Incidental Mutation 'R7600:Tubgcp5'
ID |
587967 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tubgcp5
|
Ensembl Gene |
ENSMUSG00000033790 |
Gene Name |
tubulin, gamma complex component 5 |
Synonyms |
GCP5, B130010C12Rik |
MMRRC Submission |
045642-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.967)
|
Stock # |
R7600 (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 55458261 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 391
(T391A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000032627
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032627]
[ENSMUST00000205796]
[ENSMUST00000206191]
|
AlphaFold |
Q8BKN5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000032627
AA Change: T391A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000032627 Gene: ENSMUSG00000033790 AA Change: T391A
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: T391A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000206191
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
100% (45/45) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam25 |
G |
A |
8: 41,208,854 (GRCm39) |
V707I |
probably benign |
Het |
Ahnak |
A |
T |
19: 8,981,938 (GRCm39) |
D1074V |
possibly damaging |
Het |
Aldh4a1 |
A |
G |
4: 139,372,315 (GRCm39) |
M495V |
probably benign |
Het |
Atxn1 |
T |
G |
13: 45,710,536 (GRCm39) |
K799Q |
possibly damaging |
Het |
Catsperg2 |
A |
T |
7: 29,404,283 (GRCm39) |
S831T |
probably benign |
Het |
Cldn1 |
T |
C |
16: 26,179,669 (GRCm39) |
T133A |
probably benign |
Het |
Clec12b |
A |
G |
6: 129,353,226 (GRCm39) |
C254R |
probably damaging |
Het |
Cnnm2 |
A |
T |
19: 46,750,506 (GRCm39) |
T99S |
probably benign |
Het |
Col6a4 |
T |
G |
9: 105,944,198 (GRCm39) |
D1092A |
possibly damaging |
Het |
Dnajc9 |
A |
G |
14: 20,438,793 (GRCm39) |
L20P |
probably damaging |
Het |
Dsp |
C |
A |
13: 38,375,691 (GRCm39) |
Q1159K |
probably damaging |
Het |
Dst |
C |
T |
1: 34,306,011 (GRCm39) |
T4110I |
probably damaging |
Het |
Epb42 |
A |
G |
2: 120,852,307 (GRCm39) |
L562P |
probably damaging |
Het |
Fras1 |
T |
C |
5: 96,832,295 (GRCm39) |
Y1543H |
probably damaging |
Het |
Igkv1-117 |
T |
A |
6: 68,098,100 (GRCm39) |
V9E |
possibly damaging |
Het |
Kbtbd8 |
T |
A |
6: 95,099,573 (GRCm39) |
Y361N |
probably damaging |
Het |
Lrp1 |
C |
T |
10: 127,391,575 (GRCm39) |
R2948H |
probably benign |
Het |
Lrp10 |
G |
T |
14: 54,706,852 (GRCm39) |
R563L |
possibly damaging |
Het |
Mllt3 |
G |
T |
4: 87,759,456 (GRCm39) |
H197Q |
probably benign |
Het |
Myo18b |
G |
A |
5: 113,025,969 (GRCm39) |
P27L |
unknown |
Het |
Nlrp1a |
C |
A |
11: 70,989,740 (GRCm39) |
R1110L |
probably damaging |
Het |
Nol10 |
T |
G |
12: 17,419,481 (GRCm39) |
D257E |
probably damaging |
Het |
Olfm3 |
T |
C |
3: 114,890,589 (GRCm39) |
V114A |
possibly damaging |
Het |
Or2a57 |
C |
A |
6: 43,212,770 (GRCm39) |
T76K |
probably damaging |
Het |
Or2t43 |
T |
C |
11: 58,458,162 (GRCm39) |
N3S |
probably benign |
Het |
Pdzd2 |
G |
T |
15: 12,372,820 (GRCm39) |
D2438E |
probably damaging |
Het |
Prl7a2 |
T |
G |
13: 27,843,264 (GRCm39) |
I180L |
possibly damaging |
Het |
Ptch2 |
A |
T |
4: 116,953,422 (GRCm39) |
|
probably benign |
Het |
Snrpn |
A |
G |
7: 59,638,351 (GRCm39) |
M1T |
probably null |
Het |
Sntb1 |
A |
T |
15: 55,655,584 (GRCm39) |
W211R |
possibly damaging |
Het |
Sp110 |
G |
A |
1: 85,506,813 (GRCm39) |
R417C |
probably benign |
Het |
Sytl2 |
T |
C |
7: 90,025,352 (GRCm39) |
S447P |
probably benign |
Het |
Tas2r129 |
G |
T |
6: 132,928,137 (GRCm39) |
G25* |
probably null |
Het |
Tcstv7a |
A |
T |
13: 120,290,232 (GRCm39) |
|
probably null |
Het |
Tle2 |
T |
G |
10: 81,422,147 (GRCm39) |
Y396* |
probably null |
Het |
Trpm2 |
T |
C |
10: 77,773,885 (GRCm39) |
K510R |
probably benign |
Het |
Trpm3 |
A |
G |
19: 22,903,458 (GRCm39) |
T1073A |
possibly damaging |
Het |
Ttc24 |
A |
T |
3: 87,979,320 (GRCm39) |
M1K |
probably null |
Het |
Vmn1r17 |
T |
C |
6: 57,337,906 (GRCm39) |
E153G |
probably benign |
Het |
Vmn1r232 |
A |
T |
17: 21,133,999 (GRCm39) |
N200K |
possibly damaging |
Het |
Zcwpw1 |
A |
T |
5: 137,798,396 (GRCm39) |
K198* |
probably null |
Het |
Zfp142 |
A |
G |
1: 74,612,827 (GRCm39) |
V641A |
probably damaging |
Het |
Zfp318 |
C |
T |
17: 46,695,210 (GRCm39) |
A149V |
possibly damaging |
Het |
Zfp608 |
T |
C |
18: 55,121,092 (GRCm39) |
N165S |
probably damaging |
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 |
|
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'- TACATGAAGTTCAGTGCCCTTTG -3'
(R):5'- ACTGTTTGTTCAGAGGCTTCGC -3'
Sequencing Primer
(F):5'- ACTGCATGGTGGCTCATAAC -3'
(R):5'- GCTTCGCCAACATTGTCATATTCAAG -3'
|
Posted On |
2019-10-24 |