Incidental Mutation 'R7025:Nelfb'
ID 545885
Institutional Source Beutler Lab
Gene Symbol Nelfb
Ensembl Gene ENSMUSG00000013465
Gene Name negative elongation factor complex member B
Synonyms A730008L03Rik, Cobra1
MMRRC Submission 045126-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7025 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 25089724-25101501 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 25100505 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glycine at position 155 (V155G)
Ref Sequence ENSEMBL: ENSMUSP00000057731 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043774] [ENSMUST00000059849] [ENSMUST00000114363]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000043774
SMART Domains Protein: ENSMUSP00000037603
Gene: ENSMUSG00000036770

DomainStartEndE-ValueType
Pfam:SHIPPO-rpt 103 145 9.5e-4 PFAM
Pfam:SHIPPO-rpt 226 255 1.4e-3 PFAM
Pfam:SHIPPO-rpt 265 291 1.4e-3 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000059849
AA Change: V155G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000057731
Gene: ENSMUSG00000013465
AA Change: V155G

DomainStartEndE-ValueType
Pfam:COBRA1 107 578 3.5e-248 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000114363
SMART Domains Protein: ENSMUSP00000110003
Gene: ENSMUSG00000036770

DomainStartEndE-ValueType
Pfam:SHIPPO-rpt 48 79 2.8e-4 PFAM
Pfam:SHIPPO-rpt 110 136 1.2e-1 PFAM
Pfam:SHIPPO-rpt 152 200 3.5e-1 PFAM
Pfam:SHIPPO-rpt 210 248 1.9e-3 PFAM
Predicted Effect
SMART Domains Protein: ENSMUSP00000115698
Gene: ENSMUSG00000013465
AA Change: V21G

DomainStartEndE-ValueType
Pfam:COBRA1 40 204 9.7e-106 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.6%
  • 20x: 98.8%
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acbd4 T A 11: 102,995,364 (GRCm39) L90M probably damaging Het
Acot7 T C 4: 152,262,646 (GRCm39) S7P unknown Het
Ahcyl2 T C 6: 29,908,420 (GRCm39) Y388H probably damaging Het
Atp1a2 T A 1: 172,112,117 (GRCm39) R593* probably null Het
Bicral T C 17: 47,112,594 (GRCm39) T869A probably benign Het
Brca2 C T 5: 150,463,943 (GRCm39) P1236S probably benign Het
Cacna2d1 C T 5: 16,557,666 (GRCm39) Q699* probably null Het
Ccser2 T C 14: 36,661,964 (GRCm39) N407D probably damaging Het
Cd300lg A G 11: 101,933,900 (GRCm39) Y49C probably damaging Het
Cdh12 C A 15: 21,358,900 (GRCm39) T108K probably damaging Het
Ctnnd1 A T 2: 84,440,950 (GRCm39) I715K possibly damaging Het
Cyp17a1 T A 19: 46,659,419 (GRCm39) D137V probably damaging Het
Dbr1 A G 9: 99,458,036 (GRCm39) T19A probably damaging Het
Dnah3 C T 7: 119,629,233 (GRCm39) A1441T possibly damaging Het
Dpt G A 1: 164,624,508 (GRCm39) D70N probably damaging Het
Elk4 C A 1: 131,947,107 (GRCm39) P366Q probably damaging Het
Eml4 A C 17: 83,732,740 (GRCm39) D131A probably benign Het
Faap24 A G 7: 35,092,296 (GRCm39) I207T possibly damaging Het
Fam219a T C 4: 41,521,925 (GRCm39) S41G probably benign Het
Gask1b T C 3: 79,793,855 (GRCm39) Y108H probably damaging Het
Ifi203 T C 1: 173,755,951 (GRCm39) probably benign Het
Inpp4a T C 1: 37,408,504 (GRCm39) V295A probably benign Het
Kif2a A G 13: 107,119,102 (GRCm39) Y267H probably damaging Het
Kprp T A 3: 92,732,504 (GRCm39) Q182L probably benign Het
Krt90 T C 15: 101,465,610 (GRCm39) K337R possibly damaging Het
Lrp2 T A 2: 69,313,372 (GRCm39) Y2453F possibly damaging Het
Magel2 A C 7: 62,029,535 (GRCm39) Y813S unknown Het
Myh7 C A 14: 55,212,101 (GRCm39) E1548* probably null Het
Myh8 A G 11: 67,188,365 (GRCm39) T1009A probably benign Het
Nab2 T A 10: 127,502,377 (GRCm39) probably benign Het
Neb T C 2: 52,186,285 (GRCm39) D929G possibly damaging Het
Nmur1 C A 1: 86,315,570 (GRCm39) M65I possibly damaging Het
Nop56 C T 2: 130,119,801 (GRCm39) R81* probably null Het
Npnt C T 3: 132,614,157 (GRCm39) C47Y probably damaging Het
Nrp1 G T 8: 129,207,435 (GRCm39) C610F probably damaging Het
Or4a71 T A 2: 89,357,948 (GRCm39) I269F probably damaging Het
Or5d45 T C 2: 88,153,606 (GRCm39) K148E probably damaging Het
Or6c63-ps1 T A 10: 128,900,544 (GRCm39) M1L probably benign Het
Pax5 G A 4: 44,679,501 (GRCm39) Q93* probably null Het
Pcnt G T 10: 76,239,669 (GRCm39) Q1273K probably damaging Het
Pde4dip G A 3: 97,631,499 (GRCm39) Q1137* probably null Het
Pfas A T 11: 68,881,586 (GRCm39) D959E probably benign Het
Pira13 T A 7: 3,824,261 (GRCm39) K629* probably null Het
Prex1 TCCGACCCC TCCGACCCCGACCCC 2: 166,455,107 (GRCm39) probably benign Het
Prpf40b C T 15: 99,204,281 (GRCm39) Q182* probably null Het
Ptk2 G A 15: 73,093,658 (GRCm39) P854S possibly damaging Het
Rpe65 A C 3: 159,328,322 (GRCm39) E406A probably damaging Het
Serpina3k A T 12: 104,307,401 (GRCm39) Y211F probably benign Het
Shkbp1 T C 7: 27,054,706 (GRCm39) I65V possibly damaging Het
Slc22a29 G A 19: 8,137,944 (GRCm39) P544S probably benign Het
Stab2 T C 10: 86,686,701 (GRCm39) D2281G probably damaging Het
Tjp2 A G 19: 24,110,052 (GRCm39) M64T probably benign Het
Tnfrsf8 C T 4: 145,000,973 (GRCm39) V378I possibly damaging Het
Trpm1 A T 7: 63,876,462 (GRCm39) probably null Het
Ubqln3 A G 7: 103,790,482 (GRCm39) I536T probably benign Het
Vmn1r44 A G 6: 89,870,736 (GRCm39) T161A possibly damaging Het
Vmn2r108 T A 17: 20,691,345 (GRCm39) I393F possibly damaging 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
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
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
Predicted Primers PCR Primer
(F):5'- TCAACCAGGGGAAGTGTGTG -3'
(R):5'- GTCTCTACCAGGAAGCTGCTTATC -3'

Sequencing Primer
(F):5'- TGTGTGATATAAAGAAGGGGCCC -3'
(R):5'- CTACCAGGAAGCTGCTTATCTTTGTG -3'
Posted On 2019-05-13