Incidental Mutation 'R1146:Nsf'
ID 165126
Institutional Source Beutler Lab
Gene Symbol Nsf
Ensembl Gene ENSMUSG00000034187
Gene Name N-ethylmaleimide sensitive fusion protein
Synonyms N-ethylmaleimide sensitive factor, SKD2
MMRRC Submission 039219-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1146 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 103712608-103844882 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 103719364 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 646 (T646I)
Ref Sequence ENSEMBL: ENSMUSP00000099364 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103075]
AlphaFold P46460
Predicted Effect noncoding transcript
Transcript: ENSMUST00000040443
Predicted Effect probably damaging
Transcript: ENSMUST00000103075
AA Change: T646I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000099364
Gene: ENSMUSG00000034187
AA Change: T646I

DomainStartEndE-ValueType
CDC48_N 5 86 2.7e-16 SMART
CDC48_2 111 183 6.22e-7 SMART
AAA 252 399 3.65e-19 SMART
AAA 535 671 2.2e-13 SMART
low complexity region 674 683 N/A INTRINSIC
low complexity region 698 711 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146036
Meta Mutation Damage Score 0.9183 question?
Coding Region Coverage
  • 1x: 99.6%
  • 3x: 98.5%
  • 10x: 95.4%
  • 20x: 88.7%
Validation Efficiency 98% (44/45)
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 A T 13: 81,679,795 (GRCm39) V1848E probably damaging Het
Alpk3 A G 7: 80,727,343 (GRCm39) K158E probably damaging Het
Arrdc4 T A 7: 68,389,756 (GRCm39) E356D probably damaging Het
Asb4 A G 6: 5,423,591 (GRCm39) N246S probably damaging Het
Ccdc150 A T 1: 54,404,130 (GRCm39) probably benign Het
Ctsj G A 13: 61,150,312 (GRCm39) P230L probably benign Het
Dync1i2 C T 2: 71,058,164 (GRCm39) probably benign Het
Eme1 A G 11: 94,536,277 (GRCm39) L564P probably damaging Het
Fabp3 C T 4: 130,206,180 (GRCm39) T57I probably benign Het
Frg1 A G 8: 41,864,254 (GRCm39) probably benign Het
Fzd2 A T 11: 102,496,206 (GRCm39) S217C possibly damaging Het
Gaa G T 11: 119,165,730 (GRCm39) R81L probably damaging Het
Gfral A G 9: 76,074,341 (GRCm39) V368A probably benign Het
Gm10774 T C 2: 126,551,392 (GRCm39) Y29C probably benign Het
Gucy1a2 T A 9: 3,759,830 (GRCm39) N545K probably damaging Het
Herc2 T C 7: 55,796,444 (GRCm39) S1939P probably benign Het
Ifnk T C 4: 35,152,231 (GRCm39) I53T probably benign Het
Iqub G A 6: 24,505,627 (GRCm39) L94F possibly damaging Het
Kpna1 C T 16: 35,853,749 (GRCm39) R460* probably null Het
Masp1 T C 16: 23,310,865 (GRCm39) E189G probably damaging Het
Mogat1 A G 1: 78,500,250 (GRCm39) I105V probably benign Het
Mpi A G 9: 57,452,472 (GRCm39) probably benign Het
Msh2 C A 17: 87,987,488 (GRCm39) D209E probably benign Het
Or10g9b A T 9: 39,917,390 (GRCm39) V285D possibly damaging Het
Or4c10b C T 2: 89,711,550 (GRCm39) P127S probably damaging Het
Or5b24 T A 19: 12,912,329 (GRCm39) S76T possibly damaging Het
Or6b2 G A 1: 92,407,612 (GRCm39) H244Y probably damaging Het
Otogl T A 10: 107,722,374 (GRCm39) I327F probably damaging Het
Pappa2 T C 1: 158,682,552 (GRCm39) D832G probably damaging Het
Pax5 G T 4: 44,697,512 (GRCm39) probably benign Het
Pfkfb4 A G 9: 108,836,794 (GRCm39) E163G probably benign Het
Phc1 T C 6: 122,300,416 (GRCm39) probably benign Het
Piwil1 T C 5: 128,824,957 (GRCm39) S552P probably benign Het
Ppfia3 A C 7: 45,001,639 (GRCm39) D424E probably benign Het
Prss16 A G 13: 22,191,138 (GRCm39) probably benign Het
Ptpro T A 6: 137,420,592 (GRCm39) V1007D probably damaging Het
Rbsn A G 6: 92,178,711 (GRCm39) probably null Het
Rexo1 C T 10: 80,380,239 (GRCm39) S919N probably benign Het
Sec31a T C 5: 100,510,032 (GRCm39) N1152D probably damaging Het
Sel1l3 A T 5: 53,274,445 (GRCm39) F1012I possibly damaging Het
Sema4c A G 1: 36,589,646 (GRCm39) V539A probably benign Het
Sf3b5 A G 10: 12,884,575 (GRCm39) E70G possibly damaging Het
Tmcc2 TTGCTGCTGCTGCTGCTGC TTGCTGCTGCTGCTGC 1: 132,285,493 (GRCm39) probably benign Het
Tor1aip2 T C 1: 155,940,483 (GRCm39) V263A possibly damaging Het
Unc45b A G 11: 82,813,733 (GRCm39) E380G probably damaging Het
Usp16 C T 16: 87,271,536 (GRCm39) T364M possibly damaging Het
Wwox T C 8: 115,438,776 (GRCm39) S281P probably damaging Het
Zfp110 A G 7: 12,580,721 (GRCm39) probably null Het
Zfp335 G A 2: 164,738,043 (GRCm39) A856V probably benign Het
Zfp652 G A 11: 95,640,608 (GRCm39) E178K possibly damaging Het
Other mutations in Nsf
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01161:Nsf APN 11 103,752,711 (GRCm39) splice site probably benign
IGL01377:Nsf APN 11 103,763,473 (GRCm39) missense probably damaging 0.97
IGL01994:Nsf APN 11 103,819,608 (GRCm39) missense probably damaging 0.98
IGL02141:Nsf APN 11 103,719,351 (GRCm39) missense probably benign 0.02
IGL02663:Nsf APN 11 103,821,641 (GRCm39) missense probably benign 0.04
IGL02871:Nsf APN 11 103,752,882 (GRCm39) splice site probably benign
uhaul UTSW 11 103,821,578 (GRCm39) missense possibly damaging 0.59
R0180:Nsf UTSW 11 103,821,606 (GRCm39) missense probably damaging 1.00
R0880:Nsf UTSW 11 103,804,198 (GRCm39) missense possibly damaging 0.72
R1146:Nsf UTSW 11 103,719,364 (GRCm39) missense probably damaging 1.00
R1203:Nsf UTSW 11 103,816,952 (GRCm39) unclassified probably benign
R1873:Nsf UTSW 11 103,749,843 (GRCm39) missense probably damaging 1.00
R1951:Nsf UTSW 11 103,773,702 (GRCm39) nonsense probably null
R2163:Nsf UTSW 11 103,754,159 (GRCm39) missense possibly damaging 0.64
R2193:Nsf UTSW 11 103,821,578 (GRCm39) missense possibly damaging 0.59
R2194:Nsf UTSW 11 103,821,578 (GRCm39) missense possibly damaging 0.59
R2287:Nsf UTSW 11 103,821,578 (GRCm39) missense possibly damaging 0.59
R2289:Nsf UTSW 11 103,821,578 (GRCm39) missense possibly damaging 0.59
R2343:Nsf UTSW 11 103,821,578 (GRCm39) missense possibly damaging 0.59
R2345:Nsf UTSW 11 103,821,578 (GRCm39) missense possibly damaging 0.59
R2346:Nsf UTSW 11 103,821,578 (GRCm39) missense possibly damaging 0.59
R2347:Nsf UTSW 11 103,821,578 (GRCm39) missense possibly damaging 0.59
R2350:Nsf UTSW 11 103,821,578 (GRCm39) missense possibly damaging 0.59
R2405:Nsf UTSW 11 103,821,578 (GRCm39) missense possibly damaging 0.59
