Incidental Mutation 'R5706:Tubgcp2'
ID |
451977 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tubgcp2
|
Ensembl Gene |
ENSMUSG00000025474 |
Gene Name |
tubulin, gamma complex component 2 |
Synonyms |
1700022B05Rik |
MMRRC Submission |
043331-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.947)
|
Stock # |
R5706 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
139575868-139616582 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
C to A
at 139612138 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Stop codon
at position 78
(E78*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000147766
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026547]
[ENSMUST00000168194]
[ENSMUST00000209574]
[ENSMUST00000210224]
[ENSMUST00000211261]
[ENSMUST00000211638]
[ENSMUST00000211789]
|
AlphaFold |
Q921G8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000026547
AA Change: R58L
PolyPhen 2
Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000026547 Gene: ENSMUSG00000025474 AA Change: R58L
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: ENSMUST00000168194
|
SMART Domains |
Protein: ENSMUSP00000129154 Gene: ENSMUSG00000025470
Domain | Start | End | E-Value | Type |
low complexity region
|
32 |
45 |
N/A |
INTRINSIC |
ZnF_C2H2
|
80 |
105 |
4.23e0 |
SMART |
ZnF_C2H2
|
107 |
130 |
1.36e1 |
SMART |
ZnF_C2H2
|
144 |
169 |
3.52e-1 |
SMART |
low complexity region
|
186 |
205 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000209574
AA Change: R58L
PolyPhen 2
Score 0.782 (Sensitivity: 0.85; Specificity: 0.93)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209930
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210089
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000210224
AA Change: R58L
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
Predicted Effect |
probably null
Transcript: ENSMUST00000211261
AA Change: E78*
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000211638
AA Change: R58L
PolyPhen 2
Score 0.679 (Sensitivity: 0.86; Specificity: 0.92)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210936
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211186
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000211789
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210419
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000210882
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 95.1%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca4 |
T |
A |
3: 121,847,910 (GRCm39) |
M77K |
probably benign |
Het |
Amy1 |
A |
G |
3: 113,349,769 (GRCm39) |
V467A |
probably damaging |
Het |
Atf4 |
T |
C |
15: 80,140,531 (GRCm39) |
V11A |
possibly damaging |
Het |
B4galt1 |
T |
C |
4: 40,807,268 (GRCm39) |
N373D |
probably damaging |
Het |
Bpifa3 |
A |
G |
2: 153,977,498 (GRCm39) |
K112R |
probably damaging |
Het |
Chd2 |
T |
A |
7: 73,141,105 (GRCm39) |
Y596F |
possibly damaging |
Het |
Clspn |
T |
C |
4: 126,472,211 (GRCm39) |
S962P |
probably damaging |
Het |
Cyp2c68 |
T |
C |
19: 39,722,762 (GRCm39) |
D262G |
possibly damaging |
Het |
Dcaf11 |
T |
C |
14: 55,803,152 (GRCm39) |
I282T |
probably damaging |
Het |
Dmxl1 |
T |
C |
18: 50,090,462 (GRCm39) |
|
probably null |
Het |
Dnah11 |
T |
G |
12: 117,987,670 (GRCm39) |
K2411Q |
probably damaging |
Het |
Elf3 |
A |
G |
1: 135,184,220 (GRCm39) |
V196A |
probably benign |
Het |
Fhad1 |
T |
G |
4: 141,681,427 (GRCm39) |
T538P |
probably damaging |
Het |
Fkbp10 |
A |
G |
11: 100,311,849 (GRCm39) |
D174G |
probably damaging |
Het |
Gas6 |
A |
G |
8: 13,527,098 (GRCm39) |
S217P |
probably damaging |
Het |
Heatr5b |
C |
T |
17: 79,074,304 (GRCm39) |
|
probably null |
Het |
Iqgap3 |
A |
G |
3: 88,023,215 (GRCm39) |
E502G |
probably benign |
Het |
Klc1 |
T |
C |
12: 111,762,061 (GRCm39) |
V577A |
possibly damaging |
Het |
Lck |
T |
C |
4: 129,445,431 (GRCm39) |
|
probably null |
Het |
Mc3r |
C |
A |
2: 172,091,610 (GRCm39) |
Y277* |
probably null |
Het |
Mlxipl |
T |
C |
5: 135,162,458 (GRCm39) |
V640A |
probably benign |
Het |
Mrc2 |
A |
T |
11: 105,223,169 (GRCm39) |
N471Y |
probably damaging |
Het |
Ncan |
T |
A |
8: 70,554,667 (GRCm39) |
H1050L |
probably damaging |
Het |
Nrl |
C |
A |
14: 55,759,889 (GRCm39) |
V13F |
probably damaging |
Het |
Obscn |
T |
A |
11: 58,967,082 (GRCm39) |
Y546F |
probably damaging |
Het |
Or52u1 |
T |
G |
7: 104,237,097 (GRCm39) |
S46A |
probably benign |
Het |
Or6c209 |
A |
G |
10: 129,483,960 (GRCm39) |
|
probably null |
Het |
Or6d14 |
A |
G |
6: 116,534,074 (GRCm39) |
I229M |
probably damaging |
Het |
Pde3b |
G |
A |
7: 114,120,927 (GRCm39) |
G684D |
probably damaging |
Het |
Prkaa1 |
C |
T |
15: 5,203,823 (GRCm39) |
T244I |
probably benign |
Het |
Scfd2 |
A |
T |
5: 74,367,059 (GRCm39) |
|
probably null |
Het |
Slc22a30 |
G |
A |
19: 8,321,757 (GRCm39) |
Q436* |
probably null |
Het |
Smg1 |
A |
T |
7: 117,744,813 (GRCm39) |
V3113D |
possibly damaging |
Het |
Sorbs1 |
T |
C |
19: 40,365,325 (GRCm39) |
T153A |
probably benign |
Het |
Spag16 |
A |
G |
1: 69,909,448 (GRCm39) |
T182A |
probably benign |
Het |
Spopfm1 |
T |
A |
3: 94,173,959 (GRCm39) |
H322Q |
possibly damaging |
Het |
Svs5 |
T |
C |
2: 164,079,589 (GRCm39) |
K106R |
possibly damaging |
Het |
Tenm1 |
A |
G |
X: 42,163,572 (GRCm39) |
V107A |
possibly damaging |
Het |
Topaz1 |
A |
T |
9: 122,628,550 (GRCm39) |
I1546F |
possibly damaging |
Het |
Vars1 |
A |
G |
17: 35,224,457 (GRCm39) |
|
probably null |
Het |
Vmn2r109 |
A |
T |
17: 20,774,567 (GRCm39) |
W263R |
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 |
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 |
R7523:Tubgcp2
|
UTSW |
7 |
139,586,783 (GRCm39) |
missense |
probably benign |
0.08 |
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'- ATGCCTTATGTGCATTTACATCTGC -3'
(R):5'- CGCGGACCATAGACATTAACTTG -3'
Sequencing Primer
(F):5'- TCTCACCGATTGGCAGCTGTG -3'
(R):5'- AGACATTAACTTGCTGTTTATTTTGG -3'
|
Posted On |
2017-01-03 |