Incidental Mutation 'R6141:Tubgcp5'
ID |
488578 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tubgcp5
|
Ensembl Gene |
ENSMUSG00000033790 |
Gene Name |
tubulin, gamma complex component 5 |
Synonyms |
GCP5, B130010C12Rik |
MMRRC Submission |
044288-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.967)
|
Stock # |
R6141 (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 55456526 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 373
(I373V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000146111
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032627]
[ENSMUST00000205796]
[ENSMUST00000206191]
|
AlphaFold |
Q8BKN5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000032627
AA Change: I373V
PolyPhen 2
Score 0.296 (Sensitivity: 0.91; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000032627 Gene: ENSMUSG00000033790 AA Change: I373V
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 |
noncoding transcript
Transcript: ENSMUST00000205779
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000205796
AA Change: I373V
PolyPhen 2
Score 0.296 (Sensitivity: 0.91; Specificity: 0.89)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000206191
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206660
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206789
|
Meta Mutation Damage Score |
0.0641 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.2%
|
Validation Efficiency |
100% (51/51) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933421I07Rik |
A |
T |
7: 42,097,483 (GRCm39) |
C4S |
probably damaging |
Het |
Abhd5 |
A |
T |
9: 122,206,998 (GRCm39) |
T95S |
probably benign |
Het |
Ambra1 |
A |
T |
2: 91,706,099 (GRCm39) |
N795Y |
probably damaging |
Het |
Brca2 |
A |
G |
5: 150,464,102 (GRCm39) |
N1289D |
possibly damaging |
Het |
Cavin2 |
T |
C |
1: 51,340,097 (GRCm39) |
L258P |
probably damaging |
Het |
Ccdc110 |
A |
G |
8: 46,394,807 (GRCm39) |
T233A |
possibly damaging |
Het |
Ccdc14 |
T |
A |
16: 34,526,932 (GRCm39) |
I279N |
probably damaging |
Het |
Cntn5 |
A |
T |
9: 10,144,162 (GRCm39) |
L169Q |
probably benign |
Het |
Dbf4 |
T |
C |
5: 8,458,545 (GRCm39) |
S157G |
possibly damaging |
Het |
Defb22 |
A |
T |
2: 152,327,722 (GRCm39) |
N154K |
unknown |
Het |
Eepd1 |
T |
A |
9: 25,394,280 (GRCm39) |
D181E |
probably benign |
Het |
Etfa |
T |
C |
9: 55,372,103 (GRCm39) |
H286R |
probably damaging |
Het |
Gm44419 |
T |
A |
6: 65,127,940 (GRCm39) |
|
noncoding transcript |
Het |
Gpatch4 |
C |
T |
3: 87,962,047 (GRCm39) |
R155* |
probably null |
Het |
Grik1 |
T |
G |
16: 87,693,760 (GRCm39) |
R862S |
probably benign |
Het |
Hectd1 |
A |
C |
12: 51,792,875 (GRCm39) |
|
probably null |
Het |
Ift122 |
T |
C |
6: 115,892,972 (GRCm39) |
W919R |
probably damaging |
Het |
Iqgap2 |
A |
T |
13: 95,858,194 (GRCm39) |
|
probably null |
Het |
Kcnq4 |
A |
T |
4: 120,573,066 (GRCm39) |
I245N |
probably damaging |
Het |
Map3k3 |
G |
T |
11: 105,987,874 (GRCm39) |
R21L |
probably benign |
Het |
Mllt10 |
T |
C |
2: 18,215,604 (GRCm39) |
V1063A |
probably damaging |
Het |
Msr1 |
A |
T |
8: 40,084,360 (GRCm39) |
V65E |
probably damaging |
Het |
Myom2 |
A |
T |
8: 15,113,903 (GRCm39) |
D17V |
probably damaging |
Het |
Naaladl1 |
T |
A |
19: 6,159,785 (GRCm39) |
|
probably null |
Het |
Naip6 |
T |
C |
13: 100,444,741 (GRCm39) |
Y239C |
possibly damaging |
Het |
Nckap1 |
C |
A |
2: 80,360,551 (GRCm39) |
D533Y |
probably damaging |
Het |
Ndufs2 |
T |
C |
1: 171,064,185 (GRCm39) |
E375G |
probably damaging |
Het |
Nsd1 |
T |
C |
13: 55,439,097 (GRCm39) |
V1605A |
probably damaging |
Het |
Or4k42 |
A |
G |
2: 111,320,464 (GRCm39) |
I13T |
probably benign |
Het |
Or52ae9 |
C |
A |
7: 103,389,994 (GRCm39) |
R151L |
probably damaging |
Het |
Or5ac17 |
T |
A |
16: 59,036,916 (GRCm39) |
H20L |
probably benign |
Het |
Or5b114-ps1 |
A |
T |
19: 13,352,647 (GRCm39) |
Y107F |
probably benign |
Het |
Or7e176 |
T |
A |
9: 20,171,754 (GRCm39) |
M206K |
probably benign |
Het |
Pcp2 |
G |
A |
8: 3,673,543 (GRCm39) |
|
probably null |
Het |
Pdgfra |
A |
G |
5: 75,334,057 (GRCm39) |
S377G |
probably damaging |
Het |
Reep5 |
A |
T |
18: 34,505,511 (GRCm39) |
Y53* |
probably null |
Het |
Ric1 |
T |
C |
19: 29,572,842 (GRCm39) |
S761P |
probably damaging |
Het |
Satb1 |
T |
C |
17: 52,082,404 (GRCm39) |
T417A |
possibly damaging |
Het |
Slc1a7 |
T |
A |
4: 107,859,379 (GRCm39) |
M156K |
possibly damaging |
Het |
Slc4a10 |
A |
G |
2: 62,041,789 (GRCm39) |
E123G |
probably damaging |
Het |
Slc66a1 |
A |
G |
4: 139,027,556 (GRCm39) |
V262A |
probably benign |
Het |
Snupn |
C |
A |
9: 56,890,108 (GRCm39) |
Q310K |
possibly damaging |
Het |
Stard13 |
A |
T |
5: 150,965,707 (GRCm39) |
V916E |
probably damaging |
Het |
Tlr1 |
T |
C |
5: 65,082,556 (GRCm39) |
R674G |
possibly damaging |
Het |
Tnfsf11 |
A |
G |
14: 78,545,299 (GRCm39) |
Y11H |
probably damaging |
Het |
Tnr |
T |
A |
1: 159,714,692 (GRCm39) |
V857E |
probably benign |
Het |
Ush2a |
A |
T |
1: 188,090,160 (GRCm39) |
R414S |
possibly damaging |
Het |
Vmn2r100 |
T |
C |
17: 19,742,576 (GRCm39) |
S317P |
probably benign |
Het |
Wdr49 |
A |
T |
3: 75,230,989 (GRCm39) |
F558I |
probably benign |
Het |
Zfyve16 |
A |
G |
13: 92,648,105 (GRCm39) |
I983T |
probably benign |
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 |
|
R6289:Tubgcp5
|
UTSW |
7 |
55,445,671 (GRCm39) |
missense |
probably benign |
0.05 |
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'- CAAATAGCAGCGTATGGCCAG -3'
(R):5'- CTGTAAGCTCTTCAGTAATTTTGGG -3'
Sequencing Primer
(F):5'- CCAGGTTGTGTTTCGGCTCC -3'
(R):5'- GTCCTGCAGATTAAACTCAGGCTG -3'
|
Posted On |
2017-10-10 |