Incidental Mutation 'IGL01873:Tubgcp4'
ID |
178794 |
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 # |
IGL01873
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
121001135-121029251 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
T to C
at 121018665 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000140417
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039541]
[ENSMUST00000110657]
[ENSMUST00000110658]
[ENSMUST00000186659]
|
AlphaFold |
Q9D4F8 |
Predicted Effect |
probably null
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 null
Transcript: ENSMUST00000110657
|
SMART Domains |
Protein: ENSMUSP00000106285 Gene: ENSMUSG00000027263
Domain | Start | End | E-Value | Type |
Pfam:Spc97_Spc98
|
4 |
572 |
3.1e-115 |
PFAM |
|
Predicted Effect |
probably null
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 |
noncoding transcript
Transcript: ENSMUST00000126817
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133773
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135555
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138601
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144076
|
Predicted Effect |
probably null
Transcript: ENSMUST00000186659
|
SMART Domains |
Protein: ENSMUSP00000140417 Gene: ENSMUSG00000027263
Domain | Start | End | E-Value | Type |
Pfam:Spc97_Spc98
|
4 |
572 |
4.1e-115 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143305
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154633
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144123
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143320
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154318
|
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: 26 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Chd9 |
A |
G |
8: 91,660,395 (GRCm39) |
T452A |
probably benign |
Het |
Coq8a |
T |
A |
1: 180,006,542 (GRCm39) |
Q115L |
probably damaging |
Het |
Cul9 |
T |
C |
17: 46,813,378 (GRCm39) |
E2326G |
probably damaging |
Het |
Cyp2c69 |
A |
G |
19: 39,869,693 (GRCm39) |
|
probably benign |
Het |
Dennd5b |
A |
T |
6: 148,946,027 (GRCm39) |
M528K |
probably benign |
Het |
Gm10717 |
C |
T |
9: 3,025,616 (GRCm39) |
S67L |
probably benign |
Het |
Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
Gm5862 |
A |
C |
5: 26,227,769 (GRCm39) |
W41G |
probably benign |
Het |
Gm6665 |
T |
C |
18: 31,953,355 (GRCm39) |
S38G |
probably damaging |
Het |
Gsg1l |
A |
G |
7: 125,557,615 (GRCm39) |
V171A |
probably damaging |
Het |
Ighv5-2 |
A |
T |
12: 113,542,350 (GRCm39) |
S42T |
probably benign |
Het |
Itch |
C |
T |
2: 155,010,670 (GRCm39) |
T46I |
possibly damaging |
Het |
Itsn2 |
T |
G |
12: 4,682,366 (GRCm39) |
|
probably benign |
Het |
Lime1 |
T |
C |
2: 181,024,667 (GRCm39) |
V107A |
probably benign |
Het |
Mertk |
T |
C |
2: 128,571,195 (GRCm39) |
S50P |
possibly damaging |
Het |
Myo5b |
T |
A |
18: 74,713,467 (GRCm39) |
V104E |
probably damaging |
Het |
Nckap1 |
A |
T |
2: 80,383,729 (GRCm39) |
I145K |
possibly damaging |
Het |
Ppp4r3a |
A |
T |
12: 101,008,094 (GRCm39) |
I794N |
possibly damaging |
Het |
Psapl1 |
C |
A |
5: 36,362,569 (GRCm39) |
P387Q |
possibly damaging |
Het |
Ripk1 |
T |
A |
13: 34,193,707 (GRCm39) |
L23Q |
probably damaging |
Het |
Srrm4 |
G |
T |
5: 116,729,527 (GRCm39) |
|
probably benign |
Het |
St6galnac1 |
T |
A |
11: 116,657,437 (GRCm39) |
T376S |
probably damaging |
Het |
Tmem74 |
T |
C |
15: 43,730,782 (GRCm39) |
D87G |
probably benign |
Het |
Trav19 |
A |
G |
14: 54,083,173 (GRCm39) |
R83G |
probably benign |
Het |
Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
Zfat |
T |
C |
15: 68,096,744 (GRCm39) |
N23S |
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 |
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 |
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 |
2014-05-07 |