Incidental Mutation 'R3799:Nuggc'
ID |
272894 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nuggc
|
Ensembl Gene |
ENSMUSG00000061356 |
Gene Name |
nuclear GTPase, germinal center associated |
Synonyms |
SLIP-GC, Gm600, LOC239151 |
MMRRC Submission |
040877-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.071)
|
Stock # |
R3799 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
14 |
Chromosomal Location |
65835995-65885980 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 65857087 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 396
(M396K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000118402
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079469]
[ENSMUST00000150897]
|
AlphaFold |
D3YWJ0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000079469
AA Change: M412K
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000078434 Gene: ENSMUSG00000061356 AA Change: M412K
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 benign
Transcript: ENSMUST00000150897
AA Change: M396K
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000118402 Gene: ENSMUSG00000061356 AA Change: M396K
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 |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
Validation Efficiency |
97% (35/36) |
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: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A3galt2 |
A |
G |
4: 128,660,863 (GRCm39) |
T140A |
probably damaging |
Het |
Adgrf3 |
T |
C |
5: 30,401,821 (GRCm39) |
I736V |
possibly damaging |
Het |
Alpk3 |
C |
A |
7: 80,742,501 (GRCm39) |
P773T |
probably benign |
Het |
Ccna1 |
G |
T |
3: 54,958,040 (GRCm39) |
T155K |
probably benign |
Het |
Cops7a |
C |
T |
6: 124,936,795 (GRCm39) |
R252H |
probably damaging |
Het |
Dnah12 |
T |
C |
14: 26,492,880 (GRCm39) |
W1214R |
probably damaging |
Het |
Ehbp1l1 |
A |
G |
19: 5,769,143 (GRCm39) |
V720A |
probably benign |
Het |
Exog |
T |
G |
9: 119,278,876 (GRCm39) |
N186K |
probably damaging |
Het |
Fgfr1 |
G |
A |
8: 26,062,453 (GRCm39) |
D663N |
probably damaging |
Het |
Flnc |
G |
A |
6: 29,443,738 (GRCm39) |
V587M |
probably damaging |
Het |
Gm1527 |
A |
G |
3: 28,980,745 (GRCm39) |
N615S |
possibly damaging |
Het |
Gm5799 |
G |
A |
14: 43,781,150 (GRCm39) |
G17E |
probably damaging |
Het |
Hjurp |
G |
C |
1: 88,204,937 (GRCm39) |
|
probably benign |
Het |
Mastl |
T |
C |
2: 23,030,504 (GRCm39) |
|
probably benign |
Het |
Mogat1 |
A |
G |
1: 78,505,775 (GRCm39) |
I216V |
probably benign |
Het |
Nans |
A |
G |
4: 46,492,839 (GRCm39) |
E89G |
probably benign |
Het |
Nup214 |
T |
C |
2: 31,924,694 (GRCm39) |
F236S |
probably damaging |
Het |
Osbp2 |
T |
C |
11: 3,667,883 (GRCm39) |
E145G |
probably damaging |
Het |
Paqr3 |
T |
C |
5: 97,259,175 (GRCm39) |
N43S |
probably damaging |
Het |
Pard3b |
A |
G |
1: 62,200,388 (GRCm39) |
N309S |
probably benign |
Het |
Phrf1 |
C |
T |
7: 140,839,831 (GRCm39) |
R243* |
probably null |
Het |
Ralgapa1 |
T |
C |
12: 55,705,915 (GRCm39) |
Y1869C |
probably damaging |
Het |
Setd2 |
T |
C |
9: 110,378,639 (GRCm39) |
V818A |
probably benign |
Het |
Slc35g3 |
A |
G |
11: 69,651,743 (GRCm39) |
F103L |
probably benign |
Het |
Tcaf3 |
T |
C |
6: 42,574,014 (GRCm39) |
E66G |
probably damaging |
Het |
Tdpoz8 |
A |
T |
3: 92,981,393 (GRCm39) |
D137V |
probably damaging |
Het |
Tmem8b |
A |
G |
4: 43,673,892 (GRCm39) |
|
probably benign |
Het |
Trpa1 |
T |
C |
1: 14,963,488 (GRCm39) |
N578S |
possibly damaging |
Het |
Vmn2r25 |
A |
T |
6: 123,830,143 (GRCm39) |
L3I |
probably benign |
Het |
Vmn2r76 |
T |
C |
7: 85,875,244 (GRCm39) |
T578A |
probably benign |
Het |
Vwa8 |
T |
A |
14: 79,302,336 (GRCm39) |
F1002I |
probably damaging |
Het |
Xdh |
T |
C |
17: 74,214,653 (GRCm39) |
E764G |
probably damaging |
Het |
Zfp518a |
G |
T |
19: 40,903,754 (GRCm39) |
V1228F |
probably damaging |
Het |
|
Other mutations in Nuggc |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01359:Nuggc
|
APN |
14 |
65,860,656 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGGTGGTACATAATCCTGTAAAGC -3'
(R):5'- TACCCTTGGGAAGCACAATTG -3'
Sequencing Primer
(F):5'- AGCAACACTTGAGCTTCTGG -3'
(R):5'- CATGAGGGAGATGGCACTATTTTAC -3'
|
Posted On |
2015-03-25 |