Incidental Mutation 'R0302:Nsmce4a'
ID65366
Institutional Source Beutler Lab
Gene Symbol Nsmce4a
Ensembl Gene ENSMUSG00000040331
Gene NameNSE4 homolog A, SMC5-SMC6 complex component
Synonyms
MMRRC Submission 038514-MU
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.909) question?
Stock #R0302 (G1)
Quality Score159
Status Validated
Chromosome7
Chromosomal Location130532526-130573118 bp(-) (GRCm38)
Type of Mutationcritical splice donor site
DNA Base Change (assembly) A to G at 130545893 bp
ZygosityHeterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000124096] [ENSMUST00000160289]
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
SMART Domains Protein: ENSMUSP00000125300
Gene: ENSMUSG00000040331

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
Meta Mutation Damage Score 0.0778 question?
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.8%
  • 10x: 95.1%
  • 20x: 89.5%
Validation Efficiency 100% (63/63)
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adprhl2 T C 4: 126,317,392 E244G probably benign Het
Aldh1l2 G A 10: 83,520,365 P54S probably damaging Het
Ankdd1a G A 9: 65,509,642 probably benign Het
Ankra2 T A 13: 98,271,692 S216R probably damaging Het
Asah2 A T 19: 32,052,956 N105K probably benign Het
Ass1 A T 2: 31,514,819 N371Y probably damaging Het
Cacna1s A G 1: 136,100,604 Y893C probably benign Het
Capza2 G A 6: 17,648,524 R15H probably benign Het
Cbfa2t2 T C 2: 154,534,876 probably benign Het
Ccdc96 A T 5: 36,486,101 T484S possibly damaging Het
Cckar GCTTAGCCTCTTCT GCT 5: 53,700,299 probably null Het
Ccl4 T A 11: 83,663,454 probably benign Het
Cpt1b A G 15: 89,417,870 Y702H probably benign Het
Cr1l G A 1: 195,117,793 T153I probably damaging Het
Cyth2 C A 7: 45,810,585 E57* probably null Het
Daxx T A 17: 33,913,620 S575T probably damaging Het
Depdc5 T C 5: 32,904,546 probably benign Het
Dnah12 A G 14: 26,799,999 D1923G probably damaging Het
Dnah7b A G 1: 46,123,777 T428A probably benign Het
Dnm2 G T 9: 21,500,343 A619S probably benign Het
Enpp2 T C 15: 54,860,061 T639A probably benign Het
Epsti1 A T 14: 77,939,926 H182L probably damaging Het
Exoc3l C T 8: 105,293,543 R250Q probably benign Het
Ggn G T 7: 29,171,240 probably null Het
Il1rap A G 16: 26,692,794 N196S probably benign Het
Ints6 T C 14: 62,709,512 T335A probably damaging Het
Itga1 G A 13: 115,012,318 probably benign Het
Kifc3 G T 8: 95,103,470 Q557K possibly damaging Het
Krt23 A G 11: 99,478,201 I422T probably benign Het
Lcn2 A G 2: 32,384,889 probably benign Het
Lonp2 A G 8: 86,637,991 T326A possibly damaging Het
Lrpprc T C 17: 84,740,078 I909V possibly damaging Het
Lrrc14 G T 15: 76,714,352 R396L probably benign Het
Lypd6 T G 2: 50,165,667 probably benign Het
Man2b1 A G 8: 85,093,016 N610S probably damaging Het
Map2 A T 1: 66,414,828 N959I probably benign Het
Mctp2 C T 7: 72,090,264 V793I possibly damaging Het
Med25 A C 7: 44,880,558 probably benign Het
Mfsd6 T C 1: 52,709,457 Y83C probably damaging Het
Mtbp A T 15: 55,625,424 M499L probably damaging Het
Mtmr10 A T 7: 64,297,497 K53N probably damaging Het
Nfat5 T C 8: 107,358,701 I542T probably damaging Het
Nr1h3 A G 2: 91,192,013 M90T probably damaging Het
Olfr1168 T A 2: 88,185,510 I211N possibly damaging Het
Oprl1 G A 2: 181,719,228 C318Y probably benign Het
Pbx3 A T 2: 34,224,560 S46T probably benign Het
Pign A T 1: 105,589,093 F575I possibly damaging Het
Ptpn13 G T 5: 103,565,225 S1738I probably benign Het
Rnf126 G T 10: 79,759,223 P269Q probably damaging Het
Ryr3 G A 2: 112,647,123 probably benign Het
Slc2a7 C T 4: 150,149,521 A31V probably damaging Het
Slc6a12 A G 6: 121,363,259 D487G probably damaging Het
Son G T 16: 91,656,144 G593V probably damaging Het
Spata31d1a T C 13: 59,703,150 N388S probably benign Het
Spg11 A T 2: 122,092,187 M927K possibly damaging Het
Taf13 A G 3: 108,571,722 M1V probably null Het
Trim32 G A 4: 65,613,254 R16Q probably damaging Het
Trio A G 15: 27,902,517 F286S probably damaging Het
Trpm2 A C 10: 77,943,990 probably benign Het
Ttc7b T C 12: 100,387,179 M390V possibly damaging Het
Vmn1r184 A T 7: 26,267,543 Q238L probably damaging Het
Zfp236 T C 18: 82,658,088 E368G probably damaging Het
Zfr2 G T 10: 81,251,336 probably benign Het
Other mutations in Nsmce4a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02693:Nsmce4a APN 7 130542808 missense probably damaging 1.00
R0521:Nsmce4a UTSW 7 130537002 missense probably damaging 1.00
R0529:Nsmce4a UTSW 7 130533806 missense probably benign 0.01
R1378:Nsmce4a UTSW 7 130538170 missense probably benign 0.05
R1542:Nsmce4a UTSW 7 130545893 critical splice donor site probably null
R2249:Nsmce4a UTSW 7 130539039 missense probably benign 0.00
R4860:Nsmce4a UTSW 7 130533591 unclassified probably benign
R5240:Nsmce4a UTSW 7 130537024 missense probably damaging 1.00
R5356:Nsmce4a UTSW 7 130537048 missense probably damaging 1.00
R5374:Nsmce4a UTSW 7 130538170 missense probably benign 0.05
R6115:Nsmce4a UTSW 7 130546992 missense probably benign 0.05
R6350:Nsmce4a UTSW 7 130539099 missense probably damaging 0.98
R6451:Nsmce4a UTSW 7 130542749
R7203:Nsmce4a UTSW 7 130539872 missense probably benign 0.00
R7422:Nsmce4a UTSW 7 130533817 missense probably benign 0.20
R8187:Nsmce4a UTSW 7 130542789 missense probably benign 0.04
Predicted Primers PCR Primer
(F):5'- CCCTAAAGCATACACTGTACCAAGTGG -3'
(R):5'- GCAAGTGTTTCCTGTCAAGAGTTCAAG -3'

Sequencing Primer
(F):5'- TGGGCCTGTGCACTAGTAAATG -3'
(R):5'- cagccgaggggaagcag -3'
Posted On2013-08-08