Incidental Mutation 'R8414:Tubgcp4'
| ID |
652817 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tubgcp4
|
| Ensembl Gene |
ENSMUSG00000027263 |
| Gene Name |
tubulin, gamma complex component 4 |
| Synonyms |
4932441P04Rik, D2Ertd435e |
| MMRRC Submission |
067768-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8414 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
121001135-121029251 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 121024634 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 603
(I603N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106285
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039541]
[ENSMUST00000110647]
[ENSMUST00000110648]
[ENSMUST00000110657]
[ENSMUST00000110658]
[ENSMUST00000186659]
|
| AlphaFold |
Q9D4F8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000039541
|
| SMART Domains |
Protein: ENSMUSP00000044049
Gene: ENSMUSG00000027263
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Spc97_Spc98
|
4 |
573 |
2.8e-111 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110647
|
| SMART Domains |
Protein: ENSMUSP00000106277
Gene: ENSMUSG00000043909
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
136 |
149 |
N/A |
INTRINSIC |
|
low complexity region
|
158 |
169 |
N/A |
INTRINSIC |
|
low complexity region
|
647 |
661 |
N/A |
INTRINSIC |
|
low complexity region
|
1031 |
1042 |
N/A |
INTRINSIC |
|
low complexity region
|
1099 |
1112 |
N/A |
INTRINSIC |
|
low complexity region
|
1260 |
1272 |
N/A |
INTRINSIC |
|
low complexity region
|
1290 |
1332 |
N/A |
INTRINSIC |
|
Pfam:53-BP1_Tudor
|
1430 |
1551 |
2.5e-80 |
PFAM |
|
low complexity region
|
1581 |
1601 |
N/A |
INTRINSIC |
|
BRCT
|
1673 |
1785 |
7.13e-1 |
SMART |
|
BRCT
|
1813 |
1901 |
1.03e-6 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110648
|
| SMART Domains |
Protein: ENSMUSP00000106278
Gene: ENSMUSG00000043909
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
136 |
149 |
N/A |
INTRINSIC |
|
low complexity region
|
158 |
169 |
N/A |
INTRINSIC |
|
low complexity region
|
647 |
661 |
N/A |
INTRINSIC |
|
low complexity region
|
1031 |
1042 |
N/A |
INTRINSIC |
|
low complexity region
|
1099 |
1112 |
N/A |
INTRINSIC |
|
low complexity region
|
1260 |
1272 |
N/A |
INTRINSIC |
|
low complexity region
|
1290 |
1332 |
N/A |
INTRINSIC |
|
low complexity region
|
1389 |
1409 |
N/A |
INTRINSIC |
|
Pfam:53-BP1_Tudor
|
1480 |
1601 |
1.5e-80 |
PFAM |
|
low complexity region
|
1631 |
1651 |
N/A |
INTRINSIC |
|
BRCT
|
1723 |
1835 |
7.13e-1 |
SMART |
|
BRCT
|
1863 |
1951 |
1.03e-6 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110657
AA Change: I603N
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000106285
Gene: ENSMUSG00000027263
AA Change: I603N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Spc97_Spc98
|
4 |
572 |
3.1e-115 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110658
|
| SMART Domains |
Protein: ENSMUSP00000106286
Gene: ENSMUSG00000027263
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Spc97_Spc98
|
4 |
572 |
4.1e-115 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000147540
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000186659
|
| SMART Domains |
Protein: ENSMUSP00000140417
Gene: ENSMUSG00000027263
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Spc97_Spc98
|
4 |
572 |
4.1e-115 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.1%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a component of the gamma-tubulin ring complex, which is required for microtubule nucleation. In mammalian cells, the protein localizes to centrosomes in association with gamma-tubulin. Crystal structure analysis revealed a structure composed of five helical bundles arranged around conserved hydrophobic cores. An exposed surface area located in the C-terminal domain is essential and sufficient for direct binding to gamma-tubulin. Mutations in this gene that alter microtubule organization are associated with microcephaly and chorioretinopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2015]
