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 |