Incidental Mutation 'R5856:Nsmce2'
ID 454927
Institutional Source Beutler Lab
Gene Symbol Nsmce2
Ensembl Gene ENSMUSG00000059586
Gene Name NSE2/MMS21 homolog, SMC5-SMC6 complex SUMO ligase
Synonyms 1110014D18Rik
MMRRC Submission 043230-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5856 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 59246096-59473533 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 59250792 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 21 (E21G)
Ref Sequence ENSEMBL: ENSMUSP00000154811 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022976] [ENSMUST00000079703] [ENSMUST00000168722] [ENSMUST00000227173]
AlphaFold Q91VT1
Predicted Effect probably benign
Transcript: ENSMUST00000022976
SMART Domains Protein: ENSMUSP00000022976
Gene: ENSMUSG00000022350

DomainStartEndE-ValueType
Pfam:Strumpellin 23 1103 N/A PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000079703
AA Change: E21G

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000078641
Gene: ENSMUSG00000059586
AA Change: E21G

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 possibly damaging
Transcript: ENSMUST00000168722
AA Change: E21G

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000128893
Gene: ENSMUSG00000059586
AA Change: E21G

DomainStartEndE-ValueType
low complexity region 3 13 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000227173
AA Change: E21G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.4%
  • 10x: 97.0%
  • 20x: 90.2%
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930553M12Rik T C 4: 88,786,596 (GRCm39) I7M unknown Het
Adgrf5 A G 17: 43,757,011 (GRCm39) T497A probably benign Het
Ano5 T C 7: 51,235,074 (GRCm39) I669T probably benign Het
Arhgap11a A T 2: 113,664,116 (GRCm39) N722K possibly damaging Het
Atm A T 9: 53,407,255 (GRCm39) I1161K possibly damaging Het
Atp13a4 T C 16: 29,252,805 (GRCm39) T714A possibly damaging Het
BC051665 T A 13: 60,932,314 (GRCm39) M92L probably benign Het
Car3 G A 3: 14,936,701 (GRCm39) V255M probably damaging Het
Cnot11 C A 1: 39,576,534 (GRCm39) F179L probably benign Het
Dctn1 A G 6: 83,174,847 (GRCm39) Y1013C probably damaging Het
Gm19965 A G 1: 116,749,579 (GRCm39) D420G probably benign Het
Gm5444 A G 13: 4,821,683 (GRCm39) noncoding transcript Het
Hydin A T 8: 111,268,474 (GRCm39) D2946V probably damaging Het
Hyou1 C T 9: 44,292,641 (GRCm39) R119C probably damaging Het
Ighm A T 12: 113,385,222 (GRCm39) L246Q unknown Het
Itpr3 A G 17: 27,325,379 (GRCm39) E1324G probably damaging Het
Loxl4 G T 19: 42,583,805 (GRCm39) Q749K possibly damaging Het
Muc2 C A 7: 141,299,381 (GRCm39) probably benign Het
Myh11 T C 16: 14,023,840 (GRCm39) T1505A probably benign Het
Or13c3 T A 4: 52,856,516 (GRCm39) probably benign Het
Or4c115 T A 2: 88,928,254 (GRCm39) I6F probably benign Het
Plaa A G 4: 94,471,724 (GRCm39) I375T probably benign Het
Pou2f1 C T 1: 165,742,699 (GRCm39) A65T probably benign Het
Rictor G A 15: 6,823,487 (GRCm39) E1555K probably benign Het
Rxfp1 T A 3: 79,570,620 (GRCm39) N271Y possibly damaging Het
Sema5b T G 16: 35,466,756 (GRCm39) Y219* probably null Het
Slc35f3 G T 8: 127,047,819 (GRCm39) R53L probably benign Het
Slc44a5 T C 3: 153,964,029 (GRCm39) V465A possibly damaging Het
Slc9a5 A G 8: 106,083,797 (GRCm39) I446V possibly damaging Het
Slf1 A T 13: 77,254,206 (GRCm39) D204E possibly damaging Het
Sox5 T A 6: 144,155,088 (GRCm39) T3S probably damaging Het
Srr G A 11: 74,803,838 (GRCm39) R40C possibly damaging Het
Tas2r115 T A 6: 132,714,501 (GRCm39) H150L possibly damaging Het
Tet2 A G 3: 133,192,401 (GRCm39) S678P probably benign Het
Tmem11 T C 11: 60,755,684 (GRCm39) K183E probably damaging Het
Upf1 T C 8: 70,787,412 (GRCm39) probably null Het
Xpo6 A T 7: 125,748,674 (GRCm39) probably benign Het
Zfp638 C T 6: 83,954,047 (GRCm39) S1384L probably damaging Het
Zfp703 C T 8: 27,469,233 (GRCm39) P299L probably 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
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
R8681:Nsmce2 UTSW 15 59,473,208 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- CTCTGGGTATTGCATGCAGGAAC -3'
(R):5'- TCCCAAGAATGCTCAAAGGGC -3'

Sequencing Primer
(F):5'- TATTGCATGCAGGAACAGTGTAGC -3'
(R):5'- GGCACCCTCAGAGTAATGC -3'
Posted On 2017-02-10