Incidental Mutation 'R8873:Nsmce4a'
ID 676421
Institutional Source Beutler Lab
Gene Symbol Nsmce4a
Ensembl Gene ENSMUSG00000040331
Gene Name NSE4 homolog A, SMC5-SMC6 complex component
Synonyms 2410003A14Rik
MMRRC Submission 068686-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.903) question?
Stock # R8873 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 130134256-130149111 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 130148886 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Glutamic Acid at position 40 (A40E)
Ref Sequence ENSEMBL: ENSMUSP00000125300 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000124096] [ENSMUST00000160289]
AlphaFold G3XA30
Predicted Effect probably benign
Transcript: ENSMUST00000124096
SMART Domains Protein: ENSMUSP00000130971
Gene: ENSMUSG00000030849

DomainStartEndE-ValueType
Pfam:Pkinase 1 118 4.8e-19 PFAM
Pfam:Pkinase_Tyr 1 118 1.7e-50 PFAM
low complexity region 146 160 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000160289
AA Change: A40E
SMART Domains Protein: ENSMUSP00000125300
Gene: ENSMUSG00000040331
AA Change: A40E

DomainStartEndE-ValueType
low complexity region 2 50 N/A INTRINSIC
low complexity region 51 64 N/A INTRINSIC
Pfam:Nse4-Nse3_bdg 130 186 6.2e-18 PFAM
Pfam:Nse4_C 282 372 6.2e-31 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000161076
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency 98% (42/43)
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd15 C A 11: 77,406,577 (GRCm39) R185S probably damaging Het
Aoah A G 13: 21,089,852 (GRCm39) N157D probably benign Het
Arhgap35 T C 7: 16,295,415 (GRCm39) N1217D possibly damaging Het
Asah2 A T 19: 32,022,288 (GRCm39) probably null Het
Asb2 T C 12: 103,299,725 (GRCm39) N236D probably damaging Het
Auts2 A G 5: 131,472,502 (GRCm39) F317L Het
Cfap74 T C 4: 155,539,465 (GRCm39) I930T unknown Het
Cmip T C 8: 118,103,929 (GRCm39) V51A probably damaging Het
Col15a1 T C 4: 47,247,552 (GRCm39) probably null Het
Cstf3 A T 2: 104,475,355 (GRCm39) H97L possibly damaging Het
Dip2c A T 13: 9,625,182 (GRCm39) M559L probably benign Het
Dnah5 A G 15: 28,219,334 (GRCm39) N51D probably benign Het
Dock4 T A 12: 40,726,767 (GRCm39) Y348* probably null Het
Ehhadh C T 16: 21,581,598 (GRCm39) G465R probably damaging Het
Fam110b C T 4: 5,799,103 (GRCm39) Q174* probably null Het
Fam124a A G 14: 62,844,024 (GRCm39) T511A probably benign Het
Fbxl17 A G 17: 63,691,971 (GRCm39) V528A probably damaging Het
Fbxw24 C A 9: 109,453,996 (GRCm39) W50L probably damaging Het
Fyb2 A T 4: 104,856,538 (GRCm39) E582V probably damaging Het
Ganab G A 19: 8,888,243 (GRCm39) W463* probably null Het
Gm11569 G T 11: 99,689,210 (GRCm39) T163N unknown Het
Gm8237 G T 14: 5,862,453 (GRCm38) Y86* probably null Het
Hrh4 T A 18: 13,140,195 (GRCm39) M30K Het
Ifi209 A G 1: 173,470,156 (GRCm39) Y248C probably damaging Het
Jazf1 T A 6: 52,789,165 (GRCm39) H103L probably damaging Het
Ltbp1 A G 17: 75,486,172 (GRCm39) T66A probably damaging Het
Ndufa4 A G 6: 11,907,360 (GRCm39) L2P probably benign Het
Npnt G A 3: 132,655,816 (GRCm39) probably benign Het
Nrxn1 G T 17: 90,872,821 (GRCm39) C1052* probably null Het
Or2t6 A T 14: 14,175,344 (GRCm38) V246E probably damaging Het
Pcdhgb2 T C 18: 37,824,341 (GRCm39) V444A probably damaging Het
Pcdhgb7 C T 18: 37,886,575 (GRCm39) P582S possibly damaging Het
Phf3 T C 1: 30,843,773 (GRCm39) T1729A possibly damaging Het
Plod2 T A 9: 92,489,112 (GRCm39) probably benign Het
Pramel15 G T 4: 144,099,871 (GRCm39) A298E probably benign Het
Rbm20 G T 19: 53,665,911 (GRCm39) V25F probably benign Het
Recql G T 6: 142,308,013 (GRCm39) Q53K Het
Rps18-ps6 T A 13: 97,896,843 (GRCm39) N85I probably damaging Het
Rtel1 CAAA CAA 2: 180,997,816 (GRCm39) probably null Het
Serpine2 A G 1: 79,799,267 (GRCm39) probably benign Het
Siglecg A G 7: 43,067,448 (GRCm39) T672A probably benign Het
Skil T C 3: 31,152,075 (GRCm39) L199P probably damaging Het
Tmprss11f C T 5: 86,692,733 (GRCm39) A64T probably damaging Het
Ttc3 C T 16: 94,243,842 (GRCm39) T1282M probably damaging Het
Other mutations in Nsmce4a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02693:Nsmce4a APN 7 130,144,538 (GRCm39) missense probably damaging 1.00
R0302:Nsmce4a UTSW 7 130,147,623 (GRCm39) critical splice donor site probably benign
R0521:Nsmce4a UTSW 7 130,138,732 (GRCm39) missense probably damaging 1.00
R0529:Nsmce4a UTSW 7 130,135,536 (GRCm39) missense probably benign 0.01
R1378:Nsmce4a UTSW 7 130,139,900 (GRCm39) missense probably benign 0.05
R1542:Nsmce4a UTSW 7 130,147,623 (GRCm39) critical splice donor site probably null
R2249:Nsmce4a UTSW 7 130,140,769 (GRCm39) missense probably benign 0.00
R4860:Nsmce4a UTSW 7 130,135,321 (GRCm39) unclassified probably benign
R5240:Nsmce4a UTSW 7 130,138,754 (GRCm39) missense probably damaging 1.00
R5356:Nsmce4a UTSW 7 130,138,778 (GRCm39) missense probably damaging 1.00
R5374:Nsmce4a UTSW 7 130,139,900 (GRCm39) missense probably benign 0.05
R6115:Nsmce4a UTSW 7 130,148,722 (GRCm39) missense probably benign 0.05
R6350:Nsmce4a UTSW 7 130,140,829 (GRCm39) missense probably damaging 0.98
R6451:Nsmce4a UTSW 7 130,144,479 (GRCm39)
R7203:Nsmce4a UTSW 7 130,141,602 (GRCm39) missense probably benign 0.00
R7422:Nsmce4a UTSW 7 130,135,547 (GRCm39) missense probably benign 0.20
R8187:Nsmce4a UTSW 7 130,144,519 (GRCm39) missense probably benign 0.04
R8989:Nsmce4a UTSW 7 130,141,587 (GRCm39) missense probably benign 0.09
Predicted Primers PCR Primer
(F):5'- GCACTTCGTAAACAAGCGAAAG -3'
(R):5'- CAGTTTCTGGCGCGAACTTC -3'

Sequencing Primer
(F):5'- ACAAAGCGCCACCTTACGTTG -3'
(R):5'- AACTTCCGCCGCTCCGAAG -3'
Posted On 2021-07-15