Mutagenetix > Incidental Mutation

Incidental Mutation 'R0007:Nelfe'

212468

Institutional Source

Beutler Lab

Gene Symbol

Nelfe

Ensembl Gene

ENSMUSG00000024369

Gene Name

negative elongation factor complex member E, Rdbp

Synonyms

NELF-E, Rdbp

MMRRC Submission

038302-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0007 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

35069367-35075348 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to G at 35072962 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025229] [ENSMUST00000046022] [ENSMUST00000097343] [ENSMUST00000128767] [ENSMUST00000173357] [ENSMUST00000173065] [ENSMUST00000165953] [ENSMUST00000153400] [ENSMUST00000176203] [ENSMUST00000172966] [ENSMUST00000154526] [ENSMUST00000146299]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000025229

SMART Domains

Protein: ENSMUSP00000025229
Gene: ENSMUSG00000090231

Domain	Start	End	E-Value	Type
low complexity region	8	23	N/A	INTRINSIC
CCP	36	88	5.15e-1	SMART
CCP	102	157	4.62e-15	SMART
CCP	164	217	2.06e-12	SMART
VWA	267	472	1.07e-40	SMART
Tryp_SPc	480	751	2.53e-30	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000046022

SMART Domains

Protein: ENSMUSP00000036265
Gene: ENSMUSG00000040356

Domain	Start	End	E-Value	Type
low complexity region	7	22	N/A	INTRINSIC
low complexity region	171	176	N/A	INTRINSIC
low complexity region	208	237	N/A	INTRINSIC
low complexity region	269	279	N/A	INTRINSIC
DEXDc	304	487	3.61e-28	SMART
low complexity region	583	592	N/A	INTRINSIC
HELICc	619	705	8.63e-17	SMART
Pfam:rRNA_proc-arch	760	1044	9.7e-39	PFAM
DSHCT	1067	1243	7.67e-77	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000097343
AA Change: S195G

SMART Domains

Protein: ENSMUSP00000094956
Gene: ENSMUSG00000024369
AA Change: S195G

Domain	Start	End	E-Value	Type
coiled coil region	7	36	N/A	INTRINSIC
low complexity region	147	167	N/A	INTRINSIC
low complexity region	184	239	N/A	INTRINSIC
RRM	259	324	7.25e-12	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000128767

SMART Domains

Protein: ENSMUSP00000119977
Gene: ENSMUSG00000090231

Domain	Start	End	E-Value	Type
low complexity region	6	21	N/A	INTRINSIC
CCP	34	86	5.15e-1	SMART
CCP	100	155	4.62e-15	SMART
CCP	162	215	2.06e-12	SMART
VWA	265	470	1.07e-40	SMART
Tryp_SPc	478	749	2.53e-30	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000129891

SMART Domains

Protein: ENSMUSP00000120864
Gene: ENSMUSG00000092511

Domain	Start	End	E-Value	Type
Blast:VWA	2	77	8e-7	BLAST
Tryp_SPc	85	365	5.69e-8	SMART
CCP	310	365	4.62e-15	SMART
CCP	372	425	2.06e-12	SMART
VWA	475	680	1.07e-40	SMART
Tryp_SPc	688	959	2.53e-30	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000133127

SMART Domains

Protein: ENSMUSP00000118360
Gene: ENSMUSG00000090231

Domain	Start	End	E-Value	Type
PDB:2WIN\|L	2	43	2e-20	PDB
Blast:VWA	13	44	9e-11	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000141295

SMART Domains

Protein: ENSMUSP00000118945
Gene: ENSMUSG00000090231

Domain	Start	End	E-Value	Type
Tryp_SPc	18	258	3.76e-7	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000173357
AA Change: S195G

SMART Domains

Protein: ENSMUSP00000134272
Gene: ENSMUSG00000024369
AA Change: S195G

Domain	Start	End	E-Value	Type
coiled coil region	7	36	N/A	INTRINSIC
low complexity region	147	167	N/A	INTRINSIC
low complexity region	184	239	N/A	INTRINSIC
RRM	259	324	7.25e-12	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000173065
AA Change: S195G

