Incidental Mutation 'R4093:Tubgcp4'
ID |
317707 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tubgcp4
|
Ensembl Gene |
ENSMUSG00000027263 |
Gene Name |
tubulin, gamma complex component 4 |
Synonyms |
4932441P04Rik, D2Ertd435e |
MMRRC Submission |
041627-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R4093 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
121001135-121029251 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 121025958 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Glutamine
at position 601
(L601Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000044049
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039541]
[ENSMUST00000110647]
[ENSMUST00000110648]
[ENSMUST00000110657]
[ENSMUST00000110658]
[ENSMUST00000186659]
|
AlphaFold |
Q9D4F8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000039541
AA Change: L601Q
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000044049 Gene: ENSMUSG00000027263 AA Change: L601Q
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
|
SMART Domains |
Protein: ENSMUSP00000106285 Gene: ENSMUSG00000027263
Domain | Start | End | E-Value | Type |
Pfam:Spc97_Spc98
|
4 |
572 |
3.1e-115 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000110658
AA Change: L600Q
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000106286 Gene: ENSMUSG00000027263 AA Change: L600Q
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: ENSMUST00000135890
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138601
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143305
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154318
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000186659
AA Change: L600Q
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000140417 Gene: ENSMUSG00000027263 AA Change: L600Q
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: ENSMUST00000147554
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000147540
|
Meta Mutation Damage Score |
0.0719 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.5%
|
Validation Efficiency |
92% (69/75) |
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: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akap9 |
A |
G |
5: 4,093,996 (GRCm39) |
M2173V |
probably damaging |
Het |
Alas1 |
G |
T |
9: 106,119,000 (GRCm39) |
|
probably null |
Het |
Angpt1 |
T |
C |
15: 42,386,941 (GRCm39) |
T138A |
probably damaging |
Het |
Atp2c2 |
G |
A |
8: 120,476,610 (GRCm39) |
|
probably null |
Het |
Cadm2 |
A |
G |
16: 66,581,675 (GRCm39) |
V210A |
possibly damaging |
Het |
Cfap70 |
A |
T |
14: 20,459,181 (GRCm39) |
D671E |
probably damaging |
Het |
Chd2 |
C |
T |
7: 73,150,764 (GRCm39) |
E322K |
possibly damaging |
Het |
Chrnd |
C |
T |
1: 87,118,729 (GRCm39) |
Q29* |
probably null |
Het |
Cip2a |
T |
C |
16: 48,821,339 (GRCm39) |
|
probably benign |
Het |
Cym |
A |
G |
3: 107,121,582 (GRCm39) |
S237P |
probably benign |
Het |
D030068K23Rik |
A |
G |
8: 109,978,091 (GRCm39) |
|
noncoding transcript |
Het |
Gsdma2 |
T |
A |
11: 98,541,677 (GRCm39) |
S135T |
probably benign |
Het |
Hc |
A |
T |
2: 34,873,819 (GRCm39) |
Y158* |
probably null |
Het |
Hoxb3 |
C |
A |
11: 96,236,926 (GRCm39) |
H335N |
probably damaging |
Het |
Htr2a |
G |
A |
14: 74,943,789 (GRCm39) |
M456I |
probably benign |
Het |
Ighv1-19 |
G |
A |
12: 114,672,350 (GRCm39) |
T90I |
probably damaging |
Het |
Kansl3 |
C |
A |
1: 36,384,035 (GRCm39) |
S729I |
probably damaging |
Het |
Kcnab1 |
T |
C |
3: 65,207,035 (GRCm39) |
I137T |
possibly damaging |
Het |
Kcnt1 |
A |
T |
2: 25,767,927 (GRCm39) |
E12V |
probably damaging |
Het |
Klk15 |
A |
T |
7: 43,588,204 (GRCm39) |
S171C |
