Incidental Mutation 'R9212:Tubgcp3'
| ID |
698947 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tubgcp3
|
| Ensembl Gene |
ENSMUSG00000000759 |
| Gene Name |
tubulin, gamma complex component 3 |
| Synonyms |
GCP3, Spc98p |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.967)
|
| Stock # |
R9212 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
12664277-12722141 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 12691200 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 446
(V446A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000000776
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000776]
[ENSMUST00000164774]
|
| AlphaFold |
P58854 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000000776
AA Change: V446A
PolyPhen 2
Score 0.669 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000000776
Gene: ENSMUSG00000000759
AA Change: V446A
| 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 |
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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (57/57) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aass |
T |
C |
6: 23,075,767 (GRCm39) |
D790G |
probably damaging |
Het |
| Abcb4 |
C |
T |
5: 9,005,591 (GRCm39) |
P1158L |
probably damaging |
Het |
| Actn3 |
T |
C |
19: 4,914,565 (GRCm39) |
D521G |
probably benign |
Het |
| Adhfe1 |
A |
T |
1: 9,637,036 (GRCm39) |
D396V |
possibly damaging |
Het |
| Arhgap28 |
A |
G |
17: 68,162,430 (GRCm39) |
M639T |
probably benign |
Het |
| Asb18 |
T |
C |
1: 89,880,447 (GRCm39) |
T453A |
probably benign |
Het |
| Asxl3 |
T |
C |
18: 22,655,389 (GRCm39) |
I1133T |
probably benign |
Het |
| C2cd4b |
G |
A |
9: 67,667,028 (GRCm39) |
R8H |
probably damaging |
Het |
| Ccdc91 |
A |
G |
6: 147,508,398 (GRCm39) |
I375V |
unknown |
Het |
| Cdh24 |
T |
A |
14: 54,878,679 (GRCm39) |
|
probably benign |
Het |
| Cfap57 |
T |
A |
4: 118,436,649 (GRCm39) |
I916F |
possibly damaging |
Het |
| Cfap65 |
G |
A |
1: 74,959,567 (GRCm39) |
T861I |
probably benign |
Het |
| Chd1 |
T |
G |
17: 15,950,767 (GRCm39) |
S153A |
possibly damaging |
Het |
| Cit |
A |
T |
5: 116,013,952 (GRCm39) |
I222F |
possibly damaging |
Het |
| Clip1 |
T |
A |
5: 123,721,399 (GRCm39) |
K1165N |
probably damaging |
Het |
| Cln6 |
A |
G |
9: 62,757,973 (GRCm39) |
H244R |
probably damaging |
Het |
| Col19a1 |
A |
T |
1: 24,500,555 (GRCm39) |
|
probably null |
Het |
| Dhx57 |
T |
G |
17: 80,576,338 (GRCm39) |
D584A |
probably damaging |
Het |
| Dnah14 |
G |
A |
1: 181,628,852 (GRCm39) |
V4123M |
possibly damaging |
Het |
| Fam193a |
T |
C |
5: 34,597,481 (GRCm39) |
V94A |
probably benign |
Het |
| Fzd6 |
A |
G |
15: 38,898,289 (GRCm39) |
H543R |
probably damaging |
Het |
| Gad2 |
T |
A |
2: 22,571,399 (GRCm39) |
C446S |
probably damaging |
Het |
| Gm29106 |
A |
G |
1: 118,127,270 (GRCm39) |
R321G |
probably damaging |
Het |
| Gon4l |
T |
C |
3: 88,803,730 (GRCm39) |
V1447A |
probably benign |
Het |
| Hus1b |
A |
C |
13: 31,130,858 (GRCm39) |
I267S |
possibly damaging |
Het |
| Kifap3 |
C |
T |
1: 163,610,600 (GRCm39) |
L27F |
probably damaging |
Het |
| Lancl2 |
A |
C |
6: 57,714,673 (GRCm39) |
I431L |
probably benign |
Het |
| Ltbp2 |
G |
A |
12: 84,839,824 (GRCm39) |
P1069S |
probably damaging |
Het |
| Mrgprb2 |
A |
T |
7: 48,202,392 (GRCm39) |
V111D |
possibly damaging |
Het |
| Mta3 |
A |
T |
17: 84,015,846 (GRCm39) |
N16I |
probably damaging |
Het |
| Npepps |
G |
T |
11: 97,129,047 (GRCm39) |
A379E |
probably damaging |
Het |
| Nppc |
G |
T |
1: 86,597,619 (GRCm39) |
Q50K |
possibly damaging |
Het |
| Or2a51 |
T |
A |
6: 43,178,756 (GRCm39) |
Y59* |
probably null |
Het |
| Or5p54 |
C |
A |
7: 107,554,017 (GRCm39) |
H56Q |
probably benign |
Het |
| Orc2 |
A |
G |
1: 58,515,695 (GRCm39) |
L271P |
probably damaging |
Het |
| Papolg |
T |
C |
11: 23,823,817 (GRCm39) |
T334A |
probably benign |
Het |
| Pikfyve |
T |
C |
1: 65,291,719 (GRCm39) |
S1313P |
probably damaging |
Het |
| Ppp2r3d |
T |
C |
9: 101,063,175 (GRCm39) |
T154A |
probably benign |
Het |
| Ptprz1 |
A |
G |
6: 23,050,493 (GRCm39) |
M2254V |
probably damaging |
Het |
| Rabgap1 |
T |
C |
2: 37,377,152 (GRCm39) |
V328A |
probably damaging |
Het |
| Rnf17 |
T |
C |
14: 56,761,785 (GRCm39) |
V1616A |
probably damaging |
Het |
| Rph3a |
T |
A |
5: 121,086,005 (GRCm39) |
H477L |
possibly damaging |
Het |
| Rttn |
T |
C |
18: 89,064,286 (GRCm39) |
|
probably null |
Het |
| Ryr2 |
A |
C |
13: 11,844,560 (GRCm39) |
I392S |
probably damaging |
Het |
| Sbsn |
A |
G |
7: 30,452,427 (GRCm39) |
N481D |
probably benign |
Het |
| Sf3a3 |
G |
A |
4: 124,621,921 (GRCm39) |
E354K |
possibly damaging |
Het |
| Slc15a2 |
A |
C |
16: 36,602,053 (GRCm39) |
Y81* |
probably null |
Het |
| Slc5a2 |
C |
A |
7: 127,867,939 (GRCm39) |
Q202K |
probably damaging |
Het |
| Spata31h1 |
T |
C |
10: 82,118,979 (GRCm39) |
N4677S |
possibly damaging |
Het |
| Stxbp2 |
G |
C |
8: 3,686,220 (GRCm39) |
K313N |
|
Het |
| Tbc1d2b |
A |
T |
9: 90,087,183 (GRCm39) |
L932Q |
possibly damaging |
Het |
| Trim24 |
A |
T |
6: 37,896,335 (GRCm39) |
Q264L |
probably benign |
Het |
| Unc93b1 |
G |
A |
19: 3,993,557 (GRCm39) |
R333Q |
probably damaging |
Het |
| Wdr24 |
T |
C |
17: 26,043,472 (GRCm39) |
V98A |
probably benign |
Het |
| Wdr62 |
G |
A |
7: 29,942,563 (GRCm39) |
S1015L |
probably damaging |
Het |
| Zfp280d |
A |
G |
9: 72,269,789 (GRCm39) |
*975W |
probably null |
Het |
| Zfp317 |
A |
T |
9: 19,558,442 (GRCm39) |
K219* |
probably null |
Het |
| Zfp974 |
A |
G |
7: 27,610,052 (GRCm39) |
S558P |
possibly damaging |
Het |
| Zfp986 |
A |
G |
4: 145,625,798 (GRCm39) |
K153E |
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 |
|
IGL02976:Tubgcp3
|
APN |
8 |
12,682,300 (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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGAAGGTCAGCTGGCACATC -3'
(R):5'- GCTCTTTGTGTCTGAAGAGCTTAC -3'
Sequencing Primer
(F):5'- TCAGCTGGCACATCGTCCAAG -3'
(R):5'- GAAACAGGGTTTCTCTGTTTGACCC -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation