Incidental Mutation 'R5347:Tubgcp5'
ID |
422672 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tubgcp5
|
Ensembl Gene |
ENSMUSG00000033790 |
Gene Name |
tubulin, gamma complex component 5 |
Synonyms |
GCP5, B130010C12Rik |
MMRRC Submission |
042926-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.967)
|
Stock # |
R5347 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
55443873-55481207 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 55473433 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 837
(Y837C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000146111
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032627]
[ENSMUST00000205796]
[ENSMUST00000206133]
[ENSMUST00000206191]
|
AlphaFold |
Q8BKN5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000032627
AA Change: Y900C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000032627 Gene: ENSMUSG00000033790 AA Change: Y900C
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 |
noncoding transcript
Transcript: ENSMUST00000205311
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205718
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000205796
AA Change: Y837C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000206133
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000206191
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206789
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.0%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acvr2a |
A |
G |
2: 48,782,166 (GRCm39) |
Y233C |
probably damaging |
Het |
Agl |
A |
G |
3: 116,584,814 (GRCm39) |
S169P |
probably damaging |
Het |
Arid1b |
C |
T |
17: 5,341,332 (GRCm39) |
Q879* |
probably null |
Het |
Bbs2 |
A |
G |
8: 94,819,178 (GRCm39) |
S64P |
probably damaging |
Het |
Bend7 |
G |
A |
2: 4,768,052 (GRCm39) |
R336Q |
probably damaging |
Het |
Cacna2d2 |
A |
G |
9: 107,391,313 (GRCm39) |
T447A |
probably benign |
Het |
Ccdc168 |
T |
A |
1: 44,096,955 (GRCm39) |
Y1381F |
probably benign |
Het |
Ccdc169 |
A |
T |
3: 55,049,740 (GRCm39) |
|
probably benign |
Het |
Cdan1 |
A |
G |
2: 120,560,546 (GRCm39) |
S275P |
possibly damaging |
Het |
Cdh15 |
A |
G |
8: 123,588,802 (GRCm39) |
N292S |
probably null |
Het |
Cmtm1 |
CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT |
CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT |
8: 105,036,102 (GRCm39) |
|
probably benign |
Het |
Cnnm1 |
A |
G |
19: 43,430,301 (GRCm39) |
H473R |
probably benign |
Het |
Cplx4 |
G |
A |
18: 66,103,157 (GRCm39) |
|
probably benign |
Het |
Crb1 |
C |
T |
1: 139,265,109 (GRCm39) |
G103E |
probably damaging |
Het |
Dnaja3 |
T |
A |
16: 4,512,346 (GRCm39) |
V250E |
possibly damaging |
Het |
Dync2h1 |
T |
G |
9: 7,129,727 (GRCm39) |
Q1757P |
probably damaging |
Het |
Edem3 |
A |
G |
1: 151,683,202 (GRCm39) |
Q626R |
probably damaging |
Het |
Eif2b1 |
T |
C |
5: 124,716,862 (GRCm39) |
|
probably benign |
Het |
Esf1 |
T |
A |
2: 139,996,801 (GRCm39) |
K521* |
probably null |
Het |
Fbxl3 |
A |
C |
14: 103,320,730 (GRCm39) |
V239G |
probably damaging |
Het |
Fhip2a |
A |
G |
19: 57,367,051 (GRCm39) |
D198G |
probably benign |
Het |
Fto |
A |
G |
8: 92,118,107 (GRCm39) |
|
probably benign |
Het |
Gm5773 |
T |
C |
3: 93,681,090 (GRCm39) |
L254P |
probably damaging |
Het |
Gm5916 |
A |
T |
9: 36,032,012 (GRCm39) |
W91R |
probably benign |
Het |
Gpam |
A |
T |
19: 55,077,269 (GRCm39) |
L174H |
