Incidental Mutation 'R1995:Nuggc'
ID |
225703 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nuggc
|
Ensembl Gene |
ENSMUSG00000061356 |
Gene Name |
nuclear GTPase, germinal center associated |
Synonyms |
SLIP-GC, Gm600, LOC239151 |
MMRRC Submission |
040005-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.088)
|
Stock # |
R1995 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
14 |
Chromosomal Location |
65835995-65885980 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 65848623 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Glycine
at position 175
(R175G)
|
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: R191G
PolyPhen 2
Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000078434 Gene: ENSMUSG00000061356 AA Change: R191G
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: R175G
PolyPhen 2
Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000118402 Gene: ENSMUSG00000061356 AA Change: R175G
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: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.7%
|
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: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Agtpbp1 |
T |
G |
13: 59,678,872 (GRCm39) |
K145N |
probably damaging |
Het |
AY358078 |
T |
A |
14: 52,063,519 (GRCm39) |
D388E |
probably damaging |
Het |
Btbd9 |
A |
G |
17: 30,493,904 (GRCm39) |
Y496H |
possibly damaging |
Het |
Catsperb |
T |
A |
12: 101,569,026 (GRCm39) |
N899K |
possibly damaging |
Het |
Cenpl |
T |
C |
1: 160,905,994 (GRCm39) |
S123P |
probably damaging |
Het |
Cep120 |
G |
A |
18: 53,873,208 (GRCm39) |
T41I |
probably damaging |
Het |
Cep295 |
C |
T |
9: 15,252,179 (GRCm39) |
E397K |
probably damaging |
Het |
Cnbd1 |
G |
A |
4: 19,055,112 (GRCm39) |
P105S |
possibly damaging |
Het |
Col6a1 |
T |
C |
10: 76,557,790 (GRCm39) |
N149D |
probably damaging |
Het |
Ctnna3 |
T |
A |
10: 63,656,143 (GRCm39) |
V241D |
probably damaging |
Het |
Dcbld2 |
A |
C |
16: 58,276,695 (GRCm39) |
E495D |
probably benign |
Het |
Dmp1 |
T |
G |
5: 104,357,779 (GRCm39) |
S40A |
possibly damaging |
Het |
Dpysl4 |
A |
G |
7: 138,676,686 (GRCm39) |
I379V |
probably benign |
Het |
Eral1 |
C |
T |
11: 77,965,315 (GRCm39) |
G367S |
probably benign |
Het |
Fah |
C |
T |
7: 84,251,389 (GRCm39) |
R31Q |
probably damaging |
Het |
Fbn1 |
T |
A |
2: 125,192,293 (GRCm39) |
|
probably null |
Het |
Fbxo40 |
T |
C |
16: 36,790,231 (GRCm39) |
D293G |
probably damaging |
Het |
Gemin6 |
A |
C |
17: 80,535,414 (GRCm39) |
T125P |
probably damaging |
Het |
Gpbar1 |
G |
A |
1: 74,318,603 (GRCm39) |
G282D |
possibly damaging |
Het |
Gria2 |
G |
A |
3: 80,709,664 (GRCm39) |
L10F |
probably benign |
Het |
Gucy1b1 |
A |
G |
3: 81,942,160 (GRCm39) |
I533T |
probably damaging |
Het |
H2-M9 |
A |
T |
17: 36,952,678 (GRCm39) |
Y123N |
probably damaging |
Het |
Hipk2 |
C |
A |
6: 38,692,909 (GRCm39) |
D868Y |
probably damaging |
Het |
Itprid1 |
T |
C |
6: 55,945,694 (GRCm39) |
I805T |
probably benign |
Het |
Jarid2 |
T |
C |
13: 45,027,917 (GRCm39) |
L123P |
probably damaging |
Het |
Kcnb2 |
C |
A |
1: 15,779,990 (GRCm39) |
N287K |
possibly damaging |
Het |
Kdm8 |
G |
A |
7: 125,051,511 (GRCm39) |
G35S |
probably benign |
Het |
Kirrel1 |
G |
T |
3: 87,003,093 (GRCm39) |
A100D |
possibly damaging |
Het |
Ltbp2 |
T |
G |
12: 84,855,220 (GRCm39) |
|
probably null |
Het |
Mfsd12 |
C |
A |
10: 81,193,515 (GRCm39) |
H28Q |
probably damaging |
Het |
Neb |
C |
T |
2: 52,188,744 (GRCm39) |
V837M |
probably damaging |
Het |
Nkain2 |
A |
G |
10: 32,278,347 (GRCm39) |
I26T |
possibly damaging |
Het |
Or10ag57 |
T |
G |
2: 87,218,175 (GRCm39) |
I42R |
probably damaging |
Het |
Or5ac23 |
A |
G |
16: 59,149,654 (GRCm39) |
S73P |
probably damaging |
Het |
Or5d35 |
T |
A |
2: 87,856,016 (GRCm39) |
S317T |
probably benign |
Het |
Or8g52 |
T |
C |
9: 39,630,709 (GRCm39) |
F62S |
probably damaging |
Het |
Pcnt |
G |
A |
10: 76,228,633 (GRCm39) |
Q1511* |
probably null |
Het |
Piezo2 |
G |
T |
18: 63,211,852 (GRCm39) |
T1311K |
probably damaging |
Het |
Pik3c2a |
T |
C |
7: 115,953,241 (GRCm39) |
Y1218C |
probably damaging |
Het |
Pik3r4 |
T |
A |
9: 105,546,364 (GRCm39) |
S905T |
probably benign |
Het |
Pikfyve |
T |
A |
1: 65,285,867 (GRCm39) |
D1035E |
probably damaging |
Het |
Pkn3 |
G |
C |
2: 29,979,989 (GRCm39) |
G744A |
probably damaging |
Het |
Pms1 |
A |
G |
1: 53,234,174 (GRCm39) |
S781P |
probably benign |
Het |
Pogz |
C |
T |
3: 94,785,255 (GRCm39) |
R793W |
probably damaging |
Het |
Prrc2a |
A |
T |
17: 35,376,405 (GRCm39) |
V795D |
probably damaging |
Het |
Rock1 |
G |
A |
18: 10,101,026 (GRCm39) |
R630* |
probably null |
Het |
Scd4 |
T |
A |
19: 44,322,617 (GRCm39) |
I70N |
possibly damaging |
Het |
Serpine2 |
A |
G |
1: 79,799,159 (GRCm39) |
S32P |
probably damaging |
Het |
Slc9c1 |
A |
C |
16: 45,374,618 (GRCm39) |
T328P |
probably damaging |
Het |
Spata31d1b |
G |
C |
13: 59,864,194 (GRCm39) |
L447F |
probably benign |
Het |
Speer2 |
A |
G |
16: 69,654,965 (GRCm39) |
S167P |
probably benign |
Het |
Sphkap |
G |
A |
1: 83,255,236 (GRCm39) |
R838* |
probably null |
Het |
Tbcel |
C |
A |
9: 42,362,957 (GRCm39) |
G29W |
probably damaging |
Het |
Tmcc3 |
T |
C |
10: 94,414,468 (GRCm39) |
S57P |
possibly damaging |
Het |
Tmem240 |
T |
A |
4: 155,824,304 (GRCm39) |
D125E |
possibly damaging |
Het |
Ttll7 |
G |
A |
3: 146,667,510 (GRCm39) |
C792Y |
possibly damaging |
Het |
Vmn1r177 |
T |
A |
7: 23,565,112 (GRCm39) |
I255F |
probably damaging |
Het |
Zp2 |
T |
A |
7: 119,734,388 (GRCm39) |
I554F |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GTTTAGGTTTCTGCTTGCAACC -3'
(R):5'- GGACAACTCCCCTGGATAGATTC -3'
Sequencing Primer
(F):5'- TGCTTGCAACCTCCGGC -3'
(R):5'- ACTCCCCTGGATAGATTCAAGTG -3'
|
Posted On |
2014-08-25 |