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
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 59374247-59601684 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 59378943 bp (GRCm38)
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: 88,868,359 I7M unknown Het
Adgrf5 A G 17: 43,446,120 T497A probably benign Het
Ano5 T C 7: 51,585,326 I669T probably benign Het
Arhgap11a A T 2: 113,833,771 N722K possibly damaging Het
Atm A T 9: 53,495,955 I1161K possibly damaging Het
Atp13a4 T C 16: 29,433,987 T714A possibly damaging Het
BC051665 T A 13: 60,784,500 M92L probably benign Het
Car3 G A 3: 14,871,641 V255M probably damaging Het
Cnot11 C A 1: 39,537,453 F179L probably benign Het
Dctn1 A G 6: 83,197,865 Y1013C probably damaging Het
Gm19965 A G 1: 116,821,849 D420G probably benign Het
Gm5444 A G 13: 4,771,684 noncoding transcript Het
Hydin A T 8: 110,541,842 D2946V probably damaging Het
Hyou1 C T 9: 44,381,344 R119C probably damaging Het
Ighm A T 12: 113,421,602 L246Q unknown Het
Itpr3 A G 17: 27,106,405 E1324G probably damaging Het
Loxl4 G T 19: 42,595,366 Q749K possibly damaging Het
Muc2 C A 7: 141,745,644 probably benign Het
Myh11 T C 16: 14,205,976 T1505A probably benign Het
Olfr1220 T A 2: 89,097,910 I6F probably benign Het
Olfr273 T A 4: 52,856,516 probably benign Het
Plaa A G 4: 94,583,487 I375T probably benign Het
Pou2f1 C T 1: 165,915,130 A65T probably benign Het
Rictor G A 15: 6,794,006 E1555K probably benign Het
Rxfp1 T A 3: 79,663,313 N271Y possibly damaging Het
Sema5b T G 16: 35,646,386 Y219* probably null Het
Slc35f3 G T 8: 126,321,080 R53L probably benign Het
Slc44a5 T C 3: 154,258,392 V465A possibly damaging Het
Slc9a5 A G 8: 105,357,165 I446V possibly damaging Het
Slf1 A T 13: 77,106,087 D204E possibly damaging Het
Sox5 T A 6: 144,209,362 T3S probably damaging Het
Srr G A 11: 74,913,012 R40C possibly damaging Het
Tas2r115 T A 6: 132,737,538 H150L possibly damaging Het
Tet2 A G 3: 133,486,640 S678P probably benign Het
Tmem11 T C 11: 60,864,858 K183E probably damaging Het
Upf1 T C 8: 70,334,762 probably null Het
Xpo6 A T 7: 126,149,502 probably benign Het
Zfp638 C T 6: 83,977,065 S1384L probably damaging Het
Zfp703 C T 8: 26,979,205 P299L probably damaging Het
Other mutations in Nsmce2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02207:Nsmce2 APN 15 59416078 missense probably benign 0.31
R0147:Nsmce2 UTSW 15 59378957 missense probably damaging 0.97
R1541:Nsmce2 UTSW 15 59601385 missense probably damaging 1.00
R4151:Nsmce2 UTSW 15 59601365 missense probably benign 0.00
R6747:Nsmce2 UTSW 15 59591724 missense probably benign 0.11
R6924:Nsmce2 UTSW 15 59378925 missense probably damaging 1.00
R7038:Nsmce2 UTSW 15 59496830 intron probably benign
R7337:Nsmce2 UTSW 15 59601416 missense probably damaging 0.98
R8681:Nsmce2 UTSW 15 59601359 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