Incidental Mutation 'IGL00547:Nelfb'
ID 13381
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nelfb
Ensembl Gene ENSMUSG00000013465
Gene Name negative elongation factor complex member B
Synonyms A730008L03Rik, Cobra1
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL00547
Quality Score
Status
Chromosome 2
Chromosomal Location 25089724-25101501 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 25094300 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Isoleucine at position 354 (M354I)
Ref Sequence ENSEMBL: ENSMUSP00000057731 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059849]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000059849
AA Change: M354I

PolyPhen 2 Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000057731
Gene: ENSMUSG00000013465
AA Change: M354I

DomainStartEndE-ValueType
Pfam:COBRA1 107 578 3.5e-248 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000082985
Predicted Effect probably benign
Transcript: ENSMUST00000124900
SMART Domains Protein: ENSMUSP00000115296
Gene: ENSMUSG00000013465

DomainStartEndE-ValueType
Pfam:COBRA1 1 144 1.2e-47 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128876
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129140
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138199
Predicted Effect unknown
Transcript: ENSMUST00000140934
AA Change: M143I
SMART Domains Protein: ENSMUSP00000115698
Gene: ENSMUSG00000013465
AA Change: M143I

DomainStartEndE-ValueType
Pfam:COBRA1 40 204 9.7e-106 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205741
AA Change: M303I
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147890
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146729
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes subunit B of a metazoan-specific, four-subunit protein complex that regulates promoter-proximal pausing of RNA polymerase II. RNA polymerase II pausing is thought to be important for coordination of gene transcription during embryonic development and stress responses. Consistently, disruption of this gene in mouse causes inner cell mass deficiency and embryonic lethality. In addition, this gene is required for maintenance of mouse embryonic stem cells by preventing expression of developmental genes. In adult mice, conditional deletion of this gene results in cardiomyopathy and impaired response to cardiac stress. Multiple protein isoforms are encoded through the use of a non-AUG (CUG) initiation codon and an alternative downstream AUG initiation codon. In addition, alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2015]
PHENOTYPE: Mice homozygous for a knock-out allele fail to develop inner cell masses and die between E5 and E13.5. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts7 C A 9: 90,076,302 (GRCm39) Q1345K possibly damaging Het
Arhgap40 T C 2: 158,380,546 (GRCm39) probably benign Het
Atp8b4 A G 2: 126,200,817 (GRCm39) C784R probably damaging Het
Bicral T C 17: 47,136,278 (GRCm39) I311V probably benign Het
Cep290 G A 10: 100,346,570 (GRCm39) R551H probably damaging Het
Chd9 A T 8: 91,732,426 (GRCm39) M842L probably damaging Het
Cntn6 A G 6: 104,627,361 (GRCm39) N65D probably damaging Het
Dnah8 C T 17: 31,034,677 (GRCm39) Q4199* probably null Het
Ercc3 T C 18: 32,397,598 (GRCm39) probably benign Het
Gm454 T C 5: 138,205,389 (GRCm39) noncoding transcript Het
Gm7073 A T X: 59,481,748 (GRCm39) D204E probably benign Het
Myo5a A G 9: 75,048,735 (GRCm39) H286R probably benign Het
Oas3 C T 5: 120,915,507 (GRCm39) probably benign Het
Phldb2 A G 16: 45,645,898 (GRCm39) S228P probably benign Het
Pls3 A T X: 74,837,874 (GRCm39) I429N probably damaging Het
Ptprq C T 10: 107,554,402 (GRCm39) V108M probably damaging Het
Rlf A G 4: 121,027,883 (GRCm39) S138P possibly damaging Het
Rpn2 T C 2: 157,156,833 (GRCm39) Y479H probably damaging Het
Sdr16c5 A T 4: 4,012,320 (GRCm39) probably benign Het
Slco6c1 A T 1: 97,015,674 (GRCm39) N372K probably benign Het
Stag2 T C X: 41,335,892 (GRCm39) I563T probably benign Het
Vrk1 T C 12: 106,024,840 (GRCm39) S239P probably damaging Het
Other mutations in Nelfb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01573:Nelfb APN 2 25,093,969 (GRCm39) missense probably damaging 1.00
IGL03109:Nelfb APN 2 25,091,073 (GRCm39) missense possibly damaging 0.95
IGL03255:Nelfb APN 2 25,093,207 (GRCm39) missense probably benign 0.21
R0541:Nelfb UTSW 2 25,093,992 (GRCm39) missense probably benign 0.01
R2046:Nelfb UTSW 2 25,096,323 (GRCm39) missense probably damaging 0.97
R4832:Nelfb UTSW 2 25,099,981 (GRCm39) missense probably damaging 1.00
R4995:Nelfb UTSW 2 25,096,208 (GRCm39) missense probably benign 0.01
R5299:Nelfb UTSW 2 25,100,757 (GRCm39) missense probably benign 0.20
R5663:Nelfb UTSW 2 25,093,501 (GRCm39) missense probably benign 0.01
R5854:Nelfb UTSW 2 25,100,005 (GRCm39) missense probably damaging 1.00
R5987:Nelfb UTSW 2 25,093,900 (GRCm39) missense probably damaging 1.00
R6747:Nelfb UTSW 2 25,093,393 (GRCm39) missense probably benign 0.09
R7025:Nelfb UTSW 2 25,100,505 (GRCm39) missense probably damaging 1.00
R8118:Nelfb UTSW 2 25,095,171 (GRCm39) missense possibly damaging 0.95
R8966:Nelfb UTSW 2 25,090,751 (GRCm39) missense probably damaging 1.00
R9001:Nelfb UTSW 2 25,096,287 (GRCm39) missense probably damaging 1.00
R9085:Nelfb UTSW 2 25,094,292 (GRCm39) missense probably damaging 1.00
R9373:Nelfb UTSW 2 25,095,218 (GRCm39) missense probably damaging 0.99
R9786:Nelfb UTSW 2 25,095,145 (GRCm39) missense probably damaging 1.00
Posted On 2012-12-06