Incidental Mutation 'IGL03289:Nelfcd'
ID415832
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nelfcd
Ensembl Gene ENSMUSG00000016253
Gene Namenegative elongation factor complex member C/D, Th1l
Synonymstrihydrophobin 1, Th1l, 2410003I03Rik
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.953) question?
Stock #IGL03289
Quality Score
Status
Chromosome2
Chromosomal Location174415804-174427502 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 174426832 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Threonine at position 559 (A559T)
Ref Sequence ENSEMBL: ENSMUSP00000016397 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000016397] [ENSMUST00000016400] [ENSMUST00000109075]
Predicted Effect possibly damaging
Transcript: ENSMUST00000016397
AA Change: A559T

PolyPhen 2 Score 0.872 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000016397
Gene: ENSMUSG00000016253
AA Change: A559T

DomainStartEndE-ValueType
Pfam:TH1 11 604 6.5e-276 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000016400
SMART Domains Protein: ENSMUSP00000016400
Gene: ENSMUSG00000016256

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
Pept_C1 64 301 5.46e-51 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000109075
AA Change: A543T

PolyPhen 2 Score 0.672 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000104703
Gene: ENSMUSG00000016253
AA Change: A543T

DomainStartEndE-ValueType
Pfam:TH1 10 590 5.6e-303 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129716
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137986
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139390
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143683
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The NELF complex of proteins interacts with the DSIF protein complex to repress transcriptional elongation by RNA polymerase II. The protein encoded by this gene is an essential part of the NELF complex. Alternative translation initiation site usage results in the formation of two isoforms with different N-termini. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap10 A G 11: 61,877,968 probably benign Het
Akap9 A G 5: 4,077,261 Y3703C probably damaging Het
Ankk1 A G 9: 49,415,695 V728A probably benign Het
B3galt2 T C 1: 143,647,304 Y393H probably damaging Het
Cd163l1 T C 7: 140,229,060 probably null Het
Clcn4 T A 7: 7,284,258 I664F probably damaging Het
Clec2e A T 6: 129,098,455 I41N probably damaging Het
Col2a1 A T 15: 97,980,881 N845K unknown Het
Cubn T G 2: 13,426,967 I1272L probably benign Het
Dnajc5 T C 2: 181,547,467 Y79H probably damaging Het
Eml6 G T 11: 29,795,328 A1006E possibly damaging Het
Igsf5 A T 16: 96,525,432 D271V possibly damaging Het
Kalrn G A 16: 34,385,297 A70V possibly damaging Het
Kcnn2 A T 18: 45,677,044 K309N probably damaging Het
Lrch4 T C 5: 137,633,577 S22P probably damaging Het
Mcpt2 A T 14: 56,044,337 I215F probably damaging Het
Mrc1 T C 2: 14,308,823 probably null Het
Olfr364-ps1 C T 2: 37,146,578 A122V probably damaging Het
Osbp2 A G 11: 3,863,380 V163A probably benign Het
Pla2g6 G A 15: 79,317,785 P62L probably damaging Het
Senp1 G T 15: 98,085,045 H20Q probably damaging Het
Slc16a6 A G 11: 109,463,499 Y31H probably damaging Het
Thbs2 T A 17: 14,690,122 N72Y probably benign Het
Usp34 T A 11: 23,393,818 S1366T possibly damaging Het
Vmn1r216 T A 13: 23,100,012 D288E possibly damaging Het
Vmn2r11 T C 5: 109,048,922 probably benign Het
Vnn3 A T 10: 23,865,837 S347C possibly damaging Het
Yme1l1 T C 2: 23,160,268 V37A probably benign Het
Zfp597 A T 16: 3,865,922 D323E possibly damaging Het
Other mutations in Nelfcd
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01999:Nelfcd APN 2 174423515 splice site probably benign
IGL02175:Nelfcd APN 2 174420382 missense probably benign 0.01
IGL02955:Nelfcd APN 2 174422598 missense probably damaging 0.98
IGL03193:Nelfcd APN 2 174426832 missense possibly damaging 0.87
IGL03194:Nelfcd APN 2 174426832 missense possibly damaging 0.87
IGL03203:Nelfcd APN 2 174426832 missense possibly damaging 0.87
IGL03217:Nelfcd APN 2 174426832 missense possibly damaging 0.87
IGL03237:Nelfcd APN 2 174426832 missense possibly damaging 0.87
IGL03273:Nelfcd APN 2 174426832 missense possibly damaging 0.87
IGL03278:Nelfcd APN 2 174426832 missense possibly damaging 0.87
IGL03365:Nelfcd APN 2 174426832 missense possibly damaging 0.87
IGL03398:Nelfcd APN 2 174426832 missense possibly damaging 0.87
IGL03405:Nelfcd APN 2 174426832 missense possibly damaging 0.87
IGL03407:Nelfcd APN 2 174426832 missense possibly damaging 0.87
R0593:Nelfcd UTSW 2 174423430 missense probably benign 0.00
R0751:Nelfcd UTSW 2 174423014 missense probably benign 0.03
R1852:Nelfcd UTSW 2 174423978 splice site probably null
R2040:Nelfcd UTSW 2 174420082 missense probably damaging 1.00
R3606:Nelfcd UTSW 2 174426544 missense probably benign 0.10
R3716:Nelfcd UTSW 2 174423005 missense possibly damaging 0.51
R4235:Nelfcd UTSW 2 174427048 missense probably damaging 1.00
R4607:Nelfcd UTSW 2 174423162 missense probably benign 0.01
R4775:Nelfcd UTSW 2 174426576 missense probably damaging 0.96
R5104:Nelfcd UTSW 2 174426366 missense probably benign 0.10
R5859:Nelfcd UTSW 2 174427063 makesense probably null
R6025:Nelfcd UTSW 2 174426818 missense probably damaging 1.00
R6104:Nelfcd UTSW 2 174423457 missense probably damaging 0.99
R6280:Nelfcd UTSW 2 174415946 missense probably benign
R7249:Nelfcd UTSW 2 174423206 critical splice donor site probably null
R7382:Nelfcd UTSW 2 174423383 missense probably benign 0.00
R7532:Nelfcd UTSW 2 174426396 missense probably damaging 1.00
R7545:Nelfcd UTSW 2 174423978 splice site probably null
R7766:Nelfcd UTSW 2 174426832 missense possibly damaging 0.87
Z1088:Nelfcd UTSW 2 174426494 frame shift probably null
Posted On2016-08-02