Incidental Mutation 'R2249:Tubgcp4'
ID |
240761 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tubgcp4
|
Ensembl Gene |
ENSMUSG00000027263 |
Gene Name |
tubulin, gamma complex component 4 |
Synonyms |
4932441P04Rik, D2Ertd435e |
MMRRC Submission |
040249-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R2249 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
121001135-121029251 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 121014110 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Valine
at position 221
(D221V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000044049
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039541]
[ENSMUST00000110657]
[ENSMUST00000110658]
[ENSMUST00000186659]
|
AlphaFold |
Q9D4F8 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000039541
AA Change: D221V
PolyPhen 2
Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000044049 Gene: ENSMUSG00000027263 AA Change: D221V
Domain | Start | End | E-Value | Type |
Pfam:Spc97_Spc98
|
4 |
573 |
2.8e-111 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000110657
AA Change: D221V
PolyPhen 2
Score 0.617 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000106285 Gene: ENSMUSG00000027263 AA Change: D221V
Domain | Start | End | E-Value | Type |
Pfam:Spc97_Spc98
|
4 |
572 |
3.1e-115 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000110658
AA Change: D221V
PolyPhen 2
Score 0.209 (Sensitivity: 0.92; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000106286 Gene: ENSMUSG00000027263 AA Change: D221V
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 |
probably benign
Transcript: ENSMUST00000186659
AA Change: D221V
PolyPhen 2
Score 0.209 (Sensitivity: 0.92; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000140417 Gene: ENSMUSG00000027263 AA Change: D221V
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: ENSMUST00000143305
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143320
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154633
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144123
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
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: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acvr1b |
G |
A |
15: 101,100,975 (GRCm39) |
R379Q |
probably null |
Het |
Adam23 |
C |
T |
1: 63,574,335 (GRCm39) |
Q276* |
probably null |
Het |
Apob |
A |
T |
12: 8,057,499 (GRCm39) |
S1961C |
probably damaging |
Het |
Atxn7l1 |
C |
T |
12: 33,408,839 (GRCm39) |
P334S |
probably damaging |
Het |
Ccnb1 |
T |
C |
13: 100,917,827 (GRCm39) |
M258V |
possibly damaging |
Het |
Cd34 |
A |
C |
1: 194,630,260 (GRCm39) |
T65P |
possibly damaging |
Het |
Cog6 |
A |
G |
3: 52,907,900 (GRCm39) |
|
probably null |
Het |
Cp |
T |
C |
3: 20,041,734 (GRCm39) |
M953T |
probably damaging |
Het |
Cwc27 |
C |
T |
13: 104,768,130 (GRCm39) |
R455Q |
unknown |
Het |
Dhx57 |
A |
T |
17: 80,588,663 (GRCm39) |
D63E |
probably damaging |
Het |
Elapor1 |
A |
T |
3: 108,378,726 (GRCm39) |
Y409* |
probably null |
Het |
Flt4 |
T |
A |
11: 49,536,786 (GRCm39) |
M1252K |
possibly damaging |
Het |
Gfral |
C |
T |
9: 76,100,631 (GRCm39) |
C269Y |
probably damaging |
Het |
Itih4 |
C |
T |
14: 30,621,351 (GRCm39) |
Q788* |
probably null |
Het |
Kif18b |
A |
G |
11: 102,803,214 (GRCm39) |
S499P |
probably benign |
Het |
Map1a |
G |
C |
2: 121,130,768 (GRCm39) |
R528P |
probably damaging |
Het |
Map3k5 |
T |
C |
10: 20,003,443 (GRCm39) |
F1152L |
probably damaging |
Het |
Marveld2 |
T |
C |
13: 100,748,599 (GRCm39) |
D160G |
probably benign |
Het |
Mtcl2 |
A |
T |
2: 156,882,013 (GRCm39) |
C680S |
probably benign |
Het |
Mug1 |
A |
T |
6: 121,847,469 (GRCm39) |
M616L |
probably benign |
Het |
Ndst4 |
A |
T |
3: 125,231,823 (GRCm39) |
I131F |
probably benign |
Het |
Neto1 |
G |
T |
18: 86,479,399 (GRCm39) |
A196S |
probably benign |
Het |
Notum |
A |
G |
11: 120,545,237 (GRCm39) |
F441L |
probably benign |
Het |
Nsmce4a |
A |
G |
7: 130,140,769 (GRCm39) |
I239T |
probably benign |
Het |
Or51g1 |
A |
T |
7: 102,633,647 (GRCm39) |
N241K |
possibly damaging |
Het |
Or52z14 |
T |
A |
7: 103,252,943 (GRCm39) |
D27E |
probably benign |
Het |
Or5d35 |
A |
T |
2: 87,855,707 (GRCm39) |
I214F |
probably damaging |
Het |
Or6s1 |
T |
A |
14: 51,307,870 (GRCm39) |
K327* |
probably null |
Het |
Or6x1 |
A |
T |
9: 40,098,980 (GRCm39) |
T190S |
possibly damaging |
Het |
Or8k40 |
A |
G |
2: 86,584,398 (GRCm39) |
M228T |
probably damaging |
Het |
Pde4dip |
A |
T |
3: 97,700,841 (GRCm39) |
V221D |
probably damaging |
Het |
Pkp1 |
T |
C |
1: 135,808,545 (GRCm39) |
Y474C |
probably damaging |
Het |
Ptk6 |
A |
C |
2: 180,838,173 (GRCm39) |
H363Q |
probably benign |
Het |
Rb1cc1 |
T |
C |
1: 6,342,948 (GRCm39) |
W187R |
probably damaging |
Het |
Rbfox3 |
A |
T |
11: 118,394,564 (GRCm39) |
F132L |
probably damaging |
Het |
Rcl1 |
A |
T |
19: 29,099,268 (GRCm39) |
I188F |
possibly damaging |
Het |
Scfd1 |
T |
A |
12: 51,462,299 (GRCm39) |
S385T |
possibly damaging |
Het |
Sema6d |
A |
G |
2: 124,501,508 (GRCm39) |
E483G |
possibly damaging |
Het |
Semp2l2b |
T |
C |
10: 21,943,015 (GRCm39) |
I322V |
possibly damaging |
Het |
Sipa1l1 |
T |
C |
12: 82,388,890 (GRCm39) |
V372A |
probably benign |
Het |
Slc17a6 |
G |
A |
7: 51,317,654 (GRCm39) |
G429D |
probably damaging |
Het |
Slc22a5 |
A |
G |
11: 53,774,532 (GRCm39) |
V151A |
possibly damaging |
Het |
Spidr |
T |
C |
16: 15,936,787 (GRCm39) |
D106G |
probably damaging |
Het |
Tekt3 |
A |
T |
11: 62,974,778 (GRCm39) |
T366S |
probably benign |
Het |
Trpm3 |
T |
C |
19: 22,710,398 (GRCm39) |
M281T |
probably benign |
Het |
Ttn |
A |
G |
2: 76,782,485 (GRCm39) |
V917A |
probably damaging |
Het |
Ubr4 |
C |
T |
4: 139,176,232 (GRCm39) |
R3153W |
probably damaging |
Het |
Vmn1r89 |
A |
C |
7: 12,954,187 (GRCm39) |
T308P |
possibly damaging |
Het |
Vmn2r59 |
A |
G |
7: 41,708,326 (GRCm39) |
I27T |
probably benign |
Het |
Vps13c |
T |
G |
9: 67,895,335 (GRCm39) |
|
probably null |
Het |
Zfp142 |
A |
G |
1: 74,606,191 (GRCm39) |
V1793A |
probably damaging |
Het |
Zfp472 |
T |
A |
17: 33,197,109 (GRCm39) |
C395S |
possibly 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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- ACCTCTGGCTATGGTGAGTC -3'
(R):5'- AAAGCCCAGTGTGTCTAACTGATC -3'
Sequencing Primer
(F):5'- GGTGAGTCTCAGGATTCTAAATAGAC -3'
(R):5'- AGTGTGTCTAACTGATCCACTCATG -3'
|
Posted On |
2014-10-15 |