Incidental Mutation 'R7083:Tubgcp5'
ID |
549677 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tubgcp5
|
Ensembl Gene |
ENSMUSG00000033790 |
Gene Name |
tubulin, gamma complex component 5 |
Synonyms |
GCP5, B130010C12Rik |
MMRRC Submission |
045177-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.967)
|
Stock # |
R7083 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
55443873-55481207 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
C to T
at 55450443 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Stop codon
at position 185
(Q185*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000032627
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032627]
[ENSMUST00000205796]
[ENSMUST00000206191]
[ENSMUST00000206454]
|
AlphaFold |
Q8BKN5 |
Predicted Effect |
probably null
Transcript: ENSMUST00000032627
AA Change: Q185*
|
SMART Domains |
Protein: ENSMUSP00000032627 Gene: ENSMUSG00000033790 AA Change: Q185*
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 null
Transcript: ENSMUST00000205796
AA Change: Q185*
|
Predicted Effect |
probably null
Transcript: ENSMUST00000206191
AA Change: Q185*
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000206454
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam21 |
A |
T |
12: 81,607,015 (GRCm39) |
M249K |
possibly damaging |
Het |
Arhgef38 |
T |
A |
3: 132,838,197 (GRCm39) |
Q613L |
unknown |
Het |
Arpp21 |
A |
G |
9: 112,012,612 (GRCm39) |
V70A |
probably benign |
Het |
AW551984 |
T |
C |
9: 39,508,943 (GRCm39) |
N327S |
probably damaging |
Het |
Bnc1 |
T |
C |
7: 81,623,058 (GRCm39) |
K723R |
probably damaging |
Het |
Btbd7 |
A |
G |
12: 102,754,594 (GRCm39) |
L724P |
probably damaging |
Het |
Btnl10 |
G |
T |
11: 58,809,963 (GRCm39) |
V35F |
probably damaging |
Het |
Cd22 |
T |
A |
7: 30,567,473 (GRCm39) |
T704S |
probably damaging |
Het |
Cd4 |
T |
G |
6: 124,847,535 (GRCm39) |
S210R |
probably benign |
Het |
Cped1 |
A |
G |
6: 22,123,579 (GRCm39) |
Q444R |
probably benign |
Het |
Dusp26 |
A |
G |
8: 31,581,747 (GRCm39) |
|
probably benign |
Het |
Dync1i1 |
C |
T |
6: 5,969,429 (GRCm39) |
A418V |
probably damaging |
Het |
Fibp |
A |
G |
19: 5,513,659 (GRCm39) |
D232G |
probably damaging |
Het |
Frem2 |
T |
A |
3: 53,444,914 (GRCm39) |
T2406S |
probably damaging |
Het |
Gm40460 |
ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
7: 141,794,450 (GRCm39) |
|
probably benign |
Het |
Gpr39 |
T |
A |
1: 125,605,155 (GRCm39) |
W28R |
probably damaging |
Het |
Greb1 |
A |
G |
12: 16,773,315 (GRCm39) |
V253A |
probably benign |
Het |
Hexim1 |
T |
G |
11: 103,007,992 (GRCm39) |
L82W |
possibly damaging |
Het |
Hmga1 |
G |
T |
17: 27,779,945 (GRCm39) |
R49L |
possibly damaging |
Het |
Irag2 |
A |
T |
6: 145,115,509 (GRCm39) |
N349I |
probably damaging |
Het |
Itch |
A |
T |
2: 155,052,364 (GRCm39) |
N655Y |
probably damaging |
Het |
Izumo2 |
A |
G |
7: 44,359,757 (GRCm39) |
E129G |
probably damaging |
Het |
Klk1b24 |
G |
A |
7: 43,841,225 (GRCm39) |
C186Y |
probably damaging |
Het |
Lnx1 |
G |
A |
