Incidental Mutation 'R0541:Nelfb'
ID49891
Institutional Source Beutler Lab
Gene Symbol Nelfb
Ensembl Gene ENSMUSG00000013465
Gene Namenegative elongation factor complex member B
SynonymsA730008L03Rik, Cobra1
MMRRC Submission 038733-MU
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R0541 (G1)
Quality Score186
Status Not validated
Chromosome2
Chromosomal Location25199712-25211489 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 25203980 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 385 (D385E)
Ref Sequence ENSEMBL: ENSMUSP00000057731 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059849]
Predicted Effect probably benign
Transcript: ENSMUST00000059849
AA Change: D385E

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000057731
Gene: ENSMUSG00000013465
AA Change: D385E

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: D174E
SMART Domains Protein: ENSMUSP00000115698
Gene: ENSMUSG00000013465
AA Change: D174E

DomainStartEndE-ValueType
Pfam:COBRA1 40 204 9.7e-106 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146729
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147890
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205741
AA Change: D334E
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.9%
Validation Efficiency 96% (64/67)
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933402N03Rik T C 7: 131,139,143 M115V probably benign Het
4933415A04Rik TTGTGTGTGTGTGTGTGTGTATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT TTGTGTGTGTGTGTGTGTATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT 11: 43,587,400 probably null Het
Abca7 C T 10: 80,007,351 A1220V probably benign Het
Adamts19 G A 18: 58,927,300 probably null Het
Agbl1 G A 7: 76,409,245 V194M probably benign Het
Arhgap20 G T 9: 51,849,663 S902I probably damaging Het
Atp11b T G 3: 35,806,944 D193E probably damaging Het
B3gntl1 A T 11: 121,644,604 probably benign Het
C2cd2 T C 16: 97,922,296 E7G possibly damaging Het
Camta2 A G 11: 70,681,621 L259P probably benign Het
Ccni T C 5: 93,187,704 N192D probably benign Het
Cgnl1 A G 9: 71,651,253 I946T possibly damaging Het
Chil3 T C 3: 106,161,232 probably null Het
Cntn5 A G 9: 9,673,402 probably benign Het
Cpn2 C T 16: 30,259,351 G511S possibly damaging Het
Dagla C A 19: 10,254,806 probably null Het
Dcc T C 18: 71,259,015 N1440S probably damaging Het
Drosha T A 15: 12,907,388 N1069K probably benign Het
Edc4 A G 8: 105,889,428 T812A probably benign Het
Eml4 A G 17: 83,440,042 I238V probably benign Het
Ep400 T C 5: 110,705,016 T1288A unknown Het
Fastkd1 A C 2: 69,702,406 L539R probably damaging Het
Fbln7 G A 2: 128,877,534 probably benign Het
Fbxo39 A G 11: 72,318,471 I386V probably benign Het
Gm17430 T C 18: 9,726,267 K135R probably damaging Het
Gm3646 T A 1: 39,804,323 T8S unknown Het
Gtsf1 A T 15: 103,421,192 V100E possibly damaging Het
Helz2 A G 2: 181,234,825 F1292S possibly damaging Het
Igf2bp3 G A 6: 49,107,467 probably benign Het
Ip6k2 T G 9: 108,804,627 D252E probably damaging Het
Iqck T A 7: 118,915,594 L232Q probably damaging Het
Kif18b A G 11: 102,915,175 V186A probably damaging Het
Klhl6 T A 16: 19,949,447 probably null Het
Lao1 C T 4: 118,963,802 T75I probably benign Het
Lyst T C 13: 13,681,293 F2400L probably benign Het
Map3k9 A T 12: 81,734,223 S388T possibly damaging Het
Mmp11 G T 10: 75,926,933 H229N probably damaging Het
Myh7 T G 14: 54,974,701 I1529L probably benign Het
Nckap5 G T 1: 126,695,722 D11E possibly damaging Het
Ncoa1 A T 12: 4,323,033 F123I probably damaging Het
Obscn C T 11: 59,081,984 V2288M probably damaging Het
Olfr1428 C T 19: 12,109,520 V9M possibly damaging Het
Olfr1445 A G 19: 12,884,094 Y71C probably damaging Het
Olfr38 A G 6: 42,762,220 H56R probably damaging Het
Olfr686 A T 7: 105,204,160 M61K probably damaging Het
Otog T A 7: 46,269,249 probably benign Het
Oxa1l A G 14: 54,368,189 E375G possibly damaging Het
Pan2 T A 10: 128,308,222 I129K possibly damaging Het
Parp1 A G 1: 180,599,051 I919M probably benign Het
Pnpla7 T C 2: 24,995,293 Y174H probably damaging Het
Polr3b T C 10: 84,638,064 F169S probably damaging Het
Rab10 T C 12: 3,264,743 D45G probably damaging Het
Reln A G 5: 21,980,109 S1537P possibly damaging Het
Sema6d T A 2: 124,665,277 S1045T probably benign Het
Setd2 T C 9: 110,573,673 V1794A probably damaging Het
Spidr T A 16: 15,915,365 I589F probably damaging Het
Stmn4 A C 14: 66,357,939 I165L probably benign Het
Stx5a T C 19: 8,749,937 M177T probably damaging Het
Tll1 T C 8: 64,038,452 probably null Het
Tmem192 T C 8: 64,964,260 Y168H probably damaging Het
Ttc21a C T 9: 119,956,826 probably benign Het
Ush2a A G 1: 188,714,466 probably benign Het
Vezf1 A G 11: 88,081,577 M255V possibly damaging Het
Vmn2r25 A G 6: 123,839,827 F265S probably damaging Het
Vps13a A G 19: 16,704,577 S1021P probably benign Het
Wfdc16 T C 2: 164,635,853 E92G possibly damaging Het
Zkscan2 T C 7: 123,480,200 T845A possibly damaging Het
Other mutations in Nelfb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00547:Nelfb APN 2 25204288 missense possibly damaging 0.94
IGL01573:Nelfb APN 2 25203957 missense probably damaging 1.00
IGL03109:Nelfb APN 2 25201061 missense possibly damaging 0.95
IGL03255:Nelfb APN 2 25203195 missense probably benign 0.21
R2046:Nelfb UTSW 2 25206311 missense probably damaging 0.97
R4832:Nelfb UTSW 2 25209969 missense probably damaging 1.00
R4995:Nelfb UTSW 2 25206196 missense probably benign 0.01
R5299:Nelfb UTSW 2 25210745 missense probably benign 0.20
R5663:Nelfb UTSW 2 25203489 missense probably benign 0.01
R5854:Nelfb UTSW 2 25209993 missense probably damaging 1.00
R5987:Nelfb UTSW 2 25203888 missense probably damaging 1.00
R6747:Nelfb UTSW 2 25203381 missense probably benign 0.09
R7025:Nelfb UTSW 2 25210493 missense probably damaging 1.00
R8118:Nelfb UTSW 2 25205159 missense possibly damaging 0.95
Predicted Primers PCR Primer
(F):5'- TGAATCCTCCATCATGGCTGCAC -3'
(R):5'- GCAAAGCGCATACTGTCCACTTG -3'

Sequencing Primer
(F):5'- ATGGCTGCACCTGCAAAG -3'
(R):5'- GCATACTGTCCACTTGTGAAATTGAG -3'
Posted On2013-06-12