Incidental Mutation 'IGL03255:Nelfb'
ID 414622
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 # IGL03255
Quality Score
Status
Chromosome 2
Chromosomal Location 25089724-25101501 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 25093207 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Asparagine at position 482 (H482N)
Ref Sequence ENSEMBL: ENSMUSP00000057731 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059849]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000059849
AA Change: H482N

PolyPhen 2 Score 0.206 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000057731
Gene: ENSMUSG00000013465
AA Change: H482N

DomainStartEndE-ValueType
Pfam:COBRA1 107 578 3.5e-248 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000124900
AA Change: H51N
SMART Domains Protein: ENSMUSP00000115296
Gene: ENSMUSG00000013465
AA Change: H51N

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 probably benign
Transcript: ENSMUST00000140934
SMART Domains Protein: ENSMUSP00000115698
Gene: ENSMUSG00000013465

DomainStartEndE-ValueType
Pfam:COBRA1 40 204 9.7e-106 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146729
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205741
AA Change: H431N
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147890
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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1600012P17Rik A G 1: 158,796,921 (GRCm39) noncoding transcript Het
Alpk3 A G 7: 80,742,310 (GRCm39) D709G probably benign Het
Capn3 G T 2: 120,320,189 (GRCm39) R309L probably damaging Het
Card11 T C 5: 140,884,086 (GRCm39) I398V possibly damaging Het
Cps1 T A 1: 67,184,960 (GRCm39) Y162* probably null Het
Defa26 A T 8: 22,108,257 (GRCm39) D20V probably damaging Het
Defa39 T C 8: 22,193,534 (GRCm39) T29A possibly damaging Het
Dnah8 T G 17: 30,960,355 (GRCm39) L2244R probably damaging Het
Fhad1 T A 4: 141,700,191 (GRCm39) N353I possibly damaging Het
Flt1 T A 5: 147,525,331 (GRCm39) probably benign Het
Glyr1 G A 16: 4,866,621 (GRCm39) probably null Het
Gm10220 A G 5: 26,321,899 (GRCm39) S258P possibly damaging Het
Lama3 A T 18: 12,672,760 (GRCm39) D845V probably damaging Het
Myh2 T A 11: 67,084,051 (GRCm39) L1558Q probably damaging Het
Or5ae1 T C 7: 84,565,725 (GRCm39) L246P possibly damaging Het
Or5p58 A G 7: 107,694,024 (GRCm39) V251A probably damaging Het
Ppfia2 A G 10: 106,732,368 (GRCm39) T972A possibly damaging Het
Slc5a4a G A 10: 75,986,346 (GRCm39) V85M probably damaging Het
Slc6a12 T G 6: 121,331,246 (GRCm39) C166G probably damaging Het
Tm7sf3 T C 6: 146,507,618 (GRCm39) probably benign Het
Tmem94 G T 11: 115,682,894 (GRCm39) probably benign Het
Tmod2 T C 9: 75,484,540 (GRCm39) probably benign Het
Tmprss11c T A 5: 86,419,341 (GRCm39) I73F probably damaging Het
Vmn1r10 A G 6: 57,090,911 (GRCm39) M168V probably benign Het
Vmn2r77 T A 7: 86,461,131 (GRCm39) M819K probably benign Het
Vmo1 C T 11: 70,405,236 (GRCm39) probably null Het
Ywhab A G 2: 163,855,936 (GRCm39) D104G probably benign Het
Other mutations in Nelfb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00547:Nelfb APN 2 25,094,300 (GRCm39) missense possibly damaging 0.94
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
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 2016-08-02