|
| Allele List at MGI |
All alleles(2) : Gene trapped(2) |
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| AA467197 |
T |
C |
2: 122,480,237 (GRCm39) |
Y33H |
probably damaging |
Het |
| Abcc10 |
T |
C |
17: 46,623,273 (GRCm39) |
R880G |
probably benign |
Het |
| Abcg2 |
T |
A |
6: 58,646,221 (GRCm39) |
Y246N |
probably benign |
Het |
| Abhd18 |
A |
G |
3: 40,888,061 (GRCm39) |
M302V |
probably benign |
Het |
| Ablim2 |
A |
G |
5: 36,032,235 (GRCm39) |
D568G |
possibly damaging |
Het |
| Alpk2 |
T |
C |
18: 65,440,542 (GRCm39) |
R284G |
possibly damaging |
Het |
| AU021092 |
T |
C |
16: 5,034,649 (GRCm39) |
Y191C |
probably damaging |
Het |
| Bdp1 |
T |
A |
13: 100,200,985 (GRCm39) |
T751S |
probably benign |
Het |
| Brme1 |
A |
T |
8: 84,893,952 (GRCm39) |
E373V |
probably damaging |
Het |
| Ccdc136 |
A |
G |
6: 29,412,929 (GRCm39) |
E438G |
probably damaging |
Het |
| Cul2 |
C |
A |
18: 3,399,912 (GRCm39) |
N15K |
probably benign |
Het |
| Eml2 |
C |
A |
7: 18,913,220 (GRCm39) |
Q73K |
probably damaging |
Het |
| Epha6 |
C |
A |
16: 59,826,030 (GRCm39) |
R588S |
probably damaging |
Het |
| Eppk1 |
C |
T |
15: 75,994,319 (GRCm39) |
R854Q |
probably benign |
Het |
| Fbxw28 |
C |
T |
9: 109,155,604 (GRCm39) |
W389* |
probably null |
Het |
| Fcgbpl1 |
T |
A |
7: 27,842,158 (GRCm39) |
C698S |
probably damaging |
Het |
| Gbp4 |
A |
T |
5: 105,284,703 (GRCm39) |
V62E |
probably benign |
Het |
| Gtf2h1 |
C |
A |
7: 46,464,768 (GRCm39) |
T401K |
possibly damaging |
Het |
| Hif1a |
G |
T |
12: 73,984,428 (GRCm39) |
M294I |
probably benign |
Het |
| Irak2 |
A |
G |
6: 113,663,903 (GRCm39) |
N484S |
probably benign |
Het |
| Kcnj16 |
A |
G |
11: 110,916,441 (GRCm39) |
T368A |
probably benign |
Het |
| Kcnq1 |
G |
A |
7: 142,917,403 (GRCm39) |
G588D |
probably damaging |
Het |
| Kcnq5 |
G |
A |
1: 21,549,648 (GRCm39) |
R360C |
probably damaging |
Het |
| Nckap5 |
T |
G |
1: 125,942,357 (GRCm39) |
E1582D |
probably damaging |
Het |
| Nrip3 |
A |
G |
7: 109,362,735 (GRCm39) |
I183T |
possibly damaging |
Het |
| Or10g9 |
T |
A |
9: 39,912,241 (GRCm39) |
H94L |
probably benign |
Het |
| Or4c117 |
A |
G |
2: 88,956,058 (GRCm39) |
F6L |
probably benign |
Het |
| Pcdha2 |
C |
T |
18: 37,074,619 (GRCm39) |
S750L |
probably damaging |
Het |
| Pik3r2 |
T |
C |
8: 71,223,079 (GRCm39) |
Y447C |
probably damaging |
Het |
| Poteg |
T |
C |
8: 27,938,068 (GRCm39) |
Y75H |
probably benign |
Het |
| Proser1 |
G |
C |
3: 53,385,977 (GRCm39) |
G620R |
probably damaging |
Het |
| Prpsap1 |
A |
T |
11: 116,369,439 (GRCm39) |
L164H |
probably damaging |
Het |
| Rfc3 |
A |
T |
5: 151,568,381 (GRCm39) |
V195E |
possibly damaging |
Het |
| Sarm1 |
A |
T |
11: 78,378,794 (GRCm39) |
V417D |
probably damaging |
Het |
| She |
A |
G |
3: 89,739,174 (GRCm39) |
T122A |
probably benign |
Het |
| Spata31e1 |
A |
G |
13: 49,941,273 (GRCm39) |
S56P |
probably damaging |
Het |
| Srpra |
A |
G |
9: 35,126,133 (GRCm39) |
E442G |
probably benign |
Het |
| Sult2a6 |
T |
A |
7: 13,984,357 (GRCm39) |
R124S |
probably damaging |
Het |
| Synm |
T |
C |
7: 67,383,511 (GRCm39) |
T1384A |
probably benign |
Het |
| Tenm3 |
A |
G |
8: 48,746,544 (GRCm39) |
V1087A |
probably damaging |
Het |
| Ticam1 |
T |
A |
17: 56,578,340 (GRCm39) |
I252L |
probably benign |
Het |
| Trbv31 |
C |
A |
6: 41,534,697 (GRCm39) |
D89Y |
possibly damaging |
Het |
| Trpc7 |
G |
A |
13: 56,970,282 (GRCm39) |
T434I |
probably benign |
Het |
| Ugt3a1 |
A |
G |
15: 9,310,669 (GRCm39) |
N317S |
possibly damaging |
Het |
| Vdac1 |
C |
T |
11: 52,267,330 (GRCm39) |
T77I |
possibly damaging |
Het |
| Vmn2r113 |
A |
T |
17: 23,177,753 (GRCm39) |
R846* |
probably null |
Het |
| Zc3h12d |
GCCC |
GCC |
10: 7,715,735 (GRCm39) |
|
probably null |
Het |
| Zranb2 |
G |
T |
3: 157,252,312 (GRCm39) |
