Incidental Mutation 'R7523:Tubgcp2'
ID |
582785 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tubgcp2
|
Ensembl Gene |
ENSMUSG00000025474 |
Gene Name |
tubulin, gamma complex component 2 |
Synonyms |
1700022B05Rik |
MMRRC Submission |
045595-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.947)
|
Stock # |
R7523 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
139575868-139616582 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 139586783 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 399
(I399T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000026547
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026547]
[ENSMUST00000210224]
[ENSMUST00000211638]
|
AlphaFold |
Q921G8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000026547
AA Change: I399T
PolyPhen 2
Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000026547 Gene: ENSMUSG00000025474 AA Change: I399T
Domain | Start | End | E-Value | Type |
low complexity region
|
109 |
121 |
N/A |
INTRINSIC |
Pfam:Spc97_Spc98
|
220 |
738 |
8.6e-123 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000210224
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000211638
AA Change: I399T
PolyPhen 2
Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)
|
Meta Mutation Damage Score |
0.2550 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
100% (46/46) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4932414N04Rik |
T |
A |
2: 68,492,824 (GRCm39) |
H40Q |
unknown |
Het |
4932414N04Rik |
A |
T |
2: 68,569,673 (GRCm39) |
Q463L |
probably benign |
Het |
Ano4 |
C |
A |
10: 88,807,257 (GRCm39) |
E775* |
probably null |
Het |
Atp12a |
T |
C |
14: 56,603,425 (GRCm39) |
V10A |
possibly damaging |
Het |
Camkmt |
A |
G |
17: 85,699,056 (GRCm39) |
I144M |
probably benign |
Het |
Ciao2b |
G |
A |
8: 105,368,404 (GRCm39) |
|
probably benign |
Het |
Cyth1 |
TGGGCAA |
T |
11: 118,074,749 (GRCm39) |
|
probably null |
Het |
Dazl |
G |
A |
17: 50,594,569 (GRCm39) |
T162I |
probably damaging |
Het |
Dnah10 |
A |
G |
5: 124,824,803 (GRCm39) |
K653R |
probably damaging |
Het |
Exosc10 |
A |
T |
4: 148,648,299 (GRCm39) |
|
probably null |
Het |
Fbn2 |
T |
C |
18: 58,199,152 (GRCm39) |
D1372G |
probably benign |
Het |
Fxr1 |
T |
C |
3: 34,093,692 (GRCm39) |
V23A |
probably benign |
Het |
Gmps |
T |
C |
3: 63,919,087 (GRCm39) |
I557T |
possibly damaging |
Het |
Ifnab |
A |
T |
4: 88,609,029 (GRCm39) |
Y146N |
probably damaging |
Het |
Krt78 |
T |
C |
15: 101,855,036 (GRCm39) |
Y925C |
not run |
Het |
Lrp1b |
C |
T |
2: 41,401,473 (GRCm39) |
V394M |
|
Het |
Ltbp2 |
T |
C |
12: 84,837,808 (GRCm39) |
T1211A |
probably benign |
Het |
Man2a2 |
G |
C |
7: 80,018,613 (GRCm39) |
A82G |
probably benign |
Het |
Mdn1 |
A |
T |
4: 32,667,270 (GRCm39) |
|
probably null |
Het |
Myo15b |
A |
T |
11: 115,781,684 (GRCm39) |
I2798F |
unknown |
Het |
Nat3 |
T |
C |
8: 68,000,226 (GRCm39) |
I35T |
probably damaging |
Het |
Nectin2 |
A |
G |
7: 19,464,037 (GRCm39) |
