Incidental Mutation 'R3782:Nsmce1'
ID272084
Institutional Source Beutler Lab
Gene Symbol Nsmce1
Ensembl Gene ENSMUSG00000030750
Gene NameNSE1 homolog, SMC5-SMC6 complex component
Synonyms
MMRRC Submission 040751-MU
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.869) question?
Stock #R3782 (G1)
Quality Score137
Status Validated
Chromosome7
Chromosomal Location125467640-125491596 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 125486377 bp
ZygosityHeterozygous
Amino Acid Change Valine to Isoleucine at position 47 (V47I)
Ref Sequence ENSEMBL: ENSMUSP00000033006 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033006]
Predicted Effect probably benign
Transcript: ENSMUST00000033006
AA Change: V47I

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000033006
Gene: ENSMUSG00000030750
AA Change: V47I

DomainStartEndE-ValueType
Pfam:SMC_Nse1 29 190 9.2e-26 PFAM
Pfam:zf-RING-like 205 245 7.8e-13 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000138616
AA Change: V71I
SMART Domains Protein: ENSMUSP00000118058
Gene: ENSMUSG00000030750
AA Change: V71I

DomainStartEndE-ValueType
Pfam:SMC_Nse1 54 200 3e-23 PFAM
Meta Mutation Damage Score 0.0596 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.1%
Validation Efficiency 100% (42/42)
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aimp2 T A 5: 143,906,699 K24N possibly damaging Het
Atf6 A T 1: 170,794,767 Y428* probably null Het
BC034090 T C 1: 155,226,278 E80G probably damaging Het
Calcr T C 6: 3,700,193 T263A possibly damaging Het
Cdh7 T A 1: 110,049,004 V133E probably benign Het
Cpsf3 A C 12: 21,300,066 E262A possibly damaging Het
Ddx5 T C 11: 106,784,520 I330V probably benign Het
Dlg5 A G 14: 24,190,310 probably benign Het
Enam A T 5: 88,502,815 S653C probably damaging Het
Fndc3b A T 3: 27,459,986 V682D possibly damaging Het
Gm7075 T A 10: 63,421,693 H16L probably benign Het
Guf1 A T 5: 69,567,152 M396L probably benign Het
H2-Q10 A G 17: 35,471,018 Y179C possibly damaging Het
Hlx G T 1: 184,731,987 A52D probably damaging Het
Hpgd G A 8: 56,298,418 V94M probably damaging Het
Ktn1 G A 14: 47,706,403 probably benign Het
Lama5 T G 2: 180,194,563 H1165P possibly damaging Het
Lrrfip1 A G 1: 91,112,189 T205A possibly damaging Het
Mcm7 G A 5: 138,164,736 R385W probably damaging Het
Mgat4c A G 10: 102,388,921 E332G probably benign Het
Mpp7 A T 18: 7,351,085 H537Q probably damaging Het
Mx1 T C 16: 97,451,995 D380G possibly damaging Het
Nckap5 T A 1: 126,025,074 Q1183L possibly damaging Het
Nkx1-2 A G 7: 132,597,432 V200A probably damaging Het
Nr3c2 T A 8: 77,085,684 probably null Het
Nudt3 A G 17: 27,580,808 S134P possibly damaging Het
Olfr1009 G A 2: 85,721,696 C97Y probably damaging Het
Olfr385 C A 11: 73,589,013 G242C probably damaging Het
Olfr385 A T 11: 73,589,368 Y123* probably null Het
Pcnx A G 12: 81,996,118 T2325A probably benign Het
Phactr4 A T 4: 132,367,867 probably null Het
Serpinb6d T A 13: 33,664,114 D20E probably benign Het
Spta1 A T 1: 174,208,314 Y1062F probably damaging Het
Ssc5d A G 7: 4,942,791 T941A probably benign Het
Taf11 A G 17: 27,903,193 probably benign Het
Tax1bp1 A G 6: 52,739,548 H286R probably damaging Het
Tmem62 T A 2: 120,977,467 W57R probably damaging Het
Vmn2r111 T C 17: 22,571,320 Y235C possibly damaging Het
Vmn2r22 T A 6: 123,650,632 K2* probably null Het
Vmn2r74 A G 7: 85,956,114 V442A probably benign Het
Other mutations in Nsmce1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0466:Nsmce1 UTSW 7 125472236 splice site probably benign
R1271:Nsmce1 UTSW 7 125471254 missense probably damaging 0.97
R1403:Nsmce1 UTSW 7 125467855 unclassified probably benign
R3039:Nsmce1 UTSW 7 125471156 missense probably damaging 1.00
R3196:Nsmce1 UTSW 7 125486473 missense probably benign 0.12
R6480:Nsmce1 UTSW 7 125491418 missense probably benign
R7047:Nsmce1 UTSW 7 125491434 missense probably benign 0.00
R7139:Nsmce1 UTSW 7 125469082 missense probably benign 0.12
Predicted Primers PCR Primer
(F):5'- TCTCAGACTAAATGGCAGTCAC -3'
(R):5'- TGCAGTGCGTGTTTCTGAAC -3'

Sequencing Primer
(F):5'- CTCAGACTAAATGGCAGTCACTTTGG -3'
(R):5'- TTCTGAACATGATGGAGTACAGACCC -3'
Posted On2015-03-25