Incidental Mutation 'IGL03407:Nelfcd'
ID 421637
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nelfcd
Ensembl Gene ENSMUSG00000016253
Gene Name negative elongation factor complex member C/D, Th1l
Synonyms Th1l, 2410003I03Rik, trihydrophobin 1
Accession Numbers
Essential gene? Probably essential (E-score: 0.945) question?
Stock # IGL03407
Quality Score
Status
Chromosome 2
Chromosomal Location 174257623-174269298 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 174268625 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q922L6
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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb5 A G 12: 118,904,111 (GRCm39) V198A probably benign Het
Acot3 A T 12: 84,105,415 (GRCm39) D294V probably damaging Het
Dnajc10 T C 2: 80,176,985 (GRCm39) Y647H probably damaging Het
Eml6 G A 11: 29,856,330 (GRCm39) L67F probably damaging Het
Fbxw8 A G 5: 118,280,741 (GRCm39) C139R probably damaging Het
Fscb G T 12: 64,520,269 (GRCm39) A399D probably damaging Het
Gm21726 T C 13: 90,731,760 (GRCm39) noncoding transcript Het
Lama2 A T 10: 27,223,017 (GRCm39) V423D probably damaging Het
Mctp2 A T 7: 71,861,400 (GRCm39) I415N probably benign Het
Myh13 A G 11: 67,242,978 (GRCm39) T964A probably damaging Het
Ncf4 A G 15: 78,138,981 (GRCm39) probably benign Het
Or3a1d G T 11: 74,238,371 (GRCm39) T13K possibly damaging Het
Or51m1 A T 7: 103,578,158 (GRCm39) N43Y probably damaging Het
Plch2 A T 4: 155,074,255 (GRCm39) V870E probably damaging Het
Prss55 A T 14: 64,314,539 (GRCm39) D210E probably damaging Het
Rad51ap2 A G 12: 11,507,198 (GRCm39) I373M possibly damaging Het
Rbm12 C A 2: 155,939,484 (GRCm39) G263* probably null Het
Rnf167 G T 11: 70,541,879 (GRCm39) probably null Het
Scn10a A G 9: 119,477,237 (GRCm39) I715T probably damaging Het
Spata31f1a A T 4: 42,850,528 (GRCm39) W543R probably benign Het
St8sia1 T C 6: 142,859,775 (GRCm39) N118S possibly damaging Het
Tas1r3 A G 4: 155,946,439 (GRCm39) probably null Het
Thbs2 A G 17: 14,893,535 (GRCm39) S882P probably benign Het
Tmem25 A G 9: 44,707,636 (GRCm39) S220P probably damaging Het
Tnpo1 C T 13: 99,000,348 (GRCm39) E340K probably damaging Het
Trex1 C T 9: 108,887,395 (GRCm39) G199S probably damaging Het
Ttn T C 2: 76,544,545 (GRCm39) I32814V probably damaging Het
Vmn2r15 T A 5: 109,434,185 (GRCm39) R840* probably null Het
Vps13b A T 15: 35,640,012 (GRCm39) Q1294L possibly damaging Het
Zdhhc7 T C 8: 120,812,131 (GRCm39) N164D probably damaging Het
Other mutations in Nelfcd
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01999:Nelfcd APN 2 174,265,308 (GRCm39) splice site probably benign
IGL02175:Nelfcd APN 2 174,262,175 (GRCm39) missense probably benign 0.01
IGL02955:Nelfcd APN 2 174,264,391 (GRCm39) missense probably damaging 0.98
IGL03193:Nelfcd APN 2 174,268,625 (GRCm39) missense possibly damaging 0.87
IGL03194:Nelfcd APN 2 174,268,625 (GRCm39) missense possibly damaging 0.87
IGL03203:Nelfcd APN 2 174,268,625 (GRCm39) missense possibly damaging 0.87
IGL03217:Nelfcd APN 2 174,268,625 (GRCm39) missense possibly damaging 0.87
IGL03237:Nelfcd APN 2 174,268,625 (GRCm39) missense possibly damaging 0.87
IGL03273:Nelfcd APN 2 174,268,625 (GRCm39) missense possibly damaging 0.87
IGL03278:Nelfcd APN 2 174,268,625 (GRCm39) missense possibly damaging 0.87
IGL03289:Nelfcd APN 2 174,268,625 (GRCm39) missense possibly damaging 0.87
IGL03365:Nelfcd APN 2 174,268,625 (GRCm39) missense possibly damaging 0.87
IGL03398:Nelfcd APN 2 174,268,625 (GRCm39) missense possibly damaging 0.87
IGL03405:Nelfcd APN 2 174,268,625 (GRCm39) missense possibly damaging 0.87
R0593:Nelfcd UTSW 2 174,265,223 (GRCm39) missense probably benign 0.00
R0751:Nelfcd UTSW 2 174,264,807 (GRCm39) missense probably benign 0.03
R1852:Nelfcd UTSW 2 174,265,771 (GRCm39) splice site probably null
R2040:Nelfcd UTSW 2 174,261,875 (GRCm39) missense probably damaging 1.00
R3606:Nelfcd UTSW 2 174,268,337 (GRCm39) missense probably benign 0.10
R3716:Nelfcd UTSW 2 174,264,798 (GRCm39) missense possibly damaging 0.51
R4235:Nelfcd UTSW 2 174,268,841 (GRCm39) missense probably damaging 1.00
R4607:Nelfcd UTSW 2 174,264,955 (GRCm39) missense probably benign 0.01
R4775:Nelfcd UTSW 2 174,268,369 (GRCm39) missense probably damaging 0.96
R5104:Nelfcd UTSW 2 174,268,159 (GRCm39) missense probably benign 0.10
R5859:Nelfcd UTSW 2 174,268,856 (GRCm39) makesense probably null
R6025:Nelfcd UTSW 2 174,268,611 (GRCm39) missense probably damaging 1.00
R6104:Nelfcd UTSW 2 174,265,250 (GRCm39) missense probably damaging 0.99
R6280:Nelfcd UTSW 2 174,257,739 (GRCm39) missense probably benign
R7249:Nelfcd UTSW 2 174,264,999 (GRCm39) critical splice donor site probably null
R7382:Nelfcd UTSW 2 174,265,176 (GRCm39) missense probably benign 0.00
R7532:Nelfcd UTSW 2 174,268,189 (GRCm39) missense probably damaging 1.00
R7545:Nelfcd UTSW 2 174,265,771 (GRCm39) splice site probably null
R7766:Nelfcd UTSW 2 174,268,625 (GRCm39) missense possibly damaging 0.87
R9011:Nelfcd UTSW 2 174,268,717 (GRCm39) missense probably benign 0.15
R9094:Nelfcd UTSW 2 174,265,861 (GRCm39) missense probably damaging 1.00
R9332:Nelfcd UTSW 2 174,264,978 (GRCm39) missense probably benign 0.02
R9486:Nelfcd UTSW 2 174,268,635 (GRCm39) missense probably damaging 1.00
R9695:Nelfcd UTSW 2 174,266,923 (GRCm39) missense probably benign 0.34
Z1088:Nelfcd UTSW 2 174,268,287 (GRCm39) frame shift probably null
Posted On 2016-08-02