Incidental Mutation 'R6195:Tubgcp6'
| ID |
502881 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tubgcp6
|
| Ensembl Gene |
ENSMUSG00000051786 |
| Gene Name |
tubulin, gamma complex associated protein 6 |
| Synonyms |
|
| MMRRC Submission |
044335-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.966)
|
| Stock # |
R6195 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
89098357-89123112 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 89122791 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 9
(D9E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104977
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041656]
[ENSMUST00000082197]
[ENSMUST00000109347]
[ENSMUST00000109353]
|
| AlphaFold |
G5E8P0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000041656
AA Change: D9E
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000040132
Gene: ENSMUSG00000051786
AA Change: D9E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Spc97_Spc98
|
355 |
1667 |
3.3e-119 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000082197
|
| SMART Domains |
Protein: ENSMUSP00000080832
Gene: ENSMUSG00000062906
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Hist_deacetyl
|
13 |
322 |
2.1e-85 |
PFAM |
|
low complexity region
|
478 |
489 |
N/A |
INTRINSIC |
|
low complexity region
|
583 |
595 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109347
|
| SMART Domains |
Protein: ENSMUSP00000104971
Gene: ENSMUSG00000062906
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Hist_deacetyl
|
13 |
251 |
6.1e-66 |
PFAM |
|
low complexity region
|
270 |
282 |
N/A |
INTRINSIC |
|
low complexity region
|
398 |
409 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109353
AA Change: D9E
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000104977
Gene: ENSMUSG00000051786
AA Change: D9E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Spc97_Spc98
|
355 |
1675 |
2.8e-94 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128908
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129398
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134111
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138245
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143465
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153195
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231098
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
97% (76/78) |
| 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 |
|---|
| A130010J15Rik |
A |
G |
1: 193,174,834 (GRCm38) |
|
probably null |
Het |
| Abtb1 |
T |
C |
6: 88,840,736 (GRCm38) |
E50G |
probably benign |
Het |
| Agbl2 |
T |
A |
2: 90,813,313 (GRCm38) |
D792E |
probably benign |
Het |
| Aoc1 |
C |
A |
6: 48,908,677 (GRCm38) |
N705K |
probably damaging |
Het |
| Araf |
G |
T |
X: 20,860,100 (GRCm38) |
R601L |
probably damaging |
Homo |
| Arhgef7 |
C |
T |
8: 11,822,017 (GRCm38) |
T701I |
probably damaging |
Het |
| Atg10 |
G |
T |
13: 91,208,436 (GRCm38) |
|
probably null |
Het |
| Atp5c1 |
T |
C |
2: 10,064,115 (GRCm38) |
I116M |
possibly damaging |
Het |
| Baz2b |
T |
A |
2: 59,907,511 (GRCm38) |
Q1818L |
possibly damaging |
Het |
| Bod1 |
A |
G |
11: 31,666,740 (GRCm38) |
*174Q |
probably null |
Het |
| Cacna1a |
A |
G |
8: 84,588,753 (GRCm38) |
Y1539C |
probably damaging |
Het |
| Creb3 |
A |
G |
4: 43,566,346 (GRCm38) |
D260G |
probably benign |
Het |
| Cyp1b1 |
G |
T |
17: 79,714,266 (GRCm38) |
L16M |
probably damaging |
Het |
| Dhx29 |
T |
A |
13: 112,964,537 (GRCm38) |
S1205T |
probably benign |
Het |
| Dlec1 |
A |
G |
9: 119,137,253 (GRCm38) |
K1097E |
probably benign |
Het |
| Dnah7b |
G |
A |
1: 46,204,269 (GRCm38) |
D1578N |
probably damaging |
Het |
| Dok3 |
T |
C |
13: 55,523,576 (GRCm38) |
N394S |
probably benign |
Het |
| Efhb |
A |
G |
17: 53,462,552 (GRCm38) |
F243S |
possibly damaging |
Het |
| Eif2ak2 |
A |
T |
17: 78,871,233 (GRCm38) |
Y137* |
probably null |
Het |
| Eif4e1b |
A |
G |
13: 54,784,205 (GRCm38) |
N34S |
probably null |
Het |
| F2rl3 |
A |
G |
8: 72,762,885 (GRCm38) |
T247A |
probably benign |
Het |
| Fam196a |
T |
C |
7: 134,918,648 (GRCm38) |
D51G |
probably damaging |
Het |
| Fan1 |
A |
T |
7: 64,354,371 (GRCm38) |
H782Q |
probably damaging |
Het |
| Fer1l5 |
T |
C |
1: 36,375,286 (GRCm38) |
|
probably null |
Het |
| Fer1l6 |
T |
C |
15: 58,637,957 (GRCm38) |
S1423P |
probably damaging |
Het |
| Fetub |
C |
T |
16: 22,932,331 (GRCm38) |
R143C |
probably damaging |
Het |
| Fgfbp1 |
T |
C |
5: 43,979,362 (GRCm38) |
D196G |
possibly damaging |
Het |
| Fxn |
G |
A |
19: 24,262,043 (GRCm38) |
R162C |
probably damaging |
Het |
| Fxr2 |
C |
T |
11: 69,652,273 (GRCm38) |
T632M |
probably benign |
Het |
| Gab1 |
A |
T |
8: 80,879,532 (GRCm38) |
Y24* |
probably null |
Het |
| Gcc2 |
T |
C |
10: 58,270,984 (GRCm38) |
S681P |
probably damaging |
Het |
| Git2 |
T |
C |
5: 114,767,114 (GRCm38) |
N94S |
probably benign |
Het |
| Gm17018 |
A |
G |
19: 45,577,019 (GRCm38) |
D144G |
probably damaging |
Het |
| Gm5538 |
G |
A |
3: 59,752,202 (GRCm38) |
V359I |
probably damaging |
Het |
| Gm5799 |
T |
G |
14: 43,544,631 (GRCm38) |
L87V |
probably damaging |
Het |
| Golga7b |
A |
T |
19: 42,263,447 (GRCm38) |
D44V |
probably benign |
Het |
| Hace1 |
T |
A |
10: 45,670,443 (GRCm38) |
I391N |
possibly damaging |
Het |
| Hmcn2 |
T |
C |
2: 31,384,115 (GRCm38) |
S1416P |
probably damaging |
Het |
| Hoxa11 |
G |
A |
6: 52,245,701 (GRCm38) |
R7C |
probably damaging |
Het |
| Igkv14-126 |
A |
T |
6: 67,896,491 (GRCm38) |
T68S |
possibly damaging |
Het |
| Itpr3 |
T |
C |
17: 27,086,960 (GRCm38) |
I164T |
probably damaging |
Het |
| Kif22 |
A |
G |
7: 127,028,959 (GRCm38) |
S540P |
probably damaging |
Het |
| Ldlr |
T |
A |
9: 21,731,781 (GRCm38) |
C34* |
probably null |
Het |
| Lrrtm4 |
T |
C |
6: 80,021,956 (GRCm38) |
L117P |
probably damaging |
Het |
| Mad2l1 |
G |
T |
6: 66,537,628 (GRCm38) |
G94C |
possibly damaging |
Het |
| Malrd1 |
C |
A |
2: 15,695,326 (GRCm38) |
H661Q |
probably damaging |
Het |
| Mical3 |
T |
A |
6: 121,016,835 (GRCm38) |
|
probably benign |
Het |
| Mipep |
T |
A |
14: 60,872,105 (GRCm38) |
W644R |
probably damaging |
Het |
| Mycl |
A |
G |
4: 122,999,920 (GRCm38) |
D171G |
probably damaging |
Het |
| Myof |
A |
G |
19: 37,913,357 (GRCm38) |
F997L |
possibly damaging |
Het |
| Nagpa |
C |
T |
16: 5,203,749 (GRCm38) |
R46H |
probably damaging |
Het |
| Nf1 |
A |
G |
11: 79,565,975 (GRCm38) |
Y629C |
probably damaging |
Het |
| Obscn |
T |
A |
11: 58,997,207 (GRCm38) |
E2164V |
probably damaging |
Het |
| Olfr1061 |
T |
C |
2: 86,413,207 (GRCm38) |
I282V |
probably damaging |
Het |
| Olfr1152 |
T |
C |
2: 87,868,560 (GRCm38) |
S190P |
possibly damaging |
Het |
| Olfr205 |
A |
G |
16: 59,329,422 (GRCm38) |
V29A |
possibly damaging |
Het |
| Olfr648 |
A |
T |
7: 104,179,754 (GRCm38) |
V218D |
possibly damaging |
Het |
| Pcdh20 |
T |
C |
14: 88,468,052 (GRCm38) |
E604G |
probably benign |
Het |
| Pcdhb7 |
G |
A |
18: 37,342,656 (GRCm38) |
V282I |
probably benign |
Het |
| Pcnx4 |
A |
G |
12: 72,556,874 (GRCm38) |
D523G |
possibly damaging |
Het |
| Pigx |
G |
A |
16: 32,084,586 (GRCm38) |
T219I |
probably damaging |
Het |
| Plch1 |
G |
T |
3: 63,740,789 (GRCm38) |
P399Q |
probably damaging |
Het |
| Pvrig |
T |
A |
5: 138,342,275 (GRCm38) |
F74I |
possibly damaging |
Het |
| Rsrp1 |
T |
A |
4: 134,926,802 (GRCm38) |
I255K |
probably damaging |
Het |
| Scn1a |
T |
A |
2: 66,277,618 (GRCm38) |
Y1588F |
possibly damaging |
Het |
| Serpina9 |
T |
A |
12: 104,001,407 (GRCm38) |
H243L |
probably damaging |
Het |
| Tapbp |
T |
C |
17: 33,919,982 (GRCm38) |
L41P |
probably damaging |
Het |
| Tbc1d16 |
T |
A |
11: 119,210,565 (GRCm38) |
K40* |
probably null |
Het |
| Tbc1d2 |
C |
T |
4: 46,629,912 (GRCm38) |
G252R |
probably benign |
Het |
| Tbc1d23 |
T |
C |
16: 57,231,350 (GRCm38) |
E6G |
possibly damaging |
Het |
| Tdrd6 |
A |
G |
17: 43,629,752 (GRCm38) |
V135A |
probably damaging |
Het |
| Tmem87a |
A |
T |
2: 120,392,175 (GRCm38) |
|
probably null |
Het |
| Tnrc18 |
T |
A |
5: 142,765,173 (GRCm38) |
K1217N |
unknown |
Het |
| Trim33 |
G |
A |
3: 103,337,532 (GRCm38) |
|
probably null |
Het |
| Ttn |
T |
A |
2: 76,737,653 (GRCm38) |
Y27632F |
probably benign |
Het |
| Uaca |
G |
A |
9: 60,870,044 (GRCm38) |
R571Q |
probably damaging |
Het |
| Zfp655 |
T |
A |
5: 145,243,762 (GRCm38) |
F143L |
possibly damaging |
Het |
|
| Other mutations in Tubgcp6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00417:Tubgcp6
|
APN |
15 |
89,104,008 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL00556:Tubgcp6
|
APN |
15 |
89,100,962 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL00943:Tubgcp6
|
APN |
15 |
89,122,397 (GRCm38) |
nonsense |
probably null |
|
|
IGL01284:Tubgcp6
|
APN |
15 |
89,110,055 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01363:Tubgcp6
|
APN |
15 |
89,107,525 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01386:Tubgcp6
|
APN |
15 |
89,107,996 (GRCm38) |
nonsense |
probably null |
|
|
IGL01792:Tubgcp6
|
APN |
15 |
89,101,281 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01866:Tubgcp6
|
APN |
15 |
89,103,488 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL02596:Tubgcp6
|
APN |
15 |
89,100,914 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02858:Tubgcp6
|
APN |
15 |
89,102,315 (GRCm38) |
nonsense |
probably null |
|
|
IGL02873:Tubgcp6
|
APN |
15 |
89,103,824 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL03400:Tubgcp6
|
APN |
15 |
89,108,099 (GRCm38) |
unclassified |
probably benign |
|
|
IGL02796:Tubgcp6
|
UTSW |
15 |
89,122,390 (GRCm38) |
missense |
probably benign |
0.03 |
|
R0010:Tubgcp6
|
UTSW |
15 |
89,103,183 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0308:Tubgcp6
|
UTSW |
15 |
89,122,436 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
R0440:Tubgcp6
|
UTSW |
15 |
89,103,065 (GRCm38) |
missense |
probably benign |
0.12 |
|
R0631:Tubgcp6
|
UTSW |
15 |
89,100,987 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1653:Tubgcp6
|
UTSW |
15 |
89,107,442 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1901:Tubgcp6
|
UTSW |
15 |
89,116,241 (GRCm38) |
missense |
possibly damaging |
0.68 |
|
R1902:Tubgcp6
|
UTSW |
15 |
89,116,241 (GRCm38) |
missense |
possibly damaging |
0.68 |
|
R1905:Tubgcp6
|
UTSW |
15 |
89,100,608 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2005:Tubgcp6
|
UTSW |
15 |
89,104,166 (GRCm38) |
missense |
probably benign |
0.01 |
|
R2067:Tubgcp6
|
UTSW |
15 |
89,104,489 (GRCm38) |
missense |
probably benign |
0.03 |
|
R2083:Tubgcp6
|
UTSW |
15 |
89,122,376 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2285:Tubgcp6
|
UTSW |
15 |
89,122,474 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2401:Tubgcp6
|
UTSW |
15 |
89,102,984 (GRCm38) |
missense |
probably benign |
0.22 |
|
R2436:Tubgcp6
|
UTSW |
15 |
89,102,365 (GRCm38) |
missense |