5: 74,788,846 (GRCm39) |
S31F |
possibly damaging |
Het |
Lrrc37a |
T |
C |
11: 103,394,166 (GRCm39) |
I420V |
probably benign |
Het |
Ltk |
A |
C |
2: 119,582,555 (GRCm39) |
C776G |
probably damaging |
Het |
Mast4 |
A |
C |
13: 102,874,223 (GRCm39) |
L1715R |
probably damaging |
Het |
Med28 |
T |
C |
5: 45,680,878 (GRCm39) |
|
probably null |
Het |
Naf1 |
GCCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGA |
GCCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGA |
8: 67,313,138 (GRCm39) |
|
probably benign |
Het |
Nckap1l |
C |
A |
15: 103,390,551 (GRCm39) |
T774K |
probably damaging |
Het |
Nfkbiz |
T |
C |
16: 55,638,663 (GRCm39) |
K266E |
possibly damaging |
Het |
Ntrk3 |
T |
A |
7: 77,900,587 (GRCm39) |
D584V |
probably damaging |
Het |
Or1o1 |
T |
C |
17: 37,717,063 (GRCm39) |
V208A |
probably benign |
Het |
Or2h15 |
T |
A |
17: 38,441,601 (GRCm39) |
T161S |
probably benign |
Het |
Or4c126 |
A |
G |
2: 89,824,201 (GRCm39) |
I155V |
probably benign |
Het |
Or4n4b |
G |
A |
14: 50,536,736 (GRCm39) |
T10I |
possibly damaging |
Het |
Or5h25 |
T |
C |
16: 58,930,400 (GRCm39) |
D191G |
probably damaging |
Het |
Picalm |
T |
A |
7: 89,825,976 (GRCm39) |
I376K |
probably benign |
Het |
Pkd1l3 |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
8: 110,350,827 (GRCm39) |
|
probably benign |
Het |
Prps1l3 |
A |
T |
12: 57,286,034 (GRCm39) |
I275L |
probably benign |
Het |
Psg26 |
G |
A |
7: 18,213,934 (GRCm39) |
R243* |
probably null |
Het |
Ranbp2 |
A |
G |
10: 58,315,052 (GRCm39) |
H1924R |
probably damaging |
Het |
Rasef |
T |
C |
4: 73,709,221 (GRCm39) |
D4G |
probably benign |
Het |
Rttn |
T |
C |
18: 89,108,722 (GRCm39) |
L1642P |
probably damaging |
Het |
Shroom3 |
T |
C |
5: 93,112,384 (GRCm39) |
L1915P |
probably damaging |
Het |
Slc26a10 |
A |
G |
10: 127,013,037 (GRCm39) |
V319A |
probably damaging |
Het |
Slc4a10 |
A |
G |
2: 62,064,839 (GRCm39) |
N231S |
probably benign |
Het |
Sox18 |
T |
C |
2: 181,312,165 (GRCm39) |
Q322R |
possibly damaging |
Het |
Sting1 |
T |
C |
18: 35,867,703 (GRCm39) |
H331R |
probably damaging |
Het |
Syde1 |
G |
T |
10: 78,422,903 (GRCm39) |
P490T |
probably benign |
Het |
Syne2 |
A |
G |
12: 75,990,662 (GRCm39) |
I1881M |
probably damaging |
Het |
Taf1c |
T |
C |
8: 120,327,407 (GRCm39) |
D387G |
probably damaging |
Het |
Tenm4 |
T |
A |
7: 96,544,556 (GRCm39) |
Y2228N |
probably damaging |
Het |
Vmn2r44 |
T |
A |
7: 8,381,369 (GRCm39) |
I175F |
probably benign |
Het |
Zdhhc7 |
C |
A |
8: 120,812,166 (GRCm39) |
C152F |
probably damaging |
Het |
Zfp52 |
T |
A |
17: 21,780,392 (GRCm39) |
M80K |
possibly damaging |
Het |
Zfp612 |
T |
C |
8: 110,815,768 (GRCm39) |
I325T |
probably damaging |
Het |
Zmiz1 |
T |
G |
14: 25,652,372 (GRCm39) |
F597V |
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 |
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'- ACTTATGAGATGAAGGCGGC -3'
(R):5'- GCTCTCAACCTGTGGGTAAC -3'
Sequencing Primer
(F):5'- GGCTTTTGCTTCTCTTCAGAAATG -3'
(R):5'- CACTGTACTGGAAATGTCAGAGCTC -3'
|
Posted On |
2019-05-15 |