Incidental Mutation 'IGL03352:Tubgcp2'
| ID |
419748 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tubgcp2
|
| Ensembl Gene |
ENSMUSG00000025474 |
| Gene Name |
tubulin, gamma complex component 2 |
| Synonyms |
1700022B05Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.952)
|
| Stock # |
IGL03352
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
139575868-139616582 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 139580940 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 671
(H671L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147329
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026547]
[ENSMUST00000210224]
[ENSMUST00000211638]
|
| AlphaFold |
Q921G8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026547
AA Change: H671L
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000026547
Gene: ENSMUSG00000025474
AA Change: H671L
| 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 |
noncoding transcript
Transcript: ENSMUST00000209930
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210224
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211186
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211638
AA Change: H671L
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aoah |
A |
G |
13: 21,184,213 (GRCm39) |
S426G |
probably benign |
Het |
| Arap3 |
T |
C |
18: 38,114,355 (GRCm39) |
|
probably benign |
Het |
| Arhgap45 |
T |
A |
10: 79,866,585 (GRCm39) |
N1029K |
probably damaging |
Het |
| Arhgef10l |
A |
T |
4: 140,311,242 (GRCm39) |
M1K |
probably null |
Het |
| Bloc1s6 |
T |
C |
2: 122,584,638 (GRCm39) |
L71P |
probably damaging |
Het |
| Ccer1 |
G |
T |
10: 97,529,439 (GRCm39) |
R34M |
unknown |
Het |
| Cd44 |
T |
C |
2: 102,675,759 (GRCm39) |
|
probably benign |
Het |
| Col17a1 |
T |
C |
19: 47,669,814 (GRCm39) |
|
probably null |
Het |
| Cspp1 |
A |
G |
1: 10,117,662 (GRCm39) |
E38G |
possibly damaging |
Het |
| Dock10 |
A |
T |
1: 80,584,013 (GRCm39) |
|
probably benign |
Het |
| Dsg3 |
A |
T |
18: 20,660,689 (GRCm39) |
M343L |
probably benign |
Het |
| Eif3l |
G |
A |
15: 78,961,251 (GRCm39) |
|
probably benign |
Het |
| Fcrl1 |
T |
C |
3: 87,292,398 (GRCm39) |
L150P |
probably benign |
Het |
| Flg2 |
T |
G |
3: 93,109,801 (GRCm39) |
S610A |
unknown |
Het |
| Grin3b |
C |
T |
10: 79,809,615 (GRCm39) |
R374C |
probably damaging |
Het |
| H2-Oa |
A |
T |
17: 34,313,377 (GRCm39) |
I143F |
probably damaging |
Het |
| Itgae |
C |
T |
11: 73,022,556 (GRCm39) |
P924S |
probably damaging |
Het |
| Itpr2 |
T |
A |
6: 146,058,602 (GRCm39) |
D2521V |
probably damaging |
Het |
| Itprid2 |
T |
A |
2: 79,475,445 (GRCm39) |
M468K |
probably damaging |
Het |
| Laptm4a |
G |
A |
12: 8,981,719 (GRCm39) |
G143D |
probably benign |
Het |
| Lrp6 |
T |
C |
6: 134,456,726 (GRCm39) |
Y846C |
probably damaging |
Het |
| Mcm10 |
A |
T |
2: 4,999,407 (GRCm39) |
S749T |
probably damaging |
Het |
| Nemf |
T |
C |
12: 69,378,679 (GRCm39) |
N548D |
probably damaging |
Het |
| Nlrp4e |
T |
A |
7: 23,020,251 (GRCm39) |
L246Q |
probably damaging |
Het |
| Nsun6 |
A |
T |
2: 15,001,157 (GRCm39) |
C466* |
probably null |
Het |
| Olfm2 |
T |
C |
9: 20,580,019 (GRCm39) |
D252G |
probably damaging |
Het |
| Or10j5 |
A |
C |
1: 172,784,850 (GRCm39) |
M163L |
probably benign |
Het |
| Or14j9 |
T |
A |
17: 37,874,681 (GRCm39) |
I174F |
probably damaging |
Het |
| Or2h1 |
G |
A |
17: 37,404,311 (GRCm39) |
L152F |
probably benign |
Het |
| Or9i14 |
T |
C |
19: 13,792,292 (GRCm39) |
I221V |
probably damaging |
Het |
| Pcdhb14 |
C |
T |
18: 37,582,057 (GRCm39) |
R388C |
possibly damaging |
Het |
| Piwil1 |
C |
T |
5: 128,828,136 (GRCm39) |
T712I |
probably benign |
Het |
| Piwil4 |
G |
T |
9: 14,637,183 (GRCm39) |
T377K |
probably damaging |
Het |
| Prg3 |
T |
C |
2: 84,823,370 (GRCm39) |
F182L |
probably damaging |
Het |
| Ptgds |
T |
C |
2: 25,359,622 (GRCm39) |
T22A |
probably benign |
Het |
| Retsat |
T |
C |
6: 72,575,666 (GRCm39) |
V19A |
probably damaging |
Het |
| Rpl21-ps4 |
A |
T |
14: 11,227,760 (GRCm38) |
|
noncoding transcript |
Het |
| Sh3glb2 |
A |
G |
2: 30,235,363 (GRCm39) |
V370A |
probably damaging |
Het |
| Skint4 |
G |
T |
4: 112,022,883 (GRCm39) |
W459C |
possibly damaging |
Het |
| Slco1a1 |
T |
A |
6: 141,857,611 (GRCm39) |
R573S |
probably benign |
Het |
| Smgc |
T |
C |
15: 91,744,876 (GRCm39) |
S694P |
probably damaging |
Het |
| Spaca6 |
A |
G |
17: 18,058,401 (GRCm39) |
Y7C |
probably damaging |
Het |
| Spn |
T |
C |
7: 126,736,178 (GRCm39) |
T110A |
probably benign |
Het |
| Tepsin |
C |
T |
11: 119,982,703 (GRCm39) |
V456I |
probably benign |
Het |
| Tex261 |
C |
T |
6: 83,748,249 (GRCm39) |
R171Q |
possibly damaging |
Het |
| Tmem184a |
A |
T |
5: 139,798,755 (GRCm39) |
F65I |
probably damaging |
Het |
| Tpm3 |
G |
A |
3: 89,995,052 (GRCm39) |
|
probably null |
Het |
| Unc13b |
T |
G |
4: 43,237,110 (GRCm39) |
D3393E |
possibly damaging |
Het |
| Vcan |
T |
A |
13: 89,853,125 (GRCm39) |
M612L |
probably benign |
Het |
| Vmn1r180 |
C |
A |
7: 23,652,077 (GRCm39) |
S80* |
probably null |
Het |
| Vmn1r64 |
C |
T |
7: 5,887,070 (GRCm39) |
V158I |
probably benign |
Het |
| Vps13d |
C |
T |
4: 144,894,072 (GRCm39) |
V496I |
possibly damaging |
Het |
| Wee2 |
T |
G |
6: 40,429,589 (GRCm39) |
|
probably null |
Het |
| Zfp804b |
T |
C |
5: 6,820,039 (GRCm39) |
N972S |
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 |
|
|
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 |
|
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 |
|
| Posted On |
2016-08-02 |
Incidental Mutation