Incidental Mutation 'R3861:Nsfl1c'
ID 276328
Institutional Source Beutler Lab
Gene Symbol Nsfl1c
Ensembl Gene ENSMUSG00000027455
Gene Name NSFL1 (p97) cofactor (p47)
Synonyms p47
MMRRC Submission 040788-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.223) question?
Stock # R3861 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 151336102-151353230 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) C to A at 151352824 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000099449 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028949] [ENSMUST00000089140] [ENSMUST00000089140] [ENSMUST00000103160] [ENSMUST00000103160]
AlphaFold Q9CZ44
Predicted Effect probably null
Transcript: ENSMUST00000028949
SMART Domains Protein: ENSMUSP00000028949
Gene: ENSMUSG00000027455

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 null
Transcript: ENSMUST00000089140
SMART Domains Protein: ENSMUSP00000086542
Gene: ENSMUSG00000027455

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 null
Transcript: ENSMUST00000089140
SMART Domains Protein: ENSMUSP00000086542
Gene: ENSMUSG00000027455

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 null
Transcript: ENSMUST00000103160
SMART Domains Protein: ENSMUSP00000099449
Gene: ENSMUSG00000027455

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 probably null
Transcript: ENSMUST00000103160
SMART Domains Protein: ENSMUSP00000099449
Gene: ENSMUSG00000027455

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: ENSMUST00000134081
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139229
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146695
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153333
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156182
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency 100% (55/55)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5730507C01Rik G A 12: 18,583,411 (GRCm39) S157N probably benign Het
A830018L16Rik T C 1: 11,658,778 (GRCm39) probably benign Het
Akip1 C T 7: 109,306,613 (GRCm39) probably benign Het
Anxa5 T C 3: 36,504,807 (GRCm39) T252A probably benign Het
Arhgef10l A G 4: 140,242,798 (GRCm39) F1072L possibly damaging Het
Armc1 C T 3: 19,189,196 (GRCm39) R186Q probably damaging Het
Atxn2l A T 7: 126,101,123 (GRCm39) probably null Het
Cadps2 A G 6: 23,355,860 (GRCm39) I849T probably damaging Het
Ccdc28a T A 10: 18,100,743 (GRCm39) Q28L probably damaging Het
Cdh4 T A 2: 179,515,890 (GRCm39) V356D probably damaging Het
Chd8 T A 14: 52,474,578 (GRCm39) Q151L probably benign Het
Chgb T A 2: 132,635,064 (GRCm39) H335Q probably damaging Het
Col19a1 G A 1: 24,365,098 (GRCm39) P506S probably damaging Het
Col5a2 T C 1: 45,419,397 (GRCm39) T1228A probably damaging Het
Cpxm2 A G 7: 131,656,648 (GRCm39) V538A probably benign Het
Cramp1 A T 17: 25,216,588 (GRCm39) probably benign Het
Cttnbp2 T C 6: 18,423,832 (GRCm39) R831G probably benign Het
Cyp4f17 A G 17: 32,747,078 (GRCm39) D436G probably damaging Het
Dcaf6 A T 1: 165,256,838 (GRCm39) N48K probably damaging Het
Ddx50 C A 10: 62,478,725 (GRCm39) V154L possibly damaging Het
Dnah9 T C 11: 65,943,820 (GRCm39) probably benign Het
Dnm3 T A 1: 162,138,974 (GRCm39) I395L possibly damaging Het
Elp2 C T 18: 24,739,977 (GRCm39) R68C probably benign Het
Frg1 A T 8: 41,860,820 (GRCm39) probably null Het
Fsip2 G T 2: 82,815,120 (GRCm39) D3618Y probably damaging Het
Gabra2 T C 5: 71,130,886 (GRCm39) D314G probably damaging Het
Gramd1a A C 7: 30,835,365 (GRCm39) D407E possibly damaging Het
Grm5 T A 7: 87,779,202 (GRCm39) S881T possibly damaging Het
Ikbkb T A 8: 23,168,852 (GRCm39) I216F possibly damaging Het
Kif3a T C 11: 53,488,805 (GRCm39) V634A probably benign Het
Ltbp1 A T 17: 75,666,333 (GRCm39) Y1342F possibly damaging Het
Mia2 G T 12: 59,155,807 (GRCm39) V508L probably benign Het
Mtus2 C T 5: 148,250,223 (GRCm39) T155M probably damaging Het
Napepld A T 5: 21,888,287 (GRCm39) V54E probably benign Het
Nlrc4 T C 17: 74,752,616 (GRCm39) E589G probably benign Het
Nphp3 G T 9: 103,916,525 (GRCm39) probably benign Het
Nr2f1 T A 13: 78,343,794 (GRCm39) R10* probably null Het
Or14a258 A G 7: 86,035,331 (GRCm39) V179A possibly damaging Het
Pcdhgc3 A G 18: 37,941,581 (GRCm39) T661A probably damaging Het
Pdzrn3 A G 6: 101,149,332 (GRCm39) V332A possibly damaging Het
Pip4p2 A G 4: 14,902,506 (GRCm39) N169S probably damaging Het
Pkhd1 C T 1: 20,271,151 (GRCm39) C3134Y probably damaging Het
Ptprz1 T C 6: 23,036,894 (GRCm39) V1131A probably damaging Het
Rccd1 T C 7: 79,970,116 (GRCm39) E167G probably benign Het
Ror1 T C 4: 100,265,120 (GRCm39) I198T possibly damaging Het
Rpl31-ps17 C T 12: 54,748,397 (GRCm39) noncoding transcript Het
Scly C T 1: 91,230,573 (GRCm39) probably benign Het
Scn4a T C 11: 106,216,950 (GRCm39) probably benign Het
Sh3rf2 T C 18: 42,286,384 (GRCm39) S594P probably damaging Het
Slc19a1 G A 10: 76,877,809 (GRCm39) V115M possibly damaging Het
Slc26a6 A T 9: 108,731,395 (GRCm39) probably benign Het
Smg7 C T 1: 152,728,349 (GRCm39) R439K probably null Het
Spata31e3 T C 13: 50,400,887 (GRCm39) K480E probably benign Het
Syne2 A G 12: 76,013,253 (GRCm39) R2815G probably damaging Het
Trim75 G A 8: 65,435,479 (GRCm39) R324C probably damaging Het
Ucp3 T C 7: 100,129,458 (GRCm39) S98P probably benign Het
Zscan29 G C 2: 120,991,212 (GRCm39) R859G 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
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
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'- GGACTCCAGGAAGATTGTACC -3'
(R):5'- CAGCTGGGCGGTTATGTTAAC -3'

Sequencing Primer
(F):5'- TCCAGGAAGATTGTACCTGCCAG -3'
(R):5'- GTTATGTTAACCGCTGCACG -3'
Posted On 2015-04-06