Incidental Mutation 'R6435:Nscme3l'
ID 518762
Institutional Source Beutler Lab
Gene Symbol Nscme3l
Ensembl Gene ENSMUSG00000100937
Gene Name NSE3 homolog, SMC5-SMC6 complex component like
Synonyms 1700020D05Rik
MMRRC Submission 044573-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.076) question?
Stock # R6435 (G1)
Quality Score 225.009
Status Validated
Chromosome 19
Chromosomal Location 5552795-5553815 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 5553446 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 112 (I112V)
Ref Sequence ENSEMBL: ENSMUSP00000140922 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070172] [ENSMUST00000189704]
AlphaFold Q99PB1
Predicted Effect probably benign
Transcript: ENSMUST00000070172
SMART Domains Protein: ENSMUSP00000070915
Gene: ENSMUSG00000056185

DomainStartEndE-ValueType
Pfam:PX 24 165 1.4e-19 PFAM
Pfam:Vps5 183 394 9.9e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000189704
AA Change: I112V

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000140922
Gene: ENSMUSG00000100937
AA Change: I112V

DomainStartEndE-ValueType
Pfam:MAGE 82 253 2.2e-57 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.2%
Validation Efficiency 100% (32/32)
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abl1 A T 2: 31,691,561 (GRCm39) T1027S possibly damaging Het
Ablim1 T C 19: 57,049,787 (GRCm39) I159V possibly damaging Het
Adcy1 A G 11: 7,111,367 (GRCm39) N886S possibly damaging Het
Baz1b G A 5: 135,266,799 (GRCm39) D1203N probably damaging Het
Chmp2a A T 7: 12,766,701 (GRCm39) Y72* probably null Het
Col6a1 A T 10: 76,546,957 (GRCm39) I755N unknown Het
Defa24 T A 8: 22,224,690 (GRCm39) F46L possibly damaging Het
Eml2 G A 7: 18,935,088 (GRCm39) V432I probably damaging Het
Gcn1 A T 5: 115,749,081 (GRCm39) probably null Het
Gfpt2 A G 11: 49,726,478 (GRCm39) S628G probably benign Het
Hsdl2 C A 4: 59,610,668 (GRCm39) Q222K unknown Het
Ighv1-9 T A 12: 114,547,206 (GRCm39) I111F probably benign Het
Itch G A 2: 155,051,049 (GRCm39) D579N probably benign Het
Jdp2 A T 12: 85,655,132 (GRCm39) K65M probably damaging Het
Kif15 A T 9: 122,815,556 (GRCm39) E222V probably damaging Het
Map1b A G 13: 99,652,871 (GRCm39) V42A probably damaging Het
Mecom T A 3: 30,034,398 (GRCm39) E426V probably damaging Het
Meiosin T C 7: 18,834,844 (GRCm39) probably benign Het
Mfsd6 G T 1: 52,748,603 (GRCm39) Y87* probably null Het
Mybpc2 A G 7: 44,155,481 (GRCm39) V924A possibly damaging Het
Naip6 A T 13: 100,431,249 (GRCm39) M1196K probably benign Het
Or52n5 A G 7: 104,588,041 (GRCm39) M103V probably damaging Het
Pcdh9 G A 14: 94,125,280 (GRCm39) P297S probably benign Het
Pold1 G A 7: 44,188,202 (GRCm39) R559C probably damaging Het
Rgs21 A G 1: 144,395,565 (GRCm39) F108L probably damaging Het
Runx1 A T 16: 92,441,183 (GRCm39) S209T possibly damaging Het
Sdccag8 G T 1: 176,642,428 (GRCm39) probably benign Het
Smc1b C T 15: 84,976,232 (GRCm39) R825Q probably benign Het
Srgap1 T C 10: 121,636,732 (GRCm39) D741G possibly damaging Het
Srsf11 C T 3: 157,728,981 (GRCm39) probably benign Homo
Tsc1 G A 2: 28,566,464 (GRCm39) V627M probably benign Het
Vmn2r106 C T 17: 20,488,725 (GRCm39) C558Y probably damaging Het
Zfp612 A G 8: 110,815,952 (GRCm39) I347M probably damaging Het
Other mutations in Nscme3l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02983:Nscme3l APN 19 5,553,209 (GRCm39) missense possibly damaging 0.46
IGL03285:Nscme3l APN 19 5,553,205 (GRCm39) missense probably damaging 1.00
R4445:Nscme3l UTSW 19 5,553,022 (GRCm39) missense probably damaging 1.00
R4804:Nscme3l UTSW 19 5,553,028 (GRCm39) missense possibly damaging 0.82
R5449:Nscme3l UTSW 19 5,553,292 (GRCm39) missense probably benign 0.44
R5542:Nscme3l UTSW 19 5,553,463 (GRCm39) missense probably damaging 0.99
R6476:Nscme3l UTSW 19 5,553,253 (GRCm39) missense probably damaging 1.00
R6764:Nscme3l UTSW 19 5,552,900 (GRCm39) missense probably damaging 1.00
R7102:Nscme3l UTSW 19 5,553,623 (GRCm39) missense probably benign 0.00
R7232:Nscme3l UTSW 19 5,553,659 (GRCm39) missense possibly damaging 0.87
R7541:Nscme3l UTSW 19 5,553,439 (GRCm39) missense probably benign 0.40
R7640:Nscme3l UTSW 19 5,553,035 (GRCm39) missense probably damaging 1.00
R9459:Nscme3l UTSW 19 5,553,757 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- ACCAGACATCGTTTTCTGGG -3'
(R):5'- AAGCTTTCGTCAGGTCCAG -3'

Sequencing Primer
(F):5'- GTGGCCATTCATTAAGATGAGCCC -3'
(R):5'- TTTCGTCAGGTCCAGGCCAC -3'
Posted On 2018-05-24