SMART Domains

Protein: ENSMUSP00000133934
Gene: ENSMUSG00000024369
AA Change: S195G

Domain	Start	End	E-Value	Type
coiled coil region	7	36	N/A	INTRINSIC
low complexity region	147	167	N/A	INTRINSIC
low complexity region	184	228	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000165953
AA Change: S195G

SMART Domains

Protein: ENSMUSP00000131195
Gene: ENSMUSG00000024369
AA Change: S195G

Domain	Start	End	E-Value	Type
coiled coil region	7	36	N/A	INTRINSIC
low complexity region	147	167	N/A	INTRINSIC
low complexity region	184	239	N/A	INTRINSIC
RRM	259	324	7.25e-12	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173775

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174226

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174888

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174075

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174363

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174887

Predicted Effect

probably benign
Transcript: ENSMUST00000153400

SMART Domains

Protein: ENSMUSP00000116497
Gene: ENSMUSG00000090231

Domain	Start	End	E-Value	Type
Tryp_SPc	1	217	2.36e-5	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000176203

SMART Domains

Protein: ENSMUSP00000135660
Gene: ENSMUSG00000090231

Domain	Start	End	E-Value	Type
low complexity region	8	23	N/A	INTRINSIC
CCP	36	88	5.15e-1	SMART
CCP	102	157	4.62e-15	SMART
CCP	164	217	2.06e-12	SMART
VWA	267	472	1.07e-40	SMART
Tryp_SPc	480	713	5.03e-5	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000172966

Predicted Effect

probably benign
Transcript: ENSMUST00000154526

SMART Domains

Protein: ENSMUSP00000120990
Gene: ENSMUSG00000090231

Domain	Start	End	E-Value	Type
low complexity region	6	21	N/A	INTRINSIC
CCP	34	86	5.15e-1	SMART
CCP	100	155	4.62e-15	SMART
CCP	162	215	2.06e-12	SMART
VWA	265	470	1.07e-40	SMART
Tryp_SPc	478	711	5.03e-5	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000146299

SMART Domains

Protein: ENSMUSP00000117677
Gene: ENSMUSG00000092511

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
low complexity region	72	83	N/A	INTRINSIC
CCP	94	148	1.89e-11	SMART
VWA	103	311	1.74e-1	SMART
Tryp_SPc	315	547	1.49e-7	SMART
CCP	549	601	5.15e-1	SMART
CCP	615	670	4.62e-15	SMART
CCP	677	730	2.06e-12	SMART
VWA	780	985	1.07e-40	SMART
Tryp_SPc	993	1264	2.53e-30	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184774

