Incidental Mutation 'IGL02955:Nelfcd'
ID365075
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 #IGL02955
Quality Score
Status
Chromosome2
Chromosomal Location174415804-174427502 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 174422598 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Arginine at position 153 (H153R)
Ref Sequence ENSEMBL: ENSMUSP00000016397 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000016397] [ENSMUST00000016400] [ENSMUST00000109075]
Predicted Effect probably damaging
Transcript: ENSMUST00000016397
AA Change: H153R

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000016397
Gene: ENSMUSG00000016253
AA Change: H153R

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: H153R

PolyPhen 2 Score 0.920 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000104703
Gene: ENSMUSG00000016253
AA Change: H153R

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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abr T A 11: 76,419,165 H840L probably damaging Het
Anks1 A G 17: 28,054,317 D970G probably damaging Het
B4galnt4 A G 7: 141,064,678 K162R probably null Het
Bicd2 T C 13: 49,378,215 V311A probably benign Het
Ccdc162 A G 10: 41,561,127 L489P probably damaging Het
Cd55 G T 1: 130,449,482 T38K probably damaging Het
Cep250 C A 2: 155,975,756 A749E probably benign Het
Cntn3 G T 6: 102,278,301 T212N probably damaging Het
Cntnap5c T A 17: 57,892,102 probably benign Het
Dclre1c A G 2: 3,438,052 E83G probably damaging Het
Dok4 T C 8: 94,865,628 N244S probably damaging Het
Dync2h1 T C 9: 7,142,864 T1151A probably benign Het
Fer G A 17: 63,991,717 probably null Het
Gif T C 19: 11,747,663 L6P possibly damaging Het
Hexb A G 13: 97,181,076 probably benign Het
Ints5 T C 19: 8,897,650 L991P probably damaging Het
Itga5 T C 15: 103,350,834 D722G possibly damaging Het
Jup A G 11: 100,376,739 I586T probably benign Het
Lig1 G A 7: 13,296,347 G417R probably damaging Het
Lig4 A G 8: 9,972,103 I559T possibly damaging Het
Mcm3ap A G 10: 76,507,466 I1731V probably benign Het
Mfsd13a T G 19: 46,367,753 V99G possibly damaging Het
Nlrp1b A G 11: 71,169,811 Y724H possibly damaging Het
Npas3 C A 12: 53,501,265 N101K probably damaging Het
Nuf2 A G 1: 169,507,238 probably benign Het
Olfr1349 T C 7: 6,514,683 T249A probably damaging Het
Olfr368 A T 2: 37,332,001 M85L probably benign Het
Olfr740 C T 14: 50,453,985 T311I probably damaging Het
Polr3c A G 3: 96,714,312 Y423H probably damaging Het
Pomgnt2 A G 9: 121,982,890 L275P probably damaging Het
Ptprj T G 2: 90,468,464 probably null Het
Pxdn T C 12: 30,003,157 I931T probably damaging Het
Rad51b C T 12: 79,325,082 Q190* probably null Het
Rpl10a T C 17: 28,328,993 I36T probably damaging Het
Tagap1 T C 17: 6,956,382 H305R probably damaging Het
Tmem154 A G 3: 84,684,201 probably benign Het
Vil1 A G 1: 74,418,523 E105G probably benign Het
Wdfy4 C A 14: 33,076,284 C2055F probably damaging Het
Zfat T C 15: 68,181,114 N277S 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
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
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 On2015-12-18