Incidental Mutation 'R8250:Nuggc'
ID 640298
Institutional Source Beutler Lab
Gene Symbol Nuggc
Ensembl Gene ENSMUSG00000061356
Gene Name nuclear GTPase, germinal center associated
Synonyms SLIP-GC, Gm600, LOC239151
MMRRC Submission 067676-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.088) question?
Stock # R8250 (G1)
Quality Score 225.009
Status Not validated
Chromosome 14
Chromosomal Location 65835995-65885980 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 65879318 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 693 (I693V)
Ref Sequence ENSEMBL: ENSMUSP00000078434 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079469] [ENSMUST00000150897]
AlphaFold D3YWJ0
Predicted Effect probably benign
Transcript: ENSMUST00000079469
AA Change: I693V

PolyPhen 2 Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000078434
Gene: ENSMUSG00000061356
AA Change: I693V

DomainStartEndE-ValueType
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: I677V

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000118402
Gene: ENSMUSG00000061356
AA Change: I677V

DomainStartEndE-ValueType
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: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.5%
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl1 A T 4: 86,260,846 (GRCm39) E1027V probably damaging Het
Agbl2 G A 2: 90,627,908 (GRCm39) G238R probably damaging Het
Bltp1 T C 3: 36,971,811 (GRCm39) S515P probably damaging Het
Ccdc27 A T 4: 154,126,245 (GRCm39) D81E unknown Het
Csrnp3 A G 2: 65,852,562 (GRCm39) E330G probably damaging Het
Dcp1a A G 14: 30,244,883 (GRCm39) T570A possibly damaging Het
Fat1 A G 8: 45,406,336 (GRCm39) N1029S probably damaging Het
Ftcd T G 10: 76,417,461 (GRCm39) I300R probably damaging Het
Fxr1 T A 3: 34,101,178 (GRCm39) Y161* probably null Het
Gabrg2 C T 11: 41,858,379 (GRCm39) V250I probably benign Het
Gmcl1 T C 6: 86,698,384 (GRCm39) D171G possibly damaging Het
Grk2 A G 19: 4,339,962 (GRCm39) F375S probably damaging Het
Kat2b T A 17: 53,970,564 (GRCm39) I650N probably damaging Het
Lhfpl6 T C 3: 52,950,759 (GRCm39) I11T probably benign Het
Mbtd1 A G 11: 93,801,176 (GRCm39) Y141C probably damaging Het
Mon1b A T 8: 114,366,351 (GRCm39) E449V probably damaging Het
Mrpl47 T C 3: 32,785,382 (GRCm39) N112S probably damaging Het
Myo9a T A 9: 59,767,392 (GRCm39) H865Q probably damaging Het
Notch3 T C 17: 32,351,310 (GRCm39) N1895S probably damaging Het
Oip5 A G 2: 119,446,110 (GRCm39) S133P probably benign Het
Opcml A G 9: 28,586,566 (GRCm39) I95V probably damaging Het
Or10v1 A T 19: 11,873,741 (GRCm39) M119L probably damaging Het
Or52l1 T C 7: 104,830,518 (GRCm39) M16V Het
Or8k20 T C 2: 86,106,498 (GRCm39) E111G probably damaging Het
P2rx3 A C 2: 84,852,735 (GRCm39) V221G probably damaging Het
Prr27 A G 5: 87,990,556 (GRCm39) N56S possibly damaging Het
Psmd11 T C 11: 80,336,752 (GRCm39) S135P possibly damaging Het
Rftn1 G T 17: 50,354,408 (GRCm39) A318D probably damaging Het
Sall3 T C 18: 81,016,743 (GRCm39) D395G probably benign Het
Scube2 T C 7: 109,463,377 (GRCm39) N62S probably benign Het
Sema6a A T 18: 47,423,182 (GRCm39) S275T probably damaging Het
Sirpb1a A T 3: 15,444,104 (GRCm39) L382Q possibly damaging Het
Snrpn T A 7: 59,636,633 (GRCm39) probably null Het
Sox5 A T 6: 144,100,777 (GRCm39) S71T possibly damaging Het
Synpo2l G T 14: 20,712,344 (GRCm39) T321K probably benign Het
Tex15 G A 8: 34,055,233 (GRCm39) E285K probably null Het
Tmem126b G A 7: 90,118,317 (GRCm39) L188F probably damaging Het
Ttll2 T C 17: 7,618,767 (GRCm39) T387A probably benign Het
Ttn A G 2: 76,667,155 (GRCm39) Y11484H unknown Het
Vmn2r76 T A 7: 85,875,231 (GRCm39) Y582F possibly damaging Het
Zfp786 A T 6: 47,797,729 (GRCm39) L403Q possibly damaging Het
Other mutations in Nuggc
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- ACCTGCTTGATTCAGTCAGTC -3'
(R):5'- GATGGCATCCAGCTCTACTG -3'

Sequencing Primer
(F):5'- CTGCTTGATTCAGTCAGTCCTTAGG -3'
(R):5'- GGCCCAGCTGTCTACCATCTG -3'
Posted On 2020-07-28