Incidental Mutation 'R4300:Tubgcp3'
| ID |
322376 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tubgcp3
|
| Ensembl Gene |
ENSMUSG00000000759 |
| Gene Name |
tubulin, gamma complex component 3 |
| Synonyms |
GCP3, Spc98p |
| MMRRC Submission |
041657-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.967)
|
| Stock # |
R4300 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
12664277-12722141 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 12707600 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Threonine
at position 130
(P130T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127741
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000776]
[ENSMUST00000164774]
|
| AlphaFold |
P58854 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000000776
AA Change: P130T
PolyPhen 2
Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000000776
Gene: ENSMUSG00000000759
AA Change: P130T
| 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 damaging
Transcript: ENSMUST00000164774
AA Change: P130T
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000127741
Gene: ENSMUSG00000000759
AA Change: P130T
| 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: ENSMUST00000164861
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000164971
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000165321
AA Change: P12T
PolyPhen 2
Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000131051
Gene: ENSMUSG00000000759
AA Change: P12T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
35 |
54 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000167547
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172056
|
| Meta Mutation Damage Score |
0.1823 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
| Validation Efficiency |
100% (40/40) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930503B20Rik |
T |
A |
3: 146,356,675 (GRCm39) |
R78* |
probably null |
Het |
| A2m |
G |
A |
6: 121,650,434 (GRCm39) |
V1181I |
probably benign |
Het |
| Cacna1b |
T |
C |
2: 24,525,251 (GRCm39) |
S1639G |
probably damaging |
Het |
| Ccs |
T |
C |
19: 4,884,285 (GRCm39) |
T56A |
probably benign |
Het |
| Cd177 |
T |
C |
7: 24,449,845 (GRCm39) |
I547V |
possibly damaging |
Het |
| Ckmt2 |
C |
A |
13: 92,011,457 (GRCm39) |
|
probably null |
Het |
| Cyth1 |
A |
G |
11: 118,074,720 (GRCm39) |
F180L |
probably damaging |
Het |
| Dip2c |
A |
G |
13: 9,660,747 (GRCm39) |
I840M |
probably damaging |
Het |
| Gm37150 |
G |
A |
9: 72,292,758 (GRCm39) |
|
noncoding transcript |
Het |
| Herc1 |
A |
G |
9: 66,396,688 (GRCm39) |
D4255G |
probably damaging |
Het |
| Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
| Kcnn4 |
G |
T |
7: 24,077,029 (GRCm39) |
V193L |
probably benign |
Het |
| Lrrc8d |
G |
A |
5: 105,961,606 (GRCm39) |
R672Q |
probably damaging |
Het |
| Mboat2 |
A |
G |
12: 25,009,082 (GRCm39) |
N463D |
probably benign |
Het |
| Mtfr1 |
T |
A |
3: 19,269,621 (GRCm39) |
|
probably null |
Het |
| Or10g6 |
A |
C |
9: 39,934,435 (GRCm39) |
I249L |
probably benign |
Het |
| Or5h24 |
T |
C |
16: 58,918,641 (GRCm39) |
Y238C |
unknown |
Het |
| Pcnt |
G |
C |
10: 76,203,225 (GRCm39) |
R2626G |
probably benign |
Het |
| Pik3cg |
A |
G |
12: 32,226,671 (GRCm39) |
I1072T |
probably damaging |
Het |
| Prc1 |
G |
A |
7: 79,960,964 (GRCm39) |
|
probably benign |
Het |
| Psph |
G |
T |
5: 129,864,529 (GRCm39) |
|
probably null |
Het |
| Rfx4 |
T |
C |
10: 84,740,966 (GRCm39) |
Y601H |
probably damaging |
Het |
| Rmc1 |
A |
G |
18: 12,321,919 (GRCm39) |
N513D |
probably benign |
Het |
| Setd5 |
T |
G |
6: 113,127,123 (GRCm39) |
V1249G |
probably damaging |
Het |
| Sirpb1b |
A |
T |
3: 15,613,821 (GRCm39) |
I87K |
probably damaging |
Het |
| Slc14a2 |
G |
A |
18: 78,250,283 (GRCm39) |
R62C |
probably damaging |
Het |
| Spata31 |
A |
T |
13: 65,067,575 (GRCm39) |
H79L |
probably benign |
Het |
| Srbd1 |
C |
A |
17: 86,292,632 (GRCm39) |
R979L |
probably damaging |
Het |
| Stox2 |
A |
T |
8: 47,647,027 (GRCm39) |
Y208* |
probably null |
Het |
| Sun1 |
A |
T |
5: 139,213,349 (GRCm39) |
|
probably benign |
Het |
| Tfap4 |
T |
C |
16: 4,369,224 (GRCm39) |
D132G |
probably damaging |
Het |
| Top2b |
T |
G |
14: 16,409,189 (GRCm38) |
I777M |
probably damaging |
Het |
| Txlnb |
A |
G |
10: 17,703,673 (GRCm39) |
E277G |
probably damaging |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTGTGAGCTCAAGTTACCCG -3'
(R):5'- TGCCTGATACTGTCAATTACGAAGG -3'
Sequencing Primer
(F):5'- GCTCAAGTTACCCGGGAAG -3'
(R):5'- CTGTCAATTACGAAGGTTCAGAAAC -3'
|
| Posted On |
2015-06-20 |
Incidental Mutation