Incidental Mutation 'R4670:Tubgcp4'
| ID |
348344 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tubgcp4
|
| Ensembl Gene |
ENSMUSG00000027263 |
| Gene Name |
tubulin, gamma complex component 4 |
| Synonyms |
4932441P04Rik, D2Ertd435e |
| MMRRC Submission |
041926-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4670 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
121001135-121029251 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 121004146 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 62
(Y62*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140417
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039541]
[ENSMUST00000079024]
[ENSMUST00000110657]
[ENSMUST00000110658]
[ENSMUST00000110661]
[ENSMUST00000186659]
[ENSMUST00000146243]
[ENSMUST00000163766]
|
| AlphaFold |
Q9D4F8 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000039541
AA Change: Y62*
|
| SMART Domains |
Protein: ENSMUSP00000044049
Gene: ENSMUSG00000027263
AA Change: Y62*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Spc97_Spc98
|
4 |
573 |
2.8e-111 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000079024
|
| SMART Domains |
Protein: ENSMUSP00000078033
Gene: ENSMUSG00000050619
| Domain | Start | End | E-Value | Type |
|---|
|
SCAN
|
13 |
125 |
5.83e-70 |
SMART |
|
Pfam:Myb_DNA-bind_4
|
238 |
323 |
3e-21 |
PFAM |
|
Pfam:Myb_DNA-bind_4
|
399 |
484 |
4.1e-22 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000110657
AA Change: Y62*
|
| SMART Domains |
Protein: ENSMUSP00000106285
Gene: ENSMUSG00000027263
AA Change: Y62*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Spc97_Spc98
|
4 |
572 |
3.1e-115 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000110658
AA Change: Y62*
|
| SMART Domains |
Protein: ENSMUSP00000106286
Gene: ENSMUSG00000027263
AA Change: Y62*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Spc97_Spc98
|
4 |
572 |
4.1e-115 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110661
|
| SMART Domains |
Protein: ENSMUSP00000106289
Gene: ENSMUSG00000050619
| Domain | Start | End | E-Value | Type |
|---|
|
SCAN
|
13 |
125 |
5.83e-70 |
SMART |
|
Pfam:Myb_DNA-bind_4
|
238 |
323 |
5.4e-21 |
PFAM |
|
Pfam:Myb_DNA-bind_4
|
399 |
484 |
7.4e-22 |
PFAM |
|
low complexity region
|
518 |
532 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
665 |
687 |
2.99e-4 |
SMART |
|
ZnF_C2H2
|
693 |
715 |
2.75e-3 |
SMART |
|
ZnF_C2H2
|
721 |
743 |
8.02e-5 |
SMART |
|
ZnF_C2H2
|
749 |
771 |
1.13e-4 |
SMART |
|
ZnF_C2H2
|
777 |
799 |
1.18e-2 |
SMART |
|
ZnF_C2H2
|
805 |
827 |
1.33e-1 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130929
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000144123
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154633
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000186659
AA Change: Y62*
|
| SMART Domains |
Protein: ENSMUSP00000140417
Gene: ENSMUSG00000027263
AA Change: Y62*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Spc97_Spc98
|
4 |
572 |
4.1e-115 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000146243
|
| SMART Domains |
Protein: ENSMUSP00000120997
Gene: ENSMUSG00000050619
| Domain | Start | End | E-Value | Type |
|---|
|
SCAN
|
13 |
118 |
4.23e-58 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163766
|
| SMART Domains |
Protein: ENSMUSP00000125987
Gene: ENSMUSG00000050619
| Domain | Start | End | E-Value | Type |
|---|
|
SCAN
|
13 |
125 |
5.83e-70 |
SMART |
|
Pfam:Myb_DNA-bind_4
|
238 |
323 |
5.9e-21 |
PFAM |
|
Pfam:Myb_DNA-bind_4
|
434 |
519 |
1.3e-21 |
PFAM |
|
low complexity region
|
553 |
567 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
700 |
722 |
2.99e-4 |
SMART |
|
ZnF_C2H2
|
728 |
750 |
2.75e-3 |
SMART |
|
ZnF_C2H2
|
756 |
778 |
8.02e-5 |
SMART |
|
ZnF_C2H2
|
784 |
806 |
1.13e-4 |
SMART |
|
ZnF_C2H2
|
812 |
834 |
1.18e-2 |
SMART |
|
ZnF_C2H2
|
840 |
862 |
1.33e-1 |
SMART |
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
| Validation Efficiency |
97% (69/71) |
| 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 |
|---|
| Acsm5 |
T |
A |
7: 119,130,983 (GRCm39) |
|
probably null |
Het |
| Alb |
T |
A |
5: 90,610,665 (GRCm39) |
S82T |
probably benign |
Het |
| Arf4 |
A |
G |
14: 26,374,248 (GRCm39) |
|
probably benign |
Het |
| Arhgap22 |
T |
C |
14: 33,084,500 (GRCm39) |
C260R |
probably damaging |
Het |
| Arhgap32 |
A |
G |
9: 32,081,441 (GRCm39) |
E153G |
probably benign |
Het |
| Arhgef18 |
T |
A |
8: 3,484,897 (GRCm39) |
M200K |
probably damaging |
Het |
| Atp1a4 |
T |
A |
1: 172,062,567 (GRCm39) |
N647Y |
probably benign |
Het |
| Atp5f1c |
A |
T |
2: 10,064,428 (GRCm39) |
L226Q |
probably damaging |
Het |
| Bcas1 |
T |
C |
2: 170,226,245 (GRCm39) |
K310R |
probably damaging |
Het |
| Cadm3 |
T |
A |
1: 173,174,013 (GRCm39) |
T67S |
probably damaging |
Het |
| Cartpt |
C |
T |
13: 100,036,588 (GRCm39) |
|
probably null |
Het |
| Cenpj |
A |
T |
14: 56,790,840 (GRCm39) |
V403E |
possibly damaging |
Het |
| Chst7 |
C |
A |
X: 19,927,110 (GRCm39) |
R386S |
probably damaging |
Het |
| Cyp4f37 |
A |
T |
17: 32,844,126 (GRCm39) |
M77L |
probably benign |
Het |
| Dnah7b |
A |
T |
1: 46,117,684 (GRCm39) |
D50V |
probably damaging |
Het |
| Galnt4 |
A |
G |
10: 98,945,160 (GRCm39) |
D295G |
possibly damaging |
Het |
| Gin1 |
C |
T |
1: 97,712,565 (GRCm39) |
P154S |
probably damaging |
Het |
| Gm6471 |
G |
A |
7: 142,385,360 (GRCm39) |
|
noncoding transcript |
Het |
| Gm6818 |
T |
A |
7: 38,101,981 (GRCm39) |
|
noncoding transcript |
Het |
| Gm9271 |
T |
A |
7: 39,013,734 (GRCm39) |
|
noncoding transcript |
Het |
| Gpam |
A |
G |
19: 55,084,551 (GRCm39) |
|
probably null |
Het |
| Gpr183 |
T |
C |
14: 122,192,149 (GRCm39) |
D124G |
probably damaging |
Het |
| Ift140 |
C |
A |
17: 25,317,935 (GRCm39) |
|
probably benign |
Het |
| Itih5 |
A |
C |
2: 10,195,180 (GRCm39) |
I191L |
probably benign |
Het |
| Jcad |
A |
G |
18: 4,674,175 (GRCm39) |
T646A |
probably benign |
Het |
| Kank1 |
T |
C |
19: 25,387,944 (GRCm39) |
M511T |
probably benign |
Het |
| Krt74 |
A |
T |
15: 101,667,304 (GRCm39) |
|
noncoding transcript |
Het |
| Lrrc37a |
A |
G |
11: 103,395,363 (GRCm39) |
S21P |
probably benign |
Het |
| Lrrc8c |
G |
A |
5: 105,756,240 (GRCm39) |
V672I |
probably benign |
Het |
| Lypd4 |
T |
C |
7: 24,566,151 (GRCm39) |
R58G |
probably benign |
Het |
| Magi1 |
A |
T |
6: 93,663,624 (GRCm39) |
|
probably null |
Het |
| Mefv |
T |
A |
16: 3,526,071 (GRCm39) |
L745F |
possibly damaging |
Het |
| Myh13 |
A |
T |
11: 67,255,564 (GRCm39) |
K1645* |
probably null |
Het |
| Naip6 |
A |
G |
13: 100,431,239 (GRCm39) |
|
probably null |
Het |
| Nlrp1c-ps |
T |
C |
11: 71,171,382 (GRCm39) |
|
noncoding transcript |
Het |
| Nsmce3 |
A |
T |
7: 64,522,530 (GRCm39) |
L46Q |
probably benign |
Het |
| Or51aa2 |
A |
G |
7: 103,188,393 (GRCm39) |
V16A |
possibly damaging |
Het |
| Or6k6 |
T |
A |
1: 173,945,427 (GRCm39) |
M52L |
probably benign |
Het |
| Or8k37 |
T |
C |
2: 86,469,512 (GRCm39) |
D180G |
possibly damaging |
Het |
| P2ry12 |
T |
C |
3: 59,125,325 (GRCm39) |
|
probably null |
Het |
| Pcx |
T |
A |
19: 4,669,916 (GRCm39) |
V861E |
probably damaging |
Het |
| Pkp3 |
C |
T |
7: 140,662,612 (GRCm39) |
P75S |
probably benign |
Het |
| Plscr4 |
T |
C |
9: 92,364,920 (GRCm39) |
|
probably null |
Het |
| Pole |
A |
G |
5: 110,454,253 (GRCm39) |
T923A |
probably benign |
Het |
| Ptgir |
A |
G |
7: 16,640,794 (GRCm39) |
M29V |
possibly damaging |
Het |
| Rhot2 |
A |
C |
17: 26,060,305 (GRCm39) |
|
probably benign |
Het |
| Rsrp1 |
A |
G |
4: 134,651,488 (GRCm39) |
Y84C |
unknown |
Het |
| Sbf2 |
T |
C |
7: 109,934,606 (GRCm39) |
K1348E |
probably damaging |
Het |
| Sgip1 |
A |
T |
4: 102,726,951 (GRCm39) |
N53Y |
probably damaging |
Het |
| Snapc2 |
A |
G |
8: 4,304,998 (GRCm39) |
T127A |
possibly damaging |
Het |
| Snx8 |
A |
G |
5: 140,341,713 (GRCm39) |
|
probably null |
Het |
| Spag8 |
A |
G |
4: 43,653,378 (GRCm39) |
|
probably benign |
Het |
| Srebf2 |
T |
C |
15: 82,076,503 (GRCm39) |
F718L |
probably damaging |
Het |
| Szt2 |
C |
G |
4: 118,233,026 (GRCm39) |
|
probably benign |
Het |
| Traf3ip2 |
C |
T |
10: 39,515,256 (GRCm39) |
P345S |
possibly damaging |
Het |
| Usp29 |
T |
A |
7: 6,965,914 (GRCm39) |
S586T |
possibly damaging |
Het |
| Vasp |
T |
C |
7: 18,998,350 (GRCm39) |
N108S |
probably benign |
Het |
| Vmn1r214 |
A |
G |
13: 23,219,141 (GRCm39) |
M212V |
probably benign |
Het |
| Wipi2 |
G |
C |
5: 142,645,345 (GRCm39) |
A194P |
probably benign |
Het |
| Zbtb4 |
T |
A |
11: 69,667,355 (GRCm39) |
I220N |
probably damaging |
Het |
| Zcchc2 |
A |
T |
1: 105,917,996 (GRCm39) |
|
probably benign |
Het |
| Zfp729a |
T |
A |
13: 67,769,534 (GRCm39) |
K232* |
probably null |
Het |
| Zfp995 |
A |
T |
17: 22,106,320 (GRCm39) |
M1K |
probably null |
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 |
|
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'- GCATTTTAAGCTGCAAAGAACC -3'
(R):5'- GTTGTTACCCAAGAAAAGTCAGAG -3'
Sequencing Primer
(F):5'- GTGACTAGCAGGCATTAGCTTCC -3'
(R):5'- GAAAAGTCAGAGATCTTGCCTTCC -3'
|
| Posted On |
2015-10-08 |
Incidental Mutation