Predicted Effect

probably benign
Transcript: ENSMUST00000176332

Meta Mutation Damage Score

0.0589

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.9%
20x: 96.5%

Validation Efficiency

100% (38/38)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is part of a complex termed negative elongation factor (NELF) which represses RNA polymerase II transcript elongation. This protein bears similarity to nuclear RNA-binding proteins; however, it has not been demonstrated that this protein binds RNA. The protein contains a tract of alternating basic and acidic residues, largely arginine (R) and aspartic acid (D). The gene localizes to the major histocompatibility complex (MHC) class III region on chromosome 6. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcf1	A	T	17: 36,270,562 (GRCm39)	Y543N	probably damaging	Het
Adgrb3	C	A	1: 25,150,772 (GRCm39)		probably null	Het
AI504432	T	A	3: 106,956,152 (GRCm39)		noncoding transcript	Het
Cd82	T	C	2: 93,264,226 (GRCm39)	N39S	probably benign	Het
Cntnap2	A	C	6: 45,969,007 (GRCm39)	N250H	possibly damaging	Het
Col7a1	T	C	9: 108,790,471 (GRCm39)	V973A	unknown	Het
Cyp2c66	T	A	19: 39,159,402 (GRCm39)	C284*	probably null	Het
Denr	T	A	5: 124,062,877 (GRCm39)	Y127N	probably damaging	Het
Diaph3	C	A	14: 87,104,056 (GRCm39)	R776L	possibly damaging	Het
Gm5600	T	A	7: 113,307,010 (GRCm39)		noncoding transcript	Het
Hephl1	A	T	9: 14,997,471 (GRCm39)	D398E	possibly damaging	Het
Lama3	T	A	18: 12,630,938 (GRCm39)		probably benign	Het
Mtrr	A	T	13: 68,723,449 (GRCm39)	F154L	probably benign	Het
Myo1b	T	A	1: 51,815,413 (GRCm39)	R650S	probably damaging	Het
Nek10	T	A	14: 14,840,574 (GRCm38)	H153Q	probably benign	Het
Nlrp9a	T	C	7: 26,250,515 (GRCm39)		probably benign	Het
Nos1	T	C	5: 118,048,153 (GRCm39)	S653P	probably damaging	Het
Or5p76	A	G	7: 108,122,420 (GRCm39)	S246P	probably damaging	Het
Or8b101	A	T	9: 38,020,390 (GRCm39)	Y131F	possibly damaging	Het
Pcsk5	C	A	19: 17,632,225 (GRCm39)	G314C	probably damaging	Het
Ralgps1	A	G	2: 33,033,401 (GRCm39)	S393P	probably damaging	Het
Slc44a4	G	A	17: 35,140,230 (GRCm39)	A60T	probably damaging	Het
Slc4a4	G	A	5: 89,186,437 (GRCm39)	D173N	probably damaging	Het
Sparcl1	T	A	5: 104,234,946 (GRCm39)	Q523L	probably damaging	Het
Srgap3	A	G	6: 112,806,473 (GRCm39)	Y63H	probably damaging	Het
Trim16	A	G	11: 62,719,944 (GRCm39)	M84V	probably benign	Het
Trpm3	G	A	19: 22,964,893 (GRCm39)	A1453T	probably benign	Het
Ttn	C	T	2: 76,710,548 (GRCm39)		probably benign	Het

Other mutations in Nelfe

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00543:Nelfe	APN	17	35,072,592 (GRCm39)	missense	possibly damaging	0.81
IGL02227:Nelfe	APN	17	35,073,330 (GRCm39)	missense	probably benign	0.09
FR4342:Nelfe	UTSW	17	35,073,065 (GRCm39)	unclassified	probably benign
FR4548:Nelfe	UTSW	17	35,073,046 (GRCm39)	unclassified	probably benign
R0563:Nelfe	UTSW	17	35,073,215 (GRCm39)	missense	possibly damaging	0.55
R2213:Nelfe	UTSW	17	35,072,859 (GRCm39)	missense	probably benign	0.03
R3802:Nelfe	UTSW	17	35,072,877 (GRCm39)	missense	possibly damaging	0.93
R5892:Nelfe	UTSW	17	35,073,645 (GRCm39)	unclassified	probably benign
R6318:Nelfe	UTSW	17	35,073,432 (GRCm39)	missense	probably damaging	1.00
R6625:Nelfe	UTSW	17	35,073,334 (GRCm39)	missense	probably benign	0.44
R6977:Nelfe	UTSW	17	35,073,688 (GRCm39)	missense	probably damaging	1.00
R7106:Nelfe	UTSW	17	35,071,395 (GRCm39)	splice site	probably null
R7205:Nelfe	UTSW	17	35,069,912 (GRCm39)	splice site	probably null
R8505:Nelfe	UTSW	17	35,073,779 (GRCm39)	splice site	probably null
R9008:Nelfe	UTSW	17	35,073,334 (GRCm39)	missense	possibly damaging	0.90
RF055:Nelfe	UTSW	17	35,073,038 (GRCm39)	unclassified	probably benign
RF056:Nelfe	UTSW	17	35,073,047 (GRCm39)	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- TCCACAAGGTTTGGAAGAAGGTCG -3'
(R):5'- GCTAAGATCACTCACTGCGGAAAGG -3'

Sequencing Primer
(F):5'- AGAAGGTCGAACCCCCTTTG -3'
(R):5'- CTGTCTCGATCTCGATCTCG -3'

Posted On

2014-07-03