R310S |
unknown |
Het |
|
| Other mutations in Tubgcp4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00573:Tubgcp4
|
APN |
2 |
121,009,182 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01112:Tubgcp4
|
APN |
2 |
121,004,082 (GRCm39) |
missense |
probably benign |
0.10 |
|
IGL01149:Tubgcp4
|
APN |
2 |
121,015,264 (GRCm39) |
missense |
probably null |
0.01 |
|
IGL01869:Tubgcp4
|
APN |
2 |
121,006,269 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL01873:Tubgcp4
|
APN |
2 |
121,018,665 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01888:Tubgcp4
|
APN |
2 |
121,015,228 (GRCm39) |
missense |
probably benign |
0.15 |
|
IGL03060:Tubgcp4
|
APN |
2 |
121,007,071 (GRCm39) |
splice site |
probably benign |
|
|
IGL03333:Tubgcp4
|
APN |
2 |
121,026,654 (GRCm39) |
splice site |
probably null |
|
|
FR4589:Tubgcp4
|
UTSW |
2 |
121,005,944 (GRCm39) |
critical splice donor site |
probably benign |
|
|
G5030:Tubgcp4
|
UTSW |
2 |
121,014,815 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0482:Tubgcp4
|
UTSW |
2 |
121,005,855 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0512:Tubgcp4
|
UTSW |
2 |
121,005,900 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1433:Tubgcp4
|
UTSW |
2 |
121,005,905 (GRCm39) |
nonsense |
probably null |
|
|
R1488:Tubgcp4
|
UTSW |
2 |
121,007,031 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R1699:Tubgcp4
|
UTSW |
2 |
121,020,374 (GRCm39) |
nonsense |
probably null |
|
|
R1760:Tubgcp4
|
UTSW |
2 |
121,019,952 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1935:Tubgcp4
|
UTSW |
2 |
121,009,147 (GRCm39) |
splice site |
probably benign |
|
|
R2249:Tubgcp4
|
UTSW |
2 |
121,014,110 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R4093:Tubgcp4
|
UTSW |
2 |
121,025,958 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4422:Tubgcp4
|
UTSW |
2 |
121,019,882 (GRCm39) |
nonsense |
probably null |
|
|
R4433:Tubgcp4
|
UTSW |
2 |
121,014,954 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4541:Tubgcp4
|
UTSW |
2 |
121,025,907 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4670:Tubgcp4
|
UTSW |
2 |
121,004,146 (GRCm39) |
nonsense |
probably null |
|
|
R4873:Tubgcp4
|
UTSW |
2 |
121,015,330 (GRCm39) |
intron |
probably benign |
|
|
R4877:Tubgcp4
|
UTSW |
2 |
121,020,343 (GRCm39) |
missense |
probably benign |
|
|
R5044:Tubgcp4
|
UTSW |
2 |
121,004,061 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5436:Tubgcp4
|
UTSW |
2 |
121,024,663 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5436:Tubgcp4
|
UTSW |
2 |
121,018,617 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5566:Tubgcp4
|
UTSW |
2 |
121,015,251 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R6110:Tubgcp4
|
UTSW |
2 |
121,024,589 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6700:Tubgcp4
|
UTSW |
2 |
121,020,329 (GRCm39) |
missense |
probably benign |
0.11 |
|
R6980:Tubgcp4
|
UTSW |
2 |
121,025,946 (GRCm39) |
missense |
probably benign |
0.28 |
|
R6999:Tubgcp4
|
UTSW |
2 |
121,022,778 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7338:Tubgcp4
|
UTSW |
2 |
121,024,465 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7388:Tubgcp4
|
UTSW |
2 |
121,020,447 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7410:Tubgcp4
|
UTSW |
2 |
121,014,890 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8048:Tubgcp4
|
UTSW |
2 |
121,013,981 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8129:Tubgcp4
|
UTSW |
2 |
121,004,109 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R9006:Tubgcp4
|
UTSW |
2 |
121,015,251 (GRCm39) |
missense |
probably benign |
0.35 |
|
R9050:Tubgcp4
|
UTSW |
2 |
121,004,079 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGCTGCTTCATCAGATCAATTC -3'
(R):5'- TGGTTGATCCTGGTCCAACAG -3'
Sequencing Primer
(F):5'- TCTACGAGGGACTTTGAAAGCATCC -3'
(R):5'- GATCCTGGTCCAACAGATTTCTAAG -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation