Incidental Mutation 'IGL01149:Tubgcp4'
| ID |
50644 |
| 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 # |
IGL01149
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
121001135-121029251 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 121015264 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 324
(D324G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106285
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039541]
[ENSMUST00000110657]
[ENSMUST00000110658]
[ENSMUST00000186659]
|
| AlphaFold |
Q9D4F8 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000039541
AA Change: D324G
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000044049
Gene: ENSMUSG00000027263
AA Change: D324G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Spc97_Spc98
|
4 |
573 |
2.8e-111 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000110657
AA Change: D324G
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000106285
Gene: ENSMUSG00000027263
AA Change: D324G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Spc97_Spc98
|
4 |
572 |
3.1e-115 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000110658
AA Change: D324G
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000106286
Gene: ENSMUSG00000027263
AA Change: D324G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Spc97_Spc98
|
4 |
572 |
4.1e-115 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126817
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133773
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135555
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138601
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000186659
AA Change: D324G
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000140417
Gene: ENSMUSG00000027263
AA Change: D324G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Spc97_Spc98
|
4 |
572 |
4.1e-115 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143320
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144076
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143305
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154633
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144123
|
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4632415L05Rik |
A |
G |
3: 19,949,276 (GRCm39) |
|
noncoding transcript |
Het |
| Aadacl4fm4 |
T |
C |
4: 144,400,349 (GRCm39) |
D143G |
probably benign |
Het |
| Adcy1 |
A |
C |
11: 7,087,385 (GRCm39) |
N420H |
probably damaging |
Het |
| Avp |
T |
C |
2: 130,422,593 (GRCm39) |
|
probably benign |
Het |
| B3galnt2 |
A |
T |
13: 14,155,270 (GRCm39) |
I216F |
probably benign |
Het |
| Cdc42bpa |
T |
C |
1: 179,902,137 (GRCm39) |
S465P |
probably damaging |
Het |
| Cdc42bpg |
T |
A |
19: 6,362,235 (GRCm39) |
|
probably benign |
Het |
| Cdcp2 |
T |
C |
4: 106,964,308 (GRCm39) |
F386S |
probably benign |
Het |
| Cdh4 |
A |
G |
2: 179,515,937 (GRCm39) |
T372A |
probably damaging |
Het |
| Clspn |
T |
G |
4: 126,466,971 (GRCm39) |
M612R |
probably damaging |
Het |
| Dll4 |
T |
C |
2: 119,161,590 (GRCm39) |
C391R |
probably damaging |
Het |
| Dll4 |
T |
C |
2: 119,163,226 (GRCm39) |
Y616H |
probably damaging |
Het |
| Exoc1 |
A |
G |
5: 76,690,091 (GRCm39) |
|
probably benign |
Het |
| F830045P16Rik |
A |
G |
2: 129,302,232 (GRCm39) |
|
probably null |
Het |
| Fhod1 |
A |
G |
8: 106,074,439 (GRCm39) |
|
probably benign |
Het |
| Fign |
T |
C |
2: 63,810,104 (GRCm39) |
R389G |
possibly damaging |
Het |
| Gm13941 |
T |
A |
2: 110,931,482 (GRCm39) |
E50V |
unknown |
Het |
| Kit |
C |
T |
5: 75,771,536 (GRCm39) |
T231M |
probably damaging |
Het |
| Neu3 |
T |
C |
7: 99,463,087 (GRCm39) |
H212R |
probably benign |
Het |
| Nup214 |
G |
T |
2: 31,924,712 (GRCm39) |
S1747I |
probably damaging |
Het |
| Or4f4b |
T |
C |
2: 111,314,446 (GRCm39) |
S224P |
probably damaging |
Het |
| Or4q3 |
G |
T |
14: 50,583,071 (GRCm39) |
A276E |
probably damaging |
Het |
| Or8b12i |
G |
T |
9: 20,082,826 (GRCm39) |
L14I |
probably damaging |
Het |
| Secisbp2 |
T |
C |
13: 51,830,491 (GRCm39) |
|
probably null |
Het |
| Slc26a10 |
G |
A |
10: 127,010,046 (GRCm39) |
|
probably benign |
Het |
| Slc7a6 |
T |
C |
8: 106,906,232 (GRCm39) |
S155P |
probably damaging |
Het |
| Slf1 |
A |
T |
13: 77,260,767 (GRCm39) |
I173N |
probably damaging |
Het |
| Tedc1 |
C |
T |
12: 113,126,808 (GRCm39) |
R357* |
probably null |
Het |
| Tkfc |
A |
G |
19: 10,578,015 (GRCm39) |
L38P |
probably damaging |
Het |
| Zfyve16 |
T |
C |
13: 92,644,791 (GRCm39) |
H1137R |
probably damaging |
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 |
|
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