Incidental Mutation 'R7016:Tubgcp5'
ID |
545302 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tubgcp5
|
Ensembl Gene |
ENSMUSG00000033790 |
Gene Name |
tubulin, gamma complex component 5 |
Synonyms |
GCP5, B130010C12Rik |
MMRRC Submission |
045117-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.967)
|
Stock # |
R7016 (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 55443977 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 2
(D2G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000146178
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032627]
[ENSMUST00000205796]
[ENSMUST00000206191]
[ENSMUST00000206454]
|
AlphaFold |
Q8BKN5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000032627
AA Change: D12G
PolyPhen 2
Score 0.329 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000032627 Gene: ENSMUSG00000033790 AA Change: D12G
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 |
possibly damaging
Transcript: ENSMUST00000205796
AA Change: D12G
PolyPhen 2
Score 0.601 (Sensitivity: 0.87; Specificity: 0.91)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000206191
AA Change: D12G
PolyPhen 2
Score 0.690 (Sensitivity: 0.86; Specificity: 0.92)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000206454
AA Change: D2G
PolyPhen 2
Score 0.758 (Sensitivity: 0.85; Specificity: 0.92)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.2%
|
Validation Efficiency |
98% (63/64) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb4 |
T |
A |
5: 8,986,843 (GRCm39) |
V754D |
probably benign |
Het |
Actn1 |
T |
A |
12: 80,219,742 (GRCm39) |
M710L |
possibly damaging |
Het |
Adam1a |
A |
G |
5: 121,659,101 (GRCm39) |
F64S |
probably benign |
Het |
Aip |
G |
T |
19: 4,171,402 (GRCm39) |
D11E |
probably benign |
Het |
Ak7 |
T |
A |
12: 105,747,938 (GRCm39) |
Y714* |
probably null |
Het |
Amhr2 |
A |
G |
15: 102,362,799 (GRCm39) |
E522G |
possibly damaging |
Het |
Amotl1 |
A |
G |
9: 14,504,995 (GRCm39) |
L108P |
probably damaging |
Het |
Arhgef17 |
A |
G |
7: 100,528,184 (GRCm39) |
S677P |
probably benign |
Het |
Asph |
T |
C |
4: 9,630,604 (GRCm39) |
|
probably null |
Het |
Atp11b |
T |
C |
3: 35,895,185 (GRCm39) |
S908P |
probably benign |
Het |
Atp13a3 |
C |
A |
16: 30,157,308 (GRCm39) |
V903L |
possibly damaging |
Het |
Bcam |
G |
A |
7: 19,492,368 (GRCm39) |
R576* |
probably null |
Het |
Btbd2 |
A |
G |
10: 80,484,449 (GRCm39) |
S141P |
probably damaging |
Het |
Cacna1b |
T |
C |
2: 24,652,860 (GRCm39) |
N67S |
possibly damaging |
Het |
Cc2d2b |
A |
G |
19: 40,784,248 (GRCm39) |
T872A |
possibly damaging |
Het |
Ccdc24 |
T |
A |
4: 117,728,313 (GRCm39) |
I144F |
probably null |
Het |
Cep44 |
A |
T |
8: 56,997,234 (GRCm39) |
F101L |
possibly damaging |
Het |
Cfap410 |
T |
A |
10: 77,818,790 (GRCm39) |
C154S |
probably benign |
Het |
Cimap1d |
T |
C |
10: 79,475,790 (GRCm39) |
Y258C |
probably damaging |
Het |
Disp1 |
C |
A |
1: 182,869,030 (GRCm39) |
R1130L |
probably damaging |
Het |
Dnajc21 |
G |
T |
15: 10,461,493 (GRCm39) |
Y152* |
probably null |
Het |
Edem2 |
A |
G |
2: 155,557,992 (GRCm39) |
F214L |
possibly damaging |
Het |
Fam118b |
G |
A |
9: 35,135,014 (GRCm39) |
R198W |
probably damaging |
Het |
Fgb |
A |
G |
3: 82,953,371 (GRCm39) |
V133A |
probably benign |
Het |
Fsip2 |
A |
G |
2: 82,820,979 (GRCm39) |
T5571A |
probably benign |
Het |
Gm40460 |
CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
7: 141,794,554 (GRCm39) |
|
probably benign |
Het |
Hjurp |
CTCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCT |
C |
1: 88,193,999 (GRCm39) |
|
probably benign |
Het |
Hjurp |
TCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCTGCT |
TCT |
1: 88,194,000 (GRCm39) |
|
probably benign |
Het |
Hnf4a |
T |
A |
2: 163,406,193 (GRCm39) |
Y277N |
probably damaging |
Het |
Htatip2 |
A |
G |
7: 49,420,583 (GRCm39) |
D143G |
possibly damaging |
Het |
Itgae |
A |
G |
11: 73,010,342 (GRCm39) |
N611D |
probably damaging |
Het |
Ksr1 |
A |
T |
11: 78,918,362 (GRCm39) |
N515K |
probably damaging |
Het |
Lrp1 |
C |
A |
10: 127,395,836 (GRCm39) |
|
probably null |
Het |
Map3k20 |
T |
A |
2: 72,208,979 (GRCm39) |
V195D |
probably damaging |
Het |
Meox2 |
A |
G |
12: 37,159,223 (GRCm39) |
S132G |
probably benign |
Het |
Mmp1a |
TG |
TGG |
9: 7,465,083 (GRCm38) |
|
probably null |
Het |
Nell2 |
T |
A |
15: 95,127,032 (GRCm39) |
N781I |
possibly damaging |
Het |
Or12d16-ps1 |
G |
A |
17: 37,706,094 (GRCm39) |
G221D |
possibly damaging |
Het |
Or13a22 |
A |
G |
7: 140,073,153 (GRCm39) |
T201A |
probably benign |
Het |
Or51m1 |
A |
G |
7: 103,578,737 (GRCm39) |
I236V |
probably benign |
Het |
Or5e1 |
A |
G |
7: 108,354,918 (GRCm39) |
N285S |
probably damaging |
Het |
Otoa |
A |
T |
7: 120,746,989 (GRCm39) |
Q918L |
probably damaging |
Het |
Palld |
T |
G |
8: 61,969,032 (GRCm39) |
K1022T |
probably damaging |
Het |
Parp8 |
A |
T |
13: 117,031,627 (GRCm39) |
S362T |
probably damaging |
Het |
Phrf1 |
A |
G |
7: 140,817,476 (GRCm39) |
E95G |
probably damaging |
Het |
Pls1 |
A |
T |
9: 95,668,994 (GRCm39) |
F76I |
probably damaging |
Het |
Pnp |
T |
A |
14: 51,187,706 (GRCm39) |
|
probably null |
Het |
Ptdss1 |
A |
C |
13: 67,120,685 (GRCm39) |
M294L |
probably benign |
Het |
Rictor |
T |
A |
15: 6,804,361 (GRCm39) |
|
probably null |
Het |
Rilp |
A |
G |
11: 75,401,745 (GRCm39) |
E175G |
probably damaging |
Het |
Serpina16 |
T |
A |
12: 103,641,630 (GRCm39) |
T32S |
probably benign |
Het |
Sim1 |
C |
T |
10: 50,860,346 (GRCm39) |
S736L |
probably benign |
Het |
Smarcc2 |
T |
G |
10: 128,321,198 (GRCm39) |
|
probably null |
Het |
Smtn |
A |
G |
11: 3,480,368 (GRCm39) |
|
probably null |
Het |
Sspo |
T |
A |
6: 48,426,098 (GRCm39) |
W98R |
probably damaging |
Het |
St8sia3 |
A |
T |
18: 64,402,654 (GRCm39) |
I98F |
probably benign |
Het |
Taf10 |
A |
T |
7: 105,393,205 (GRCm39) |
|
probably null |
Het |
Tasor2 |
A |
T |
13: 3,626,857 (GRCm39) |
V1031E |
possibly damaging |
Het |
Tbc1d4 |
T |
A |
14: 101,724,877 (GRCm39) |
N580I |
probably damaging |
Het |
Trim12c |
A |
T |
7: 103,997,413 (GRCm39) |
C48S |
|
Het |
Tsc22d1 |
C |
A |
14: 76,654,982 (GRCm39) |
T405K |
probably damaging |
Het |
Wwc2 |
T |
C |
8: 48,300,583 (GRCm39) |
E960G |
unknown |
Het |
Yme1l1 |
T |
A |
2: 23,076,367 (GRCm39) |
|
probably null |
Het |
Zbtb2 |
G |
C |
10: 4,318,646 (GRCm39) |
P460R |
probably damaging |
Het |
Zfp62 |
T |
G |
11: 49,106,764 (GRCm39) |
I285S |
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 |
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'- GTCTGAAGACTCTCGGATTTCCC -3'
(R):5'- AACTGCGGGTTTCTCGCAAG -3'
Sequencing Primer
(F):5'- ATTTCCCGGTGTGCAAGCAG -3'
(R):5'- GGTTTCTCGCAAGGGCAC -3'
|
Posted On |
2019-05-13 |