R2406:Nsf UTSW 11 103,821,578 (GRCm39) missense possibly damaging 0.59
R2407:Nsf UTSW 11 103,821,578 (GRCm39) missense possibly damaging 0.59
R2408:Nsf UTSW 11 103,821,578 (GRCm39) missense possibly damaging 0.59
R2409:Nsf UTSW 11 103,821,578 (GRCm39) missense possibly damaging 0.59
R2411:Nsf UTSW 11 103,821,578 (GRCm39) missense possibly damaging 0.59
R2435:Nsf UTSW 11 103,821,578 (GRCm39) missense possibly damaging 0.59
R2924:Nsf UTSW 11 103,821,578 (GRCm39) missense possibly damaging 0.59
R2925:Nsf UTSW 11 103,821,578 (GRCm39) missense possibly damaging 0.59
R2987:Nsf UTSW 11 103,749,869 (GRCm39) splice site probably null
R3177:Nsf UTSW 11 103,821,578 (GRCm39) missense possibly damaging 0.59
R3277:Nsf UTSW 11 103,821,578 (GRCm39) missense possibly damaging 0.59
R3741:Nsf UTSW 11 103,821,578 (GRCm39) missense possibly damaging 0.59
R3742:Nsf UTSW 11 103,821,578 (GRCm39) missense possibly damaging 0.59
R3845:Nsf UTSW 11 103,821,578 (GRCm39) missense possibly damaging 0.59
R4278:Nsf UTSW 11 103,821,632 (GRCm39) missense probably damaging 0.96
R4717:Nsf UTSW 11 103,714,595 (GRCm39) missense probably damaging 1.00
R4775:Nsf UTSW 11 103,763,419 (GRCm39) missense possibly damaging 0.93
R4915:Nsf UTSW 11 103,801,185 (GRCm39) unclassified probably benign
R4918:Nsf UTSW 11 103,801,185 (GRCm39) unclassified probably benign
R5090:Nsf UTSW 11 103,801,404 (GRCm39) missense probably benign 0.00
R5126:Nsf UTSW 11 103,773,618 (GRCm39) nonsense probably null
R5411:Nsf UTSW 11 103,773,637 (GRCm39) missense probably damaging 1.00
R5560:Nsf UTSW 11 103,754,081 (GRCm39) missense possibly damaging 0.47
R6344:Nsf UTSW 11 103,752,730 (GRCm39) missense probably damaging 1.00
R6596:Nsf UTSW 11 103,801,283 (GRCm39) missense probably damaging 0.98
R7155:Nsf UTSW 11 103,719,356 (GRCm39) nonsense probably null
R7272:Nsf UTSW 11 103,718,064 (GRCm39) missense probably damaging 1.00
R7769:Nsf UTSW 11 103,819,665 (GRCm39) missense probably damaging 1.00
R8323:Nsf UTSW 11 103,819,665 (GRCm39) missense probably benign 0.05
R8487:Nsf UTSW 11 103,819,584 (GRCm39) missense probably damaging 1.00
R8856:Nsf UTSW 11 103,821,568 (GRCm39) missense possibly damaging 0.69
R9253:Nsf UTSW 11 103,804,142 (GRCm39) missense probably null 1.00
R9476:Nsf UTSW 11 103,763,988 (GRCm39) missense probably damaging 1.00
R9509:Nsf UTSW 11 103,754,074 (GRCm39) missense probably benign 0.19
R9510:Nsf UTSW 11 103,763,988 (GRCm39) missense probably damaging 1.00
R9520:Nsf UTSW 11 103,804,709 (GRCm39) missense probably damaging 1.00
R9546:Nsf UTSW 11 103,801,275 (GRCm39) nonsense probably null
R9632:Nsf UTSW 11 103,714,594 (GRCm39) missense probably damaging 1.00
R9779:Nsf UTSW 11 103,719,352 (GRCm39) missense probably damaging 0.99
X0066:Nsf UTSW 11 103,714,566 (GRCm39) missense probably benign
Z1176:Nsf UTSW 11 103,801,380 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GGGCCTCAACTCCTTTCTGATACAC -3'
(R):5'- TGGTTGTGCTAAAACAGTGAGCGAG -3'

Sequencing Primer
(F):5'- TCTGATACACAGTTCCAAACAGTG -3'
(R):5'- agcctggaatacactatgaagac -3'
Posted On 2014-03-28