Incidental Mutation 'IGL01359:Nuggc'
| ID |
75660 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Nuggc
|
| Ensembl Gene |
ENSMUSG00000061356 |
| Gene Name |
nuclear GTPase, germinal center associated |
| Synonyms |
SLIP-GC, Gm600, LOC239151 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.071)
|
| Stock # |
IGL01359
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
65835995-65885980 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 65860656 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 418
(V418A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118402
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079469]
[ENSMUST00000150897]
|
| AlphaFold |
D3YWJ0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000079469
AA Change: V434A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000078434
Gene: ENSMUSG00000061356
AA Change: V434A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Dynamin_N
|
119 |
372 |
2.2e-15 |
PFAM |
|
low complexity region
|
406 |
421 |
N/A |
INTRINSIC |
|
Blast:AAA
|
434 |
739 |
4e-14 |
BLAST |
|
coiled coil region
|
758 |
792 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000150897
AA Change: V418A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000118402
Gene: ENSMUSG00000061356
AA Change: V418A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Dynamin_N
|
103 |
356 |
6.1e-16 |
PFAM |
|
low complexity region
|
390 |
405 |
N/A |
INTRINSIC |
|
Blast:AAA
|
418 |
723 |
4e-14 |
BLAST |
|
coiled coil region
|
742 |
776 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased somatic mutation frequency immunoglobulin and non-immunoglobulin loci in B cells. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrf1 |
G |
A |
17: 43,621,577 (GRCm39) |
E605K |
probably damaging |
Het |
| Adgrl4 |
G |
A |
3: 151,248,923 (GRCm39) |
C737Y |
probably damaging |
Het |
| Ankk1 |
A |
T |
9: 49,327,328 (GRCm39) |
I617N |
possibly damaging |
Het |
| B3gat2 |
T |
C |
1: 23,802,301 (GRCm39) |
F196L |
probably damaging |
Het |
| Bcl2l14 |
T |
A |
6: 134,400,828 (GRCm39) |
I83N |
probably damaging |
Het |
| Bcr |
T |
C |
10: 74,995,611 (GRCm39) |
|
probably benign |
Het |
| Ckmt2 |
A |
T |
13: 92,009,939 (GRCm39) |
I127N |
probably damaging |
Het |
| Dhx33 |
G |
A |
11: 70,884,687 (GRCm39) |
Q40* |
probably null |
Het |
| Dnah11 |
T |
C |
12: 117,946,734 (GRCm39) |
T3117A |
probably damaging |
Het |
| Dnai2 |
A |
G |
11: 114,642,614 (GRCm39) |
Y405C |
probably benign |
Het |
| Emc2 |
A |
G |
15: 43,375,145 (GRCm39) |
Y214C |
probably damaging |
Het |
| Fbxw2 |
T |
C |
2: 34,712,762 (GRCm39) |
T100A |
probably benign |
Het |
| Fkrp |
C |
T |
7: 16,545,415 (GRCm39) |
R149Q |
probably benign |
Het |
| Fsd1l |
A |
G |
4: 53,659,601 (GRCm39) |
R153G |
possibly damaging |
Het |
| Galnt4 |
T |
C |
10: 98,945,459 (GRCm39) |
Y395H |
probably damaging |
Het |
| Gk5 |
T |
C |
9: 96,019,842 (GRCm39) |
L126P |
probably damaging |
Het |
| Gm973 |
A |
G |
1: 59,669,438 (GRCm39) |
S830G |
probably benign |
Het |
| Gpc5 |
G |
A |
14: 115,607,162 (GRCm39) |
G255S |
possibly damaging |
Het |
| Grk3 |
C |
A |
5: 113,085,626 (GRCm39) |
S370I |
probably damaging |
Het |
| Herc1 |
A |
G |
9: 66,346,550 (GRCm39) |
D1972G |
probably benign |
Het |
| Itih3 |
T |
A |
14: 30,639,729 (GRCm39) |
D364V |
probably damaging |
Het |
| Lce1f |
G |
T |
3: 92,626,491 (GRCm39) |
C55* |
probably null |
Het |
| Ltn1 |
A |
C |
16: 87,202,581 (GRCm39) |
|
probably benign |
Het |
| Lyl1 |
C |
T |
8: 85,429,315 (GRCm39) |
A8V |
possibly damaging |
Het |
| Mdn1 |
A |
G |
4: 32,743,686 (GRCm39) |
E3974G |
probably benign |
Het |
| Msl3l2 |
T |
C |
10: 55,992,340 (GRCm39) |
V355A |
probably damaging |
Het |
| Nadsyn1 |
T |
C |
7: 143,374,967 (GRCm39) |
I30V |
possibly damaging |
Het |
| Or4f57 |
A |
T |
2: 111,791,406 (GRCm39) |
M4K |
probably benign |
Het |
| Or52e8 |
T |
C |
7: 104,625,193 (GRCm39) |
|
probably null |
Het |
| Or52m2 |
A |
T |
7: 102,263,379 (GRCm39) |
H272Q |
probably benign |
Het |
| Ppp4r3a |
T |
C |
12: 101,024,755 (GRCm39) |
E248G |
probably damaging |
Het |
| Rab3gap2 |
T |
A |
1: 184,971,067 (GRCm39) |
V234E |
probably damaging |
Het |
| Radil |
G |
A |
5: 142,529,468 (GRCm39) |
T105I |
probably damaging |
Het |
| Saa4 |
A |
G |
7: 46,381,060 (GRCm39) |
W21R |
possibly damaging |
Het |
| Sec62 |
G |
A |
3: 30,868,455 (GRCm39) |
S228N |
unknown |
Het |
| Setd4 |
C |
T |
16: 93,388,127 (GRCm39) |
G120S |
probably damaging |
Het |
| Sgpl1 |
G |
A |
10: 60,936,687 (GRCm39) |
T556I |
probably benign |
Het |
| Slc14a2 |
T |
C |
18: 78,197,323 (GRCm39) |
D811G |
probably benign |
Het |
| Slc26a11 |
A |
T |
11: 119,254,257 (GRCm39) |
M192L |
probably benign |
Het |
| Spon1 |
A |
T |
7: 113,633,525 (GRCm39) |
Q656L |
probably damaging |
Het |
| Tex15 |
A |
G |
8: 34,071,926 (GRCm39) |
D2491G |
probably damaging |
Het |
| Tox |
T |
C |
4: 6,697,583 (GRCm39) |
T407A |
probably damaging |
Het |
| Ubr5 |
A |
T |
15: 37,973,250 (GRCm39) |
I2611N |
probably damaging |
Het |
| Usp25 |
G |
A |
16: 76,856,141 (GRCm39) |
A245T |
probably damaging |
Het |
| Vwa8 |
C |
A |
14: 79,302,353 (GRCm39) |
Y1007* |
probably null |
Het |
| Zfp423 |
T |
C |
8: 88,507,290 (GRCm39) |
H893R |
probably damaging |
Het |
| Zfp507 |
A |
G |
7: 35,493,927 (GRCm39) |
I372T |
probably damaging |
Het |
|
| Other mutations in Nuggc |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01403:Nuggc
|
APN |
14 |
65,860,635 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01413:Nuggc
|
APN |
14 |
65,876,030 (GRCm39) |
missense |
probably benign |
0.23 |
|
IGL02588:Nuggc
|
APN |
14 |
65,855,226 (GRCm39) |
splice site |
probably benign |
|
|
R0102:Nuggc
|
UTSW |
14 |
65,851,000 (GRCm39) |
missense |
probably null |
1.00 |
|
R0102:Nuggc
|
UTSW |
14 |
65,851,000 (GRCm39) |
missense |
probably null |
1.00 |
|
R0395:Nuggc
|
UTSW |
14 |
65,850,921 (GRCm39) |
nonsense |
probably null |
|
|
R0827:Nuggc
|
UTSW |
14 |
65,846,340 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1496:Nuggc
|
UTSW |
14 |
65,861,582 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1861:Nuggc
|
UTSW |
14 |
65,879,450 (GRCm39) |
splice site |
probably benign |
|
|
R1986:Nuggc
|
UTSW |
14 |
65,879,370 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1995:Nuggc
|
UTSW |
14 |
65,848,623 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2283:Nuggc
|
UTSW |
14 |
65,876,061 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R2317:Nuggc
|
UTSW |
14 |
65,861,591 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R3799:Nuggc
|
UTSW |
14 |
65,857,087 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3980:Nuggc
|
UTSW |
14 |
65,856,542 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4303:Nuggc
|
UTSW |
14 |
65,848,621 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R4431:Nuggc
|
UTSW |
14 |
65,848,659 (GRCm39) |
missense |
probably benign |
0.19 |
|
R4734:Nuggc
|
UTSW |
14 |
65,860,679 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5095:Nuggc
|
UTSW |
14 |
65,872,539 (GRCm39) |
nonsense |
probably null |
|
|
R5108:Nuggc
|
UTSW |
14 |
65,876,129 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5360:Nuggc
|
UTSW |
14 |
65,876,075 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5547:Nuggc
|
UTSW |
14 |
65,879,330 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R5636:Nuggc
|
UTSW |
14 |
65,885,637 (GRCm39) |
nonsense |
probably null |
|
|
R6494:Nuggc
|
UTSW |
14 |
65,885,671 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6922:Nuggc
|
UTSW |
14 |
65,855,092 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6971:Nuggc
|
UTSW |
14 |
65,846,305 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7124:Nuggc
|
UTSW |
14 |
65,846,251 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7273:Nuggc
|
UTSW |
14 |
65,857,057 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7282:Nuggc
|
UTSW |
14 |
65,855,072 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7578:Nuggc
|
UTSW |
14 |
65,885,623 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7670:Nuggc
|
UTSW |
14 |
65,850,975 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7780:Nuggc
|
UTSW |
14 |
65,882,490 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7871:Nuggc
|
UTSW |
14 |
65,860,700 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8250:Nuggc
|
UTSW |
14 |
65,879,318 (GRCm39) |
missense |
probably benign |
0.10 |
|
R8329:Nuggc
|
UTSW |
14 |
65,878,731 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8334:Nuggc
|
UTSW |
14 |
65,882,478 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8463:Nuggc
|
UTSW |
14 |
65,851,011 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8503:Nuggc
|
UTSW |
14 |
65,878,797 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8737:Nuggc
|
UTSW |
14 |
65,882,535 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8861:Nuggc
|
UTSW |
14 |
65,847,484 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8914:Nuggc
|
UTSW |
14 |
65,879,354 (GRCm39) |
missense |
probably benign |
|
|
R9573:Nuggc
|
UTSW |
14 |
65,848,603 (GRCm39) |
missense |
probably benign |
0.37 |
|
R9666:Nuggc
|
UTSW |
14 |
65,857,045 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R9792:Nuggc
|
UTSW |
14 |
65,847,345 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9793:Nuggc
|
UTSW |
14 |
65,847,345 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9795:Nuggc
|
UTSW |
14 |
65,847,345 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF019:Nuggc
|
UTSW |
14 |
65,885,713 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-10-07 |
Incidental Mutation