V314A |
probably benign |
Het |
Nexn |
T |
C |
3: 151,952,815 (GRCm39) |
R316G |
probably benign |
Het |
Nfx1 |
A |
G |
4: 41,016,119 (GRCm39) |
I894V |
probably benign |
Het |
Or2c1 |
T |
C |
16: 3,657,563 (GRCm39) |
V242A |
probably benign |
Het |
Or8j3 |
T |
C |
2: 86,028,389 (GRCm39) |
K236E |
probably damaging |
Het |
Pdcd4 |
G |
T |
19: 53,899,379 (GRCm39) |
V123F |
probably damaging |
Het |
Pik3c3 |
C |
T |
18: 30,426,708 (GRCm39) |
R275W |
probably damaging |
Het |
Ppt2 |
A |
G |
17: 34,845,777 (GRCm39) |
|
probably null |
Het |
Prss35 |
T |
A |
9: 86,637,427 (GRCm39) |
C66S |
probably damaging |
Het |
Ptbp3 |
A |
G |
4: 59,546,159 (GRCm39) |
V11A |
probably benign |
Het |
Ptpn22 |
A |
G |
3: 103,819,331 (GRCm39) |
N795S |
probably damaging |
Het |
Ptprg |
T |
G |
14: 12,237,130 (GRCm38) |
I1383S |
probably damaging |
Het |
Rtel1 |
G |
A |
2: 180,964,108 (GRCm39) |
V36M |
probably damaging |
Het |
Sf3b3 |
A |
G |
8: 111,540,352 (GRCm39) |
I1023T |
probably benign |
Het |
Slc44a2 |
A |
G |
9: 21,257,288 (GRCm39) |
E411G |
probably null |
Het |
Stard9 |
T |
C |
2: 120,530,078 (GRCm39) |
Y2112H |
probably benign |
Het |
Tada2b |
T |
C |
5: 36,634,111 (GRCm39) |
I156V |
probably benign |
Het |
Tenm2 |
A |
T |
11: 35,969,408 (GRCm39) |
|
probably null |
Het |
Tle1 |
A |
T |
4: 72,063,655 (GRCm39) |
S199R |
possibly damaging |
Het |
Ubr5 |
T |
C |
15: 38,004,299 (GRCm39) |
N1344S |
|
Het |
Vmn2r114 |
A |
G |
17: 23,529,611 (GRCm39) |
F164L |
probably benign |
Het |
Vps13a |
G |
T |
19: 16,681,153 (GRCm39) |
T1041K |
probably benign |
Het |
Zbtb20 |
T |
C |
16: 43,430,875 (GRCm39) |
V389A |
probably benign |
Het |
Zfp811 |
A |
T |
17: 33,016,726 (GRCm39) |
I438N |
probably benign |
Het |
Zfp90 |
A |
G |
8: 107,150,545 (GRCm39) |
D86G |
probably benign |
Het |
|
Other mutations in Tubgcp2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00163:Tubgcp2
|
APN |
7 |
139,610,935 (GRCm39) |
missense |
possibly damaging |
0.58 |
IGL00791:Tubgcp2
|
APN |
7 |
139,581,411 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL02643:Tubgcp2
|
APN |
7 |
139,576,067 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02710:Tubgcp2
|
APN |
7 |
139,584,897 (GRCm39) |
splice site |
probably benign |
|
IGL03352:Tubgcp2
|
APN |
7 |
139,580,940 (GRCm39) |
missense |
probably benign |
0.01 |
R0189:Tubgcp2
|
UTSW |
7 |
139,581,518 (GRCm39) |
splice site |
probably benign |
|
R0333:Tubgcp2
|
UTSW |
7 |
139,579,260 (GRCm39) |
missense |
probably damaging |
1.00 |
R0379:Tubgcp2
|
UTSW |
7 |
139,612,105 (GRCm39) |
missense |
probably damaging |
1.00 |
R1051:Tubgcp2
|
UTSW |
7 |
139,578,809 (GRCm39) |
missense |
probably benign |
0.26 |
R1192:Tubgcp2
|
UTSW |
7 |
139,609,751 (GRCm39) |
missense |
probably benign |
|
R1528:Tubgcp2
|
UTSW |
7 |
139,613,696 (GRCm39) |
unclassified |
probably benign |
|
R1728:Tubgcp2
|
UTSW |
7 |
139,577,968 (GRCm39) |
missense |
probably benign |
|
R1729:Tubgcp2
|
UTSW |
7 |
