Mutagenetix > Incidental Mutation

Incidental Mutation 'R9085:Nelfb'

690499

Institutional Source

Beutler Lab

Gene Symbol

Nelfb

Ensembl Gene

ENSMUSG00000013465

Gene Name

negative elongation factor complex member B

Synonyms

A730008L03Rik, Cobra1

MMRRC Submission

068904-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9085 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

25089724-25101501 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 25094292 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 357 (C357Y)

Ref Sequence

ENSEMBL: ENSMUSP00000057731 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000059849]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000059849
AA Change: C357Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000057731
Gene: ENSMUSG00000013465
AA Change: C357Y

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

SMART Domains

Protein: ENSMUSP00000115698
Gene: ENSMUSG00000013465
AA Change: C146Y

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (72/72)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afg1l	G	A	10: 42,194,637 (GRCm39)	T385M	probably damaging	Het
Arhgap29	T	A	3: 121,808,249 (GRCm39)	D1142E	probably benign	Het
Ash1l	C	T	3: 88,889,294 (GRCm39)	A391V	probably benign	Het
Ash1l	T	C	3: 88,891,529 (GRCm39)	V1136A	probably benign	Het
Cacna1c	G	T	6: 118,615,466 (GRCm39)	Y1308*	probably null	Het
Cacna1g	A	T	11: 94,334,046 (GRCm39)	V865E	probably benign	Het
Cbx2	C	T	11: 118,919,914 (GRCm39)	T493M	possibly damaging	Het
Cyp2a12	T	C	7: 26,735,944 (GRCm39)	F451S	probably damaging	Het
Dlec1	G	T	9: 118,953,252 (GRCm39)	C572F	probably damaging	Het
Dmtn	A	G	14: 70,853,534 (GRCm39)	S92P	probably damaging	Het
Dnah10	T	C	5: 124,839,237 (GRCm39)	L1225P		Het
Dnah2	G	T	11: 69,320,224 (GRCm39)	H3954Q	possibly damaging	Het
Dntt	C	T	19: 41,044,220 (GRCm39)	R462C	probably damaging	Het
Emc1	T	C	4: 139,094,474 (GRCm39)	Y676H	possibly damaging	Het
Epb41l4b	A	T	4: 57,041,064 (GRCm39)		probably null	Het
Fer	T	A	17: 64,228,767 (GRCm39)	M214K	probably damaging	Het
Fgf17	A	G	14: 70,874,436 (GRCm39)	F129L	probably damaging	Het
Foxn3	C	T	12: 99,355,095 (GRCm39)	S23N	probably damaging	Het
Frmd4b	A	C	6: 97,269,334 (GRCm39)	S993A	probably benign	Het
Gdap1l1	T	C	2: 163,280,508 (GRCm39)	W15R	probably damaging	Het
Golga5	T	A	12: 102,458,476 (GRCm39)	S640T	probably benign	Het
Gucy2g	A	T	19: 55,221,597 (GRCm39)	Y301*	probably null	Het
Il31ra	T	C	13: 112,660,628 (GRCm39)	S654G		Het
Lmnb2	T	C	10: 80,740,091 (GRCm39)	D442G	probably benign	Het
Lpin1	T	C	12: 16,623,715 (GRCm39)	Y223C		Het
Lrrc37	A	G	11: 103,507,565 (GRCm39)	Y1468H	unknown	Het
Mast3	A	T	8: 71,249,361 (GRCm39)	W53R	unknown	Het
Mettl2	T	C	11: 105,021,274 (GRCm39)	V180A	possibly damaging	Het
Mospd3	C	T	5: 137,598,870 (GRCm39)		probably benign	Het
Mrpl18	A	T	17: 13,134,582 (GRCm39)	V61E	probably damaging	Het
