Incidental Mutation 'R7388:Tubgcp4'
| ID |
573235 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tubgcp4
|
| Ensembl Gene |
ENSMUSG00000027263 |
| Gene Name |
tubulin, gamma complex component 4 |
| Synonyms |
4932441P04Rik, D2Ertd435e |
| MMRRC Submission |
045470-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7388 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
121001135-121029251 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
G to A
at 121020447 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000044049
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039541]
[ENSMUST00000110647]
[ENSMUST00000110648]
[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 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 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 |
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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
100% (63/63) |
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afg3l2 |
T |
C |
18: 67,556,023 (GRCm39) |
E436G |
probably damaging |
Het |
| Agbl5 |
T |
A |
5: 31,060,583 (GRCm39) |
L759* |
probably null |
Het |
| Ankrd13b |
T |
C |
11: 77,363,583 (GRCm39) |
D460G |
probably benign |
Het |
| Apol10a |
A |
G |
15: 77,373,225 (GRCm39) |
D287G |
possibly damaging |
Het |
| Arhgap44 |
A |
T |
11: 64,915,094 (GRCm39) |
Y391* |
probably null |
Het |
| Asz1 |
G |
T |
6: 18,074,900 (GRCm39) |
S271R |
probably benign |
Het |
| AW554918 |
A |
G |
18: 25,473,170 (GRCm39) |
N325D |
probably benign |
Het |
| Brinp2 |
A |
T |
1: 158,082,579 (GRCm39) |
L247Q |
probably damaging |
Het |
| Casz1 |
A |
G |
4: 149,036,850 (GRCm39) |
D1704G |
unknown |
Het |
| Cdk5rap1 |
G |
A |
2: 154,202,595 (GRCm39) |
R212W |
probably damaging |
Het |
| Cdkl2 |
T |
A |
5: 92,167,318 (GRCm39) |
T444S |
probably benign |
Het |
| Cers2 |
T |
G |
3: 95,228,656 (GRCm39) |
F160V |
probably benign |
Het |
| Cfap276 |
T |
C |
3: 108,450,815 (GRCm39) |
F86L |
possibly damaging |
Het |
| Cga |
T |
A |
4: 34,907,076 (GRCm39) |
M99K |
probably benign |
Het |
| Cspp1 |
C |
T |
1: 10,135,572 (GRCm39) |
R138* |
probably null |
Het |
| Dao |
T |
G |
5: 114,153,273 (GRCm39) |
*133E |
probably null |
Het |
| Ddx1 |
A |
T |
12: 13,275,456 (GRCm39) |
C544S |
probably null |
Het |
| Dgkq |
A |
T |
5: 108,806,112 (GRCm39) |
V98E |
probably damaging |
Het |
| Dnah6 |
T |
A |
6: 73,169,300 (GRCm39) |
T434S |
possibly damaging |
Het |
| Dntt |
A |
G |
19: 41,027,418 (GRCm39) |
N162D |
probably benign |
Het |
| Dpysl5 |
T |
C |
5: 30,902,805 (GRCm39) |
V79A |
probably benign |
Het |
| Efcab3 |
T |
C |
11: 104,611,871 (GRCm39) |
L571P |
probably damaging |
Het |
| Ep300 |
T |
C |
15: 81,532,567 (GRCm39) |
C1602R |
unknown |
Het |
| Flrt3 |
C |
T |
2: 140,503,672 (GRCm39) |
|
probably null |
Het |
| Gk2 |
A |
G |
5: 97,604,757 (GRCm39) |
V27A |
probably damaging |
Het |
| Gnpat |
T |
G |
8: 125,614,553 (GRCm39) |
M663R |
probably benign |
Het |
| Hc |
A |
T |
2: 34,874,859 (GRCm39) |
|
probably null |
Het |
| Il12rb1 |
A |
G |
8: 71,263,271 (GRCm39) |
Y67C |
probably damaging |
Het |
| Ints15 |
G |
A |
5: 143,297,600 (GRCm39) |
A149V |
probably benign |
Het |
| Kmt2b |
C |
T |
7: 30,281,385 (GRCm39) |
D1229N |
probably damaging |
Het |
| Lamc1 |
T |
C |
1: 153,124,822 (GRCm39) |
T650A |
probably damaging |
Het |
| Lrp1 |
G |
A |
10: 127,419,766 (GRCm39) |
R948* |
probably null |
Het |
| Map3k21 |
T |
C |
8: 126,654,336 (GRCm39) |
I385T |
probably damaging |
Het |
| Mmrn1 |
T |
A |
6: 60,953,236 (GRCm39) |
S506T |
probably benign |
Het |
| Nlrp1a |
A |
G |
11: 71,014,023 (GRCm39) |
F409S |
probably damaging |
Het |
| Nlrp3 |
T |
A |
11: 59,455,892 (GRCm39) |
I896N |
probably benign |
Het |
| Noxred1 |
C |
A |
12: 87,273,799 (GRCm39) |
V81L |
probably damaging |
Het |
| Nrcam |
A |
T |
12: 44,645,272 (GRCm39) |
I1225F |
probably damaging |
Het |
| Or2z2 |
C |
T |
11: 58,346,481 (GRCm39) |
C98Y |
probably damaging |
Het |
| Otos |
T |
A |
1: 92,572,241 (GRCm39) |
|
probably null |
Het |
| Pcdh20 |
A |
G |
14: 88,706,103 (GRCm39) |
I399T |
probably benign |
Het |
| Pkhd1 |
C |
T |
1: 20,309,528 (GRCm39) |
V2807I |
not run |
Het |
| Prrx2 |
A |
G |
2: 30,770,902 (GRCm39) |
E235G |
probably damaging |
Het |
| Rab13 |
T |
C |
3: 90,128,327 (GRCm39) |
I41T |
probably damaging |
Het |
| Rai1 |
A |
C |
11: 60,080,201 (GRCm39) |
T1422P |
possibly damaging |
Het |
| Rcn1 |
C |
T |
2: 105,222,336 (GRCm39) |
V217M |
probably damaging |
Het |
| Scn2a |
T |
A |
2: 65,518,998 (GRCm39) |
V408E |
probably damaging |
Het |
| Sec16a |
C |
T |
2: 26,318,376 (GRCm39) |
A121T |
|
Het |
| Slc35d1 |
A |
G |
4: 103,046,982 (GRCm39) |
|
probably null |
Het |
| Slc39a6 |
A |
T |
18: 24,717,106 (GRCm39) |
V642E |
probably damaging |
Het |
| Slc6a19 |
G |
A |
13: 73,841,203 (GRCm39) |
A69V |
probably benign |
Het |
| Spink6 |
A |
T |
18: 44,215,386 (GRCm39) |
T79S |
probably damaging |
Het |
| Spire1 |
T |
C |
18: 67,652,950 (GRCm39) |
D170G |
probably damaging |
Het |
| Sugp1 |
T |
C |
8: 70,505,269 (GRCm39) |
S79P |
probably damaging |
Het |
| Syne3 |
A |
G |
12: 104,934,167 (GRCm39) |
Y201H |
probably damaging |
Het |
| Tbc1d10a |
T |
C |
11: 4,155,858 (GRCm39) |
|
probably null |
Het |
| Tmem14a |
C |
T |
1: 21,299,735 (GRCm39) |
Q122* |
probably null |
Het |
| Tmem161b |
C |
A |
13: 84,370,537 (GRCm39) |
|
probably benign |
Het |
| Trmt61a |
A |
G |
12: 111,645,321 (GRCm39) |
I86V |
possibly damaging |
Het |
| Vmn1r79 |
T |
A |
7: 11,910,668 (GRCm39) |
Y183* |
probably null |
Het |
| Vmn2r11 |
A |
T |
5: 109,202,742 (GRCm39) |
W112R |
probably benign |
Het |
| Vpreb1a |
T |
C |
16: 16,686,516 (GRCm39) |
K125E |
probably benign |
Het |
| Wdr6 |
A |
T |
9: 108,451,971 (GRCm39) |
F637L |
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 |
|
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 |
|
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'- TCAGTACCACTGGAGTACATTTTG -3'
(R):5'- GACTCCGGTCTAGTTCCTGAAG -3'
Sequencing Primer
(F):5'- ACCACTGGAGTACATTTTGTGTGTG -3'
(R):5'- CTGAAGACAGGCCGAGTCTG -3'
|
| Posted On |
2019-09-13 |
Incidental Mutation