Mutagenetix > Incidental Mutation

Incidental Mutation 'R6747:Nelfb'

530564

Institutional Source

Beutler Lab

Gene Symbol

Nelfb

Ensembl Gene

ENSMUSG00000013465

Gene Name

negative elongation factor complex member B

Synonyms

A730008L03Rik, Cobra1

MMRRC Submission

044864-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6747 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

25199712-25211489 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 25203381 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 453 (T453I)

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: T453I

PolyPhen 2 Score 0.087 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000057731
Gene: ENSMUSG00000013465
AA Change: T453I

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

Predicted Effect

unknown
Transcript: ENSMUST00000124900
AA Change: T22I

SMART Domains

Protein: ENSMUSP00000115296
Gene: ENSMUSG00000013465
AA Change: T22I

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: ENSMUST00000147890

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 96.0%

Validation Efficiency

97% (68/70)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	C	T	3: 122,126,313 (GRCm38)		probably null	Het
Acyp1	C	T	12: 85,278,905 (GRCm38)	V107I	probably null	Het
Aftph	T	C	11: 20,726,144 (GRCm38)		probably null	Het
Agtpbp1	A	T	13: 59,544,353 (GRCm38)		probably null	Het
Arhgap15	C	A	2: 44,116,677 (GRCm38)	P269T	probably damaging	Het
Arhgap30	T	C	1: 171,407,729 (GRCm38)	V557A	probably damaging	Het
Asb3	T	A	11: 31,081,493 (GRCm38)	M410K	probably benign	Het
B4galnt2	T	C	11: 95,868,634 (GRCm38)		probably null	Het
Birc3	A	G	9: 7,860,261 (GRCm38)		probably null	Het
Cav2	A	T	6: 17,286,951 (GRCm38)	N69Y	probably damaging	Het
Cc2d2b	G	A	19: 40,795,667 (GRCm38)	C826Y	probably benign	Het
Cenpf	T	A	1: 189,652,854 (GRCm38)	T2410S	probably benign	Het
Chchd1	A	G	14: 20,703,380 (GRCm38)	D24G	probably benign	Het
Cmip	G	A	8: 117,436,879 (GRCm38)	G450S	probably benign	Het
Col11a1	C	T	3: 114,212,450 (GRCm38)	Q534*	probably null	Het
Col3a1	G	T	1: 45,338,622 (GRCm38)		probably benign	Het
Cox4i1	T	C	8: 120,673,230 (GRCm38)	I31T	possibly damaging	Het
Cstf3	G	T	2: 104,646,767 (GRCm38)	V168F	probably damaging	Het
Dapk1	T	C	13: 60,725,340 (GRCm38)	I352T	probably benign	Het
Ddx52	T	C	11: 83,955,302 (GRCm38)	V456A	probably damaging	Het
Dmxl2	A	T	9: 54,416,088 (GRCm38)	H1337Q	probably damaging	Het
Dnah7a	T	C	1: 53,636,062 (GRCm38)	T369A	probably benign	Het
Dppa1	T	A	11: 46,625,595 (GRCm38)	I8F	unknown	Het
Ebf1	G	T	11: 44,883,814 (GRCm38)	V213F	probably damaging	Het
Foxb2	C	A	19: 16,872,833 (GRCm38)	E270*	probably null	Het
Gclc	A	T	9: 77,788,245 (GRCm38)	R450W	probably damaging	Het
Gm13128	T	C	4: 144,332,978 (GRCm38)	W420R	probably benign	Het
Grin2d	T	C	7: 45,862,268 (GRCm38)	E251G	probably damaging	Het
Hal	A	T	10: 93,500,677 (GRCm38)	N423Y	probably damaging	Het
Krtap4-8	T	A	11: 99,780,091 (GRCm38)	I185F	unknown	Het
Lrp3	T	A	7: 35,211,437 (GRCm38)	Q61L	probably benign	Het
Met	A	C	6: 17,571,467 (GRCm38)	Q1296H	probably damaging	Het
Mphosph9	T	A	5: 124,297,699 (GRCm38)	N557I	possibly damaging	Het
Mrpl46	C	A	7: 78,782,981 (GRCm38)	W16C	probably benign	Het
Myh13	G	A	11: 67,350,419 (GRCm38)	R874Q	probably damaging	Het
Nos2	A	G	11: 78,952,954 (GRCm38)	D909G	probably damaging	Het
Nr5a2	T	C	1: 136,882,344 (GRCm38)	E431G	possibly damaging	Het
Nsmce2	A	G	15: 59,591,724 (GRCm38)	D149G	probably benign	Het
Olfr203	T	C	16: 59,303,641 (GRCm38)	F164L	probably benign	Het
Olfr690	C	T	7: 105,330,027 (GRCm38)	R55H	probably benign	Het
Pcbp4	C	A	9: 106,460,648 (GRCm38)		probably null	Het
Peg10	A	G	6: 4,757,137 (GRCm38)		probably benign	Het
Pms2	C	T	5: 143,925,419 (GRCm38)	P154L	probably benign	Het
Pou6f2	A	C	13: 18,129,187 (GRCm38)	L112R	probably benign	Het
Prdm6	A	T	18: 53,465,046 (GRCm38)		probably benign	Het
Prob1	G	A	18: 35,655,154 (GRCm38)	R12W	probably damaging	Het
Rif1	T	A	2: 52,078,263 (GRCm38)		probably null	Het
Rpl9-ps6	A	G	19: 32,466,143 (GRCm38)	S137P	probably benign	Het
Rsf1	GGCG	GGCGACGGCAGCG	7: 97,579,906 (GRCm38)		probably benign	Homo
Sec23ip	A	G	7: 128,752,849 (GRCm38)		silent	Het
Slc38a9	T	C	13: 112,690,180 (GRCm38)	C151R	probably benign	Het
Slc39a8	T	C	3: 135,849,180 (GRCm38)		probably null	Het
Slc6a18	C	A	13: 73,677,991 (GRCm38)		probably benign	Het
Snw1	T	C	12: 87,464,710 (GRCm38)	D57G	probably damaging	Het
Sox6	C	G	7: 115,541,731 (GRCm38)	R505P	probably damaging	Het
Speg	T	C	1: 75,410,395 (GRCm38)		probably null	Het
Spire2	C	T	8: 123,356,846 (GRCm38)	R190C	probably damaging	Het
Stard9	A	C	2: 120,698,383 (GRCm38)	H1707P	possibly damaging	Het
Tenm3	G	T	8: 48,343,243 (GRCm38)	T237K	probably damaging	Het
Themis2	T	A	4: 132,796,262 (GRCm38)	E31V	possibly damaging	Het
Trim56	T	G	5: 137,114,521 (GRCm38)	Q47P	probably damaging	Het
Trim58	T	C	11: 58,651,264 (GRCm38)	I350T	probably benign	Het
Ttll7	C	T	3: 146,944,056 (GRCm38)	P639S	probably benign	Het
Ubxn6	A	G	17: 56,070,650 (GRCm38)		probably null	Het
Vmn2r114	A	T	17: 23,309,876 (GRCm38)	F417L	probably benign	Het
Vmn2r29	T	A	7: 7,231,422 (GRCm38)	M822L	probably benign	Het
Vps9d1	T	C	8: 123,254,007 (GRCm38)	D27G	probably damaging	Het
Wdr3	C	T	3: 100,138,724 (GRCm38)	R931Q	probably damaging	Het
Whamm	G	A	7: 81,578,302 (GRCm38)		probably null	Het
Zcchc24	T	C	14: 25,757,033 (GRCm38)	H142R	probably damaging	Het
Zfp292	T	C	4: 34,806,894 (GRCm38)	K2050R	probably damaging	Het

Other mutations in Nelfb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00547:Nelfb	APN	2	25,204,288 (GRCm38)	missense	possibly damaging	0.94
IGL01573:Nelfb	APN	2	25,203,957 (GRCm38)	missense	probably damaging	1.00
IGL03109:Nelfb	APN	2	25,201,061 (GRCm38)	missense	possibly damaging	0.95
IGL03255:Nelfb	APN	2	25,203,195 (GRCm38)	missense	probably benign	0.21
R0541:Nelfb	UTSW	2	25,203,980 (GRCm38)	missense	probably benign	0.01
R2046:Nelfb	UTSW	2	25,206,311 (GRCm38)	missense	probably damaging	0.97
R4832:Nelfb	UTSW	2	25,209,969 (GRCm38)	missense	probably damaging	1.00
R4995:Nelfb	UTSW	2	25,206,196 (GRCm38)	missense	probably benign	0.01
R5299:Nelfb	UTSW	2	25,210,745 (GRCm38)	missense	probably benign	0.20
R5663:Nelfb	UTSW	2	25,203,489 (GRCm38)	missense	probably benign	0.01
R5854:Nelfb	UTSW	2	25,209,993 (GRCm38)	missense	probably damaging	1.00
R5987:Nelfb	UTSW	2	25,203,888 (GRCm38)	missense	probably damaging	1.00
R7025:Nelfb	UTSW	2	25,210,493 (GRCm38)	missense	probably damaging	1.00
R8118:Nelfb	UTSW	2	25,205,159 (GRCm38)	missense	possibly damaging	0.95
R8966:Nelfb	UTSW	2	25,200,739 (GRCm38)	missense	probably damaging	1.00
R9001:Nelfb	UTSW	2	25,206,275 (GRCm38)	missense	probably damaging	1.00
R9085:Nelfb	UTSW	2	25,204,280 (GRCm38)	missense	probably damaging	1.00
R9373:Nelfb	UTSW	2	25,205,206 (GRCm38)	missense	probably damaging	0.99
R9786:Nelfb	UTSW	2	25,205,133 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCAGTACTCACCAAGTCCAGG -3'
(R):5'- GTCTATTGAGAGCAGCCAGG -3'

Sequencing Primer
(F):5'- GCGCAGGAGAGCATTCTTG -3'
(R):5'- AGCAGCCAGGCTCAGGG -3'

Posted On

2018-08-01