Mrtfb	A	C	16: 13,230,092 (GRCm39)	T926P	probably damaging	Het
Muc2	T	A	7: 141,287,058 (GRCm39)	C154S	probably damaging	Het
Mypn	T	G	10: 62,983,894 (GRCm39)		probably null	Het
Nes	T	G	3: 87,887,069 (GRCm39)	V1776G	possibly damaging	Het
Nin	T	A	12: 70,076,786 (GRCm39)	R1797*	probably null	Het
Nxpe2	A	T	9: 48,250,872 (GRCm39)	I25K	probably benign	Het
Or4a39	A	G	2: 89,236,641 (GRCm39)	S261P	probably damaging	Het
Or5ak24	T	A	2: 85,260,619 (GRCm39)	T185S	probably benign	Het
Osbpl1a	T	C	18: 13,062,093 (GRCm39)	H60R	probably damaging	Het
Papss1	C	A	3: 131,324,817 (GRCm39)	H425N	probably damaging	Het
Pde4dip	T	C	3: 97,601,385 (GRCm39)	N2344S	probably benign	Het
Pde6c	G	A	19: 38,166,569 (GRCm39)	V704I	probably benign	Het
Pknox1	C	T	17: 31,822,229 (GRCm39)	T332M	possibly damaging	Het
Pla2r1	A	T	2: 60,255,791 (GRCm39)	V1251D	probably damaging	Het
Plch2	T	C	4: 155,084,976 (GRCm39)	D321G	probably damaging	Het
Plec	A	G	15: 76,057,275 (GRCm39)	S4221P	probably damaging	Het
Psg23	T	G	7: 18,348,660 (GRCm39)	N49T	possibly damaging	Het
Qrfpr	A	G	3: 36,276,099 (GRCm39)	F97S	probably damaging	Het
Rab3ip	G	A	10: 116,775,310 (GRCm39)	S16L	probably damaging	Het
Rbm43	A	G	2: 51,824,930 (GRCm39)		probably benign	Het
Rpgrip1l	T	C	8: 92,014,303 (GRCm39)	N314D	possibly damaging	Het
Rpn2	C	T	2: 157,125,567 (GRCm39)	T26I	possibly damaging	Het
Rsph6a	A	T	7: 18,799,250 (GRCm39)	N294Y	probably damaging	Het
Serpinb9h	T	C	13: 33,581,781 (GRCm39)	Y113H	probably damaging	Het
Sesn1	C	T	10: 41,686,835 (GRCm39)		probably benign	Het
Sh3d19	T	C	3: 86,033,992 (GRCm39)	Y782H	probably damaging	Het
Sh3rf1	C	A	8: 61,802,493 (GRCm39)	D275E	probably benign	Het
Siglecg	T	C	7: 43,061,049 (GRCm39)	V374A	probably benign	Het
Slc6a11	A	T	6: 114,202,808 (GRCm39)	I301F	probably damaging	Het
Spock1	A	T	13: 57,570,956 (GRCm39)	F348I	unknown	Het
Sptlc2	T	C	12: 87,382,839 (GRCm39)	K422E	probably benign	Het
Tas2r115	A	T	6: 132,714,327 (GRCm39)	V208E	probably benign	Het
Tmem132a	G	T	19: 10,843,835 (GRCm39)	Q174K	probably damaging	Het
Tmtc1	A	T	6: 148,237,749 (GRCm39)	Y338*	probably null	Het
Tnfaip1	G	T	11: 78,420,965 (GRCm39)	L32I	probably damaging	Het
Tox2	T	C	2: 163,067,481 (GRCm39)	C67R	probably benign	Het
Ube2o	C	T	11: 116,436,209 (GRCm39)	G311S	probably damaging	Het
Unc13d	AATGCCTCCCATGCC	AATGCCTCCCATGCCTCCCATGCC	11: 115,958,998 (GRCm39)		probably benign	Het
Vav3	C	T	3: 109,413,722 (GRCm39)	A220V	probably benign	Het
Xaf1	A	G	11: 72,197,419 (GRCm39)	K132E	probably benign	Het
Zeb1	T	C	18: 5,766,716 (GRCm39)	L409S	probably damaging	Het
Zfp51	T	A	17: 21,684,660 (GRCm39)	L425H	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
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
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'- TGTGCCAGTACCCACCTATG -3'
(R):5'- AGCAGTATGAATTTAGTATGCTGGG -3'

Sequencing Primer
(F):5'- GTGGACAGTATGCGCTTT -3'
(R):5'- TCAGTACAGAGAGAGGCTG -3'

Posted On

2021-12-30