Incidental Mutation 'R1973:Nsfl1c'
ID 221192
Institutional Source Beutler Lab
Gene Symbol Nsfl1c
Ensembl Gene ENSMUSG00000027455
Gene Name NSFL1 (p97) cofactor (p47)
Synonyms p47
MMRRC Submission 039986-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.175) question?
Stock # R1973 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 151336102-151353230 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 151347334 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Isoleucine at position 202 (S202I)
Ref Sequence ENSEMBL: ENSMUSP00000086542 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028949] [ENSMUST00000089140] [ENSMUST00000103160]
AlphaFold Q9CZ44
Predicted Effect probably damaging
Transcript: ENSMUST00000028949
AA Change: S200I

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000028949
Gene: ENSMUSG00000027455
AA Change: S200I

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: S202I

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000086542
Gene: ENSMUSG00000027455
AA Change: S202I

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 possibly damaging
Transcript: ENSMUST00000103160
AA Change: S169I

PolyPhen 2 Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000099449
Gene: ENSMUSG00000027455
AA Change: S169I

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: ENSMUST00000139229
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156182
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146695
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153333
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.9%
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1b A C 5: 8,862,746 (GRCm39) I143L probably benign Het
Acp7 T A 7: 28,307,414 (GRCm39) D481V probably damaging Het
AI597479 T A 1: 43,150,286 (GRCm39) I132K probably benign Het
Anxa13 T C 15: 58,228,030 (GRCm39) noncoding transcript Het
Brca1 A T 11: 101,417,229 (GRCm39) C302S probably benign Het
Brd8 T A 18: 34,741,066 (GRCm39) D420V probably damaging Het
Cacna1g A T 11: 94,350,603 (GRCm39) V414E possibly damaging Het
Ccdc142 T A 6: 83,079,544 (GRCm39) C294S probably benign Het
Cdh20 G A 1: 109,988,862 (GRCm39) V255I probably benign Het
Chat C T 14: 32,146,148 (GRCm39) V342I probably benign Het
Chd6 A G 2: 160,808,307 (GRCm39) S1636P probably damaging Het
Clec4a1 A G 6: 122,901,793 (GRCm39) probably null Het
Col6a3 A T 1: 90,731,897 (GRCm39) I1452N probably damaging Het
Dennd2c T C 3: 103,039,014 (GRCm39) V54A probably benign Het
Dnah1 C T 14: 30,987,348 (GRCm39) W3550* probably null Het
Efl1 T C 7: 82,412,085 (GRCm39) S825P probably damaging Het
Entrep2 A T 7: 64,425,516 (GRCm39) I192N possibly damaging Het
Faxc G A 4: 21,993,405 (GRCm39) E350K probably benign Het
Frem2 T A 3: 53,559,653 (GRCm39) Y1618F probably benign Het
Fubp3 A G 2: 31,493,298 (GRCm39) T6A probably benign Het
Gm5814 A T 17: 47,721,474 (GRCm39) M63L probably benign Het
Gpr149 T C 3: 62,438,216 (GRCm39) K647R probably benign Het
Iqgap3 T A 3: 87,991,235 (GRCm39) probably null Het
Kcnh3 T C 15: 99,127,281 (GRCm39) V359A probably damaging Het
Kit G A 5: 75,776,102 (GRCm39) A295T probably damaging Het
Krt77 G T 15: 101,769,679 (GRCm39) A397E probably damaging Het
Mis18bp1 G C 12: 65,195,850 (GRCm39) S638* probably null Het
Neurl4 C T 11: 69,800,118 (GRCm39) P1091S probably benign Het
Nod2 A T 8: 89,379,501 (GRCm39) M8L probably damaging Het
Nos1 A G 5: 118,074,491 (GRCm39) T1046A possibly damaging Het
Nuak2 A T 1: 132,258,340 (GRCm39) H257L probably damaging Het
Nwd1 T C 8: 73,431,590 (GRCm39) V1195A possibly damaging Het
Or10k2 T C 8: 84,268,421 (GRCm39) V216A probably benign Het
Or2ag12 T C 7: 106,277,426 (GRCm39) D89G probably benign Het
Or52a20 T A 7: 103,365,804 (GRCm39) M1K probably null Het
Or8b40 T A 9: 38,027,863 (GRCm39) M257K possibly damaging Het
Or8g51 A G 9: 38,609,164 (GRCm39) V170A probably damaging Het
Pclo G T 5: 14,726,073 (GRCm39) probably null Het
Pnpla7 A G 2: 24,906,629 (GRCm39) D664G probably damaging Het
Prl8a1 G A 13: 27,760,917 (GRCm39) T105I probably benign Het
Ptger1 C A 8: 84,396,083 (GRCm39) T380K probably benign Het
Ptk7 G A 17: 46,897,733 (GRCm39) Q282* probably null Het
Ptpn18 G T 1: 34,502,190 (GRCm39) D45Y probably damaging Het
Rab11fip3 T C 17: 26,243,365 (GRCm39) D589G probably damaging Het
Rara A G 11: 98,862,496 (GRCm39) N299S possibly damaging Het
Rpl13a T A 7: 44,775,419 (GRCm39) K368* probably null Het
Rslcan18 T C 13: 67,256,087 (GRCm39) probably benign Het
Rtel1 A G 2: 180,993,419 (GRCm39) Y731C probably benign Het
Sec16a A T 2: 26,316,501 (GRCm39) S1666R probably damaging Het
Sis A G 3: 72,828,337 (GRCm39) F1217S probably damaging Het
Slc10a7 T A 8: 79,423,962 (GRCm39) probably null Het
Slc22a7 A G 17: 46,748,016 (GRCm39) V214A probably damaging Het
Slc26a8 T C 17: 28,882,579 (GRCm39) I249V probably benign Het
Slc38a4 T C 15: 96,897,478 (GRCm39) K446E probably benign Het
Sned1 G A 1: 93,192,795 (GRCm39) G361S probably damaging Het
Spef2 T G 15: 9,663,152 (GRCm39) *876C probably null Het
Spink11 A G 18: 44,329,205 (GRCm39) C14R unknown Het
Stk4 C T 2: 163,942,448 (GRCm39) T360M probably benign Het
Tnfaip3 T C 10: 18,880,252 (GRCm39) N605S probably damaging Het
Trpc1 A G 9: 95,605,308 (GRCm39) M283T probably benign Het
Ttn A G 2: 76,544,706 (GRCm39) S32799P probably damaging Het
Ttn A G 2: 76,550,443 (GRCm39) I31613T probably damaging Het
Ugt1a10 A T 1: 87,983,769 (GRCm39) Y189F probably damaging Het
Usp32 G T 11: 84,994,757 (GRCm39) L52I probably benign Het
Usp33 A G 3: 152,065,923 (GRCm39) T68A possibly damaging Het
Vmn1r7 A G 6: 57,002,011 (GRCm39) F83S probably benign Het
Vmn2r5 C T 3: 64,411,642 (GRCm39) E309K probably damaging Het
Vps26c T C 16: 94,302,405 (GRCm39) N267S probably damaging Het
Wdr43 A G 17: 71,947,235 (GRCm39) N364D probably benign Het
Zdbf2 C A 1: 63,348,860 (GRCm39) P2413Q unknown 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
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'- AACCTGCGTCATAGCATGTC -3'
(R):5'- GCTATGCCTCAAGGAAAACAG -3'

Sequencing Primer
(F):5'- GCGTCATAGCATGTCCCTAG -3'
(R):5'- CAGCTAAAAATGGACAAGGTTTTTGG -3'
Posted On 2014-08-25