Incidental Mutation 'R8499:Tubgcp5'
ID |
658417 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tubgcp5
|
Ensembl Gene |
ENSMUSG00000033790 |
Gene Name |
tubulin, gamma complex component 5 |
Synonyms |
GCP5, B130010C12Rik |
MMRRC Submission |
067941-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.967)
|
Stock # |
R8499 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
55443873-55481207 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 55454363 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Glutamine
at position 219
(H219Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000032627
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032627]
[ENSMUST00000205796]
[ENSMUST00000206191]
|
AlphaFold |
Q8BKN5 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000032627
AA Change: H219Q
PolyPhen 2
Score 0.669 (Sensitivity: 0.86; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000032627 Gene: ENSMUSG00000033790 AA Change: H219Q
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: H219Q
PolyPhen 2
Score 0.499 (Sensitivity: 0.88; Specificity: 0.90)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000206191
AA Change: M197K
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
Validation Efficiency |
100% (49/49) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam25 |
A |
G |
8: 41,208,189 (GRCm39) |
D485G |
probably damaging |
Het |
Ap4b1 |
G |
A |
3: 103,728,018 (GRCm39) |
R344Q |
probably damaging |
Het |
Apol7c |
G |
T |
15: 77,410,280 (GRCm39) |
P222Q |
possibly damaging |
Het |
Atf6b |
T |
C |
17: 34,869,796 (GRCm39) |
L272P |
probably damaging |
Het |
Atp11b |
G |
T |
3: 35,864,854 (GRCm39) |
R559I |
probably benign |
Het |
Bhmt |
T |
A |
13: 93,756,600 (GRCm39) |
I343F |
probably benign |
Het |
Btbd7 |
A |
T |
12: 102,754,631 (GRCm39) |
F712I |
probably damaging |
Het |
Card14 |
T |
C |
11: 119,222,070 (GRCm39) |
L455P |
probably benign |
Het |
Cast |
A |
T |
13: 74,946,835 (GRCm39) |
H26Q |
probably benign |
Het |
Clcn1 |
A |
G |
6: 42,284,133 (GRCm39) |
N567S |
probably damaging |
Het |
Cnot6l |
A |
T |
5: 96,225,176 (GRCm39) |
W506R |
probably damaging |
Het |
Dynap |
T |
A |
18: 70,374,044 (GRCm39) |
I161L |
unknown |
Het |
Eif4g3 |
A |
C |
4: 137,893,239 (GRCm39) |
T996P |
probably damaging |
Het |
Exoc8 |
A |
G |
8: 125,623,849 (GRCm39) |
Y173H |
probably benign |
Het |
Fbll1 |
C |
T |
11: 35,688,907 (GRCm39) |
V119M |
probably damaging |
Het |
Fbxw22 |
A |
T |
9: 109,214,068 (GRCm39) |
F249L |
probably benign |
Het |
Fxyd1 |
C |
A |
7: 30,752,529 (GRCm39) |
|
probably benign |
Het |
Grhl3 |
C |
A |
4: 135,276,549 (GRCm39) |
|
probably null |
Het |
Grk4 |
A |
G |
5: 34,902,690 (GRCm39) |
E414G |
possibly damaging |
Het |
H2bc8 |
T |
A |
13: 23,755,880 (GRCm39) |
S92T |
probably benign |
Het |
H2-Q5 |
A |
G |
17: 35,613,820 (GRCm39) |
D123G |
|
Het |
H2-Q5 |
C |
T |
17: 35,613,945 (GRCm39) |
R165* |
probably null |
Het |
Hgf |
A |
T |
5: 16,771,854 (GRCm39) |
E160D |
probably damaging |
Het |
Ifi211 |
T |
C |
1: 173,733,086 (GRCm39) |
I192V |
probably benign |
Het |
Klk1b22 |
T |
C |
7: 43,762,144 (GRCm39) |
F7L |
probably benign |
Het |
Lcmt1 |
C |
A |
7: 123,029,371 (GRCm39) |
T331N |
probably benign |
Het |
Lrrc36 |
A |
T |
8: 106,176,168 (GRCm39) |
T181S |
possibly damaging |
Het |
Ltbp3 |
T |
A |
19: 5,798,712 (GRCm39) |
S520T |
probably benign |
Het |
Nacc1 |
A |
T |
8: 85,403,345 (GRCm39) |
C177S |
probably damaging |
Het |
Nedd4l |
T |
A |
18: 65,342,728 (GRCm39) |
V888E |
probably damaging |
Het |
Oc90 |
C |
T |
15: 65,753,405 (GRCm39) |
G305S |
probably damaging |
Het |
Or51a25 |
A |
G |
7: 102,372,932 (GRCm39) |
V255A |
probably damaging |
Het |
Or52i2 |
T |
A |
7: 102,320,012 (GRCm39) |
I295N |
probably damaging |
Het |
Pappa2 |
T |
A |
1: 158,764,092 (GRCm39) |
D473V |
probably damaging |
Het |
Pou2f2 |
C |
A |
7: 24,799,623 (GRCm39) |
G117C |
probably damaging |
Het |
Prkci |
A |
G |
3: 31,079,366 (GRCm39) |
H68R |
probably damaging |
Het |
Pygm |
A |
G |
19: 6,440,392 (GRCm39) |
K479E |
probably damaging |
Het |
Qpct |
A |
G |
17: 79,384,996 (GRCm39) |
D212G |
probably damaging |
Het |
Sh3glb2 |
A |
T |
2: 30,249,216 (GRCm39) |
M1K |
probably null |
Het |
Slc22a5 |
A |
G |
11: 53,758,469 (GRCm39) |
S444P |
probably damaging |
Het |
Snai3 |
G |
A |
8: 123,183,144 (GRCm39) |
H134Y |
probably benign |
Het |
Synpo |
T |
C |
18: 60,736,044 (GRCm39) |
D395G |
probably damaging |
Het |
Tmem63c |
C |
T |
12: 87,119,738 (GRCm39) |
T344I |
probably damaging |
Het |
Tnfsf14 |
A |
G |
17: 57,497,534 (GRCm39) |
Y233H |
|
Het |
Ttn |
A |
G |
2: 76,749,335 (GRCm39) |
F3905L |
probably benign |
Het |
Usp16 |
C |
T |
16: 87,271,536 (GRCm39) |
T364M |
possibly damaging |
Het |
Vmn1r59 |
C |
T |
7: 5,457,750 (GRCm39) |
M3I |
probably benign |
Het |
Vmn2r61 |
T |
A |
7: 41,949,700 (GRCm39) |
C707S |
probably damaging |
Het |
Vps13b |
T |
C |
15: 35,841,466 (GRCm39) |
S2499P |
probably damaging |
Het |
Ythdf3 |
A |
G |
3: 16,259,179 (GRCm39) |
E442G |
possibly damaging |
Het |
Zfp1001 |
T |
C |
2: 150,204,907 (GRCm39) |
S74P |
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 |
|
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 |
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'- AGACTACACTGTGGCCATGG -3'
(R):5'- CACCATGATGTTATGTGCACTC -3'
Sequencing Primer
(F):5'- GGAGAGCCCTCATAGACAGAGTTTC -3'
(R):5'- TTGCATACATTCCACTACACTTG -3'
|
Posted On |
2021-01-18 |