possibly damaging |
Het |
Lcn2 |
A |
T |
2: 32,277,728 (GRCm39) |
M1K |
probably null |
Het |
Lrig1 |
T |
C |
6: 94,590,559 (GRCm39) |
D487G |
probably benign |
Het |
Lrp8 |
T |
A |
4: 107,700,468 (GRCm39) |
C135* |
probably null |
Het |
Lrrc31 |
C |
A |
3: 30,749,671 (GRCm39) |
S54I |
probably damaging |
Het |
Ltbp4 |
A |
G |
7: 27,024,641 (GRCm39) |
V663A |
possibly damaging |
Het |
Med27 |
G |
A |
2: 29,267,920 (GRCm39) |
|
probably benign |
Het |
Mical1 |
T |
C |
10: 41,362,933 (GRCm39) |
|
probably benign |
Het |
Myt1 |
A |
T |
2: 181,453,191 (GRCm39) |
M799L |
probably damaging |
Het |
Nlrc4 |
T |
C |
17: 74,752,953 (GRCm39) |
M477V |
probably benign |
Het |
Npy4r |
T |
C |
14: 33,869,098 (GRCm39) |
I63M |
probably benign |
Het |
Or2t43 |
A |
T |
11: 58,457,655 (GRCm39) |
I172N |
probably damaging |
Het |
Or52e15 |
C |
T |
7: 104,645,842 (GRCm39) |
G90S |
probably benign |
Het |
Or8b1b |
T |
A |
9: 38,375,379 (GRCm39) |
L14Q |
probably null |
Het |
Or8s10 |
T |
C |
15: 98,335,563 (GRCm39) |
L71P |
probably damaging |
Het |
Piezo1 |
A |
C |
8: 123,227,899 (GRCm39) |
|
probably null |
Het |
Ppp1r12c |
T |
C |
7: 4,486,366 (GRCm39) |
E601G |
probably damaging |
Het |
Proser1 |
T |
C |
3: 53,387,133 (GRCm39) |
|
probably null |
Het |
Psme2 |
A |
T |
14: 55,825,734 (GRCm39) |
N143K |
probably benign |
Het |
Pygo2 |
C |
A |
3: 89,340,571 (GRCm39) |
P323Q |
probably damaging |
Het |
Rab11b |
T |
C |
17: 33,968,763 (GRCm39) |
T77A |
possibly damaging |
Het |
Recql5 |
A |
G |
11: 115,795,714 (GRCm39) |
S190P |
probably benign |
Het |
Serpina12 |
A |
G |
12: 104,004,183 (GRCm39) |
F150L |
probably damaging |
Het |
Sfswap |
A |
G |
5: 129,637,805 (GRCm39) |
S821G |
possibly damaging |
Het |
Slc22a2 |
C |
T |
17: 12,831,281 (GRCm39) |
T357M |
probably damaging |
Het |
Spag6l |
A |
C |
16: 16,646,888 (GRCm39) |
N39K |
probably benign |
Het |
Srl |
A |
G |
16: 4,315,316 (GRCm39) |
S109P |
possibly damaging |
Het |
Tagap |
A |
T |
17: 8,148,255 (GRCm39) |
H152L |
probably damaging |
Het |
Tbx3 |
T |
A |
5: 119,818,813 (GRCm39) |
S463T |
probably benign |
Het |
Tcaf2 |
A |
G |
6: 42,619,772 (GRCm39) |
L85P |
probably damaging |
Het |
Tenm4 |
A |
T |
7: 96,544,979 (GRCm39) |
S2332C |
probably damaging |
Het |
Trim60 |
A |
T |
8: 65,454,030 (GRCm39) |
M73K |
probably benign |
Het |
Trpc1 |
T |
C |
9: 95,588,918 (GRCm39) |
T769A |
probably benign |
Het |
Unc5d |
T |
C |
8: 29,334,865 (GRCm39) |
Y154C |
possibly damaging |
Het |
Vmn1r185 |
A |
T |
7: 26,311,208 (GRCm39) |
V99E |
probably damaging |
Het |
Vmn1r57 |
G |
T |
7: 5,223,856 (GRCm39) |
S127I |
possibly damaging |
Het |
Vmn1r62 |
T |
A |
7: 5,678,943 (GRCm39) |
M208K |
probably damaging |
Het |
Vmn2r110 |
T |
C |
17: 20,803,642 (GRCm39) |
D311G |
possibly damaging |
Het |
Vmn2r48 |
C |
A |
7: 9,676,185 (GRCm39) |
S432I |
probably benign |
Het |
Vmn2r48 |
T |
A |
7: 9,676,186 (GRCm39) |
S432C |
probably damaging |
Het |
Vmn2r71 |
T |
C |
7: 85,270,442 (GRCm39) |
V536A |
probably benign |
Het |
Vstm2a |
A |
G |
11: 16,209,884 (GRCm39) |
T37A |
probably damaging |
Het |
Wfs1 |
T |
C |
5: 37,124,809 (GRCm39) |
H694R |
probably damaging |
Het |
Zdbf2 |
T |
C |
1: 63,348,940 (GRCm39) |
S2440P |
possibly damaging |
Het |
Zfp61 |
A |
G |
7: 23,990,700 (GRCm39) |
|
probably null |
Het |
Zfp64 |
T |
C |
2: 168,767,855 (GRCm39) |
T586A |
probably benign |
Het |
Zfp943 |
T |
A |
17: 22,211,963 (GRCm39) |
C350S |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TACTTGGGAGGGCCAAACAG -3'
(R):5'- ACCGATACCAGCGCTTTTATC -3'
Sequencing Primer
(F):5'- CCAAACAGCTTTGAAGGTTGC -3'
(R):5'- GATACCAGCGCTTTTATCTTTTTATC -3'
|
Posted On |
2015-05-15 |