Incidental Mutation 'IGL01112:Tubgcp4'
| ID |
50546 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tubgcp4
|
| Ensembl Gene |
ENSMUSG00000027263 |
| Gene Name |
tubulin, gamma complex component 4 |
| Synonyms |
4932441P04Rik, D2Ertd435e |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01112
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
121001135-121029251 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 121004082 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 41
(V41A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106285
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039541]
[ENSMUST00000079024]
[ENSMUST00000110657]
[ENSMUST00000110658]
[ENSMUST00000110661]
[ENSMUST00000186659]
[ENSMUST00000163766]
[ENSMUST00000146243]
|
| AlphaFold |
Q9D4F8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000039541
AA Change: V41A
PolyPhen 2
Score 0.072 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000044049
Gene: ENSMUSG00000027263
AA Change: V41A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Spc97_Spc98
|
4 |
573 |
2.8e-111 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000079024
|
| SMART Domains |
Protein: ENSMUSP00000078033
Gene: ENSMUSG00000050619
| Domain | Start | End | E-Value | Type |
|---|
|
SCAN
|
13 |
125 |
5.83e-70 |
SMART |
|
Pfam:Myb_DNA-bind_4
|
238 |
323 |
3e-21 |
PFAM |
|
Pfam:Myb_DNA-bind_4
|
399 |
484 |
4.1e-22 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110657
AA Change: V41A
PolyPhen 2
Score 0.105 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000106285
Gene: ENSMUSG00000027263
AA Change: V41A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Spc97_Spc98
|
4 |
572 |
3.1e-115 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110658
AA Change: V41A
PolyPhen 2
Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000106286
Gene: ENSMUSG00000027263
AA Change: V41A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Spc97_Spc98
|
4 |
572 |
4.1e-115 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110661
|
| SMART Domains |
Protein: ENSMUSP00000106289
Gene: ENSMUSG00000050619
| Domain | Start | End | E-Value | Type |
|---|
|
SCAN
|
13 |
125 |
5.83e-70 |
SMART |
|
Pfam:Myb_DNA-bind_4
|
238 |
323 |
5.4e-21 |
PFAM |
|
Pfam:Myb_DNA-bind_4
|
399 |
484 |
7.4e-22 |
PFAM |
|
low complexity region
|
518 |
532 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
665 |
687 |
2.99e-4 |
SMART |
|
ZnF_C2H2
|
693 |
715 |
2.75e-3 |
SMART |
|
ZnF_C2H2
|
721 |
743 |
8.02e-5 |
SMART |
|
ZnF_C2H2
|
749 |
771 |
1.13e-4 |
SMART |
|
ZnF_C2H2
|
777 |
799 |
1.18e-2 |
SMART |
|
ZnF_C2H2
|
805 |
827 |
1.33e-1 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130929
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133773
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000186659
AA Change: V41A
PolyPhen 2
Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000140417
Gene: ENSMUSG00000027263
AA Change: V41A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Spc97_Spc98
|
4 |
572 |
4.1e-115 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144076
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138601
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144123
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135555
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154633
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163766
|
| SMART Domains |
Protein: ENSMUSP00000125987
Gene: ENSMUSG00000050619
| Domain | Start | End | E-Value | Type |
|---|
|
SCAN
|
13 |
125 |
5.83e-70 |
SMART |
|
Pfam:Myb_DNA-bind_4
|
238 |
323 |
5.9e-21 |
PFAM |
|
Pfam:Myb_DNA-bind_4
|
434 |
519 |
1.3e-21 |
PFAM |
|
low complexity region
|
553 |
567 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
700 |
722 |
2.99e-4 |
SMART |
|
ZnF_C2H2
|
728 |
750 |
2.75e-3 |
SMART |
|
ZnF_C2H2
|
756 |
778 |
8.02e-5 |
SMART |
|
ZnF_C2H2
|
784 |
806 |
1.13e-4 |
SMART |
|
ZnF_C2H2
|
812 |
834 |
1.18e-2 |
SMART |
|
ZnF_C2H2
|
840 |
862 |
1.33e-1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000146243
|
| SMART Domains |
Protein: ENSMUSP00000120997
Gene: ENSMUSG00000050619
| Domain | Start | End | E-Value | Type |
|---|
|
SCAN
|
13 |
118 |
4.23e-58 |
SMART |
|
| Coding Region Coverage |
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ano1 |
T |
C |
7: 144,190,882 (GRCm39) |
I401V |
possibly damaging |
Het |
| Ap2a2 |
A |
T |
7: 141,184,932 (GRCm39) |
|
probably benign |
Het |
| Apol7c |
T |
A |
15: 77,410,637 (GRCm39) |
D103V |
probably damaging |
Het |
| Arid4a |
T |
C |
12: 71,119,507 (GRCm39) |
|
probably null |
Het |
| Atp2a1 |
A |
G |
7: 126,049,479 (GRCm39) |
V521A |
probably benign |
Het |
| Ccdc88c |
G |
T |
12: 100,883,062 (GRCm39) |
D1603E |
probably benign |
Het |
| Clec4f |
T |
C |
6: 83,630,182 (GRCm39) |
I125M |
probably benign |
Het |
| Dsc1 |
T |
C |
18: 20,227,679 (GRCm39) |
I520V |
probably benign |
Het |
| Eomes |
G |
A |
9: 118,311,334 (GRCm39) |
A386T |
probably damaging |
Het |
| Gldc |
C |
T |
19: 30,135,913 (GRCm39) |
|
probably null |
Het |
| Hectd4 |
G |
T |
5: 121,445,013 (GRCm39) |
M1420I |
probably benign |
Het |
| Hmcn1 |
A |
T |
1: 150,508,303 (GRCm39) |
|
probably benign |
Het |
| Ighv6-3 |
G |
A |
12: 114,355,335 (GRCm39) |
T118I |
possibly damaging |
Het |
| Krt82 |
A |
G |
15: 101,453,958 (GRCm39) |
F250S |
probably damaging |
Het |
| Ltb |
A |
G |
17: 35,413,576 (GRCm39) |
T27A |
probably benign |
Het |
| Mex3b |
T |
A |
7: 82,518,911 (GRCm39) |
S409T |
probably benign |
Het |
| Mki67 |
A |
T |
7: 135,315,745 (GRCm39) |
I39N |
probably damaging |
Het |
| Or51a7 |
A |
G |
7: 102,615,235 (GRCm39) |
|
probably benign |
Het |
| Palmd |
A |
G |
3: 116,717,922 (GRCm39) |
S192P |
probably damaging |
Het |
| Pcdh20 |
A |
T |
14: 88,704,636 (GRCm39) |
M888K |
probably benign |
Het |
| Pclo |
A |
T |
5: 14,731,083 (GRCm39) |
H3195L |
unknown |
Het |
| Pgm2 |
A |
T |
5: 64,260,225 (GRCm39) |
I137F |
possibly damaging |
Het |
| Polq |
T |
A |
16: 36,837,671 (GRCm39) |
N194K |
probably damaging |
Het |
| Rmnd1 |
T |
C |
10: 4,360,793 (GRCm39) |
|
probably null |
Het |
| Rnf114 |
T |
C |
2: 167,354,459 (GRCm39) |
M180T |
probably damaging |
Het |
| Sap30 |
A |
G |
8: 57,938,123 (GRCm39) |
F165L |
possibly damaging |
Het |
| Scgb3a2 |
T |
A |
18: 43,900,059 (GRCm39) |
|
probably benign |
Het |
| Sftpa1 |
A |
T |
14: 40,854,527 (GRCm39) |
N38I |
probably benign |
Het |
| Sumf1 |
A |
G |
6: 108,152,977 (GRCm39) |
F137S |
probably damaging |
Het |
| Tln2 |
C |
A |
9: 67,219,093 (GRCm39) |
R284L |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,570,703 (GRCm39) |
R26730Q |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,540,808 (GRCm39) |
R25732S |
probably damaging |
Het |
| Usp53 |
T |
A |
3: 122,751,367 (GRCm39) |
Q230L |
probably damaging |
Het |
| Vmn2r57 |
T |
C |
7: 41,074,467 (GRCm39) |
E532G |
probably damaging |
Het |
| Vps9d1 |
G |
T |
8: 123,972,769 (GRCm39) |
N454K |
probably damaging |
Het |
| Wdr55 |
T |
C |
18: 36,895,132 (GRCm39) |
|
probably null |
Het |
| Zfp263 |
T |
A |
16: 3,566,776 (GRCm39) |
C76S |
probably benign |
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 |
|
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 |
|
R8414:Tubgcp4
|
UTSW |
2 |
121,024,634 (GRCm39) |
missense |
probably benign |
0.02 |
|
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 |
|
| Posted On |
2013-06-21 |
Incidental Mutation