probably benign |
0.37 |
|
R3017:Tubgcp6
|
UTSW |
15 |
89,103,082 (GRCm38) |
nonsense |
probably null |
|
|
R3054:Tubgcp6
|
UTSW |
15 |
89,122,603 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3932:Tubgcp6
|
UTSW |
15 |
89,104,414 (GRCm38) |
unclassified |
probably benign |
|
|
R4350:Tubgcp6
|
UTSW |
15 |
89,103,995 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4472:Tubgcp6
|
UTSW |
15 |
89,103,654 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R4864:Tubgcp6
|
UTSW |
15 |
89,103,818 (GRCm38) |
missense |
probably benign |
|
|
R4937:Tubgcp6
|
UTSW |
15 |
89,101,549 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R4983:Tubgcp6
|
UTSW |
15 |
89,106,291 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4996:Tubgcp6
|
UTSW |
15 |
89,103,490 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R5044:Tubgcp6
|
UTSW |
15 |
89,099,545 (GRCm38) |
unclassified |
probably benign |
|
|
R5122:Tubgcp6
|
UTSW |
15 |
89,116,103 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5607:Tubgcp6
|
UTSW |
15 |
89,111,150 (GRCm38) |
missense |
probably benign |
0.02 |
|
R5608:Tubgcp6
|
UTSW |
15 |
89,111,150 (GRCm38) |
missense |
probably benign |
0.02 |
|
R5653:Tubgcp6
|
UTSW |
15 |
89,108,612 (GRCm38) |
missense |
possibly damaging |
0.47 |
|
R5886:Tubgcp6
|
UTSW |
15 |
89,103,247 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R5945:Tubgcp6
|
UTSW |
15 |
89,109,217 (GRCm38) |
splice site |
probably null |
|
|
R6111:Tubgcp6
|
UTSW |
15 |
89,100,920 (GRCm38) |
missense |
possibly damaging |
0.83 |
|
R6792:Tubgcp6
|
UTSW |
15 |
89,122,877 (GRCm38) |
start gained |
probably benign |
|
|
R7074:Tubgcp6
|
UTSW |
15 |
89,120,636 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7103:Tubgcp6
|
UTSW |
15 |
89,101,029 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R7274:Tubgcp6
|
UTSW |
15 |
89,102,970 (GRCm38) |
nonsense |
probably null |
|
|
R7275:Tubgcp6
|
UTSW |
15 |
89,102,943 (GRCm38) |
nonsense |
probably null |
|
|
R7514:Tubgcp6
|
UTSW |
15 |
89,120,525 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7540:Tubgcp6
|
UTSW |
15 |
89,102,323 (GRCm38) |
missense |
possibly damaging |
0.48 |
|
R7571:Tubgcp6
|
UTSW |
15 |
89,100,722 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7706:Tubgcp6
|
UTSW |
15 |
89,104,223 (GRCm38) |
missense |
probably benign |
|
|
R7721:Tubgcp6
|
UTSW |
15 |
89,101,401 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7980:Tubgcp6
|
UTSW |
15 |
89,102,029 (GRCm38) |
missense |
probably benign |
0.03 |
|
R7996:Tubgcp6
|
UTSW |
15 |
89,109,028 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R8095:Tubgcp6
|
UTSW |
15 |
89,122,774 (GRCm38) |
missense |
probably benign |
0.07 |
|
R8191:Tubgcp6
|
UTSW |
15 |
89,120,640 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8510:Tubgcp6
|
UTSW |
15 |
89,102,949 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R8839:Tubgcp6
|
UTSW |
15 |
89,103,478 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R8862:Tubgcp6
|
UTSW |
15 |
89,122,621 (GRCm38) |
missense |
probably benign |
0.03 |
|
R9044:Tubgcp6
|
UTSW |
15 |
89,103,194 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R9321:Tubgcp6
|
UTSW |
15 |
89,107,983 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9402:Tubgcp6
|
UTSW |
15 |
89,102,861 (GRCm38) |
missense |
probably benign |
0.01 |
|
R9428:Tubgcp6
|
UTSW |
15 |
89,100,897 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCTCAAATCGAAGGACAGCATGAG -3'
(R):5'- TGCAGTGCGAAACCTGAGAC -3'
Sequencing Primer
(F):5'- GACAGCATGAGGACCTTGTTTTTCAC -3'
(R):5'- AACCTGAGACGCGGATGC -3'
|
| Posted On |
2018-02-27 |
Incidental Mutation