Incidental Mutation 'R9001:Nelfb'
ID 684953
Institutional Source Beutler Lab
Gene Symbol Nelfb
Ensembl Gene ENSMUSG00000013465
Gene Name negative elongation factor complex member B
Synonyms A730008L03Rik, Cobra1
MMRRC Submission 068832-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9001 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 25089724-25101501 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 25096287 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 274 (R274L)
Ref Sequence ENSEMBL: ENSMUSP00000057731 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059849]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000059849
AA Change: R274L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000057731
Gene: ENSMUSG00000013465
AA Change: R274L

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

DomainStartEndE-ValueType
Pfam:COBRA1 1 144 1.2e-47 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000140934
AA Change: R63L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000115698
Gene: ENSMUSG00000013465
AA Change: R63L

DomainStartEndE-ValueType
Pfam:COBRA1 40 204 9.7e-106 PFAM
Meta Mutation Damage Score 0.6841 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.2%
Validation Efficiency 100% (51/51)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001K19Rik T C 12: 110,637,176 (GRCm39) R26G probably damaging Het
Aldh1a2 A G 9: 71,192,462 (GRCm39) N439S probably damaging Het
Arfgef3 C T 10: 18,522,476 (GRCm39) E517K probably benign Het
Arhgap29 A T 3: 121,775,523 (GRCm39) I89L probably benign Het
Btbd3 G A 2: 138,122,296 (GRCm39) V149I possibly damaging Het
Chst5 T A 8: 112,616,534 (GRCm39) H362L probably benign Het
Cmtm2a A G 8: 105,019,376 (GRCm39) V71A probably benign Het
Col6a4 T A 9: 105,944,370 (GRCm39) I1035F probably benign Het
Csmd2 T C 4: 128,308,079 (GRCm39) V1279A Het
Csmd3 A T 15: 47,596,901 (GRCm39) V1068E Het
Ddx50 T C 10: 62,475,728 (GRCm39) Y331C probably benign Het
Dhx30 A G 9: 109,916,623 (GRCm39) Y631H probably damaging Het
Dnah10 G A 5: 124,852,515 (GRCm39) G1915S probably damaging Het
Dop1a A G 9: 86,436,374 (GRCm39) *2463W probably null Het
Dst G T 1: 34,213,292 (GRCm39) V1395F possibly damaging Het
Dzip1l T C 9: 99,523,907 (GRCm39) probably null Het
Eef1akmt3 T C 10: 126,877,232 (GRCm39) E11G probably benign Het
Elfn2 A G 15: 78,557,438 (GRCm39) F370L probably benign Het
Enam T A 5: 88,637,388 (GRCm39) F104Y probably benign Het
Esd A G 14: 74,983,123 (GRCm39) E258G probably benign Het
Fam181b G A 7: 92,730,356 (GRCm39) A377T unknown Het
Gabrr3 A G 16: 59,282,008 (GRCm39) I454M probably benign Het
Ggt5 T A 10: 75,445,992 (GRCm39) V462D probably benign Het
Gm3250 T C 10: 77,618,178 (GRCm39) S67G unknown Het
Grn A T 11: 102,327,497 (GRCm39) Y286F Het
Gulp1 A G 1: 44,827,709 (GRCm39) I284V probably benign Het
Ilf2 A G 3: 90,390,108 (GRCm39) N140S probably benign Het
Ints4 C A 7: 97,190,276 (GRCm39) P925Q possibly damaging Het
Khdc1b A G 1: 21,454,560 (GRCm39) N88D possibly damaging Het
Kif15 T G 9: 122,826,855 (GRCm39) C798G probably benign Het
Ktn1 T A 14: 47,910,409 (GRCm39) V285E probably damaging Het
Lrif1 A G 3: 106,641,860 (GRCm39) S59G probably benign Het
Mpdz A G 4: 81,299,999 (GRCm39) M333T probably benign Het
Mrm3 A G 11: 76,141,234 (GRCm39) D414G probably benign Het
Msantd5f3 A T 4: 73,575,280 (GRCm39) R320* probably null Het
Mtpap A G 18: 4,380,831 (GRCm39) N170D probably benign Het
Or56a3b T G 7: 104,771,447 (GRCm39) V261G probably damaging Het
Pkm A G 9: 59,572,626 (GRCm39) N44S probably benign Het
Rel T C 11: 23,698,855 (GRCm39) D144G probably damaging Het
Scgb2b21 A T 7: 33,218,956 (GRCm39) probably benign Het
Serpinb1b T A 13: 33,277,743 (GRCm39) D325E probably benign Het
Slco4c1 A G 1: 96,748,956 (GRCm39) C654R probably damaging Het
Srgap2 T C 1: 131,291,798 (GRCm39) K143R probably damaging Het
Szt2 G A 4: 118,235,529 (GRCm39) H2034Y unknown Het
Thbs2 T C 17: 14,889,007 (GRCm39) D1164G probably damaging Het
Tnfrsf10b T C 14: 70,015,250 (GRCm39) S243P possibly damaging Het
Tnxb T A 17: 34,922,410 (GRCm39) S2408T probably benign Het
Topors A T 4: 40,261,696 (GRCm39) D529E possibly damaging Het
Trmt5 T C 12: 73,331,643 (GRCm39) M138V probably benign Het
Vmn2r81 A G 10: 79,104,104 (GRCm39) I242M possibly damaging Het
Zfp523 A G 17: 28,408,915 (GRCm39) Q21R possibly damaging Het
Zfp646 T A 7: 127,478,856 (GRCm39) N344K probably 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
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
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'- CTAGGTTCATGAGCGCAGAG -3'
(R):5'- AGGACTGGGGCACTTGTAT -3'

Sequencing Primer
(F):5'- TTCATGAGCGCAGAGGAGGAG -3'
(R):5'- CTGGAACTCACTTTGTAGACCAGG -3'
Posted On 2021-10-11