Incidental Mutation 'R4880:Nsfl1c'
ID 375193
Institutional Source Beutler Lab
Gene Symbol Nsfl1c
Ensembl Gene ENSMUSG00000027455
Gene Name NSFL1 (p97) cofactor (p47)
Synonyms p47
MMRRC Submission 042489-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.223) question?
Stock # R4880 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 151336102-151353230 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 151348230 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 206 (D206E)
Ref Sequence ENSEMBL: ENSMUSP00000099449 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028949] [ENSMUST00000089140] [ENSMUST00000103160]
AlphaFold Q9CZ44
Predicted Effect probably damaging
Transcript: ENSMUST00000028949
AA Change: D237E

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000028949
Gene: ENSMUSG00000027455
AA Change: D237E

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 damaging
Transcript: ENSMUST00000089140
AA Change: D239E

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000086542
Gene: ENSMUSG00000027455
AA Change: D239E

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 damaging
Transcript: ENSMUST00000103160
AA Change: D206E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000099449
Gene: ENSMUSG00000027455
AA Change: D206E

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: ENSMUST00000133197
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134081
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139229
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153333
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146695
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156182
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.5%
Validation Efficiency 98% (89/91)
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610021A01Rik T C 7: 41,276,529 (GRCm39) I744T possibly damaging Het
Adgrb1 T A 15: 74,458,871 (GRCm39) F1324L possibly damaging Het
Adm A G 7: 110,228,326 (GRCm39) H230R probably benign Het
Ank2 A T 3: 126,840,475 (GRCm39) probably null Het
Arih1 A T 9: 59,344,168 (GRCm39) F156L possibly damaging Het
Atf6b A G 17: 34,873,529 (GRCm39) H660R probably damaging Het
Bcl9l C A 9: 44,420,007 (GRCm39) Q1101K probably benign Het
Ccdc174 G A 6: 91,876,572 (GRCm39) probably benign Het
Ccdc65 A C 15: 98,620,538 (GRCm39) probably null Het
Cela2a T C 4: 141,549,598 (GRCm39) N59S probably benign Het
Cfap157 A T 2: 32,668,261 (GRCm39) V393E probably damaging Het
Chd1 T C 17: 17,594,916 (GRCm39) F17S probably damaging Het
Cpne3 T C 4: 19,540,827 (GRCm39) I183V probably benign Het
Cyp2d11 C A 15: 82,276,306 (GRCm39) V122L probably benign Het
Dcaf8 C A 1: 172,015,056 (GRCm39) probably benign Het
Dchs1 T A 7: 105,404,937 (GRCm39) D2535V probably benign Het
Eif4a2 G T 16: 22,927,650 (GRCm39) probably benign Het
Fzd4 T A 7: 89,057,109 (GRCm39) D385E probably benign Het
Galnt13 C A 2: 54,950,584 (GRCm39) Q422K probably damaging Het
Gnptab C T 10: 88,268,413 (GRCm39) Q507* probably null Het
Hoxa7 A G 6: 52,194,014 (GRCm39) probably benign Het
Htra1 T A 7: 130,563,813 (GRCm39) V228D probably damaging Het
Idi2l A T 13: 8,990,702 (GRCm39) probably null Het
Ifi203 T A 1: 173,756,716 (GRCm39) probably benign Het
Iqca1l T C 5: 24,754,750 (GRCm39) D340G probably benign Het
Irs1 TGGGGTGGACATCGAACTGAAGGAG TG 1: 82,265,453 (GRCm39) 913 probably null Het
Itga2b G T 11: 102,348,548 (GRCm39) probably benign Het
Itgb1 G T 8: 129,442,631 (GRCm39) R272L probably damaging Het
Kif9 A G 9: 110,330,703 (GRCm39) E343G probably damaging Het
Klhl5 T C 5: 65,316,244 (GRCm39) V97A probably damaging Het
Lama5 C A 2: 179,818,861 (GRCm39) probably benign Het
Lamb2 A G 9: 108,361,226 (GRCm39) probably null Het
Lrp1b T A 2: 41,660,931 (GRCm39) Y59F probably benign Het
Mmrn1 A G 6: 60,953,423 (GRCm39) E568G probably benign Het
Mreg A G 1: 72,201,495 (GRCm39) Y166H probably damaging Het
Myh7 C A 14: 55,216,045 (GRCm39) V1323F probably benign Het
Nr1i3 T A 1: 171,043,951 (GRCm39) I91K probably damaging Het
Or11g24 T C 14: 50,662,758 (GRCm39) Y261H possibly damaging Het
Or13c3 A T 4: 52,856,411 (GRCm39) M34K probably damaging Het
Or2ak5 G A 11: 58,611,107 (GRCm39) L256F probably benign Het
Or4k44 A T 2: 111,367,698 (GRCm39) L312* probably null Het
Or5k17 A C 16: 58,746,463 (GRCm39) L157W probably damaging Het
Or8b54 T A 9: 38,686,843 (GRCm39) C97* probably null Het
Pcdhb7 C T 18: 37,475,284 (GRCm39) T140I probably benign Het
Pcdhgb5 T G 18: 37,865,641 (GRCm39) S479A probably benign Het
Pcsk5 T A 19: 17,425,054 (GRCm39) Y1583F probably damaging Het
Pias1 T C 9: 62,820,080 (GRCm39) R296G probably benign Het
Plscr1l1 A G 9: 92,236,665 (GRCm39) E108G probably damaging Het
Polr1e T A 4: 45,022,280 (GRCm39) C100S probably damaging Het
Rpap1 C A 2: 119,614,346 (GRCm39) R17L probably damaging Het
Rtn1 C T 12: 72,264,232 (GRCm39) V192I possibly damaging Het
Ryr2 G A 13: 11,767,104 (GRCm39) P1262L probably damaging Het
Slc4a7 G T 14: 14,757,342 (GRCm38) D396Y probably damaging Het
Slc5a8 T C 10: 88,727,886 (GRCm39) Y118H probably damaging Het
Slc7a6os T A 8: 106,937,247 (GRCm39) Q71L probably benign Het
Sphkap A G 1: 83,266,538 (GRCm39) V127A probably damaging Het
Srpk1 A G 17: 28,810,199 (GRCm39) S580P probably damaging Het
Syne2 A G 12: 76,026,593 (GRCm39) I3474V probably damaging Het
Tchh A G 3: 93,351,130 (GRCm39) D190G possibly damaging Het
Tenm4 T A 7: 96,555,025 (GRCm39) probably null Het
Tex14 T A 11: 87,377,121 (GRCm39) I155N possibly damaging Het
Tm7sf3 A T 6: 146,511,358 (GRCm39) V377E possibly damaging Het
Tnfsf9 T A 17: 57,412,433 (GRCm39) M1K probably null Het
Tns2 C T 15: 102,020,474 (GRCm39) T780I probably damaging Het
Trdn T A 10: 33,347,575 (GRCm39) D639E probably benign Het
Trmt10a A G 3: 137,857,972 (GRCm39) E173G possibly damaging Het
Ttn G A 2: 76,649,119 (GRCm39) P10984S possibly damaging Het
Tubb6 C T 18: 67,534,386 (GRCm39) T95M possibly damaging Het
Uroc1 G T 6: 90,334,519 (GRCm39) R577L probably damaging Het
Vmn2r86 T A 10: 130,289,484 (GRCm39) D137V probably benign Het
Xkr7 T C 2: 152,896,873 (GRCm39) Y576H probably damaging Het
Zfp410 A G 12: 84,384,449 (GRCm39) N355D probably damaging Het
Zfp59 C A 7: 27,543,742 (GRCm39) D22E probably damaging Het
Zfp64 C T 2: 168,736,297 (GRCm39) R460H probably damaging Het
Zfp655 T C 5: 145,181,168 (GRCm39) V342A probably damaging Het
Zfp990 G A 4: 145,264,490 (GRCm39) G496E 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
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
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'- GGTCTCATCTTGTGCACTGTT -3'
(R):5'- AGCTATGCTCCATTCACAGCTC -3'

Sequencing Primer
(F):5'- GCCATTCTGGGAAAAGCAGTTCTTC -3'
(R):5'- GAGACTTAGCTCAGGTCTGCATAC -3'
Posted On 2016-03-17