Incidental Mutation 'IGL03289:Nelfcd'
ID 415832
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 # IGL03289
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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap10 A G 11: 61,768,794 (GRCm39) probably benign Het
Akap9 A G 5: 4,127,261 (GRCm39) Y3703C probably damaging Het
Ankk1 A G 9: 49,326,995 (GRCm39) V728A probably benign Het
B3galt2 T C 1: 143,523,042 (GRCm39) Y393H probably damaging Het
Clcn4 T A 7: 7,287,257 (GRCm39) I664F probably damaging Het
Clec2e A T 6: 129,075,418 (GRCm39) I41N probably damaging Het
Col2a1 A T 15: 97,878,762 (GRCm39) N845K unknown Het
Cubn T G 2: 13,431,778 (GRCm39) I1272L probably benign Het
Dnajc5 T C 2: 181,189,260 (GRCm39) Y79H probably damaging Het
Eml6 G T 11: 29,745,328 (GRCm39) A1006E possibly damaging Het
Igsf5 A T 16: 96,326,632 (GRCm39) D271V possibly damaging Het
Kalrn G A 16: 34,205,667 (GRCm39) A70V possibly damaging Het
Kcnn2 A T 18: 45,810,111 (GRCm39) K309N probably damaging Het
Lrch4 T C 5: 137,631,839 (GRCm39) S22P probably damaging Het
Mcpt2 A T 14: 56,281,794 (GRCm39) I215F probably damaging Het
Mrc1 T C 2: 14,313,634 (GRCm39) probably null Het
Or1l4b C T 2: 37,036,590 (GRCm39) A122V probably damaging Het
Osbp2 A G 11: 3,813,380 (GRCm39) V163A probably benign Het
Pla2g6 G A 15: 79,201,985 (GRCm39) P62L probably damaging Het
Scart1 T C 7: 139,808,973 (GRCm39) probably null Het
Senp1 G T 15: 97,982,926 (GRCm39) H20Q probably damaging Het
Slc16a6 A G 11: 109,354,325 (GRCm39) Y31H probably damaging Het
Thbs2 T A 17: 14,910,384 (GRCm39) N72Y probably benign Het
Usp34 T A 11: 23,343,818 (GRCm39) S1366T possibly damaging Het
Vmn1r216 T A 13: 23,284,182 (GRCm39) D288E possibly damaging Het
Vmn2r11 T C 5: 109,196,788 (GRCm39) probably benign Het
Vnn3 A T 10: 23,741,735 (GRCm39) S347C possibly damaging Het
Yme1l1 T C 2: 23,050,280 (GRCm39) V37A probably benign Het
Zfp597 A T 16: 3,683,786 (GRCm39) D323E possibly 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
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
IGL03407: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