Mutagenetix > Incidental Mutation

Incidental Mutation 'R0541:Nelfb'

49891

Institutional Source

Beutler Lab

Gene Symbol

Nelfb

Ensembl Gene

ENSMUSG00000013465

Gene Name

negative elongation factor complex member B

Synonyms

A730008L03Rik, Cobra1

MMRRC Submission

038733-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0541 (G1)

Quality Score

186

Status

Not validated

Chromosome

Chromosomal Location

25089724-25101501 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 25093992 bp (GRCm39)

Zygosity

Heterozygous

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]

AlphaFold

no structure available at present

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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
Pfam:COBRA1	40	204	9.7e-106	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205741
AA Change: D334E

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146729

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147890

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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933402N03Rik	T	C	7: 130,740,872 (GRCm39)	M115V	probably benign	Het
4933415A04Rik	TTGTGTGTGTGTGTGTGTGTATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	TTGTGTGTGTGTGTGTGTATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	11: 43,478,227 (GRCm39)		probably null	Het
Abca7	C	T	10: 79,843,185 (GRCm39)	A1220V	probably benign	Het
Adamts19	G	A	18: 59,060,372 (GRCm39)		probably null	Het
Agbl1	G	A	7: 76,058,993 (GRCm39)	V194M	probably benign	Het
Arhgap20	G	T	9: 51,760,963 (GRCm39)	S902I	probably damaging	Het
Atp11b	T	G	3: 35,861,093 (GRCm39)	D193E	probably damaging	Het
B3gntl1	A	T	11: 121,535,430 (GRCm39)		probably benign	Het
C2cd2	T	C	16: 97,723,496 (GRCm39)	E7G	possibly damaging	Het
Camta2	A	G	11: 70,572,447 (GRCm39)	L259P	probably benign	Het
Ccni	T	C	5: 93,335,563 (GRCm39)	N192D	probably benign	Het
Cgnl1	A	G	9: 71,558,535 (GRCm39)	I946T	possibly damaging	Het
Chil3	T	C	3: 106,068,548 (GRCm39)		probably null	Het
Cntn5	A	G	9: 9,673,407 (GRCm39)		probably benign	Het
Cpn2	C	T	16: 30,078,169 (GRCm39)	G511S	possibly damaging	Het
Dagla	C	A	19: 10,232,170 (GRCm39)		probably null	Het
Dcc	T	C	18: 71,392,086 (GRCm39)	N1440S	probably damaging	Het
Drosha	T	A	15: 12,907,474 (GRCm39)	N1069K	probably benign	Het
Edc4	A	G	8: 106,616,060 (GRCm39)	T812A	probably benign	Het
Eml4	A	G	17: 83,747,471 (GRCm39)	I238V	probably benign	Het
Ep400	T	C	5: 110,852,882 (GRCm39)	T1288A	unknown	Het
Fastkd1	A	C	2: 69,532,750 (GRCm39)	L539R	probably damaging	Het
Fbln7	G	A	2: 128,719,454 (GRCm39)		probably benign	Het
Fbxo39	A	G	11: 72,209,297 (GRCm39)	I386V	probably benign	Het
Gm17430	T	C	18: 9,726,267 (GRCm39)	K135R	probably damaging	Het
Gm3646	T	A	1: 39,843,483 (GRCm39)	T8S	unknown	Het
Gtsf1	A	T	15: 103,329,619 (GRCm39)	V100E	possibly damaging	Het
Helz2	A	G	2: 180,876,618 (GRCm39)	F1292S	possibly damaging	Het
Igf2bp3	G	A	6: 49,084,401 (GRCm39)		probably benign	Het
Ip6k2	T	G	9: 108,681,826 (GRCm39)	D252E	probably damaging	Het
Iqck	T	A	7: 118,514,817 (GRCm39)	L232Q	probably damaging	Het
Kif18b	A	G	11: 102,806,001 (GRCm39)	V186A	probably damaging	Het
Klhl6	T	A	16: 19,768,197 (GRCm39)		probably null	Het
Lao1	C	T	4: 118,820,999 (GRCm39)	T75I	probably benign	Het
Lyst	T	C	13: 13,855,878 (GRCm39)	F2400L	probably benign	Het
Map3k9	A	T	12: 81,780,997 (GRCm39)	S388T	possibly damaging	Het
Mmp11	G	T	10: 75,762,767 (GRCm39)	H229N	probably damaging	Het
Myh7	T	G	14: 55,212,158 (GRCm39)	I1529L	probably benign	Het
Nckap5	G	T	1: 126,623,459 (GRCm39)	D11E	possibly damaging	Het
Ncoa1	A	T	12: 4,373,033 (GRCm39)	F123I	probably damaging	Het
Obscn	C	T	11: 58,972,810 (GRCm39)	V2288M	probably damaging	Het
Or2f1b	A	G	6: 42,739,154 (GRCm39)	H56R	probably damaging	Het
Or4d6	C	T	19: 12,086,884 (GRCm39)	V9M	possibly damaging	Het
Or52x1	A	T	7: 104,853,367 (GRCm39)	M61K	probably damaging	Het
Or5b12b	A	G	19: 12,861,458 (GRCm39)	Y71C	probably damaging	Het
Otog	T	A	7: 45,918,673 (GRCm39)		probably benign	Het
Oxa1l	A	G	14: 54,605,646 (GRCm39)	E375G	possibly damaging	Het
Pan2	T	A	10: 128,144,091 (GRCm39)	I129K	possibly damaging	Het
Parp1	A	G	1: 180,426,616 (GRCm39)	I919M	probably benign	Het
Pnpla7	T	C	2: 24,885,305 (GRCm39)	Y174H	probably damaging	Het
Polr3b	T	C	10: 84,473,928 (GRCm39)	F169S	probably damaging	Het
Rab10	T	C	12: 3,314,743 (GRCm39)	D45G	probably damaging	Het
Reln	A	G	5: 22,185,107 (GRCm39)	S1537P	possibly damaging	Het
Sema6d	T	A	2: 124,507,197 (GRCm39)	S1045T	probably benign	Het
Setd2	T	C	9: 110,402,741 (GRCm39)	V1794A	probably damaging	Het
Spidr	T	A	16: 15,733,229 (GRCm39)	I589F	probably damaging	Het
Stmn4	A	C	14: 66,595,388 (GRCm39)	I165L	probably benign	Het
Stx5a	T	C	19: 8,727,301 (GRCm39)	M177T	probably damaging	Het
Tll1	T	C	8: 64,491,486 (GRCm39)		probably null	Het
Tmem192	T	C	8: 65,416,912 (GRCm39)	Y168H	probably damaging	Het
Ttc21a	C	T	9: 119,785,892 (GRCm39)		probably benign	Het
Ush2a	A	G	1: 188,446,663 (GRCm39)		probably benign	Het
Vezf1	A	G	11: 87,972,403 (GRCm39)	M255V	possibly damaging	Het
Vmn2r25	A	G	6: 123,816,786 (GRCm39)	F265S	probably damaging	Het
Vps13a	A	G	19: 16,681,941 (GRCm39)	S1021P	probably benign	Het
Wfdc16	T	C	2: 164,477,773 (GRCm39)	E92G	possibly damaging	Het
Zkscan2	T	C	7: 123,079,423 (GRCm39)	T845A	possibly damaging	Het

Other mutations in Nelfb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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

Predicted Primers

PCR Primer
(F):5'- TGAATCCTCCATCATGGCTGCAC -3'
(R):5'- GCAAAGCGCATACTGTCCACTTG -3'

Sequencing Primer
(F):5'- ATGGCTGCACCTGCAAAG -3'
(R):5'- GCATACTGTCCACTTGTGAAATTGAG -3'

Posted On

2013-06-12