Incidental Mutation 'R2317:Nuggc'
| ID |
245538 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nuggc
|
| Ensembl Gene |
ENSMUSG00000061356 |
| Gene Name |
nuclear GTPase, germinal center associated |
| Synonyms |
Gm600, SLIP-GC, LOC239151 |
| MMRRC Submission |
040312-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.070)
|
| Stock # |
R2317 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
65598546-65648531 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 65624142 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 479
(E479G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118402
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079469]
[ENSMUST00000150897]
|
| AlphaFold |
D3YWJ0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000079469
AA Change: E495G
PolyPhen 2
Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000078434
Gene: ENSMUSG00000061356
AA Change: E495G
| 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 |
possibly damaging
Transcript: ENSMUST00000150897
AA Change: E479G
PolyPhen 2
Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000118402
Gene: ENSMUSG00000061356
AA Change: E479G
| 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 |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.0%
|
| 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: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ccdc102a |
T |
C |
8: 94,908,329 (GRCm38) |
D327G |
probably null |
Het |
| Cdh15 |
G |
A |
8: 122,856,635 (GRCm38) |
R59H |
probably benign |
Het |
| Cfap126 |
A |
G |
1: 171,126,131 (GRCm38) |
D134G |
possibly damaging |
Het |
| Cript |
T |
C |
17: 87,027,711 (GRCm38) |
L19P |
probably benign |
Het |
| Cwf19l1 |
A |
C |
19: 44,132,158 (GRCm38) |
L39V |
possibly damaging |
Het |
| Eif2b4 |
T |
C |
5: 31,191,576 (GRCm38) |
|
probably null |
Het |
| Esp16 |
A |
G |
17: 39,539,847 (GRCm38) |
N39S |
probably benign |
Het |
| Fbxo30 |
A |
G |
10: 11,290,334 (GRCm38) |
N267D |
probably damaging |
Het |
| Gabra6 |
T |
C |
11: 42,317,780 (GRCm38) |
|
probably null |
Het |
| Gp1ba |
A |
G |
11: 70,640,647 (GRCm38) |
|
probably benign |
Het |
| Klf12 |
C |
T |
14: 99,942,067 (GRCm38) |
R279Q |
probably benign |
Het |
| Lats1 |
C |
T |
10: 7,691,776 (GRCm38) |
Q104* |
probably null |
Het |
| Myrfl |
A |
G |
10: 116,839,384 (GRCm38) |
Y215H |
possibly damaging |
Het |
| Ncoa1 |
A |
G |
12: 4,275,189 (GRCm38) |
I963T |
probably damaging |
Het |
| Neurod6 |
A |
G |
6: 55,678,921 (GRCm38) |
Y244H |
probably damaging |
Het |
| Nodal |
T |
C |
10: 61,418,433 (GRCm38) |
M45T |
possibly damaging |
Het |
| Pdcd6ip |
T |
C |
9: 113,672,774 (GRCm38) |
D467G |
probably benign |
Het |
| Pnmt |
C |
A |
11: 98,386,851 (GRCm38) |
Q74K |
probably benign |
Het |
| Slc25a36 |
G |
A |
9: 97,079,182 (GRCm38) |
T267I |
probably damaging |
Het |
| Slc35e3 |
A |
G |
10: 117,744,899 (GRCm38) |
S167P |
probably damaging |
Het |
| Sprr2f |
C |
A |
3: 92,366,083 (GRCm38) |
P63H |
unknown |
Het |
| Stt3a |
T |
C |
9: 36,748,075 (GRCm38) |
I323V |
probably benign |
Het |
| Tedc2 |
A |
G |
17: 24,216,384 (GRCm38) |
S344P |
probably benign |
Het |
| Unc13b |
A |
G |
4: 43,245,514 (GRCm38) |
D3722G |
probably damaging |
Het |
| Zfp35 |
T |
C |
18: 24,003,498 (GRCm38) |
Y300H |
probably damaging |
Het |
| Zfp959 |
A |
G |
17: 55,897,326 (GRCm38) |
D121G |
possibly damaging |
Het |
|
| Other mutations in Nuggc |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01359:Nuggc
|
APN |
14 |
65,623,207 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01403:Nuggc
|
APN |
14 |
65,623,186 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL01413:Nuggc
|
APN |
14 |
65,638,581 (GRCm38) |
missense |
probably benign |
0.23 |
|
IGL02588:Nuggc
|
APN |
14 |
65,617,777 (GRCm38) |
splice site |
probably benign |
|
|
R0102:Nuggc
|
UTSW |
14 |
65,613,551 (GRCm38) |
missense |
probably null |
1.00 |
|
R0102:Nuggc
|
UTSW |
14 |
65,613,551 (GRCm38) |
missense |
probably null |
1.00 |
|
R0395:Nuggc
|
UTSW |
14 |
65,613,472 (GRCm38) |
nonsense |
probably null |
|
|
R0827:Nuggc
|
UTSW |
14 |
65,608,891 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1496:Nuggc
|
UTSW |
14 |
65,624,133 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R1861:Nuggc
|
UTSW |
14 |
65,642,001 (GRCm38) |
splice site |
probably benign |
|
|
R1986:Nuggc
|
UTSW |
14 |
65,641,921 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R1995:Nuggc
|
UTSW |
14 |
65,611,174 (GRCm38) |
missense |
probably benign |
0.02 |
|
R2283:Nuggc
|
UTSW |
14 |
65,638,612 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R3799:Nuggc
|
UTSW |
14 |
65,619,638 (GRCm38) |
missense |
probably benign |
0.00 |
|
R3980:Nuggc
|
UTSW |
14 |
65,619,093 (GRCm38) |
critical splice donor site |
probably null |
|
|
R4303:Nuggc
|
UTSW |
14 |
65,611,172 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
R4431:Nuggc
|
UTSW |
14 |
65,611,210 (GRCm38) |
missense |
probably benign |
0.19 |
|
R4734:Nuggc
|
UTSW |
14 |
65,623,230 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5095:Nuggc
|
UTSW |
14 |
65,635,090 (GRCm38) |
nonsense |
probably null |
|
|
R5108:Nuggc
|
UTSW |
14 |
65,638,680 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5360:Nuggc
|
UTSW |
14 |
65,638,626 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5547:Nuggc
|
UTSW |
14 |
65,641,881 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R5636:Nuggc
|
UTSW |
14 |
65,648,188 (GRCm38) |
nonsense |
probably null |
|
|
R6494:Nuggc
|
UTSW |
14 |
65,648,222 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6922:Nuggc
|
UTSW |
14 |
65,617,643 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6971:Nuggc
|
UTSW |
14 |
65,608,856 (GRCm38) |
missense |
probably benign |
0.04 |
|
R7124:Nuggc
|
UTSW |
14 |
65,608,802 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7273:Nuggc
|
UTSW |
14 |
65,619,608 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7282:Nuggc
|
UTSW |
14 |
65,617,623 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7578:Nuggc
|
UTSW |
14 |
65,648,174 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7670:Nuggc
|
UTSW |
14 |
65,613,526 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7780:Nuggc
|
UTSW |
14 |
65,645,041 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7871:Nuggc
|
UTSW |
14 |
65,623,251 (GRCm38) |
missense |
probably benign |
0.01 |
|
R8250:Nuggc
|
UTSW |
14 |
65,641,869 (GRCm38) |
missense |
probably benign |
0.10 |
|
R8329:Nuggc
|
UTSW |
14 |
65,641,282 (GRCm38) |
missense |
probably benign |
0.01 |
|
R8334:Nuggc
|
UTSW |
14 |
65,645,029 (GRCm38) |
missense |
probably benign |
0.04 |
|
R8463:Nuggc
|
UTSW |
14 |
65,613,562 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8503:Nuggc
|
UTSW |
14 |
65,641,348 (GRCm38) |
critical splice donor site |
probably null |
|
|
R8737:Nuggc
|
UTSW |
14 |
65,645,086 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8861:Nuggc
|
UTSW |
14 |
65,610,035 (GRCm38) |
critical splice donor site |
probably null |
|
|
R8914:Nuggc
|
UTSW |
14 |
65,641,905 (GRCm38) |
missense |
probably benign |
|
|
R9573:Nuggc
|
UTSW |
14 |
65,611,154 (GRCm38) |
missense |
probably benign |
0.37 |
|
R9666:Nuggc
|
UTSW |
14 |
65,619,596 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
R9792:Nuggc
|
UTSW |
14 |
65,609,896 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9793:Nuggc
|
UTSW |
14 |
65,609,896 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9795:Nuggc
|
UTSW |
14 |
65,609,896 (GRCm38) |
missense |
probably damaging |
1.00 |
|
RF019:Nuggc
|
UTSW |
14 |
65,648,264 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGCAACTGTTTCATTGACTTCC -3'
(R):5'- TCCTAACTTACAGTTGCACAGG -3'
Sequencing Primer
(F):5'- CAACTGTTTCATTGACTTCCTTTATG -3'
(R):5'- GTGAGACAACCCAGGAGCCTTC -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation