Incidental Mutation 'R6289:Tubgcp5'
| ID |
508301 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tubgcp5
|
| Ensembl Gene |
ENSMUSG00000033790 |
| Gene Name |
tubulin, gamma complex component 5 |
| Synonyms |
GCP5, B130010C12Rik |
| MMRRC Submission |
044459-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.967)
|
| Stock # |
R6289 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
55443873-55481207 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 55445671 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 58
(S58G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146033
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032627]
[ENSMUST00000205796]
[ENSMUST00000206191]
[ENSMUST00000206454]
|
| AlphaFold |
Q8BKN5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000032627
AA Change: S58G
PolyPhen 2
Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000032627
Gene: ENSMUSG00000033790
AA Change: S58G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
109 |
124 |
N/A |
INTRINSIC |
|
Pfam:Spc97_Spc98
|
273 |
942 |
1.2e-126 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205796
AA Change: S58G
PolyPhen 2
Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206191
AA Change: S58G
PolyPhen 2
Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206454
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206789
|
| Meta Mutation Damage Score |
0.0625 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.8%
|
| Validation Efficiency |
100% (41/41) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam21 |
A |
G |
12: 81,607,480 (GRCm39) |
V94A |
probably damaging |
Het |
| Ankrd36 |
T |
C |
11: 5,578,837 (GRCm39) |
S34P |
probably damaging |
Het |
| Arid3c |
G |
A |
4: 41,724,285 (GRCm39) |
|
probably benign |
Het |
| Atg16l1 |
C |
T |
1: 87,683,937 (GRCm39) |
R6C |
probably damaging |
Het |
| Bex6 |
A |
G |
16: 32,005,530 (GRCm39) |
I113V |
probably benign |
Het |
| Blk |
T |
C |
14: 63,613,341 (GRCm39) |
|
probably null |
Het |
| C1s1 |
A |
G |
6: 124,508,135 (GRCm39) |
F618S |
probably damaging |
Het |
| Casp8ap2 |
C |
T |
4: 32,639,590 (GRCm39) |
H215Y |
probably damaging |
Het |
| Casp9 |
T |
A |
4: 141,534,496 (GRCm39) |
V302E |
probably damaging |
Het |
| Ccl2 |
A |
C |
11: 81,927,795 (GRCm39) |
K80Q |
probably benign |
Het |
| Cit |
T |
G |
5: 116,144,385 (GRCm39) |
*2014E |
probably null |
Het |
| Dclk2 |
A |
T |
3: 86,739,124 (GRCm39) |
S292T |
probably benign |
Het |
| Ddx23 |
T |
C |
15: 98,547,765 (GRCm39) |
E463G |
probably benign |
Het |
| Dennd1b |
T |
C |
1: 139,096,683 (GRCm39) |
|
probably benign |
Het |
| Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
| Fgf10 |
C |
A |
13: 118,852,028 (GRCm39) |
Q37K |
probably benign |
Het |
| Fgf22 |
A |
G |
10: 79,591,041 (GRCm39) |
D24G |
probably damaging |
Het |
| Gabra1 |
A |
G |
11: 42,045,846 (GRCm39) |
I88T |
probably damaging |
Het |
| Grip2 |
A |
G |
6: 91,755,852 (GRCm39) |
I586T |
probably benign |
Het |
| H1f5 |
G |
T |
13: 21,964,609 (GRCm39) |
P39Q |
probably damaging |
Het |
| Hpse2 |
T |
A |
19: 42,777,418 (GRCm39) |
N583Y |
probably null |
Het |
| Katnal2 |
A |
G |
18: 77,105,151 (GRCm39) |
|
probably null |
Het |
| Keg1 |
T |
G |
19: 12,691,937 (GRCm39) |
C85G |
probably damaging |
Het |
| Kidins220 |
T |
A |
12: 25,106,615 (GRCm39) |
L1356H |
probably damaging |
Het |
| Lifr |
A |
G |
15: 7,196,391 (GRCm39) |
K192E |
probably benign |
Het |
| Mks1 |
T |
C |
11: 87,750,485 (GRCm39) |
|
probably null |
Het |
| Or5b110-ps1 |
T |
C |
19: 13,260,158 (GRCm39) |
K88R |
possibly damaging |
Het |
| Rars1 |
C |
T |
11: 35,716,894 (GRCm39) |
M207I |
probably damaging |
Het |
| Rbm6 |
T |
C |
9: 107,655,147 (GRCm39) |
Y896C |
probably damaging |
Het |
| Scarf1 |
T |
A |
11: 75,416,242 (GRCm39) |
W472R |
possibly damaging |
Het |
| Septin8 |
A |
G |
11: 53,425,305 (GRCm39) |
N66S |
probably damaging |
Het |
| Smcr8 |
T |
C |
11: 60,669,424 (GRCm39) |
F191L |
probably damaging |
Het |
| Tdrd6 |
A |
G |
17: 43,935,411 (GRCm39) |
M1879T |
probably benign |
Het |
| Tlr3 |
C |
T |
8: 45,849,966 (GRCm39) |
R901Q |
probably benign |
Het |
| Trpc4ap |
T |
C |
2: 155,505,627 (GRCm39) |
T203A |
possibly damaging |
Het |
| Ubtd2 |
A |
G |
11: 32,466,177 (GRCm39) |
E132G |
probably damaging |
Het |
| Uggt2 |
T |
A |
14: 119,279,014 (GRCm39) |
E831V |
probably damaging |
Het |
| Umodl1 |
A |
G |
17: 31,201,325 (GRCm39) |
N418S |
probably benign |
Het |
| Vmn2r106 |
C |
T |
17: 20,488,725 (GRCm39) |
C558Y |
probably damaging |
Het |
| Wdhd1 |
A |
C |
14: 47,495,953 (GRCm39) |
I637S |
possibly damaging |
Het |
|
| Other mutations in Tubgcp5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00969:Tubgcp5
|
APN |
7 |
55,456,343 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL01291:Tubgcp5
|
APN |
7 |
55,458,277 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
IGL01343:Tubgcp5
|
APN |
7 |
55,445,779 (GRCm39) |
splice site |
probably benign |
|
|
IGL01597:Tubgcp5
|
APN |
7 |
55,456,580 (GRCm39) |
splice site |
probably benign |
|
|
IGL01688:Tubgcp5
|
APN |
7 |
55,464,766 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL01843:Tubgcp5
|
APN |
7 |
55,449,221 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL01950:Tubgcp5
|
APN |
7 |
55,455,836 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL01957:Tubgcp5
|
APN |
7 |
55,468,505 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02902:Tubgcp5
|
APN |
7 |
55,456,355 (GRCm39) |
nonsense |
probably null |
|
|
IGL03105:Tubgcp5
|
APN |
7 |
55,475,329 (GRCm39) |
missense |
probably damaging |
1.00 |
|
ANU05:Tubgcp5
|
UTSW |
7 |
55,458,277 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R0078:Tubgcp5
|
UTSW |
7 |
55,468,643 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0322:Tubgcp5
|
UTSW |
7 |
55,464,726 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0362:Tubgcp5
|
UTSW |
7 |
55,450,432 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0449:Tubgcp5
|
UTSW |
7 |
55,473,315 (GRCm39) |
missense |
probably benign |
|
|
R0488:Tubgcp5
|
UTSW |
7 |
55,479,086 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0853:Tubgcp5
|
UTSW |
7 |
55,464,599 (GRCm39) |
splice site |
probably benign |
|
|
R0885:Tubgcp5
|
UTSW |
7 |
55,455,803 (GRCm39) |
nonsense |
probably null |
|
|
R1483:Tubgcp5
|
UTSW |
7 |
55,475,455 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1746:Tubgcp5
|
UTSW |
7 |
55,458,285 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1766:Tubgcp5
|
UTSW |
7 |
55,464,768 (GRCm39) |
missense |
probably benign |
0.15 |
|
R2148:Tubgcp5
|
UTSW |
7 |
55,449,259 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2229:Tubgcp5
|
UTSW |
7 |
55,480,629 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3766:Tubgcp5
|
UTSW |
7 |
55,480,614 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4154:Tubgcp5
|
UTSW |
7 |
55,455,077 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4838:Tubgcp5
|
UTSW |
7 |
55,443,933 (GRCm39) |
unclassified |
probably benign |
|
|
R4948:Tubgcp5
|
UTSW |
7 |
55,455,871 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5110:Tubgcp5
|
UTSW |
7 |
55,458,385 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5347:Tubgcp5
|
UTSW |
7 |
55,473,433 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5417:Tubgcp5
|
UTSW |
7 |
55,475,409 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5574:Tubgcp5
|
UTSW |
7 |
55,455,077 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5758:Tubgcp5
|
UTSW |
7 |
55,468,643 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5957:Tubgcp5
|
UTSW |
7 |
55,464,710 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6014:Tubgcp5
|
UTSW |
7 |
55,473,357 (GRCm39) |
missense |
probably benign |
|
|
R6141:Tubgcp5
|
UTSW |
7 |
55,456,526 (GRCm39) |
missense |
probably benign |
0.30 |
|
R6511:Tubgcp5
|
UTSW |
7 |
55,467,140 (GRCm39) |
nonsense |
probably null |
|
|
R6563:Tubgcp5
|
UTSW |
7 |
55,475,409 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6574:Tubgcp5
|
UTSW |
7 |
55,473,331 (GRCm39) |
missense |
probably benign |
|
|
R6596:Tubgcp5
|
UTSW |
7 |
55,456,382 (GRCm39) |
missense |
probably benign |
0.38 |
|
R7016:Tubgcp5
|
UTSW |
7 |
55,443,977 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R7038:Tubgcp5
|
UTSW |
7 |
55,455,114 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7075:Tubgcp5
|
UTSW |
7 |
55,479,155 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7083:Tubgcp5
|
UTSW |
7 |
55,450,443 (GRCm39) |
nonsense |
probably null |
|
|
R7213:Tubgcp5
|
UTSW |
7 |
55,455,860 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7284:Tubgcp5
|
UTSW |
7 |
55,473,315 (GRCm39) |
missense |
probably benign |
|
|
R7600:Tubgcp5
|
UTSW |
7 |
55,458,261 (GRCm39) |
missense |
probably benign |
|
|
R7813:Tubgcp5
|
UTSW |
7 |
55,450,444 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R7920:Tubgcp5
|
UTSW |
7 |
55,466,310 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7948:Tubgcp5
|
UTSW |
7 |
55,443,996 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8438:Tubgcp5
|
UTSW |
7 |
55,454,363 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R8499:Tubgcp5
|
UTSW |
7 |
55,454,363 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R9087:Tubgcp5
|
UTSW |
7 |
55,467,106 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9211:Tubgcp5
|
UTSW |
7 |
55,456,331 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9269:Tubgcp5
|
UTSW |
7 |
55,445,693 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9329:Tubgcp5
|
UTSW |
7 |
55,479,181 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9355:Tubgcp5
|
UTSW |
7 |
55,467,177 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9498:Tubgcp5
|
UTSW |
7 |
55,463,233 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R9687:Tubgcp5
|
UTSW |
7 |
55,475,327 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
Z1088:Tubgcp5
|
UTSW |
7 |
55,464,849 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GTTATACTGAACATAACTGTGGGAC -3'
(R):5'- TCTGTGCTGGGAAGAGATGC -3'
Sequencing Primer
(F):5'- CTGTGGGACATATAAAAAGACAAAGG -3'
(R):5'- GAGAACGCATCAATGAATAC -3'
|
| Posted On |
2018-03-15 |
Incidental Mutation