Incidental Mutation 'R7948:Tubgcp5'
ID |
615972 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tubgcp5
|
Ensembl Gene |
ENSMUSG00000033790 |
Gene Name |
tubulin, gamma complex component 5 |
Synonyms |
GCP5, B130010C12Rik |
MMRRC Submission |
045993-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.967)
|
Stock # |
R7948 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
55443873-55481207 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 55443996 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 18
(D18E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000032627
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032627]
[ENSMUST00000205796]
[ENSMUST00000206191]
[ENSMUST00000206454]
|
AlphaFold |
Q8BKN5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000032627
AA Change: D18E
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000032627 Gene: ENSMUSG00000033790 AA Change: D18E
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: D18E
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000206191
AA Change: D18E
PolyPhen 2
Score 0.361 (Sensitivity: 0.90; Specificity: 0.89)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000206454
AA Change: D8E
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9930012K11Rik |
CGGTCTAGCTGAGCAGGAGGCAGCTCAGG |
CGG |
14: 70,394,815 (GRCm39) |
|
probably null |
Het |
Abca8a |
A |
T |
11: 109,941,805 (GRCm39) |
Y1155N |
probably benign |
Het |
Adcy8 |
C |
T |
15: 64,687,199 (GRCm39) |
R435K |
possibly damaging |
Het |
Adgrv1 |
C |
A |
13: 81,707,648 (GRCm39) |
V1253F |
probably damaging |
Het |
Adgrv1 |
T |
C |
13: 81,707,707 (GRCm39) |
D1233G |
probably damaging |
Het |
Baz2a |
G |
A |
10: 127,961,194 (GRCm39) |
R1639H |
possibly damaging |
Het |
Ccdc125 |
A |
G |
13: 100,832,910 (GRCm39) |
T496A |
probably benign |
Het |
Cntnap5a |
A |
G |
1: 116,508,258 (GRCm39) |
M1257V |
probably benign |
Het |
Cpne3 |
A |
G |
4: 19,528,186 (GRCm39) |
|
probably null |
Het |
Cts3 |
T |
C |
13: 61,713,863 (GRCm39) |
E288G |
probably benign |
Het |
Deup1 |
T |
C |
9: 15,521,944 (GRCm39) |
K74E |
possibly damaging |
Het |
Epn1 |
T |
A |
7: 5,092,992 (GRCm39) |
Y101* |
probably null |
Het |
Ercc4 |
A |
G |
16: 12,948,049 (GRCm39) |
D422G |
probably benign |
Het |
Exoc6 |
A |
C |
19: 37,565,422 (GRCm39) |
N166T |
probably benign |
Het |
Fam89a |
T |
C |
8: 125,478,409 (GRCm39) |
Y47C |
probably damaging |
Het |
Fbn1 |
C |
A |
2: 125,183,219 (GRCm39) |
Q1753H |
probably damaging |
Het |
Gal3st4 |
C |
T |
5: 138,269,262 (GRCm39) |
R66Q |
probably benign |
Het |
Gatad1 |
T |
C |
5: 3,693,540 (GRCm39) |
R210G |
probably benign |
Het |
Golm1 |
C |
A |
13: 59,812,011 (GRCm39) |
|
probably null |
Het |
Gtpbp3 |
A |
G |
8: 71,945,230 (GRCm39) |
H434R |
probably damaging |
Het |
Hbegf |
A |
G |
18: 36,639,752 (GRCm39) |
L194S |
possibly damaging |
Het |
Igsf10 |
A |
G |
3: 59,239,279 (GRCm39) |
S301P |
probably benign |
Het |
Il9r |
A |
C |
11: 32,144,486 (GRCm39) |
C106W |
probably damaging |
Het |
Lama5 |
T |
C |
2: 179,843,994 (GRCm39) |
D389G |
probably damaging |
Het |
Lyst |
T |
A |
13: 13,921,174 (GRCm39) |
D3373E |
possibly damaging |
Het |
Mkrn1 |
T |
A |
6: 39,377,344 (GRCm39) |
Y361F |
probably benign |
Het |
Mtrex |
C |
T |
13: 113,058,296 (GRCm39) |
R45Q |
probably benign |
Het |
Muc16 |
A |
T |
9: 18,553,786 (GRCm39) |
I4169N |
unknown |
Het |
Myo7a |
C |
T |
7: 97,724,236 (GRCm39) |
G1150S |
probably damaging |
Het |
Myom2 |
A |
G |
8: 15,135,306 (GRCm39) |
D503G |
probably benign |
Het |
Nmnat3 |
A |
G |
9: 98,281,535 (GRCm39) |
I46V |
probably benign |
Het |
Nrp2 |
C |
T |
1: 62,784,567 (GRCm39) |
R239C |
probably damaging |
Het |
Nrros |
A |
T |
16: 31,981,076 (GRCm39) |
N17K |
unknown |
Het |
Or51a39 |
C |
T |
7: 102,362,895 (GRCm39) |
V242I |
probably benign |
Het |
Patj |
A |
T |
4: 98,312,547 (GRCm39) |
K295M |
probably damaging |
Het |
Pax6 |
A |
G |
2: 105,516,222 (GRCm39) |
T167A |
probably benign |
Het |
Pclo |
T |
A |
5: 14,815,180 (GRCm39) |
L1212* |
probably null |
Het |
Peg3 |
T |
A |
7: 6,711,781 (GRCm39) |
Y1147F |
probably damaging |
Het |
Ppp2r5c |
T |
A |
12: 110,432,420 (GRCm39) |
N77K |
probably benign |
Het |
Prickle2 |
T |
C |
6: 92,393,903 (GRCm39) |
I257V |
possibly damaging |
Het |
Ptprc |
G |
A |
1: 137,992,314 (GRCm39) |
T1132I |
probably benign |
Het |
Serpinb6a |
G |
A |
13: 34,107,003 (GRCm39) |
S183L |
probably benign |
Het |
Slc6a15 |
T |
A |
10: 103,240,156 (GRCm39) |
M293K |
possibly damaging |
Het |
Tmem131 |
A |
T |
1: 36,833,229 (GRCm39) |
W1749R |
probably damaging |
Het |
Trpm8 |
T |
A |
1: 88,302,091 (GRCm39) |
Y1020* |
probably null |
Het |
Ttn |
G |
T |
2: 76,598,523 (GRCm39) |
Y19463* |
probably null |
Het |
Ubtd1 |
T |
A |
19: 42,022,174 (GRCm39) |
F149I |
probably benign |
Het |
Xirp2 |
A |
G |
2: 67,349,658 (GRCm39) |
K3279R |
possibly damaging |
Het |
Zfp236 |
T |
C |
18: 82,642,540 (GRCm39) |
T1117A |
probably damaging |
Het |
Zfp945 |
A |
T |
17: 23,071,096 (GRCm39) |
C289S |
unknown |
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 |
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'- TAGCTGTCTGAAGACTCTCGG -3'
(R):5'- AACTGCGGGTTTCTCGCAAG -3'
Sequencing Primer
(F):5'- ATTTCCCGGTGTGCAAGCAG -3'
(R):5'- GGTTTCTCGCAAGGGCAC -3'
|
Posted On |
2020-01-23 |