Incidental Mutation 'R7813:Tubgcp5'
ID |
601297 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tubgcp5
|
Ensembl Gene |
ENSMUSG00000033790 |
Gene Name |
tubulin, gamma complex component 5 |
Synonyms |
GCP5, B130010C12Rik |
MMRRC Submission |
045868-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.967)
|
Stock # |
R7813 (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 T
at 55450444 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Leucine
at position 185
(Q185L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000032627
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032627]
[ENSMUST00000205796]
[ENSMUST00000206191]
[ENSMUST00000206454]
|
AlphaFold |
Q8BKN5 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000032627
AA Change: Q185L
PolyPhen 2
Score 0.485 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000032627 Gene: ENSMUSG00000033790 AA Change: Q185L
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 |
possibly damaging
Transcript: ENSMUST00000205796
AA Change: Q185L
PolyPhen 2
Score 0.870 (Sensitivity: 0.83; Specificity: 0.93)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000206191
AA Change: Q185L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000206454
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
Validation Efficiency |
100% (60/60) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9330159F19Rik |
G |
A |
10: 29,100,896 (GRCm39) |
R423K |
probably benign |
Het |
Acot7 |
T |
C |
4: 152,307,575 (GRCm39) |
S170P |
probably damaging |
Het |
Arhgap40 |
A |
G |
2: 158,380,620 (GRCm39) |
Q341R |
probably benign |
Het |
Arhgef28 |
T |
C |
13: 98,082,189 (GRCm39) |
E1206G |
possibly damaging |
Het |
Arpp21 |
T |
A |
9: 112,008,133 (GRCm39) |
K122N |
probably damaging |
Het |
Arsi |
T |
C |
18: 61,049,726 (GRCm39) |
L203P |
possibly damaging |
Het |
C1rb |
A |
T |
6: 124,557,488 (GRCm39) |
I542F |
probably benign |
Het |
Cadm3 |
C |
A |
1: 173,171,956 (GRCm39) |
V206L |
probably benign |
Het |
Card11 |
T |
C |
5: 140,885,419 (GRCm39) |
D380G |
probably damaging |
Het |
Ccdc42 |
A |
T |
11: 68,488,534 (GRCm39) |
Q164L |
probably benign |
Het |
Ccnd1 |
A |
G |
7: 144,491,622 (GRCm39) |
|
probably null |
Het |
Cep120 |
T |
C |
18: 53,871,578 (GRCm39) |
D98G |
probably damaging |
Het |
Chrd |
A |
G |
16: 20,554,155 (GRCm39) |
T336A |
probably benign |
Het |
Clca3a2 |
C |
A |
3: 144,790,726 (GRCm39) |
A449S |
probably benign |
Het |
Dnah7a |
A |
G |
1: 53,657,245 (GRCm39) |
F844L |
probably benign |
Het |
Fbxo11 |
T |
A |
17: 88,308,245 (GRCm39) |
I480F |
|
Het |
Fcrl5 |
A |
G |
3: 87,350,930 (GRCm39) |
T147A |
probably benign |
Het |
Gm15130 |
T |
A |
2: 110,969,320 (GRCm39) |
I133F |
|
Het |
Gpr155 |
C |
T |
2: 73,212,329 (GRCm39) |
W98* |
probably null |
Het |
Hspa4 |
A |
G |
11: 53,162,863 (GRCm39) |
S408P |
probably damaging |
Het |
Il12rb2 |
G |
A |
6: 67,333,635 (GRCm39) |
R215C |
possibly damaging |
Het |
Itga5 |
T |
A |
15: 103,265,741 (GRCm39) |
|
probably null |
Het |
Kcnip3 |
T |
A |
2: 127,323,703 (GRCm39) |
|
probably null |
Het |
Krt12 |
A |
G |
11: 99,309,309 (GRCm39) |
|
probably null |
Het |
Marchf3 |
A |
T |
18: 56,916,163 (GRCm39) |
S177R |
probably benign |
Het |
Minpp1 |
T |
G |
19: 32,468,803 (GRCm39) |
F229V |
probably damaging |
Het |
Muc2 |
G |
A |
7: 141,282,543 (GRCm39) |
|
probably null |
Het |
Myh10 |
A |
G |
11: 68,676,735 (GRCm39) |
T906A |
probably benign |
Het |
Myh13 |
A |
G |
11: 67,218,056 (GRCm39) |
D43G |
probably benign |
Het |
Nacad |
C |
T |
11: 6,549,071 (GRCm39) |
D1327N |
probably benign |
Het |
Nbeal1 |
A |
T |
1: 60,331,048 (GRCm39) |
Y2219F |
probably damaging |
Het |
Nckap5 |
A |
G |
1: 125,953,163 (GRCm39) |
S1130P |
probably benign |
Het |
Pfkfb3 |
T |
C |
2: 11,486,719 (GRCm39) |
N415S |
probably benign |
Het |
Plxdc2 |
A |
G |
2: 16,665,678 (GRCm39) |
I293V |
possibly damaging |
Het |
Prpf38a |
A |
T |
4: 108,436,277 (GRCm39) |
I12N |
probably damaging |
Het |
Ptprt |
C |
T |
2: 161,372,413 (GRCm39) |
V1420M |
probably damaging |
Het |
Qars1 |
A |
G |
9: 108,386,670 (GRCm39) |
D161G |
probably damaging |
Het |
Scaf8 |
T |
A |
17: 3,247,549 (GRCm39) |
D957E |
probably damaging |
Het |
Scn7a |
T |
C |
2: 66,506,689 (GRCm39) |
Y1400C |
probably damaging |
Het |
Sis |
T |
C |
3: 72,832,801 (GRCm39) |
I999V |
probably benign |
Het |
Sorcs2 |
A |
T |
5: 36,181,958 (GRCm39) |
L1054H |
probably damaging |
Het |
Sptbn1 |
C |
T |
11: 30,088,455 (GRCm39) |
A906T |
probably damaging |
Het |
Srd5a2 |
A |
G |
17: 74,331,541 (GRCm39) |
F152S |
probably benign |
Het |
Stkld1 |
T |
A |
2: 26,835,888 (GRCm39) |
L241* |
probably null |
Het |
Strip2 |
A |
T |
6: 29,923,912 (GRCm39) |
|
probably null |
Het |
Tcaf1 |
A |
C |
6: 42,650,363 (GRCm39) |
Y905* |
probably null |
Het |
Tet2 |
T |
C |
3: 133,179,404 (GRCm39) |
I1254V |
probably benign |
Het |
Tiam2 |
A |
T |
17: 3,487,522 (GRCm39) |
N681I |
probably damaging |
Het |
Trappc6a |
A |
G |
7: 19,248,124 (GRCm39) |
|
probably null |
Het |
Trav12-2 |
A |
T |
14: 53,854,223 (GRCm39) |
K66* |
probably null |
Het |
Ttn |
T |
A |
2: 76,597,841 (GRCm39) |
I19691F |
probably damaging |
Het |
Vmn1r44 |
A |
T |
6: 89,869,192 (GRCm39) |
|
probably benign |
Het |
Vps13a |
T |
C |
19: 16,628,820 (GRCm39) |
D2717G |
possibly damaging |
Het |
Vps13d |
A |
T |
4: 144,904,633 (GRCm39) |
Y133* |
probably null |
Het |
Zer1 |
T |
C |
2: 30,000,385 (GRCm39) |
D265G |
probably damaging |
Het |
Zfp710 |
A |
G |
7: 79,730,859 (GRCm39) |
D12G |
possibly damaging |
Het |
Zfp819 |
T |
C |
7: 43,266,191 (GRCm39) |
S225P |
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 |
|
R6141:Tubgcp5
|
UTSW |
7 |
55,456,526 (GRCm39) |
missense |
probably benign |
0.30 |
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 |
|
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'- AAGGCGGCTTTTGCTTCTC -3'
(R):5'- GCTCTCAACCTGTGGGTAAC -3'
Sequencing Primer
(F):5'- GGCTTTTGCTTCTCTTCAGAAATG -3'
(R):5'- CACTGTACTGGAAATGTCAGAGCTC -3'
|
Posted On |
2019-11-26 |