Incidental Mutation 'IGL02976:Tubgcp3'
| ID |
406363 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tubgcp3
|
| Ensembl Gene |
ENSMUSG00000000759 |
| Gene Name |
tubulin, gamma complex component 3 |
| Synonyms |
GCP3, Spc98p |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.967)
|
| Stock # |
IGL02976
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
12664277-12722141 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 12682300 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 673
(Y673C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000000776
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000776]
[ENSMUST00000164774]
|
| AlphaFold |
P58854 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000000776
AA Change: Y673C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000000776
Gene: ENSMUSG00000000759
AA Change: Y673C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
152 |
171 |
N/A |
INTRINSIC |
|
Pfam:Spc97_Spc98
|
251 |
761 |
9.5e-124 |
PFAM |
|
coiled coil region
|
787 |
814 |
N/A |
INTRINSIC |
|
low complexity region
|
821 |
827 |
N/A |
INTRINSIC |
|
low complexity region
|
890 |
903 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000164611
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164774
|
| SMART Domains |
Protein: ENSMUSP00000127741
Gene: ENSMUSG00000000759
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
152 |
171 |
N/A |
INTRINSIC |
|
Pfam:Spc97_Spc98
|
251 |
361 |
3.5e-16 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000164971
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000167547
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000168657
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9630041A04Rik |
A |
G |
9: 101,816,845 (GRCm39) |
T84A |
possibly damaging |
Het |
| Adgrd1 |
T |
A |
5: 129,208,661 (GRCm39) |
S288T |
probably benign |
Het |
| Ano7 |
T |
A |
1: 93,330,395 (GRCm39) |
D806E |
possibly damaging |
Het |
| Arl6 |
A |
G |
16: 59,444,259 (GRCm39) |
L79P |
probably damaging |
Het |
| Card6 |
A |
T |
15: 5,129,310 (GRCm39) |
C695* |
probably null |
Het |
| Carmil1 |
T |
C |
13: 24,276,534 (GRCm39) |
N610S |
possibly damaging |
Het |
| Cdc40 |
A |
G |
10: 40,758,917 (GRCm39) |
V52A |
probably benign |
Het |
| Chd4 |
G |
A |
6: 125,098,331 (GRCm39) |
R369H |
probably damaging |
Het |
| Clasp2 |
C |
T |
9: 113,735,204 (GRCm39) |
P1031L |
probably damaging |
Het |
| Cldn34d |
C |
T |
X: 75,626,690 (GRCm39) |
A121T |
probably benign |
Het |
| Clmp |
A |
C |
9: 40,692,520 (GRCm39) |
Y263S |
possibly damaging |
Het |
| Cntn5 |
A |
G |
9: 10,419,104 (GRCm39) |
|
probably benign |
Het |
| Folh1 |
A |
T |
7: 86,412,126 (GRCm39) |
M215K |
probably benign |
Het |
| Fut1 |
C |
T |
7: 45,268,744 (GRCm39) |
R233C |
probably damaging |
Het |
| Gcdh |
A |
C |
8: 85,615,207 (GRCm39) |
Y398D |
probably damaging |
Het |
| Gm26741 |
T |
G |
10: 52,234,910 (GRCm39) |
S16R |
possibly damaging |
Het |
| Jph3 |
T |
A |
8: 122,479,823 (GRCm39) |
L167Q |
probably damaging |
Het |
| Jup |
A |
G |
11: 100,269,192 (GRCm39) |
V407A |
probably benign |
Het |
| Kif17 |
C |
T |
4: 137,996,374 (GRCm39) |
A117V |
probably damaging |
Het |
| Lyl1 |
C |
T |
8: 85,429,300 (GRCm39) |
P3L |
possibly damaging |
Het |
| Magi2 |
C |
T |
5: 20,739,473 (GRCm39) |
P349S |
probably damaging |
Het |
| Mlycd |
T |
C |
8: 120,128,224 (GRCm39) |
M177T |
possibly damaging |
Het |
| Mocos |
A |
G |
18: 24,799,626 (GRCm39) |
K287E |
possibly damaging |
Het |
| Morc2b |
T |
A |
17: 33,356,497 (GRCm39) |
H425L |
possibly damaging |
Het |
| Mrpl9 |
T |
A |
3: 94,355,084 (GRCm39) |
|
probably benign |
Het |
| Myo3a |
G |
A |
2: 22,434,494 (GRCm39) |
W825* |
probably null |
Het |
| Npas2 |
T |
C |
1: 39,326,565 (GRCm39) |
S17P |
probably damaging |
Het |
| Nrk |
A |
G |
X: 137,892,817 (GRCm39) |
I1174V |
probably benign |
Het |
| Or1e32 |
A |
G |
11: 73,705,143 (GRCm39) |
I255T |
probably damaging |
Het |
| Or4d11 |
A |
T |
19: 12,013,337 (GRCm39) |
Y256* |
probably null |
Het |
| Or4k2 |
G |
A |
14: 50,423,889 (GRCm39) |
Q262* |
probably null |
Het |
| Parpbp |
A |
G |
10: 87,947,456 (GRCm39) |
|
probably null |
Het |
| Pcdh10 |
T |
C |
3: 45,334,448 (GRCm39) |
V254A |
possibly damaging |
Het |
| Plod1 |
C |
T |
4: 147,997,778 (GRCm39) |
V644I |
probably damaging |
Het |
| Ptpn1 |
T |
C |
2: 167,813,704 (GRCm39) |
V149A |
probably benign |
Het |
| Rassf4 |
T |
C |
6: 116,615,209 (GRCm39) |
E320G |
probably damaging |
Het |
| Rgl2 |
T |
A |
17: 34,152,936 (GRCm39) |
D448E |
possibly damaging |
Het |
| Rnf32 |
C |
T |
5: 29,411,710 (GRCm39) |
|
probably null |
Het |
| Rpa1 |
T |
A |
11: 75,203,628 (GRCm39) |
D358V |
probably damaging |
Het |
| Sdk2 |
T |
C |
11: 113,742,668 (GRCm39) |
N747S |
probably damaging |
Het |
| Slc17a4 |
A |
C |
13: 24,089,407 (GRCm39) |
M170R |
probably damaging |
Het |
| Slc5a4a |
G |
A |
10: 76,006,527 (GRCm39) |
V310M |
possibly damaging |
Het |
| Spag9 |
G |
A |
11: 93,974,779 (GRCm39) |
R463H |
probably benign |
Het |
| Spmip5 |
A |
T |
19: 58,777,552 (GRCm39) |
V78E |
probably benign |
Het |
| Stxbp2 |
A |
T |
8: 3,691,971 (GRCm39) |
I538F |
probably benign |
Het |
| Syt10 |
A |
G |
15: 89,698,682 (GRCm39) |
S221P |
probably benign |
Het |
| Tlk1 |
T |
A |
2: 70,551,935 (GRCm39) |
K579* |
probably null |
Het |
| Vmn1r223 |
T |
C |
13: 23,434,165 (GRCm39) |
F253S |
probably damaging |
Het |
| Vmn2r83 |
T |
C |
10: 79,304,832 (GRCm39) |
M14T |
probably benign |
Het |
| Zfp59 |
A |
G |
7: 27,552,821 (GRCm39) |
D91G |
probably benign |
Het |
|
| Other mutations in Tubgcp3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00424:Tubgcp3
|
APN |
8 |
12,671,809 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL00583:Tubgcp3
|
APN |
8 |
12,671,906 (GRCm39) |
nonsense |
probably null |
|
|
IGL01289:Tubgcp3
|
APN |
8 |
12,689,625 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01578:Tubgcp3
|
APN |
8 |
12,711,297 (GRCm39) |
splice site |
probably benign |
|
|
IGL01716:Tubgcp3
|
APN |
8 |
12,691,094 (GRCm39) |
splice site |
probably benign |
|
|
IGL01943:Tubgcp3
|
APN |
8 |
12,704,301 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02020:Tubgcp3
|
APN |
8 |
12,687,780 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
IGL02345:Tubgcp3
|
APN |
8 |
12,675,056 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02555:Tubgcp3
|
APN |
8 |
12,689,595 (GRCm39) |
missense |
probably benign |
0.36 |
|
IGL02644:Tubgcp3
|
APN |
8 |
12,698,733 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03240:Tubgcp3
|
APN |
8 |
12,699,797 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL03287:Tubgcp3
|
APN |
8 |
12,689,630 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
Tinky_winky
|
UTSW |
8 |
12,700,171 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0145:Tubgcp3
|
UTSW |
8 |
12,707,561 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0379:Tubgcp3
|
UTSW |
8 |
12,691,116 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0558:Tubgcp3
|
UTSW |
8 |
12,703,462 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1490:Tubgcp3
|
UTSW |
8 |
12,689,550 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1709:Tubgcp3
|
UTSW |
8 |
12,689,532 (GRCm39) |
nonsense |
probably null |
|
|
R1768:Tubgcp3
|
UTSW |
8 |
12,699,686 (GRCm39) |
unclassified |
probably benign |
|
|
R1921:Tubgcp3
|
UTSW |
8 |
12,671,932 (GRCm39) |
nonsense |
probably null |
|
|
R1928:Tubgcp3
|
UTSW |
8 |
12,713,988 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R2161:Tubgcp3
|
UTSW |
8 |
12,682,292 (GRCm39) |
missense |
probably benign |
0.22 |
|
R3120:Tubgcp3
|
UTSW |
8 |
12,707,626 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R3434:Tubgcp3
|
UTSW |
8 |
12,708,381 (GRCm39) |
splice site |
probably null |
|
|
R4011:Tubgcp3
|
UTSW |
8 |
12,689,634 (GRCm39) |
nonsense |
probably null |
|
|
R4162:Tubgcp3
|
UTSW |
8 |
12,689,547 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R4300:Tubgcp3
|
UTSW |
8 |
12,707,600 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4350:Tubgcp3
|
UTSW |
8 |
12,691,117 (GRCm39) |
missense |
probably benign |
0.19 |
|
R4529:Tubgcp3
|
UTSW |
8 |
12,713,932 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4530:Tubgcp3
|
UTSW |
8 |
12,713,932 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4531:Tubgcp3
|
UTSW |
8 |
12,713,932 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4676:Tubgcp3
|
UTSW |
8 |
12,700,171 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4730:Tubgcp3
|
UTSW |
8 |
12,707,654 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4828:Tubgcp3
|
UTSW |
8 |
12,721,987 (GRCm39) |
missense |
probably benign |
|
|
R4860:Tubgcp3
|
UTSW |
8 |
12,699,722 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4860:Tubgcp3
|
UTSW |
8 |
12,699,722 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5610:Tubgcp3
|
UTSW |
8 |
12,689,577 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5625:Tubgcp3
|
UTSW |
8 |
12,674,888 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R5650:Tubgcp3
|
UTSW |
8 |
12,698,670 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5775:Tubgcp3
|
UTSW |
8 |
12,675,056 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6257:Tubgcp3
|
UTSW |
8 |
12,699,835 (GRCm39) |
splice site |
probably null |
|
|
R6314:Tubgcp3
|
UTSW |
8 |
12,698,625 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6970:Tubgcp3
|
UTSW |
8 |
12,687,000 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7173:Tubgcp3
|
UTSW |
8 |
12,689,259 (GRCm39) |
splice site |
probably null |
|
|
R7408:Tubgcp3
|
UTSW |
8 |
12,711,359 (GRCm39) |
nonsense |
probably null |
|
|
R7502:Tubgcp3
|
UTSW |
8 |
12,691,207 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7701:Tubgcp3
|
UTSW |
8 |
12,705,974 (GRCm39) |
missense |
probably benign |
|
|
R7739:Tubgcp3
|
UTSW |
8 |
12,707,561 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8169:Tubgcp3
|
UTSW |
8 |
12,666,099 (GRCm39) |
missense |
probably benign |
|
|
R8327:Tubgcp3
|
UTSW |
8 |
12,704,343 (GRCm39) |
missense |
probably benign |
0.11 |
|
R8723:Tubgcp3
|
UTSW |
8 |
12,671,899 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9212:Tubgcp3
|
UTSW |
8 |
12,691,200 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R9393:Tubgcp3
|
UTSW |
8 |
12,703,411 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9413:Tubgcp3
|
UTSW |
8 |
12,674,885 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9650:Tubgcp3
|
UTSW |
8 |
12,705,974 (GRCm39) |
missense |
probably benign |
|
|
R9739:Tubgcp3
|
UTSW |
8 |
12,699,744 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9748:Tubgcp3
|
UTSW |
8 |
12,699,758 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation