Incidental Mutation 'R1434:Nsfl1c'
ID 159360
Institutional Source Beutler Lab
Gene Symbol Nsfl1c
Ensembl Gene ENSMUSG00000027455
Gene Name NSFL1 (p97) cofactor (p47)
Synonyms p47
MMRRC Submission 039489-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.223) question?
Stock # R1434 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 151336102-151353230 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 151342666 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Leucine at position 79 (I79L)
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: I79L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000028949
Gene: ENSMUSG00000027455
AA Change: I79L

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: I79L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000086542
Gene: ENSMUSG00000027455
AA Change: I79L

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: I79L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000099449
Gene: ENSMUSG00000027455
AA Change: I79L

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: ENSMUST00000156182
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153333
Meta Mutation Damage Score 0.0580 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.6%
  • 20x: 90.4%
Validation Efficiency 99% (73/74)
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 G T 1: 71,348,959 (GRCm39) H851N probably benign Het
Adamtsl4 T C 3: 95,588,094 (GRCm39) Y631C probably damaging Het
Ankhd1 A G 18: 36,758,212 (GRCm39) I969V probably benign Het
Apob A G 12: 8,059,715 (GRCm39) I2699M probably damaging Het
Aqr A T 2: 113,980,890 (GRCm39) L297Q probably damaging Het
Arb2a A T 13: 77,910,041 (GRCm39) Y98F probably damaging Het
Camsap1 A G 2: 25,835,190 (GRCm39) Y301H probably damaging Het
Ccdc88c A G 12: 100,905,425 (GRCm39) probably benign Het
Cd209b T A 8: 3,973,367 (GRCm39) I106F possibly damaging Het
Cdkn1b T A 6: 134,898,060 (GRCm39) W60R probably damaging Het
Coasy A G 11: 100,975,822 (GRCm39) probably benign Het
Col2a1 T A 15: 97,877,532 (GRCm39) Q1017L probably damaging Het
Cspg4b G A 13: 113,505,026 (GRCm39) V510I possibly damaging Het
Ctnnal1 T A 4: 56,847,971 (GRCm39) N56I probably damaging Het
Cyb561d2 T A 9: 107,418,842 (GRCm39) probably benign Het
Dcst1 G T 3: 89,259,826 (GRCm39) T632N probably damaging Het
Ddx1 C T 12: 13,287,232 (GRCm39) V267I probably benign Het
Dnah10 A T 5: 124,852,050 (GRCm39) M1736L probably benign Het
Eln G A 5: 134,758,291 (GRCm39) probably benign Het
Elp1 T A 4: 56,781,193 (GRCm39) E493D probably benign Het
Enpp2 A T 15: 54,726,077 (GRCm39) D566E probably damaging Het
Ezh1 T C 11: 101,085,743 (GRCm39) K638R probably damaging Het
Fdx2 C A 9: 20,984,694 (GRCm39) G37W probably benign Het
Grin2b T C 6: 135,820,193 (GRCm39) I340V probably benign Het
Il16 T C 7: 83,304,520 (GRCm39) T671A probably benign Het
Kcnd2 T A 6: 21,216,356 (GRCm39) M20K probably damaging Het
Kndc1 C T 7: 139,502,600 (GRCm39) S962F probably damaging Het
L1td1 A G 4: 98,626,054 (GRCm39) S750G possibly damaging Het
Lama2 A G 10: 27,084,366 (GRCm39) C935R probably damaging Het
Lgalsl T C 11: 20,776,418 (GRCm39) D158G possibly damaging Het
Lman1 A T 18: 66,126,144 (GRCm39) probably null Het
Lmtk2 A G 5: 144,111,407 (GRCm39) E709G probably damaging Het
Lrfn3 T C 7: 30,055,352 (GRCm39) H531R possibly damaging Het
Mark3 A G 12: 111,589,759 (GRCm39) probably benign Het
Mov10 T C 3: 104,702,490 (GRCm39) E997G probably damaging Het
Myo15a T A 11: 60,395,157 (GRCm39) W2484R probably benign Het
Myo1g G T 11: 6,459,372 (GRCm39) Q833K probably benign Het
Ncoa3 T A 2: 165,897,430 (GRCm39) D740E probably benign Het
Nol12 A G 15: 78,822,153 (GRCm39) probably benign Het
Nrxn2 T A 19: 6,493,642 (GRCm39) probably null Het
Or52b2 T C 7: 104,986,468 (GRCm39) I152V probably benign Het
Or5b108 A G 19: 13,168,662 (GRCm39) I210M probably benign Het
Or5k1 G T 16: 58,617,811 (GRCm39) H133N probably benign Het
Osbpl8 A C 10: 111,127,442 (GRCm39) E842A probably benign Het
Pdxk G T 10: 78,276,645 (GRCm39) T310K probably benign Het
Phip T G 9: 82,841,658 (GRCm39) K54Q probably damaging Het
Pklr A T 3: 89,050,342 (GRCm39) D366V probably damaging Het
Plxna2 T A 1: 194,433,848 (GRCm39) probably benign Het
Ppp4r3a A T 12: 101,009,783 (GRCm39) V618E probably damaging Het
Prdm12 A T 2: 31,530,319 (GRCm39) Q70L possibly damaging Het
Ptgr3 A G 18: 84,112,596 (GRCm39) K91E probably benign Het
Ptpn21 A T 12: 98,654,849 (GRCm39) M706K probably damaging Het
Ptprq A T 10: 107,422,575 (GRCm39) F1606I probably damaging Het
Rasgrp4 T C 7: 28,837,152 (GRCm39) probably null Het
Rlbp1 C A 7: 79,029,661 (GRCm39) probably null Het
Rtp2 T C 16: 23,746,193 (GRCm39) D166G probably benign Het
Ryr3 A C 2: 112,475,604 (GRCm39) F4481V probably damaging Het
Scn2a A G 2: 65,532,335 (GRCm39) D649G possibly damaging Het
Slc30a5 T A 13: 100,939,950 (GRCm39) D655V probably damaging Het
Slco5a1 G A 1: 12,942,132 (GRCm39) A838V probably benign Het
Spata6l G T 19: 28,905,039 (GRCm39) probably benign Het
Srprb A G 9: 103,067,501 (GRCm39) V239A probably damaging Het
Tceanc2 T C 4: 107,004,837 (GRCm39) T104A probably benign Het
Tcp1 T C 17: 13,141,493 (GRCm39) probably null Het
Unc13b C T 4: 43,239,385 (GRCm39) R1056* probably null Het
Wdr19 G A 5: 65,380,847 (GRCm39) probably benign Het
Zfhx4 T A 3: 5,306,919 (GRCm39) H48Q probably benign Het
Zfp787 T A 7: 6,135,234 (GRCm39) H339L probably damaging Het
Zfp839 G T 12: 110,827,333 (GRCm39) R408L probably benign 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
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
R5924:Nsfl1c UTSW 2 151,347,320 (GRCm39) missense probably benign 0.36
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'- CCTGTGTGACCTTAACAGACAAATGCC -3'
(R):5'- CTGCTAACCTACCGAGAGCAAACTG -3'

Sequencing Primer
(F):5'- GACAAATGCCACGCCCTTTC -3'
(R):5'- GAACATGTGTCTCACGCCTT -3'
Posted On 2014-03-14