probably damaging |
Het |
Grk1 |
G |
A |
8: 13,464,478 (GRCm39) |
R450Q |
probably damaging |
Het |
Hc |
G |
A |
2: 34,927,636 (GRCm39) |
A326V |
probably benign |
Het |
Hectd4 |
T |
C |
5: 121,442,511 (GRCm39) |
I1317T |
probably benign |
Het |
Hlcs |
A |
G |
16: 94,068,383 (GRCm39) |
V426A |
possibly damaging |
Het |
Ighv1-23 |
T |
C |
12: 114,728,376 (GRCm39) |
|
probably benign |
Het |
Itgax |
G |
A |
7: 127,740,474 (GRCm39) |
V754I |
probably benign |
Het |
Krt24 |
T |
A |
11: 99,173,556 (GRCm39) |
D255V |
probably damaging |
Het |
Lnpk |
T |
C |
2: 74,403,935 (GRCm39) |
|
probably benign |
Het |
Loxhd1 |
G |
T |
18: 77,454,237 (GRCm39) |
R478L |
probably damaging |
Het |
Lrrc56 |
A |
G |
7: 140,789,537 (GRCm39) |
Q518R |
probably benign |
Het |
Mbl1 |
A |
T |
14: 40,880,786 (GRCm39) |
I225F |
probably damaging |
Het |
Mmp21 |
T |
C |
7: 133,277,651 (GRCm39) |
S392G |
probably benign |
Het |
Mug2 |
T |
G |
6: 122,058,551 (GRCm39) |
F1318V |
probably damaging |
Het |
Myo5c |
A |
G |
9: 75,202,487 (GRCm39) |
N1447S |
probably null |
Het |
Nbea |
A |
C |
3: 55,948,297 (GRCm39) |
V543G |
probably damaging |
Het |
Necap1 |
A |
G |
6: 122,857,706 (GRCm39) |
I96V |
probably benign |
Het |
Nr3c2 |
T |
A |
8: 77,937,377 (GRCm39) |
M872K |
possibly damaging |
Het |
Nrf1 |
C |
T |
6: 30,118,967 (GRCm39) |
T362M |
probably benign |
Het |
Or14j2 |
T |
C |
17: 37,885,618 (GRCm39) |
E232G |
probably damaging |
Het |
Pcare |
A |
G |
17: 72,056,930 (GRCm39) |
S916P |
probably benign |
Het |
Plekhm3 |
T |
C |
1: 64,859,149 (GRCm39) |
E685G |
probably damaging |
Het |
Robo4 |
CGG |
CG |
9: 37,322,786 (GRCm39) |
|
probably null |
Het |
Sbk3 |
A |
T |
7: 4,970,422 (GRCm39) |
S316T |
probably benign |
Het |
Serpinb9e |
T |
C |
13: 33,441,767 (GRCm39) |
L233P |
probably damaging |
Het |
Set |
T |
A |
2: 29,959,422 (GRCm39) |
S132T |
possibly damaging |
Het |
Slc17a4 |
C |
T |
13: 24,092,800 (GRCm39) |
E11K |
possibly damaging |
Het |
Slc22a6 |
T |
A |
19: 8,595,917 (GRCm39) |
N86K |
possibly damaging |
Het |
Slco1a6 |
A |
G |
6: 142,032,325 (GRCm39) |
L600P |
probably damaging |
Het |
Sp8 |
A |
G |
12: 118,812,246 (GRCm39) |
K34E |
possibly damaging |
Het |
Spen |
T |
A |
4: 141,198,796 (GRCm39) |
E3254V |
probably benign |
Het |
Tcf12 |
G |
A |
9: 71,792,525 (GRCm39) |
P53S |
probably damaging |
Het |
Tcf3 |
A |
G |
10: 80,246,045 (GRCm39) |
V626A |
probably damaging |
Het |
Trpc4ap |
A |
G |
2: 155,514,908 (GRCm39) |
|
probably null |
Het |
Ttc3 |
T |
A |
16: 94,230,479 (GRCm39) |
V892D |
probably damaging |
Het |
Tub |
G |
T |
7: 108,625,978 (GRCm39) |
R243L |
possibly damaging |
Het |
Utp25 |
A |
T |
1: 192,810,687 (GRCm39) |
D105E |
probably benign |
Het |
Wdhd1 |
A |
T |
14: 47,506,181 (GRCm39) |
Y244* |
probably null |
Het |
Xdh |
T |
A |
17: 74,232,027 (GRCm39) |
T228S |
probably benign |
Het |
Zfp418 |
A |
C |
7: 7,185,534 (GRCm39) |
Q499P |
probably benign |
Het |
Zfpm1 |
G |
A |
8: 123,062,269 (GRCm39) |
E443K |
possibly damaging |
Het |
Zfy1 |
T |
C |
Y: 725,950 (GRCm39) |
H605R |
possibly 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 |
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 |
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'- AGAACTGGGTAATGCTGCTG -3'
(R):5'- GTCTCTGGACACAATGCTGTTTG -3'
Sequencing Primer
(F):5'- GTAATGCTGCTGAAAGATCCC -3'
(R):5'- CCTGTTGTGATTCTACCAGAGAGAC -3'
|
Posted On |
2016-08-04 |