Incidental Mutation 'IGL03194:Nelfcd'
ID412737
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 #IGL03194
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgre5 T C 8: 83,734,018 S64G possibly damaging Het
Clcn7 T C 17: 25,150,548 V306A probably damaging Het
Clec4b2 G A 6: 123,200,987 G87D probably benign Het
Disp2 A T 2: 118,787,629 R219W probably damaging Het
Dstyk A T 1: 132,456,316 probably benign Het
F830045P16Rik T C 2: 129,460,320 S451G possibly damaging Het
Fam155a T C 8: 9,232,975 D358G probably damaging Het
Fat2 T A 11: 55,310,995 T418S probably benign Het
Fto G A 8: 91,409,787 D228N probably damaging Het
Gins4 A T 8: 23,234,746 probably benign Het
Gm10220 T A 5: 26,121,233 R40W probably damaging Het
Gm11149 G A 9: 49,546,346 probably benign Het
Gm5431 T G 11: 48,895,537 probably benign Het
Hebp1 A G 6: 135,155,192 M59T probably benign Het
Lrp1 A T 10: 127,568,685 V1989D probably damaging Het
Lrrc6 A T 15: 66,442,199 D317E probably benign Het
Ltc4s T C 11: 50,236,571 *151W probably null Het
Map3k21 A G 8: 125,924,062 T268A possibly damaging Het
Mdp1 A G 14: 55,658,987 L164P probably damaging Het
Mroh4 T C 15: 74,611,539 T650A probably damaging Het
Mss51 T C 14: 20,485,097 N202D probably benign Het
Mtus2 G A 5: 148,107,103 A834T probably damaging Het
Ncoa6 A G 2: 155,415,868 M585T possibly damaging Het
Npvf A C 6: 50,650,898 D180E possibly damaging Het
Nup188 A T 2: 30,304,334 Y173F possibly damaging Het
Oas3 C A 5: 120,758,953 A868S probably damaging Het
Pkhd1l1 A G 15: 44,518,135 T1086A probably damaging Het
Pla2g6 G A 15: 79,317,785 P62L probably damaging Het
Rara T C 11: 98,971,664 M297T possibly damaging Het
Tmc1 T C 19: 20,804,653 E567G probably damaging Het
Tnxb C T 17: 34,695,947 Q1970* probably null Het
Usp11 T C X: 20,712,417 I162T probably benign Het
Utrn A G 10: 12,406,429 probably benign Het
Zfhx3 A G 8: 108,794,727 E827G probably 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
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
IGL03289: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