Mutagenetix > Incidental Mutation

Incidental Mutation 'R5663:Nelfb'

444178

Institutional Source

Beutler Lab

Gene Symbol

Nelfb

Ensembl Gene

ENSMUSG00000013465

Gene Name

negative elongation factor complex member B

Synonyms

A730008L03Rik, Cobra1

MMRRC Submission

043306-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5663 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

25089724-25101501 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 25093501 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 417 (E417V)

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: E417V

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

SMART Domains

Protein: ENSMUSP00000057731
Gene: ENSMUSG00000013465
AA Change: E417V

Domain	Start	End	E-Value	Type
Pfam:COBRA1	107	578	3.5e-248	PFAM

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

probably benign
Transcript: ENSMUST00000140934

SMART Domains

Protein: ENSMUSP00000115698
Gene: ENSMUSG00000013465

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146729

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205741
AA Change: E366V

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147890

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.6%

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgra3	T	C	5: 50,156,627 (GRCm39)	N368D	probably benign	Het
Agfg1	T	A	1: 82,871,173 (GRCm39)	S444R	probably damaging	Het
Arhgap44	A	T	11: 64,915,117 (GRCm39)	F384I	probably damaging	Het
Atp8b2	T	C	3: 89,849,101 (GRCm39)	N1078D	probably benign	Het
Bcan	G	A	3: 87,902,920 (GRCm39)	T286I	probably damaging	Het
Cacna1d	A	G	14: 29,845,297 (GRCm39)	L624P	probably damaging	Het
Ccn5	G	A	2: 163,667,173 (GRCm39)	R58Q	probably damaging	Het
Cimip1	C	T	2: 173,369,690 (GRCm39)	P68L	probably damaging	Het
Dnah7c	C	A	1: 46,574,308 (GRCm39)	F994L	probably damaging	Het
Dpp6	A	G	5: 27,254,620 (GRCm39)	I12V	possibly damaging	Het
Edil3	A	G	13: 89,190,627 (GRCm39)	I101M	probably damaging	Het
Elapor1	T	C	3: 108,399,399 (GRCm39)	T64A	probably benign	Het
Farp2	T	C	1: 93,497,735 (GRCm39)	V255A	probably damaging	Het
Fhip1a	T	C	3: 85,579,740 (GRCm39)	T822A	probably benign	Het
Fzr1	A	G	10: 81,206,360 (GRCm39)	S137P	probably benign	Het
H2-Eb2	T	C	17: 34,552,382 (GRCm39)	F76L	possibly damaging	Het
Helb	A	G	10: 119,941,698 (GRCm39)	I330T	possibly damaging	Het
Il18rap	T	A	1: 40,570,717 (GRCm39)	C220S	probably damaging	Het
Kdm4c	T	C	4: 74,317,585 (GRCm39)	V966A	probably damaging	Het
Kdm5b	T	C	1: 134,558,373 (GRCm39)	V1460A	probably benign	Het
Kif15	T	A	9: 122,820,916 (GRCm39)		probably null	Het
Liat1	A	G	11: 75,891,047 (GRCm39)	K54E	probably damaging	Het
Lrrc37	A	G	11: 103,503,949 (GRCm39)	V497A	probably benign	Het
Masp1	T	C	16: 23,271,688 (GRCm39)	E621G	possibly damaging	Het
Mier1	T	A	4: 103,007,739 (GRCm39)	S285T	probably damaging	Het
Mroh6	A	G	15: 75,760,437 (GRCm39)	S46P	probably benign	Het
Myo1h	A	T	5: 114,472,155 (GRCm39)	Q395L	probably damaging	Het
Ndufb5	T	C	3: 32,801,898 (GRCm39)	I86T	possibly damaging	Het
Nfkb1	T	G	3: 135,309,612 (GRCm39)	D494A	possibly damaging	Het
Nid1	G	A	13: 13,647,419 (GRCm39)	C395Y	probably damaging	Het
Nr4a3	G	T	4: 48,055,931 (GRCm39)	R319I	probably damaging	Het
Or2ag13	T	A	7: 106,472,877 (GRCm39)	T192S	probably benign	Het
Or4e1	A	T	14: 52,701,052 (GRCm39)	I138K	probably benign	Het
Or6f2	G	A	7: 139,756,234 (GRCm39)	C67Y	probably damaging	Het
Paqr5	A	G	9: 61,876,144 (GRCm39)	V130A	probably benign	Het
Phlpp2	G	A	8: 110,630,976 (GRCm39)	V207I	probably benign	Het
Pik3ca	C	T	3: 32,516,928 (GRCm39)	T1052M	probably damaging	Het
Pikfyve	T	C	1: 65,255,187 (GRCm39)	Y347H	probably benign	Het
Ptprz1	A	G	6: 23,035,142 (GRCm39)	H1964R	probably damaging	Het
Rassf7	C	T	7: 140,797,003 (GRCm39)	T72I	probably damaging	Het
Rfx3	A	G	19: 27,771,017 (GRCm39)	F603S	probably damaging	Het
Slc27a4	T	A	2: 29,702,382 (GRCm39)	V477D	probably damaging	Het
Slc9a3	A	C	13: 74,311,831 (GRCm39)	D593A	probably damaging	Het
Smyd1	A	G	6: 71,216,705 (GRCm39)	I14T	probably benign	Het
Sox6	T	A	7: 115,149,289 (GRCm39)	I404L	probably benign	Het
Tas2r121	G	A	6: 132,677,520 (GRCm39)	H151Y	probably benign	Het
Tgfb1	C	T	7: 25,393,706 (GRCm39)	T192M	possibly damaging	Het
Ubr4	T	C	4: 139,155,894 (GRCm39)	Y2240H	possibly damaging	Het
Whrn	T	A	4: 63,336,685 (GRCm39)	N626Y	probably damaging	Het
Xrra1	T	A	7: 99,535,250 (GRCm39)	I185N	probably damaging	Het
Zfp94	G	A	7: 24,002,252 (GRCm39)	R397W	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
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
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'- AGCCATGGTCTTCAGTCAGC -3'
(R):5'- CTCAACATGAGTCTCAGGAAACAG -3'

Sequencing Primer
(F):5'- GCAGCGCCACTCTCATG -3'
(R):5'- CATGAGTCTCAGGAAACAGGGAGG -3'

Posted On

2016-11-09