Incidental Mutation 'R8048:Tubgcp4'
| ID |
618855 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tubgcp4
|
| Ensembl Gene |
ENSMUSG00000027263 |
| Gene Name |
tubulin, gamma complex component 4 |
| Synonyms |
4932441P04Rik, D2Ertd435e |
| MMRRC Submission |
067485-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8048 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
121001135-121029251 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 121013981 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 178
(V178A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000044049
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039541]
[ENSMUST00000110657]
[ENSMUST00000110658]
[ENSMUST00000186659]
|
| AlphaFold |
Q9D4F8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000039541
AA Change: V178A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000044049
Gene: ENSMUSG00000027263
AA Change: V178A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Spc97_Spc98
|
4 |
573 |
2.8e-111 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110657
AA Change: V178A
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000106285
Gene: ENSMUSG00000027263
AA Change: V178A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Spc97_Spc98
|
4 |
572 |
3.1e-115 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110658
AA Change: V178A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000106286
Gene: ENSMUSG00000027263
AA Change: V178A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Spc97_Spc98
|
4 |
572 |
4.1e-115 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000186659
AA Change: V178A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000140417
Gene: ENSMUSG00000027263
AA Change: V178A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Spc97_Spc98
|
4 |
572 |
4.1e-115 |
PFAM |
|
| Meta Mutation Damage Score |
0.0663 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (65/65) |
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc1 |
A |
T |
16: 14,228,708 (GRCm39) |
L318F |
probably damaging |
Het |
| Alms1 |
T |
A |
6: 85,618,316 (GRCm39) |
S2318R |
probably benign |
Het |
| Arhgap12 |
G |
A |
18: 6,052,883 (GRCm39) |
T443I |
probably benign |
Het |
| Arhgap29 |
C |
T |
3: 121,786,550 (GRCm39) |
R372W |
probably damaging |
Het |
| Astn1 |
T |
C |
1: 158,516,208 (GRCm39) |
I1266T |
probably benign |
Het |
| Bsg |
T |
C |
10: 79,545,580 (GRCm39) |
V164A |
probably benign |
Het |
| C1qa |
G |
T |
4: 136,623,921 (GRCm39) |
S94R |
probably benign |
Het |
| Cadps2 |
A |
G |
6: 23,838,862 (GRCm39) |
V92A |
probably benign |
Het |
| Ccdc187 |
T |
A |
2: 26,183,526 (GRCm39) |
D158V |
possibly damaging |
Het |
| Cngb1 |
T |
A |
8: 95,989,838 (GRCm39) |
Y758F |
possibly damaging |
Het |
| Ddx4 |
G |
A |
13: 112,758,706 (GRCm39) |
A285V |
probably null |
Het |
| Dsg1c |
A |
T |
18: 20,407,824 (GRCm39) |
K390M |
probably damaging |
Het |
| Dst |
T |
C |
1: 34,229,717 (GRCm39) |
F2437L |
probably benign |
Het |
| Eln |
CTCCAGCTCCGAT |
C |
5: 134,758,003 (GRCm39) |
|
probably benign |
Het |
| Fam227a |
CATTGTCTTGA |
CA |
15: 79,533,959 (GRCm39) |
|
probably null |
Het |
| Fez2 |
T |
C |
17: 78,694,482 (GRCm39) |
I303V |
probably benign |
Het |
| Ffar1 |
A |
T |
7: 30,560,003 (GRCm39) |
I298N |
probably benign |
Het |
| Hpx |
C |
T |
7: 105,244,685 (GRCm39) |
V228I |
probably benign |
Het |
| Igkv1-117 |
T |
G |
6: 68,098,786 (GRCm39) |
C112G |
probably damaging |
Het |
| Il3ra |
A |
G |
14: 14,348,903 (GRCm38) |
D99G |
probably benign |
Het |
| Ivl |
T |
A |
3: 92,479,231 (GRCm39) |
K278M |
probably damaging |
Het |
| Lyst |
A |
G |
13: 13,862,230 (GRCm39) |
T2589A |
probably benign |
Het |
| Madd |
A |
T |
2: 90,984,793 (GRCm39) |
M1359K |
probably damaging |
Het |
| Nav3 |
T |
C |
10: 109,600,779 (GRCm39) |
T1283A |
probably benign |
Het |
| Ncapd2 |
G |
T |
6: 125,156,661 (GRCm39) |
C439* |
probably null |
Het |
| Nebl |
T |
C |
2: 17,429,333 (GRCm39) |
D266G |
probably benign |
Het |
| Oas1f |
G |
T |
5: 120,985,602 (GRCm39) |
G49V |
probably damaging |
Het |
| Oas1f |
A |
T |
5: 120,986,479 (GRCm39) |
Q144L |
possibly damaging |
Het |
| Or11g7 |
T |
C |
14: 50,691,373 (GRCm39) |
L288P |
possibly damaging |
Het |
| Or2ab1 |
A |
G |
11: 58,488,233 (GRCm39) |
I6V |
unknown |
Het |
| Or2n1 |
T |
C |
17: 38,486,419 (GRCm39) |
V148A |
probably benign |
Het |
| Or5an6 |
A |
G |
19: 12,371,719 (GRCm39) |
I31V |
not run |
Het |
| Or5j3 |
C |
T |
2: 86,128,672 (GRCm39) |
P171S |
probably benign |
Het |
| Or5m3 |
T |
G |
2: 85,838,524 (GRCm39) |
S135A |
probably damaging |
Het |
| Or5t18 |
T |
A |
2: 86,636,515 (GRCm39) |
Y276F |
probably damaging |
Het |
| Or6b6 |
C |
T |
7: 106,571,671 (GRCm39) |
|
probably benign |
Het |
| Or8b52 |
C |
T |
9: 38,577,108 (GRCm39) |
E11K |
probably benign |
Het |
| Or8j3c |
T |
A |
2: 86,253,651 (GRCm39) |
Y123F |
probably damaging |
Het |
| Pard3b |
T |
A |
1: 62,193,148 (GRCm39) |
V217E |
probably damaging |
Het |
| Pcdha2 |
T |
A |
18: 37,072,513 (GRCm39) |
I48N |
probably damaging |
Het |
| Pi4ka |
A |
G |
16: 17,120,991 (GRCm39) |
F1248L |
|
Het |
| Plekha2 |
A |
T |
8: 25,554,005 (GRCm39) |
|
probably benign |
Het |
| Plpp4 |
C |
T |
7: 128,981,201 (GRCm39) |
R151C |
unknown |
Het |
| Pramel14 |
T |
A |
4: 143,718,177 (GRCm39) |
Y422F |
probably benign |
Het |
| Prdm16 |
A |
G |
4: 154,405,339 (GRCm39) |
L1245P |
probably damaging |
Het |
| Prob1 |
G |
A |
18: 35,786,604 (GRCm39) |
A550V |
probably benign |
Het |
| Prok1 |
T |
C |
3: 107,144,408 (GRCm39) |
H65R |
probably benign |
Het |
| Ptcd1 |
A |
G |
5: 145,091,887 (GRCm39) |
V404A |
probably benign |
Het |
| Sbf2 |
T |
C |
7: 109,914,289 (GRCm39) |
E1631G |
probably benign |
Het |
| Sdad1 |
C |
A |
5: 92,447,948 (GRCm39) |
K262N |
probably benign |
Het |
| Sh3bp1 |
G |
T |
15: 78,794,272 (GRCm39) |
A547S |
probably benign |
Het |
| Sptb |
T |
C |
12: 76,675,333 (GRCm39) |
D227G |
probably benign |
Het |
| Tbx1 |
A |
G |
16: 18,406,769 (GRCm39) |
M1T |
probably null |
Het |
| Tespa1 |
T |
A |
10: 130,183,208 (GRCm39) |
V51D |
probably damaging |
Het |
| Tmc7 |
T |
C |
7: 118,165,468 (GRCm39) |
N82S |
probably benign |
Het |
| Tmem8b |
A |
G |
4: 43,689,476 (GRCm39) |
D290G |
possibly damaging |
Het |
| Trbv13-2 |
A |
T |
6: 41,098,493 (GRCm39) |
T23S |
probably damaging |
Het |
| Trib3 |
A |
T |
2: 152,180,553 (GRCm39) |
D213E |
probably damaging |
Het |
| Virma |
T |
A |
4: 11,539,918 (GRCm39) |
C1412* |
probably null |
Het |
| Vmn2r108 |
T |
C |
17: 20,691,762 (GRCm39) |
T254A |
probably benign |
Het |
| Vps13d |
A |
G |
4: 144,882,137 (GRCm39) |
V1152A |
|
Het |
| Wdr47 |
T |
C |
3: 108,526,284 (GRCm39) |
V269A |
probably damaging |
Het |
| Zc3h13 |
T |
A |
14: 75,561,977 (GRCm39) |
D676E |
unknown |
Het |
| Zc3h6 |
T |
A |
2: 128,858,934 (GRCm39) |
S988R |
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 |
|
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 |
|
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'- TCCATTACCTCCACTTATGTAAGAC -3'
(R):5'- AGCTGTTTTCCTGTCAGGCC -3'
Sequencing Primer
(F):5'- ACCTCCACTTATGTAAGACTCATTAG -3'
(R):5'- CTGTCAGGCCTCCAATGC -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation