm973 |
T |
A |
1: 59,597,409 (GRCm39) |
|
probably benign |
Het |
| Gpr156 |
T |
A |
16: 37,799,375 (GRCm39) |
L124Q |
probably damaging |
Het |
| Hars2 |
T |
A |
18: 36,923,150 (GRCm39) |
|
probably benign |
Het |
| Hcrt |
G |
A |
11: 100,652,759 (GRCm39) |
A85V |
probably damaging |
Het |
| Hivep1 |
A |
G |
13: 42,310,088 (GRCm39) |
D776G |
probably damaging |
Het |
| Hmgcr |
A |
T |
13: 96,796,691 (GRCm39) |
S200T |
probably damaging |
Het |
| Krt40 |
C |
T |
11: 99,430,907 (GRCm39) |
A201T |
probably benign |
Het |
| Lca5 |
G |
A |
9: 83,281,734 (GRCm39) |
A350V |
probably benign |
Het |
| Lrig2 |
T |
A |
3: 104,370,014 (GRCm39) |
M515L |
probably benign |
Het |
| Mbd5 |
A |
G |
2: 49,162,464 (GRCm39) |
D90G |
probably damaging |
Het |
| Mfsd4a |
C |
T |
1: 131,995,465 (GRCm39) |
V56I |
probably damaging |
Het |
| Mpi |
A |
G |
9: 57,455,745 (GRCm39) |
|
probably benign |
Het |
| Mroh4 |
G |
T |
15: 74,478,296 (GRCm39) |
D935E |
possibly damaging |
Het |
| Mtg1 |
G |
T |
7: 139,729,778 (GRCm39) |
|
probably null |
Het |
| Nanos1 |
T |
A |
19: 60,745,268 (GRCm39) |
C189S |
probably damaging |
Het |
| Naprt |
A |
C |
15: 75,763,324 (GRCm39) |
|
probably null |
Het |
| Nubpl |
T |
A |
12: 52,228,092 (GRCm39) |
|
probably null |
Het |
| Or10ad1b |
T |
C |
15: 98,124,672 (GRCm39) |
T285A |
possibly damaging |
Het |
| Or10d4 |
G |
T |
9: 39,581,252 (GRCm39) |
V300L |
probably benign |
Het |
| Or8g23 |
T |
A |
9: 38,971,678 (GRCm39) |
T95S |
probably benign |
Het |
| Or9g20 |
A |
G |
2: 85,630,147 (GRCm39) |
S156P |
probably damaging |
Het |
| Otud4 |
T |
A |
8: 80,399,436 (GRCm39) |
Y717N |
probably damaging |
Het |
| Pakap |
T |
A |
4: 57,856,295 (GRCm39) |
D582E |
probably damaging |
Het |
| Pnpla1 |
T |
C |
17: 29,095,837 (GRCm39) |
F86S |
possibly damaging |
Het |
| Prlhr |
C |
T |
19: 60,456,014 (GRCm39) |
W184* |
probably null |
Het |
| Rtp3 |
A |
G |
9: 110,816,204 (GRCm39) |
S116P |
probably damaging |
Het |
| Sema3c |
T |
C |
5: 17,886,984 (GRCm39) |
I345T |
possibly damaging |
Het |
| Skor2 |
T |
C |
18: 76,947,124 (GRCm39) |
L282P |
unknown |
Het |
| Slc24a4 |
T |
C |
12: 102,226,674 (GRCm39) |
V468A |
probably damaging |
Het |
| Slfn8 |
C |
T |
11: 82,894,160 (GRCm39) |
M826I |
probably benign |
Het |
| Tacc2 |
A |
G |
7: 130,330,850 (GRCm39) |
D378G |
probably benign |
Het |
| Thbs3 |
C |
A |
3: 89,127,470 (GRCm39) |
D370E |
probably damaging |
Het |
| Tk1 |
CC |
GA |
11: 117,707,948 (GRCm39) |
|
probably benign |
Het |
| Tm7sf2 |
A |
G |
19: 6,116,572 (GRCm39) |
|
probably benign |
Het |
| Trappc8 |
T |
C |
18: 21,007,737 (GRCm39) |
Y126C |
probably damaging |
Het |
| Trim35 |
C |
G |
14: 66,541,502 (GRCm39) |
L209V |
possibly damaging |
Het |
| Trim35 |
T |
C |
14: 66,541,503 (GRCm39) |
L209P |
probably damaging |
Het |
| Trip12 |
C |
T |
1: 84,708,179 (GRCm39) |
|
probably benign |
Het |
| Trp53bp1 |
A |
G |
2: 121,035,502 (GRCm39) |
V1583A |
probably damaging |
Het |
| Tuba5-ps |
A |
G |
1: 134,447,937 (GRCm39) |
|
noncoding transcript |
Het |
| Usp54 |
C |
T |
14: 20,611,910 (GRCm39) |
D969N |
probably benign |
Het |
| Vldlr |
C |
A |
19: 27,221,171 (GRCm39) |
S612R |
probably benign |
Het |
| Vps13a |
T |
C |
19: 16,641,926 (GRCm39) |
T2234A |
probably benign |
Het |
| Vps39 |
A |
G |
2: 120,152,053 (GRCm39) |
|
probably benign |
Het |
| Zdhhc3 |
A |
T |
9: 122,920,146 (GRCm39) |
C120S |
probably benign |
Het |
| Zfp37 |
A |
G |
4: 62,109,471 (GRCm39) |
F531S |
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 |
|
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'- CAAGGGCTCCTCCAGAATCAAG -3'
(R):5'- GAATATGTCAGATGTGGCTCCTTC -3'
Sequencing Primer
(F):5'- CTCCTCCAGAATCAAGGGAGG -3'
(R):5'- TTCTCGGACACGGTGGAACATTC -3'
|
| Posted On |
2017-02-15 |
Incidental Mutation