Incidental Mutation 'R8989:Nsmce4a'
ID 684293
Institutional Source Beutler Lab
Gene Symbol Nsmce4a
Ensembl Gene ENSMUSG00000040331
Gene Name NSE4 homolog A, SMC5-SMC6 complex component
Synonyms 2410003A14Rik
MMRRC Submission 068821-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.903) question?
Stock # R8989 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 130134256-130149111 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 130141587 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 201 (T201A)
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 probably benign
Transcript: ENSMUST00000160289
AA Change: T201A

PolyPhen 2 Score 0.089 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000125300
Gene: ENSMUSG00000040331
AA Change: T201A

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
Meta Mutation Damage Score 0.1051 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.4%
Validation Efficiency 100% (62/62)
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik A G 13: 77,760,724 (GRCm39) I1260M probably benign Het
A1cf T A 19: 31,904,556 (GRCm39) F273Y possibly damaging Het
A3galt2 T C 4: 128,655,231 (GRCm39) W45R probably damaging Het
Adam23 A G 1: 63,588,948 (GRCm39) E460G probably damaging Het
Ago1 T A 4: 126,357,583 (GRCm39) T31S probably benign Het
Ago3 T A 4: 126,298,191 (GRCm39) T110S probably damaging Het
Akap6 T C 12: 52,927,654 (GRCm39) F188S probably damaging Het
Asic2 G A 11: 81,043,180 (GRCm39) P38S probably benign Het
Astn2 A T 4: 65,499,890 (GRCm39) C1000S possibly damaging Het
Atp10b T A 11: 43,136,269 (GRCm39) C1132* probably null Het
Atp7b A T 8: 22,510,911 (GRCm39) S527T probably benign Het
Bod1l G A 5: 41,979,025 (GRCm39) T763I probably benign Het
Capn11 A G 17: 45,954,783 (GRCm39) L118P probably damaging Het
Col13a1 T C 10: 61,696,250 (GRCm39) E589G unknown Het
Col6a2 T C 10: 76,440,015 (GRCm39) D630G probably damaging Het
Ctnnd2 G A 15: 30,669,660 (GRCm39) R423H probably damaging Het
Dld G A 12: 31,383,458 (GRCm39) T447I probably damaging Het
Eif4g3 T C 4: 137,912,059 (GRCm39) L1227S probably damaging Het
Elac1 C A 18: 73,880,310 (GRCm39) E29* probably null Het
Entrep1 T A 19: 23,962,196 (GRCm39) Q269L probably damaging Het
Ephb6 C T 6: 41,590,293 (GRCm39) A15V probably benign Het
Fancc G T 13: 63,548,090 (GRCm39) L70M possibly damaging Het
Fgd6 T A 10: 93,959,425 (GRCm39) M1041K probably damaging Het
Fn1 A G 1: 71,663,446 (GRCm39) V1014A possibly damaging Het
Galnt1 C T 18: 24,402,567 (GRCm39) T308I possibly damaging Het
Garre1 T C 7: 33,956,869 (GRCm39) Q332R probably damaging Het
Gpr63 T A 4: 25,007,357 (GRCm39) V27D possibly damaging Het
Hcfc2 T C 10: 82,536,822 (GRCm39) V78A probably damaging Het
Hexd T A 11: 121,109,136 (GRCm39) probably benign Het
Hipk1 T C 3: 103,668,960 (GRCm39) T479A possibly damaging Het
Hkdc1 T C 10: 62,229,544 (GRCm39) D711G probably damaging Het
Ifna16 A T 4: 88,594,912 (GRCm39) F61Y probably damaging Het
Insrr T A 3: 87,722,664 (GRCm39) N1295K probably damaging Het
Kif5b T A 18: 6,209,021 (GRCm39) R914W probably damaging Het
Lpo T C 11: 87,708,660 (GRCm39) T113A probably benign Het
Mmp21 T C 7: 133,276,746 (GRCm39) D419G probably damaging Het
Naf1 A G 8: 67,313,628 (GRCm39) T204A possibly damaging Het
Nup160 T A 2: 90,548,208 (GRCm39) N980K probably damaging Het
Odad2 T C 18: 7,268,464 (GRCm39) K352E probably benign Het
Or13c7d T C 4: 43,770,346 (GRCm39) I222V possibly damaging Het
Or14j2 A T 17: 37,885,542 (GRCm39) F257L probably benign Het
Or2d3c T A 7: 106,526,366 (GRCm39) Q100L probably damaging Het
Pcdhb19 A G 18: 37,631,476 (GRCm39) T424A probably benign Het
Pclo C T 5: 14,719,325 (GRCm39) A1154V unknown Het
Pramel28 C A 4: 143,691,770 (GRCm39) A318S probably benign Het
Psma8 T A 18: 14,890,404 (GRCm39) D181E probably benign Het
Rhpn2 C A 7: 35,053,446 (GRCm39) probably benign Het
Serpinb6e G T 13: 34,022,967 (GRCm39) H139N possibly damaging Het
Slc26a7 T A 4: 14,533,642 (GRCm39) I394F probably damaging Het
Spmip5 T C 19: 58,776,153 (GRCm39) E100G probably damaging Het
Stxbp5l ATTTT ATTTTT 16: 37,036,414 (GRCm39) probably null Het
Taok3 T C 5: 117,379,227 (GRCm39) S421P probably benign Het
Tas2r143 T G 6: 42,377,828 (GRCm39) D219E probably damaging Het
Tcaf1 G A 6: 42,663,707 (GRCm39) R58C probably damaging Het
Tenm3 A T 8: 48,688,383 (GRCm39) Y2401* probably null Het
Tut1 T C 19: 8,937,116 (GRCm39) V200A possibly damaging Het
Unc5c T A 3: 141,509,467 (GRCm39) probably benign Het
Vmn2r28 T G 7: 5,493,473 (GRCm39) I158L probably benign Het
Vmn2r72 T A 7: 85,404,134 (GRCm39) H19L probably benign Het
Xpo4 A G 14: 57,828,475 (GRCm39) M795T probably benign Het
Zc3h12a C A 4: 125,014,743 (GRCm39) R247L probably damaging Het
Zfp521 C A 18: 13,979,137 (GRCm39) L425F 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
R8873:Nsmce4a UTSW 7 130,148,886 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- GACTTCTGTTCAAGCCTGGG -3'
(R):5'- AGGATGAAAACAGGCGCTCC -3'

Sequencing Primer
(F):5'- CCTGGGGGAGTCTCTGAACAATG -3'
(R):5'- TGAAAACAGGCGCTCCCTCTG -3'
Posted On 2021-10-11