Mutagenetix > Incidental Mutation

Incidental Mutation 'R4995:Nelfb'

385148

Institutional Source

Beutler Lab

Gene Symbol

Nelfb

Ensembl Gene

ENSMUSG00000013465

Gene Name

negative elongation factor complex member B

Synonyms

A730008L03Rik, Cobra1

MMRRC Submission

042589-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4995 (G1)

Quality Score

180

Status

Validated

Chromosome

Chromosomal Location

25089724-25101501 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 25096208 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 300 (D300E)

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: D300E

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000057731
Gene: ENSMUSG00000013465
AA Change: D300E

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: D89E

SMART Domains

Protein: ENSMUSP00000115698
Gene: ENSMUSG00000013465
AA Change: D89E

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147890

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205741
AA Change: D249E

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146729

Meta Mutation Damage Score

0.0723

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.6%

Validation Efficiency

99% (86/87)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921504E06Rik	G	A	2: 19,498,995 (GRCm39)	Q333*	probably null	Het
4930505A04Rik	C	T	11: 30,376,349 (GRCm39)	V173M	probably damaging	Het
Acvrl1	G	A	15: 101,033,741 (GRCm39)	R141H	probably benign	Het
Adprm	A	G	11: 66,932,436 (GRCm39)	F158L	possibly damaging	Het
Aldoart2	C	T	12: 55,613,038 (GRCm39)	T321M	probably benign	Het
Ap3m2	A	G	8: 23,293,792 (GRCm39)	V86A	probably benign	Het
Arhgef19	T	A	4: 140,974,826 (GRCm39)		probably null	Het
Bcl2l12	T	G	7: 44,643,615 (GRCm39)		probably null	Het
Bptf	T	C	11: 106,945,391 (GRCm39)	Q2501R	probably damaging	Het
C230029F24Rik	A	T	1: 49,377,295 (GRCm39)		noncoding transcript	Het
C7	C	T	15: 5,079,074 (GRCm39)	G78D	probably damaging	Het
Caly	T	C	7: 139,650,538 (GRCm39)	T135A	probably benign	Het
Cbl	A	G	9: 44,065,108 (GRCm39)	M740T	possibly damaging	Het
Cbx4	A	G	11: 118,972,037 (GRCm39)	V446A	probably benign	Het
Celsr1	C	A	15: 85,822,112 (GRCm39)	R1735L	probably damaging	Het
Cep250	A	G	2: 155,830,236 (GRCm39)	D135G	probably damaging	Het
Cgn	T	C	3: 94,687,246 (GRCm39)	T19A	probably damaging	Het
Chic2	A	T	5: 75,204,865 (GRCm39)	V32D	probably damaging	Het
Cntln	A	G	4: 84,968,120 (GRCm39)	K780E	probably benign	Het
Col8a2	A	T	4: 126,204,581 (GRCm39)	D197V	probably damaging	Het
Crot	A	T	5: 9,024,000 (GRCm39)	V372E	probably damaging	Het
Cyb561d2	C	T	9: 107,418,747 (GRCm39)	V26M	probably damaging	Het
Ddx5	G	A	11: 106,676,062 (GRCm39)	T237I	probably damaging	Het
Dmxl2	G	T	9: 54,408,725 (GRCm39)		probably benign	Het
Dock8	T	A	19: 25,135,747 (GRCm39)	S1188R	probably benign	Het
Ehbp1	T	A	11: 22,051,073 (GRCm39)	H493L	probably damaging	Het
Eif5b	T	A	1: 38,090,792 (GRCm39)	*1217K	probably null	Het
Eprs1	A	G	1: 185,142,336 (GRCm39)		probably benign	Het
Etfdh	T	C	3: 79,513,095 (GRCm39)	D376G	probably benign	Het
Fam186a	T	C	15: 99,842,980 (GRCm39)	Q1088R	probably benign	Het
Fbxw16	G	T	9: 109,270,318 (GRCm39)	T141N	probably damaging	Het
Fgf11	G	A	11: 69,689,585 (GRCm39)	H138Y	probably damaging	Het
Htra3	T	C	5: 35,828,418 (GRCm39)	E154G	probably damaging	Het
Hydin	T	A	8: 111,296,274 (GRCm39)	V3601D	probably damaging	Het
Jup	G	T	11: 100,270,367 (GRCm39)	S380*	probably null	Het
Klrg1	T	A	6: 122,255,234 (GRCm39)	D66V	probably benign	Het
Llgl1	C	T	11: 60,600,550 (GRCm39)	A633V	probably benign	Het
Lmln	T	A	16: 32,894,467 (GRCm39)	Y203*	probably null	Het
Lrrc58	T	G	16: 37,697,418 (GRCm39)	C165G	probably benign	Het
Lss	T	C	10: 76,383,371 (GRCm39)	V557A	probably benign	Het
Mast4	T	C	13: 103,042,262 (GRCm39)		probably benign	Het
Med13l	C	A	5: 118,869,014 (GRCm39)	P754Q	possibly damaging	Het
Mga	C	T	2: 119,763,063 (GRCm39)	R1240*	probably null	Het
Mgat5b	T	A	11: 116,865,025 (GRCm39)		probably null	Het
Mtor	A	G	4: 148,610,209 (GRCm39)	D1572G	probably damaging	Het
Muc4	T	A	16: 32,754,214 (GRCm38)	S1363T	probably benign	Het
Muc4	T	A	16: 32,575,332 (GRCm39)	S1306T	probably benign	Het
Myo18b	A	G	5: 112,908,258 (GRCm39)	V2005A	probably damaging	Het
Myo1e	G	A	9: 70,260,554 (GRCm39)	D571N	probably benign	Het
Mypn	T	C	10: 62,955,747 (GRCm39)		probably null	Het
Ndufb10	T	C	17: 24,941,731 (GRCm39)		probably null	Het
Nicol1	G	A	5: 34,142,270 (GRCm39)	R79H	probably damaging	Het
Odad2	G	A	18: 7,223,663 (GRCm39)	T460M	probably damaging	Het
Or2y1d	T	A	11: 49,321,482 (GRCm39)	Y60N	probably damaging	Het
Or4e5	A	T	14: 52,727,988 (GRCm39)	C61*	probably null	Het
Or52n2c	T	A	7: 104,574,942 (GRCm39)	T10S	probably benign	Het
Or52z15	T	A	7: 103,332,574 (GRCm39)	D206E	probably damaging	Het
Pcdha11	C	T	18: 37,144,080 (GRCm39)	T57M	probably benign	Het
Pkp1	A	T	1: 135,808,593 (GRCm39)	I458N	possibly damaging	Het
Prr12	T	A	7: 44,700,653 (GRCm39)		probably benign	Het
Prrc2c	A	T	1: 162,532,879 (GRCm39)		probably benign	Het
Psd4	T	C	2: 24,287,259 (GRCm39)	F397S	probably benign	Het
Pygm	T	C	19: 6,448,169 (GRCm39)	I737T	probably damaging	Het
Rfx1	T	A	8: 84,806,743 (GRCm39)		probably null	Het
Rsl1	A	G	13: 67,330,313 (GRCm39)	T254A	possibly damaging	Het
Sh3rf3	A	G	10: 58,922,646 (GRCm39)	Q574R	probably benign	Het
Spire1	T	C	18: 67,685,849 (GRCm39)		probably null	Het
St6galnac4	G	A	2: 32,484,075 (GRCm39)	G91D	probably damaging	Het
Sytl2	T	C	7: 90,031,465 (GRCm39)		probably benign	Het
Tbpl2	T	A	2: 23,983,872 (GRCm39)	K188N	possibly damaging	Het
Tenm3	A	T	8: 48,682,172 (GRCm39)	M2486K	possibly damaging	Het
Tgoln1	A	C	6: 72,593,123 (GRCm39)	V119G	possibly damaging	Het
Tpgs1	A	T	10: 79,505,325 (GRCm39)	N28Y	probably benign	Het
U2surp	A	C	9: 95,344,847 (GRCm39)		probably benign	Het
Vmn2r103	A	G	17: 19,993,773 (GRCm39)	H50R	probably benign	Het
Vmn2r19	A	G	6: 123,306,869 (GRCm39)	N459S	probably benign	Het
Vmn2r72	T	C	7: 85,387,693 (GRCm39)	S624G	probably damaging	Het
Vps13c	A	G	9: 67,826,603 (GRCm39)	T1415A	probably benign	Het
Vwa5b1	G	A	4: 138,336,154 (GRCm39)	P147S	probably 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
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
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'- CCTGCCACTTCCAGCTATAGAG -3'
(R):5'- CGTTTGTTTGTCATGCCCATAG -3'

Sequencing Primer
(F):5'- CCAGGTGTCTGAAGGACCTGTTC -3'
(R):5'- TCATGCCCATAGGTGGTGC -3'

Posted On

2016-05-10