Incidental Mutation 'R5924:Nsfl1c'
ID 461701
Institutional Source Beutler Lab
Gene Symbol Nsfl1c
Ensembl Gene ENSMUSG00000027455
Gene Name NSFL1 (p97) cofactor (p47)
Synonyms p47
MMRRC Submission 044119-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.223) question?
Stock # R5924 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 151336102-151353230 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 151347320 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 164 (N164K)
Ref Sequence ENSEMBL: ENSMUSP00000099449 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028949] [ENSMUST00000089140] [ENSMUST00000103160]
AlphaFold Q9CZ44
Predicted Effect probably benign
Transcript: ENSMUST00000028949
AA Change: N195K

PolyPhen 2 Score 0.118 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000028949
Gene: ENSMUSG00000027455
AA Change: N195K

DomainStartEndE-ValueType
Pfam:UBA_4 6 48 1.3e-18 PFAM
SEP 176 270 2.15e-57 SMART
UBX 290 369 6.8e-8 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000089140
AA Change: N197K

PolyPhen 2 Score 0.096 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000086542
Gene: ENSMUSG00000027455
AA Change: N197K

DomainStartEndE-ValueType
Pfam:UBA_4 6 48 2.2e-18 PFAM
SEP 178 272 2.15e-57 SMART
UBX 292 371 6.8e-8 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000103160
AA Change: N164K

PolyPhen 2 Score 0.360 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000099449
Gene: ENSMUSG00000027455
AA Change: N164K

