Incidental Mutation 'R4431:Nuggc'
| ID |
328627 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nuggc
|
| Ensembl Gene |
ENSMUSG00000061356 |
| Gene Name |
nuclear GTPase, germinal center associated |
| Synonyms |
SLIP-GC, Gm600, LOC239151 |
| MMRRC Submission |
041146-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.071)
|
| Stock # |
R4431 (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 65848659 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 187
(W187R)
|
| 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: W203R
PolyPhen 2
Score 0.187 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000078434
Gene: ENSMUSG00000061356
AA Change: W203R
| 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: W187R
PolyPhen 2
Score 0.187 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000118402
Gene: ENSMUSG00000061356
AA Change: W187R
| 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 |
0.1159 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
| Validation Efficiency |
100% (52/52) |
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 0610040J01Rik |
G |
T |
5: 64,056,182 (GRCm39) |
|
probably benign |
Het |
| 2510039O18Rik |
T |
C |
4: 148,026,022 (GRCm39) |
S181P |
probably benign |
Het |
| 4930522L14Rik |
A |
T |
5: 109,884,440 (GRCm39) |
C473S |
possibly damaging |
Het |
| 4930523C07Rik |
A |
T |
1: 159,872,149 (GRCm39) |
|
noncoding transcript |
Het |
| Aak1 |
A |
G |
6: 86,963,300 (GRCm39) |
K910R |
unknown |
Het |
| Abca2 |
A |
G |
2: 25,332,864 (GRCm39) |
D1521G |
probably benign |
Het |
| Adamts20 |
C |
A |
15: 94,241,924 (GRCm39) |
D695Y |
probably damaging |
Het |
| Bag4 |
C |
T |
8: 26,259,516 (GRCm39) |
A228T |
probably benign |
Het |
| Bltp3a |
A |
G |
17: 28,104,905 (GRCm39) |
N533S |
probably damaging |
Het |
| Bspry |
T |
A |
4: 62,400,904 (GRCm39) |
I132N |
possibly damaging |
Het |
| Cfap300 |
A |
G |
9: 8,027,178 (GRCm39) |
V120A |
probably damaging |
Het |
| Cfh |
T |
C |
1: 140,064,004 (GRCm39) |
Y424C |
probably damaging |
Het |
| Chd2 |
T |
C |
7: 73,085,709 (GRCm39) |
R1642G |
possibly damaging |
Het |
| Chrm2 |
A |
G |
6: 36,501,097 (GRCm39) |
D318G |
probably benign |
Het |
| Chrna4 |
A |
G |
2: 180,670,413 (GRCm39) |
S448P |
probably damaging |
Het |
| Cldn8 |
A |
C |
16: 88,359,619 (GRCm39) |
M102R |
probably damaging |
Het |
| Dock8 |
T |
C |
19: 25,042,754 (GRCm39) |
V112A |
probably benign |
Het |
| Fbxo42 |
C |
A |
4: 140,927,861 (GRCm39) |
R714S |
probably damaging |
Het |
| Fmo1 |
G |
A |
1: 162,661,281 (GRCm39) |
A334V |
possibly damaging |
Het |
| Gpr68 |
A |
T |
12: 100,865,650 (GRCm39) |
|
probably benign |
Het |
| Gramd4 |
A |
G |
15: 86,014,361 (GRCm39) |
K345R |
probably damaging |
Het |
| Gtpbp1 |
T |
G |
15: 79,600,398 (GRCm39) |
S444A |
probably damaging |
Het |
| Ints12 |
T |
C |
3: 132,808,242 (GRCm39) |
Y207H |
probably damaging |
Het |
| Kat2b-ps |
A |
T |
5: 93,540,443 (GRCm39) |
|
noncoding transcript |
Het |
| Klhl25 |
T |
A |
7: 75,515,162 (GRCm39) |
F23I |
probably damaging |
Het |
| Lamc1 |
A |
G |
1: 153,097,274 (GRCm39) |
I1590T |
probably damaging |
Het |
| Lhfpl4 |
A |
G |
6: 113,170,805 (GRCm39) |
I127T |
possibly damaging |
Het |
| Lrrc71 |
A |
G |
3: 87,650,143 (GRCm39) |
S286P |
possibly damaging |
Het |
| Man1c1 |
A |
T |
4: 134,430,329 (GRCm39) |
V151D |
probably damaging |
Het |
| Mipol1 |
G |
A |
12: 57,350,310 (GRCm39) |
R36Q |
possibly damaging |
Het |
| Or4a71 |
A |
G |
2: 89,357,987 (GRCm39) |
Y256H |
probably damaging |
Het |
| Pkhd1 |
G |
A |
1: 20,593,538 (GRCm39) |
T1525I |
probably damaging |
Het |
| Pomp |
A |
G |
5: 147,812,289 (GRCm39) |
E125G |
probably damaging |
Het |
| Ptar1 |
G |
T |
19: 23,671,695 (GRCm39) |
G33C |
probably damaging |
Het |
| Ptpn3 |
A |
G |
4: 57,235,355 (GRCm39) |
S335P |
probably damaging |
Het |
| Pus7 |
A |
G |
5: 23,951,487 (GRCm39) |
Y521H |
probably benign |
Het |
| Shank1 |
C |
T |
7: 43,969,076 (GRCm39) |
R324* |
probably null |
Het |
| Slc12a3 |
A |
T |
8: 95,069,713 (GRCm39) |
I541F |
probably damaging |
Het |
| Slc12a9 |
G |
A |
5: 137,319,775 (GRCm39) |
P580L |
probably benign |
Het |
| Spz1 |
A |
G |
13: 92,711,837 (GRCm39) |
L213P |
probably damaging |
Het |
| Strn |
A |
G |
17: 79,043,891 (GRCm39) |
V9A |
probably damaging |
Het |
| Sytl5 |
A |
T |
X: 9,826,262 (GRCm39) |
N412Y |
probably damaging |
Het |
| Tert |
T |
A |
13: 73,775,594 (GRCm39) |
F115Y |
probably damaging |
Het |
| Tmem67 |
T |
A |
4: 12,051,473 (GRCm39) |
N785I |
possibly damaging |
Het |
| Trf |
T |
C |
9: 103,089,075 (GRCm39) |
N243S |
possibly damaging |
Het |
| Ttc3 |
T |
C |
16: 94,211,817 (GRCm39) |
|
probably null |
Het |
| Vmn2r22 |
T |
C |
6: 123,614,817 (GRCm39) |
T258A |
possibly damaging |
Het |
| Vps13b |
A |
C |
15: 35,770,899 (GRCm39) |
Q2114P |
probably damaging |
Het |
| Wdfy1 |
T |
A |
1: 79,691,583 (GRCm39) |
R275* |
probably null |
Het |
| Wnt2b |
A |
G |
3: 104,860,256 (GRCm39) |
L217S |
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 |
|
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 |
|
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'- AGGTTTCTGCTTGCAACCTC -3'
(R):5'- TTGGACAACTCCCCTGGATAG -3'
Sequencing Primer
(F):5'- GCTTGCAACCTCCGGCC -3'
(R):5'- ACTCCCCTGGATAGATTCAAGTG -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation