Incidental Mutation 'R2409:Nsf'
ID 248139
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 040375-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2409 (G1)
Quality Score 200
Status Validated
Chromosome 11
Chromosomal Location 103712608-103844882 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 103821578 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 26 (E26K)
Ref Sequence ENSEMBL: ENSMUSP00000099364 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103075] [ENSMUST00000133774] [ENSMUST00000149642]
AlphaFold P46460
Predicted Effect possibly damaging
Transcript: ENSMUST00000103075
AA Change: E26K

PolyPhen 2 Score 0.586 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000099364
Gene: ENSMUSG00000034187
AA Change: E26K

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: ENSMUST00000107009
Predicted Effect probably benign
Transcript: ENSMUST00000133774
SMART Domains Protein: ENSMUSP00000133591
Gene: ENSMUSG00000034187

DomainStartEndE-ValueType
Pfam:CDC48_N 1 51 1.5e-10 PFAM
CDC48_2 76 148 6.22e-7 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140394
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145126
Predicted Effect possibly damaging
Transcript: ENSMUST00000149642
AA Change: E23K

PolyPhen 2 Score 0.580 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000133603
Gene: ENSMUSG00000034187
AA Change: E23K

DomainStartEndE-ValueType
CDC48_N 2 76 6.51e-10 SMART
Meta Mutation Damage Score 0.0893 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.9%
  • 20x: 94.0%
Validation Efficiency 100% (32/32)
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1a C T 5: 8,788,747 (GRCm39) T1042I probably benign Het
Adamts13 A G 2: 26,868,374 (GRCm39) T162A probably benign Het
Adamts7 T A 9: 90,062,740 (GRCm39) I398N probably damaging Het
Cib2 A G 9: 54,452,751 (GRCm39) probably null Het
Cyp3a16 T C 5: 145,377,177 (GRCm39) K470R probably benign Het
Dpy19l2 A G 9: 24,569,924 (GRCm39) M343T probably benign Het
Dyrk2 A G 10: 118,696,532 (GRCm39) V242A probably benign Het
Extl3 T C 14: 65,315,017 (GRCm39) D55G probably benign Het
Fabp7 A G 10: 57,661,772 (GRCm39) K82E possibly damaging Het
Fat1 G T 8: 45,493,567 (GRCm39) probably benign Het
Gen1 A G 12: 11,299,165 (GRCm39) I280T possibly damaging Het
Gm5117 T C 8: 32,227,306 (GRCm39) noncoding transcript Het
Gucy1b2 CCGTGTTT C 14: 62,643,628 (GRCm39) probably null Het
Il3ra G A 14: 14,349,377 (GRCm38) probably null Het
Myo1f A G 17: 33,795,641 (GRCm39) N66D probably damaging Het
Nfkb1 C T 3: 135,319,704 (GRCm39) E264K possibly damaging Het
Or7d10 G T 9: 19,832,072 (GRCm39) R189L probably benign Het
Or7d10 G C 9: 19,832,077 (GRCm39) D191H probably damaging Het
Prdm10 A G 9: 31,260,418 (GRCm39) H624R possibly damaging Het
Rgs5 G T 1: 169,504,451 (GRCm39) V34F possibly damaging Het
Sec14l4 T C 11: 3,990,048 (GRCm39) S116P probably benign Het
Septin1 T C 7: 126,815,143 (GRCm39) probably null Het
Septin9 T A 11: 117,251,287 (GRCm39) I535N probably damaging Het
Sh2b1 C T 7: 126,070,651 (GRCm39) G350D probably damaging Het
Slc6a21 T C 7: 44,929,750 (GRCm39) V107A probably benign Het
Trim26 C A 17: 37,161,895 (GRCm39) H105N probably damaging Het
Trim71 A T 9: 114,342,781 (GRCm39) D500E possibly damaging Het
Vmn2r78 T A 7: 86,569,953 (GRCm39) probably benign Het
Vmn2r84 A G 10: 130,227,940 (GRCm39) S99P probably 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
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
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'- CAAGGTTTGACAGTGTAATGACAG -3'
(R):5'- CTACCCTGGAGGAAGAAACACG -3'

Sequencing Primer
(F):5'- GTTTGACAGTGTAATGACAGAAATGC -3'
(R):5'- TCAGGATGGAGGGACATTTACTAC -3'
Posted On 2014-11-11