Incidental Mutation 'R7075:Tubgcp5'
ID |
549158 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tubgcp5
|
Ensembl Gene |
ENSMUSG00000033790 |
Gene Name |
tubulin, gamma complex component 5 |
Synonyms |
GCP5, B130010C12Rik |
MMRRC Submission |
045170-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.967)
|
Stock # |
R7075 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
55443873-55481207 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 55479155 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Leucine
at position 1002
(V1002L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000032627
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032627]
[ENSMUST00000205796]
[ENSMUST00000206133]
[ENSMUST00000206191]
|
AlphaFold |
Q8BKN5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000032627
AA Change: V1002L
PolyPhen 2
Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000032627 Gene: ENSMUSG00000033790 AA Change: V1002L
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: V939L
PolyPhen 2
Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000206133
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000206191
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
Validation Efficiency |
95% (60/63) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acyp1 |
A |
T |
12: 85,325,782 (GRCm39) |
H72Q |
unknown |
Het |
Afmid |
T |
A |
11: 117,726,531 (GRCm39) |
D218E |
probably benign |
Het |
Ankhd1 |
T |
C |
18: 36,693,042 (GRCm39) |
V1A |
|
Het |
Atf7ip |
T |
C |
6: 136,573,513 (GRCm39) |
|
probably null |
Het |
BC024139 |
C |
T |
15: 76,008,599 (GRCm39) |
V326I |
probably benign |
Het |
Bfsp1 |
T |
A |
2: 143,690,885 (GRCm39) |
Q159L |
probably damaging |
Het |
Cct2 |
A |
T |
10: 116,897,370 (GRCm39) |
W125R |
unknown |
Het |
Cnksr3 |
G |
T |
10: 7,102,931 (GRCm39) |
T147K |
probably benign |
Het |
Colq |
C |
G |
14: 31,274,866 (GRCm39) |
G101R |
probably damaging |
Het |
Dlg5 |
G |
T |
14: 24,227,865 (GRCm39) |
T352K |
possibly damaging |
Het |
Dusp9 |
TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG |
TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG |
X: 72,684,217 (GRCm39) |
|
probably benign |
Het |
Ebna1bp2 |
T |
C |
4: 118,479,299 (GRCm39) |
V119A |
probably benign |
Het |
Eif2ak4 |
C |
T |
2: 118,251,291 (GRCm39) |
Q318* |
probably null |
Het |
Eif2b1 |
G |
A |
5: 124,709,314 (GRCm39) |
T286M |
probably damaging |
Het |
Fam53b |
G |
T |
7: 132,361,352 (GRCm39) |
D225E |
probably damaging |
Het |
Fh1 |
A |
G |
1: 175,435,421 (GRCm39) |
I354T |
probably benign |
Het |
Fnbp1 |
T |
C |
2: 30,948,926 (GRCm39) |
H206R |
probably benign |
Het |
Gabrg3 |
A |
T |
7: 56,973,444 (GRCm39) |
D74E |
probably damaging |
Het |
Galnt18 |
A |
T |
7: 111,155,595 (GRCm39) |
V246E |
possibly damaging |
Het |
Glt6d1 |
T |
C |
2: 25,685,292 (GRCm39) |
R44G |
probably benign |
Het |
Gm17087 |
T |
C |
17: 8,785,635 (GRCm39) |
M23V |
probably benign |
Het |
Gpr160 |
A |
T |
3: 30,950,926 (GRCm39) |
I333L |
possibly damaging |
Het |
Hars1 |
T |
C |
18: 36,905,408 (GRCm39) |
N142S |
possibly damaging |
Het |
Hmgcll1 |
T |
C |
9: 75,963,834 (GRCm39) |
V97A |
possibly damaging |
Het |
Itih4 |
T |
G |
14: 30,614,560 (GRCm39) |
V474G |
probably damaging |
Het |
Itprid2 |
T |
A |
2: 79,466,004 (GRCm39) |
S41T |
probably damaging |
Het |
Keap1 |
C |
T |
9: 21,142,552 (GRCm39) |
V568I |
probably benign |
Het |
Kifc5b |
A |
G |
17: 27,144,872 (GRCm39) |
M633V |
probably benign |
Het |
Lsm4 |
A |
G |
8: 71,130,435 (GRCm39) |
E18G |
probably damaging |
Het |
Meox1 |
T |
A |
11: 101,784,569 (GRCm39) |
Q88L |
probably damaging |
Het |
Mettl25 |
T |
C |
10: 105,665,785 (GRCm39) |
N147S |
possibly damaging |
Het |
Mphosph9 |
A |
C |
5: 124,458,922 (GRCm39) |
W83G |
probably damaging |
Het |
Or1j15 |
T |
C |
2: 36,459,192 (GRCm39) |
I194T |
probably benign |
Het |
Or5ak22 |
T |
C |
2: 85,230,544 (GRCm39) |
D111G |
probably damaging |
Het |
Or7e170 |
T |
A |
9: 19,795,359 (GRCm39) |
M81L |
probably benign |
Het |
Or8b4 |
T |
C |
9: 37,830,370 (GRCm39) |
V139A |
probably benign |
Het |
Or8h8 |
T |
G |
2: 86,752,990 (GRCm39) |
K295N |
possibly damaging |
Het |
Or9g4 |
T |
A |
2: 85,505,168 (GRCm39) |
Y109F |
|
Het |
Otogl |
G |
T |
10: 107,614,790 (GRCm39) |
T1954K |
probably benign |
Het |
Padi2 |
T |
C |
4: 140,660,528 (GRCm39) |
V336A |
probably damaging |
Het |
Phf21a |
C |
T |
2: 92,190,724 (GRCm39) |
Q675* |
probably null |
Het |
Ppip5k1 |
T |
C |
2: 121,152,231 (GRCm39) |
E1092G |
probably damaging |
Het |
Psg21 |
T |
C |
7: 18,388,786 (GRCm39) |
N102S |
probably damaging |
Het |
Ralgapa1 |
C |
A |
12: 55,867,508 (GRCm39) |
Q15H |
possibly damaging |
Het |
Rbm26 |
A |
T |
14: 105,398,043 (GRCm39) |
D26E |
unknown |
Het |
Rbp4 |
T |
C |
19: 38,112,509 (GRCm39) |
Y152C |
probably damaging |
Het |
Recql4 |
A |
G |
15: 76,590,624 (GRCm39) |
V646A |
possibly damaging |
Het |
Rnf220 |
A |
T |
4: 117,143,079 (GRCm39) |
M63K |
probably benign |
Het |
Selenok |
T |
C |
14: 29,692,024 (GRCm39) |
S21P |
probably damaging |
Het |
Senp1 |
A |
G |
15: 97,956,207 (GRCm39) |
V404A |
probably benign |
Het |
Sh3yl1 |
A |
G |
12: 30,990,165 (GRCm39) |
|
probably null |
Het |
Snx32 |
A |
G |
19: 5,547,018 (GRCm39) |
L275P |
probably damaging |
Het |
Stat5a |
T |
C |
11: 100,770,519 (GRCm39) |
V519A |
possibly damaging |
Het |
Tbc1d10b |
A |
T |
7: 126,802,410 (GRCm39) |
V388E |
possibly damaging |
Het |
Tdrd6 |
A |
G |
17: 43,936,065 (GRCm39) |
V1661A |
probably benign |
Het |
Tmem63a |
T |
A |
1: 180,788,714 (GRCm39) |
F350L |
probably damaging |
Het |
Trio |
A |
T |
15: 27,898,086 (GRCm39) |
I401K |
unknown |
Het |
Ttn |
T |
C |
2: 76,547,173 (GRCm39) |
E32291G |
probably damaging |
Het |
Vav3 |
C |
T |
3: 109,433,240 (GRCm39) |
T410I |
possibly damaging |
Het |
Vmn1r1 |
A |
T |
1: 181,985,597 (GRCm39) |
F23I |
probably benign |
Het |
Vmn2r84 |
T |
A |
10: 130,226,941 (GRCm39) |
Q299L |
probably damaging |
Het |
Vmn2r85 |
T |
A |
10: 130,258,557 (GRCm39) |
E499D |
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 |
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'- AGTTCTAGCCAATATGAGACTCTGTC -3'
(R):5'- TTCTGCCGAACCAATTCAAATC -3'
Sequencing Primer
(F):5'- AAGCACTGTTTCCTAGTTTATGATC -3'
(R):5'- TCATCACTAAGTATTTCCCAGTTTTG -3'
|
Posted On |
2019-05-15 |