139,577,968 (GRCm39) |
missense |
probably benign |
|
R1784:Tubgcp2
|
UTSW |
7 |
139,577,968 (GRCm39) |
missense |
probably benign |
|
R1888:Tubgcp2
|
UTSW |
7 |
139,586,069 (GRCm39) |
missense |
probably damaging |
1.00 |
R1888:Tubgcp2
|
UTSW |
7 |
139,586,069 (GRCm39) |
missense |
probably damaging |
1.00 |
R1888:Tubgcp2
|
UTSW |
7 |
139,579,183 (GRCm39) |
missense |
probably damaging |
1.00 |
R1888:Tubgcp2
|
UTSW |
7 |
139,579,183 (GRCm39) |
missense |
probably damaging |
1.00 |
R1967:Tubgcp2
|
UTSW |
7 |
139,586,066 (GRCm39) |
missense |
probably benign |
0.09 |
R4514:Tubgcp2
|
UTSW |
7 |
139,575,984 (GRCm39) |
missense |
possibly damaging |
0.51 |
R4545:Tubgcp2
|
UTSW |
7 |
139,575,984 (GRCm39) |
missense |
possibly damaging |
0.51 |
R4774:Tubgcp2
|
UTSW |
7 |
139,576,074 (GRCm39) |
missense |
probably damaging |
1.00 |
R4790:Tubgcp2
|
UTSW |
7 |
139,579,201 (GRCm39) |
missense |
probably damaging |
1.00 |
R5114:Tubgcp2
|
UTSW |
7 |
139,587,354 (GRCm39) |
missense |
possibly damaging |
0.91 |
R5435:Tubgcp2
|
UTSW |
7 |
139,575,985 (GRCm39) |
missense |
possibly damaging |
0.51 |
R5531:Tubgcp2
|
UTSW |
7 |
139,584,937 (GRCm39) |
splice site |
probably null |
|
R5699:Tubgcp2
|
UTSW |
7 |
139,578,701 (GRCm39) |
missense |
possibly damaging |
0.53 |
R5706:Tubgcp2
|
UTSW |
7 |
139,612,138 (GRCm39) |
nonsense |
probably null |
|
R6123:Tubgcp2
|
UTSW |
7 |
139,587,510 (GRCm39) |
missense |
probably damaging |
1.00 |
R7153:Tubgcp2
|
UTSW |
7 |
139,580,949 (GRCm39) |
missense |
probably benign |
|
R7165:Tubgcp2
|
UTSW |
7 |
139,585,274 (GRCm39) |
missense |
probably damaging |
0.99 |
R7213:Tubgcp2
|
UTSW |
7 |
139,587,927 (GRCm39) |
missense |
probably benign |
0.28 |
R7424:Tubgcp2
|
UTSW |
7 |
139,587,837 (GRCm39) |
missense |
possibly damaging |
0.65 |
R7511:Tubgcp2
|
UTSW |
7 |
139,584,793 (GRCm39) |
missense |
probably benign |
0.00 |
R7612:Tubgcp2
|
UTSW |
7 |
139,580,964 (GRCm39) |
missense |
probably damaging |
1.00 |
R7951:Tubgcp2
|
UTSW |
7 |
139,587,893 (GRCm39) |
missense |
possibly damaging |
0.69 |
R8220:Tubgcp2
|
UTSW |
7 |
139,586,053 (GRCm39) |
missense |
possibly damaging |
0.92 |
R8481:Tubgcp2
|
UTSW |
7 |
139,613,588 (GRCm39) |
missense |
probably damaging |
1.00 |
R8717:Tubgcp2
|
UTSW |
7 |
139,576,705 (GRCm39) |
missense |
probably benign |
|
R8886:Tubgcp2
|
UTSW |
7 |
139,584,882 (GRCm39) |
missense |
probably benign |
0.04 |
R9222:Tubgcp2
|
UTSW |
7 |
139,587,965 (GRCm39) |
missense |
probably damaging |
1.00 |
R9603:Tubgcp2
|
UTSW |
7 |
139,584,789 (GRCm39) |
missense |
probably benign |
0.00 |
R9666:Tubgcp2
|
UTSW |
7 |
139,587,836 (GRCm39) |
missense |
probably damaging |
1.00 |
X0004:Tubgcp2
|
UTSW |
7 |
139,586,934 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
Predicted Primers |
PCR Primer
(F):5'- ATTTAGACACCAGTGTTCCTCAC -3'
(R):5'- TTTTGGTAGTGAGCCACCCC -3'
Sequencing Primer
(F):5'- GTGTTCCTCACTCAACAGGATAAAG -3'
(R):5'- GGTAGTGAGCCACCCCTTTCTAC -3'
|
Posted On |
2019-10-17 |