Incidental Mutation 'R1873:Nsf'
ID 210964
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 039895-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1873 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 103712608-103844882 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 103749843 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 547 (S547G)
Ref Sequence ENSEMBL: ENSMUSP00000099364 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103075]
AlphaFold P46460
Predicted Effect probably damaging
Transcript: ENSMUST00000103075
AA Change: S547G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000099364
Gene: ENSMUSG00000034187
AA Change: S547G

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: ENSMUST00000127813
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150516
Meta Mutation Damage Score 0.3254 question?
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 95.4%
  • 20x: 92.9%
Validation Efficiency 98% (82/84)
Allele List at MGI
Other mutations in this stock
Total: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b T A 11: 109,870,781 (GRCm39) I124L probably benign Het
Abi3bp A G 16: 56,394,862 (GRCm39) Y190C probably damaging Het
Adam34 A C 8: 44,104,843 (GRCm39) N267K probably benign Het
Anxa5 T C 3: 36,503,551 (GRCm39) D301G probably damaging Het
Atf7ip G T 6: 136,536,886 (GRCm39) D40Y probably damaging Het
Cacna2d2 T G 9: 107,391,071 (GRCm39) M400R probably damaging Het
Cd96 C A 16: 45,938,335 (GRCm39) L43F probably damaging Het
Cep120 T C 18: 53,871,560 (GRCm39) E104G probably damaging Het
Cfap221 T C 1: 119,881,389 (GRCm39) I358V probably benign Het
Cfhr4 C T 1: 139,702,398 (GRCm39) E29K probably damaging Het
Chil4 C T 3: 106,113,414 (GRCm39) E168K probably benign Het
Clca3a1 A G 3: 144,452,590 (GRCm39) V631A probably damaging Het
Cluh C T 11: 74,552,902 (GRCm39) A649V possibly damaging Het
Commd9 A G 2: 101,727,502 (GRCm39) T99A probably benign Het
Csgalnact1 T C 8: 68,854,036 (GRCm39) N255S probably benign Het
Cyth3 T A 5: 143,683,516 (GRCm39) H138Q possibly damaging Het
Dnah7a A T 1: 53,495,691 (GRCm39) probably benign Het
Fbxl18 G A 5: 142,871,978 (GRCm39) A419V probably damaging Het
Fyco1 A G 9: 123,652,303 (GRCm39) V1135A probably benign Het
Glcci1 C A 6: 8,537,837 (GRCm39) H152N probably benign Het
Gm10477 T A X: 55,570,127 (GRCm39) F9Y probably damaging Het
Gnrhr A G 5: 86,330,060 (GRCm39) L320P probably damaging Het
Gorasp1 A T 9: 119,759,306 (GRCm39) S138T probably benign Het
Hars1 C A 18: 36,900,294 (GRCm39) Q469H probably damaging Het
Homer2 T C 7: 81,286,111 (GRCm39) K34E probably damaging Het
Hscb T C 5: 110,978,823 (GRCm39) I198V probably benign Het
Kat6b T C 14: 21,567,057 (GRCm39) S39P probably damaging Het
Kcnk12 G T 17: 88,053,499 (GRCm39) Q388K probably damaging Het
Kcnq3 A G 15: 65,874,104 (GRCm39) I548T probably benign Het
Mark2 A G 19: 7,261,880 (GRCm39) Y351H probably damaging Het
Masp2 A T 4: 148,698,952 (GRCm39) I678F probably damaging Het
Mc4r A T 18: 66,992,531 (GRCm39) I194N probably damaging Het
Ms4a6d A G 19: 11,579,223 (GRCm39) S85P probably damaging Het
Myh4 T A 11: 67,145,569 (GRCm39) Y1351N probably benign Het
Myo16 A G 8: 10,322,789 (GRCm39) D73G probably damaging Het
Mzt1 C T 14: 99,278,097 (GRCm39) probably null Het
Nalcn G A 14: 123,521,013 (GRCm39) H1631Y probably benign Het
Ncf2 A G 1: 152,701,661 (GRCm39) N213S probably benign Het
Nf1 C A 11: 79,437,987 (GRCm39) T99K probably damaging Het
Ntrk3 T A 7: 78,112,587 (GRCm39) I190F probably benign Het
Obsl1 T C 1: 75,474,877 (GRCm39) Y841C probably damaging Het
Ogdh A T 11: 6,290,438 (GRCm39) probably benign Het
Or2ag12 T A 7: 106,277,691 (GRCm39) M1L probably damaging Het
Or5b12 C T 19: 12,896,852 (GRCm39) V274M probably damaging Het
Otog G A 7: 45,918,767 (GRCm39) V948I probably damaging Het
Plekhm1 T C 11: 103,264,824 (GRCm39) D880G probably benign Het
Pnliprp2 G T 19: 58,751,821 (GRCm39) V189L probably benign Het
Polg A G 7: 79,106,241 (GRCm39) L678S probably benign Het
Ptprm C T 17: 66,995,350 (GRCm39) V1293I probably damaging Het
Pwwp3a T A 10: 80,068,442 (GRCm39) D195E possibly damaging Het
Rhou A T 8: 124,387,990 (GRCm39) R241W probably damaging Het
Rtn4 A T 11: 29,686,437 (GRCm39) N264I probably damaging Het
Sez6l T C 5: 112,621,276 (GRCm39) probably benign Het
Sost T C 11: 101,855,069 (GRCm39) E80G probably damaging Het
Spag16 C T 1: 69,935,744 (GRCm39) probably benign Het
Speer4f2 A T 5: 17,579,447 (GRCm39) N82I probably damaging Het
Spef2 C T 15: 9,584,194 (GRCm39) E1624K probably damaging Het
Taf1b T A 12: 24,606,668 (GRCm39) L496Q possibly damaging Het
Tarbp1 A G 8: 127,173,786 (GRCm39) I976T probably damaging Het
Tex14 T A 11: 87,390,431 (GRCm39) V376D probably damaging Het
Timm21 G C 18: 84,967,387 (GRCm39) L130V probably damaging Het
Tm9sf1 T C 14: 55,873,680 (GRCm39) D606G probably damaging Het
Tmc2 A C 2: 130,090,676 (GRCm39) N674T possibly damaging Het
Top3a C A 11: 60,638,810 (GRCm39) E562* probably null Het
Umodl1 A T 17: 31,201,238 (GRCm39) D389V probably damaging Het
Uso1 T C 5: 92,340,718 (GRCm39) probably benign Het
Vmn1r205 A G 13: 22,776,223 (GRCm39) V293A possibly damaging Het
Vmn2r107 A G 17: 20,565,840 (GRCm39) T52A probably benign Het
Vmn2r4 C T 3: 64,298,479 (GRCm39) V461I possibly damaging Het
Vmn2r99 A T 17: 19,582,415 (GRCm39) I7F probably benign Het
Vps11 A G 9: 44,271,233 (GRCm39) F80S probably damaging Het
Wdr43 A G 17: 71,940,647 (GRCm39) S258G probably benign Het
Zbtb24 A G 10: 41,327,123 (GRCm39) D3G probably benign Het
Zc3hav1 C T 6: 38,309,692 (GRCm39) V377I possibly damaging Het
Zfp668 T C 7: 127,465,654 (GRCm39) probably null 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
R1146:Nsf UTSW 11 103,719,364 (GRCm39) missense probably damaging 1.00
R1203:Nsf UTSW 11 103,816,952 (GRCm39) unclassified probably benign
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'- CTTTGTACCCATGTGTACGCAG -3'
(R):5'- CACCGTACAGTTGAGAAATGC -3'

Sequencing Primer
(F):5'- GGTACACACACTCATCTAGACTGG -3'
(R):5'- CCGTACAGTTGAGAAATGCTAATCAG -3'
Posted On 2014-06-30