Incidental Mutation 'R8681:Nsmce2'
ID 661771
Institutional Source Beutler Lab
Gene Symbol Nsmce2
Ensembl Gene ENSMUSG00000059586
Gene Name NSE2/MMS21 homolog, SMC5-SMC6 complex SUMO ligase
Synonyms 1110014D18Rik
MMRRC Submission 068536-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8681 (G1)
Quality Score 225.009
Status Not validated
Chromosome 15
Chromosomal Location 59246096-59473533 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 59473208 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 216 (S216G)
Ref Sequence ENSEMBL: ENSMUSP00000078641 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079703] [ENSMUST00000227173]
AlphaFold Q91VT1
Predicted Effect probably benign
Transcript: ENSMUST00000079703
AA Change: S216G

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000078641
Gene: ENSMUSG00000059586
AA Change: S216G

DomainStartEndE-ValueType
low complexity region 3 13 N/A INTRINSIC
Pfam:zf-Nse 156 216 1.4e-21 PFAM
Pfam:U-box 165 244 1.3e-7 PFAM
Pfam:zf-RING_UBOX 169 211 1.6e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000227173
AA Change: S242G

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.2%
  • 20x: 97.0%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a null allele display early embryonic lethality. Heterozygous null mice display reduced lifespans with increased tumor formation. Homozygous and heterozygous null mice display impaired mitotic segregation and elevated mitotic recombination. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc12 A G 8: 87,231,908 (GRCm39) V1347A possibly damaging Het
Adam32 G A 8: 25,327,811 (GRCm39) T750I unknown Het
Adcy1 T C 11: 7,111,328 (GRCm39) I873T probably damaging Het
Aebp1 A G 11: 5,817,899 (GRCm39) D438G probably null Het
Anks1b T A 10: 89,885,868 (GRCm39) M188K probably damaging Het
Aopep T C 13: 63,338,373 (GRCm39) F583S probably damaging Het
Arhgef18 A G 8: 3,439,074 (GRCm39) Y477C unknown Het
Cep112 T C 11: 108,316,478 (GRCm39) probably null Het
Clu T C 14: 66,218,406 (GRCm39) V422A probably damaging Het
Cntrl T C 2: 35,038,600 (GRCm39) L1050P probably damaging Het
Col23a1 A T 11: 51,458,756 (GRCm39) T298S possibly damaging Het
Cyp26c1 A T 19: 37,675,065 (GRCm39) T129S probably damaging Het
Cyp2c38 A C 19: 39,390,135 (GRCm39) V355G possibly damaging Het
Cyp4a30b G A 4: 115,314,942 (GRCm39) V175M possibly damaging Het
Cyp7a1 A T 4: 6,271,207 (GRCm39) N316K probably benign Het
Dcaf17 T A 2: 70,886,913 (GRCm39) Y67* probably null Het
Dll3 T C 7: 27,994,270 (GRCm39) D389G probably damaging Het
Fbxo33 A G 12: 59,265,830 (GRCm39) F146L probably benign Het
Gm10118 C T 10: 63,762,756 (GRCm39) V61M unknown Het
Gm9611 T C 14: 42,118,026 (GRCm39) D102G Het
Grik5 G A 7: 24,709,897 (GRCm39) A946V probably benign Het
Il17c A G 8: 123,150,207 (GRCm39) D150G possibly damaging Het
Ino80e A G 7: 126,460,893 (GRCm39) L22P probably damaging Het
Kcnh2 G T 5: 24,536,981 (GRCm39) T201K probably benign Het
Klrb1 A C 6: 128,687,012 (GRCm39) N173K possibly damaging Het
Kmt2d T A 15: 98,743,948 (GRCm39) Q3737H unknown Het
Lemd3 T C 10: 120,767,728 (GRCm39) D682G possibly damaging Het
Lilra5 T C 7: 4,241,216 (GRCm39) V51A probably benign Het
Lrrc25 G A 8: 71,070,314 (GRCm39) V32I possibly damaging Het
Mdh1b T A 1: 63,754,360 (GRCm39) M403L probably benign Het
Mms19 G A 19: 41,937,915 (GRCm39) L765F probably damaging Het
Msx3 T A 7: 139,628,900 (GRCm39) T5S probably benign Het
Myh13 A C 11: 67,242,960 (GRCm39) I958L possibly damaging Het
Myo18b T A 5: 113,021,429 (GRCm39) probably null Het
Myo9a G A 9: 59,775,394 (GRCm39) V1002I probably benign Het
Neb T C 2: 52,127,048 (GRCm39) K379R probably damaging Het
Odad1 A G 7: 45,591,263 (GRCm39) E246G probably damaging Het
Or11h7 A T 14: 50,890,801 (GRCm39) M36L probably benign Het
Or5aq6 A T 2: 86,923,390 (GRCm39) M117K possibly damaging Het
Pkp2 A T 16: 16,048,545 (GRCm39) M317L probably benign Het
Pogz T A 3: 94,768,234 (GRCm39) H137Q probably damaging Het
Prrx2 G T 2: 30,735,519 (GRCm39) D25Y unknown Het
Ptprf T C 4: 118,088,844 (GRCm39) D653G probably benign Het
Rps6kl1 T A 12: 85,194,629 (GRCm39) E94V probably damaging Het
Slc44a1 A T 4: 53,481,510 (GRCm39) D27V probably damaging Het
Slc44a4 A G 17: 35,147,253 (GRCm39) I549V possibly damaging Het
Slc8a3 T C 12: 81,361,914 (GRCm39) T302A probably benign Het
Spic T A 10: 88,511,847 (GRCm39) K136N possibly damaging Het
Stk36 T C 1: 74,661,392 (GRCm39) L473P probably damaging Het
Syce1 G A 7: 140,361,987 (GRCm39) T32I possibly damaging Het
Tars2 G A 3: 95,658,199 (GRCm39) Q209* probably null Het
Tmem9b A G 7: 109,344,527 (GRCm39) V100A probably benign Het
Vmn1r67 A G 7: 10,181,128 (GRCm39) I131V probably benign Het
Vmn2r26 C T 6: 124,001,877 (GRCm39) T54I probably benign Het
Zfp142 T C 1: 74,610,747 (GRCm39) E1016G probably damaging Het
Zfp773 T C 7: 7,139,482 (GRCm39) T56A possibly damaging Het
Other mutations in Nsmce2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02207:Nsmce2 APN 15 59,287,927 (GRCm39) missense probably benign 0.31
R0147:Nsmce2 UTSW 15 59,250,806 (GRCm39) missense probably damaging 0.97
R1541:Nsmce2 UTSW 15 59,473,234 (GRCm39) missense probably damaging 1.00
R4151:Nsmce2 UTSW 15 59,473,214 (GRCm39) missense probably benign 0.00
R5856:Nsmce2 UTSW 15 59,250,792 (GRCm39) missense probably damaging 1.00
R6747:Nsmce2 UTSW 15 59,463,573 (GRCm39) missense probably benign 0.11
R6924:Nsmce2 UTSW 15 59,250,774 (GRCm39) missense probably damaging 1.00
R7038:Nsmce2 UTSW 15 59,368,679 (GRCm39) intron probably benign
R7337:Nsmce2 UTSW 15 59,473,265 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- ACGTGTATGTGTGCATGACTC -3'
(R):5'- AAGGGTTACCGCAAACAGC -3'

Sequencing Primer
(F):5'- GCATGACTCTGGGTTTGAGG -3'
(R):5'- AAACAGCGCTGCTTGGC -3'
Posted On 2021-03-08