Incidental Mutation 'R1378:Nsmce4a'
ID 162953
Institutional Source Beutler Lab
Gene Symbol Nsmce4a
Ensembl Gene ENSMUSG00000040331
Gene Name NSE4 homolog A, SMC5-SMC6 complex component
Synonyms 2410003A14Rik
MMRRC Submission 039442-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.903) question?
Stock # R1378 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 130134256-130149111 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 130139900 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 276 (R276Q)
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 noncoding transcript
Transcript: ENSMUST00000159694
SMART Domains Protein: ENSMUSP00000124471
Gene: ENSMUSG00000040331

DomainStartEndE-ValueType
Pfam:Nse4-Nse3_bdg 36 94 2.2e-20 PFAM
Pfam:Nse4_C 187 263 1.2e-29 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000160289
AA Change: R276Q

PolyPhen 2 Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000125300
Gene: ENSMUSG00000040331
AA Change: R276Q

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161414
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161470
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207276
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162510
Meta Mutation Damage Score 0.0746 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 98.0%
  • 10x: 95.3%
  • 20x: 89.3%
Validation Efficiency 100% (57/57)
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afap1 A G 5: 36,126,030 (GRCm39) T342A probably damaging Het
Alg1 A G 16: 5,061,580 (GRCm39) N406D probably damaging Het
Atp13a4 A T 16: 29,239,246 (GRCm39) M825K probably damaging Het
Birc6 T A 17: 74,967,450 (GRCm39) I4117K probably damaging Het
Brinp2 A T 1: 158,074,624 (GRCm39) L499Q possibly damaging Het
Brwd1 A T 16: 95,842,570 (GRCm39) V789D probably benign Het
Ccdc153 C G 9: 44,154,958 (GRCm39) L94V probably null Het
Ccna1 A G 3: 54,957,150 (GRCm39) V237A probably damaging Het
Cct7 T A 6: 85,444,545 (GRCm39) probably null Het
Cenpb C T 2: 131,020,230 (GRCm39) probably benign Het
Chrne T A 11: 70,505,956 (GRCm39) probably null Het
Clstn3 T A 6: 124,415,378 (GRCm39) D662V probably damaging Het
Clu G T 14: 66,212,350 (GRCm39) C189F probably damaging Het
Cstdc5 A G 16: 36,179,929 (GRCm39) C63R probably benign Het
Cul7 C T 17: 46,973,052 (GRCm39) R1388C probably damaging Het
Dgka T C 10: 128,571,696 (GRCm39) probably null Het
Dop1b A G 16: 93,567,280 (GRCm39) T1236A probably benign Het
Edn2 A G 4: 120,019,095 (GRCm39) E28G probably benign Het
Elp3 T C 14: 65,830,380 (GRCm39) I24V probably benign Het
Faap24 T C 7: 35,092,326 (GRCm39) E197G probably benign Het
Fam13a T A 6: 58,933,736 (GRCm39) M285L probably benign Het
Gm9944 T A 4: 144,179,773 (GRCm39) probably benign Het
Gsdmc3 T C 15: 63,731,435 (GRCm39) probably benign Het
Gvin3 T A 7: 106,201,373 (GRCm39) I624F probably damaging Het
Ift22 A C 5: 136,941,757 (GRCm39) K133T probably benign Het
Il23r T A 6: 67,429,394 (GRCm39) K316I possibly damaging Het
Klra17 T A 6: 129,842,647 (GRCm39) E217V probably damaging Het
Nell2 A T 15: 95,130,402 (GRCm39) V657E probably damaging Het
Nlrp4d C A 7: 10,098,111 (GRCm39) K850N probably benign Het
Or10d4 T C 9: 39,580,962 (GRCm39) L203P probably damaging Het
Or4p8 T A 2: 88,727,370 (GRCm39) R190S probably benign Het
Or52s1b T C 7: 102,822,475 (GRCm39) D123G probably damaging Het
Or52z14 A T 7: 103,253,145 (GRCm39) R95* probably null Het
Pclo T C 5: 14,732,327 (GRCm39) S3610P probably benign Het
Pon3 T G 6: 5,230,813 (GRCm39) D238A probably benign Het
Ppp4r4 T C 12: 103,547,751 (GRCm39) probably benign Het
Rad18 T C 6: 112,658,297 (GRCm39) probably benign Het
Ralgapa1 T C 12: 55,723,711 (GRCm39) Y1652C probably damaging Het
Rem1 G A 2: 152,476,455 (GRCm39) V238M probably damaging Het
Sel1l T C 12: 91,799,871 (GRCm39) probably null Het
Soat1 A G 1: 156,294,352 (GRCm39) probably benign Het
Tex15 A T 8: 34,065,244 (GRCm39) N1558I probably damaging Het
Tmem132d A T 5: 128,346,011 (GRCm39) F170L probably benign Het
Tro G T X: 149,438,567 (GRCm39) P30Q probably damaging Het
Tubg2 G T 11: 101,047,699 (GRCm39) E95* probably null Het
Unc45b G A 11: 82,827,678 (GRCm39) S725N probably benign Het
Vmn2r7 A G 3: 64,599,025 (GRCm39) S511P possibly damaging Het
Vps35l G T 7: 118,393,795 (GRCm39) E515* probably null Het
Vps35l A T 7: 118,393,796 (GRCm39) E515V probably damaging Het
Zfp174 G A 16: 3,667,353 (GRCm39) E181K probably benign 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
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
R8989:Nsmce4a UTSW 7 130,141,587 (GRCm39) missense probably benign 0.09
Predicted Primers PCR Primer
(F):5'- ACACTGTTAAAGCAGGCACCCG -3'
(R):5'- AGAGATTGTCAACTGCCGTGTGACC -3'

Sequencing Primer
(F):5'- ggcaagcaaaacacccatac -3'
(R):5'- CCGTGTGACCTGTGTGAC -3'
Posted On 2014-03-17