DomainStartEndE-ValueType
Pfam:UBA_4 6 48 6.5e-19 PFAM
SEP 145 239 4.47e-55 SMART
UBX 259 338 6.8e-8 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125270
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133197
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134081
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146695
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153333
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139229
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156182
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.5%
  • 10x: 97.6%
  • 20x: 92.7%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] N-ethylmaleimide-sensitive factor (NSF) and valosin-containing protein (p97) are two ATPases known to be involved in transport vesicle/target membrane fusion and fusions between membrane compartments. A trimer of the protein encoded by this gene binds a hexamer of cytosolic p97 and is required for p97-mediated regrowth of Golgi cisternae from mitotic Golgi fragments. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 8. [provided by RefSeq, May 2011]
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd3 T C 18: 10,706,085 (GRCm39) Y76C probably damaging Het
Agbl1 C T 7: 76,058,982 (GRCm39) T204I probably benign Het
Apc2 A T 10: 80,147,984 (GRCm39) I984F probably damaging Het
Art3 A T 5: 92,560,091 (GRCm39) probably benign Het
B4galnt4 A G 7: 140,650,742 (GRCm39) M839V probably damaging Het
Bnip2 A G 9: 69,904,444 (GRCm39) D67G probably benign Het
Cdhr2 A C 13: 54,874,496 (GRCm39) D856A probably benign Het
Cep78 A T 19: 15,938,430 (GRCm39) L506Q probably damaging Het
Col6a1 A G 10: 76,554,205 (GRCm39) probably null Het
Cyp3a44 A T 5: 145,731,137 (GRCm39) F221Y possibly damaging Het
Dcakd C A 11: 102,890,646 (GRCm39) R47L probably benign Het
Ddr2 A G 1: 169,822,197 (GRCm39) V417A probably benign Het
Dnah5 A T 15: 28,307,473 (GRCm39) T1734S probably benign Het
Eefsec A T 6: 88,332,529 (GRCm39) M227K probably damaging Het
Eif4g3 T G 4: 137,929,237 (GRCm39) N1628K probably damaging Het
Epha5 A T 5: 84,381,533 (GRCm39) Y439* probably null Het
Esrp1 G T 4: 11,361,174 (GRCm39) T324K probably damaging Het
Flnb T A 14: 7,890,765 (GRCm38) M549K probably benign Het
Fndc1 T A 17: 7,992,442 (GRCm39) Q418L unknown Het
Ggnbp2 A G 11: 84,749,363 (GRCm39) S144P possibly damaging Het
Gk5 T C 9: 96,032,563 (GRCm39) probably null Het
Gpr137 A G 19: 6,916,729 (GRCm39) L228P probably damaging Het
Gpt2 C A 8: 86,219,633 (GRCm39) S26R probably damaging Het
Hras C T 7: 140,772,374 (GRCm39) E91K possibly damaging Het
Ighv1-36 G A 12: 114,843,777 (GRCm39) P28S possibly damaging Het
Kalrn G A 16: 34,064,203 (GRCm39) T807M probably damaging Het
Lifr A G 15: 7,202,453 (GRCm39) T365A probably benign Het
Lpin1 A T 12: 16,594,658 (GRCm39) S795T possibly damaging Het
Magi2 A C 5: 20,816,067 (GRCm39) M1128L probably benign Het
Magi3 A T 3: 103,961,854 (GRCm39) probably null Het
Mier1 T A 4: 103,016,899 (GRCm39) L380* probably null Het
Mtmr14 A G 6: 113,230,750 (GRCm39) Y118C probably damaging Het
Myof A T 19: 37,971,421 (GRCm39) M277K probably damaging Het
Nlrp6 T C 7: 140,503,403 (GRCm39) V473A probably damaging Het
Olfm3 A T 3: 114,916,187 (GRCm39) Q353L probably benign Het
Opn5 A T 17: 42,922,199 (GRCm39) M1K probably null Het
Or2y3 A G 17: 38,393,254 (GRCm39) V205A probably benign Het
Or4k15 A G 14: 50,364,139 (GRCm39) Y35C probably damaging Het
Or5d41 T C 2: 88,054,891 (GRCm39) I162V probably benign Het
Pax8 A G 2: 24,311,634 (GRCm39) S434P probably damaging Het
Pigo G A 4: 43,023,389 (GRCm39) Q256* probably null Het
Pik3ap1 A C 19: 41,284,895 (GRCm39) F597V probably damaging Het
Pkd2 A G 5: 104,646,424 (GRCm39) K744E probably damaging Het
Prom1 T C 5: 44,162,305 (GRCm39) T729A probably benign Het
Rasal1 T C 5: 120,813,582 (GRCm39) L652P probably damaging Het
Sebox T C 11: 78,395,017 (GRCm39) probably null Het
Setd2 A T 9: 110,403,112 (GRCm39) I1918F probably benign Het
Slc24a2 A T 4: 86,929,825 (GRCm39) probably null Het
Slc28a1 G T 7: 80,765,360 (GRCm39) G25V probably benign Het
Slc51a A G 16: 32,295,990 (GRCm39) F259L possibly damaging Het
Slco2a1 T A 9: 102,923,898 (GRCm39) C37* probably null Het
Speer4f2 A G 5: 17,581,622 (GRCm39) D188G probably damaging Het
Stim2 A G 5: 54,259,985 (GRCm39) K156E probably benign Het
Strn4 T C 7: 16,572,246 (GRCm39) I653T probably damaging Het
Tacr3 G T 3: 134,638,060 (GRCm39) D406Y possibly damaging Het
Utp20 G A 10: 88,651,784 (GRCm39) R400C probably benign Het
V1rd19 C T 7: 23,703,374 (GRCm39) S280L probably benign Het
Vmn2r4 C T 3: 64,296,685 (GRCm39) C700Y probably damaging Het
Zup1 A T 10: 33,803,543 (GRCm39) C514S probably damaging Het
Other mutations in Nsfl1c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01989:Nsfl1c APN 2 151,342,649 (GRCm39) missense probably damaging 1.00
IGL02137:Nsfl1c APN 2 151,351,509 (GRCm39) missense probably damaging 0.98
IGL02817:Nsfl1c APN 2 151,342,651 (GRCm39) missense probably damaging 1.00
R1434:Nsfl1c UTSW 2 151,342,666 (GRCm39) missense probably benign 0.00
R1973:Nsfl1c UTSW 2 151,347,334 (GRCm39) missense probably damaging 0.98
R2051:Nsfl1c UTSW 2 151,345,002 (GRCm39) missense probably damaging 1.00
R3861:Nsfl1c UTSW 2 151,352,824 (GRCm39) splice site probably null
R4749:Nsfl1c UTSW 2 151,351,526 (GRCm39) missense probably benign 0.01
R4880:Nsfl1c UTSW 2 151,348,230 (GRCm39) missense probably damaging 1.00
R5629:Nsfl1c UTSW 2 151,346,085 (GRCm39) missense probably damaging 1.00
R5765:Nsfl1c UTSW 2 151,346,085 (GRCm39) missense probably damaging 1.00
R6818:Nsfl1c UTSW 2 151,344,940 (GRCm39) nonsense probably null
R7359:Nsfl1c UTSW 2 151,336,279 (GRCm39) missense probably benign
R7424:Nsfl1c UTSW 2 151,342,673 (GRCm39) missense probably benign 0.07
R7453:Nsfl1c UTSW 2 151,351,431 (GRCm39) missense possibly damaging 0.93
R7903:Nsfl1c UTSW 2 151,338,522 (GRCm39) missense probably damaging 1.00
R8302:Nsfl1c UTSW 2 151,346,056 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGCGTCATAGCATGTCCCTAG -3'
(R):5'- GCTATGCCTCAAGGAAAACAG -3'

Sequencing Primer
(F):5'- CGTCATAGCATGTCCCTAGTTTAGG -3'
(R):5'- CAGCTAAAAATGGACAAGGTTTTTGG -3'
Posted On 2017-02-28