Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02175:Nelfcd'

List |< first << previous [record 19 of 36] next >> last >|

283061

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nelfcd

Ensembl Gene

ENSMUSG00000016253

Gene Name

negative elongation factor complex member C/D, Th1l

Synonyms

trihydrophobin 1, Th1l, 2410003I03Rik

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.931) question?

Stock #

IGL02175

Quality Score

Status

Chromosome

Chromosomal Location

174415804-174427502 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 174420382 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 89 (T89S)

Ref Sequence

ENSEMBL: ENSMUSP00000016397 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000016397] [ENSMUST00000109075]

Predicted Effect

probably benign
Transcript: ENSMUST00000016397
AA Change: T89S

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000016397
Gene: ENSMUSG00000016253
AA Change: T89S

Domain	Start	End	E-Value	Type
Pfam:TH1	11	604	6.5e-276	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000109075
AA Change: T89S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000104703
Gene: ENSMUSG00000016253
AA Change: T89S

Domain	Start	End	E-Value	Type
Pfam:TH1	10	590	5.6e-303	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129716

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139390

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143683

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The NELF complex of proteins interacts with the DSIF protein complex to repress transcriptional elongation by RNA polymerase II. The protein encoded by this gene is an essential part of the NELF complex. Alternative translation initiation site usage results in the formation of two isoforms with different N-termini. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc12	A	T	8: 86,535,013		probably null	Het
Adgrf5	A	G	17: 43,451,010	I1199V	probably damaging	Het
Atm	T	A	9: 53,480,665	H1808L	probably damaging	Het
Cadps	C	T	14: 12,467,092	V942M	probably damaging	Het
Capns1	T	C	7: 30,190,532	D116G	probably benign	Het
Ccdc110	T	G	8: 45,940,623	M124R	probably benign	Het
Cdh23	T	C	10: 60,331,308	N1855S	possibly damaging	Het
Dstyk	T	A	1: 132,449,391	L245*	probably null	Het
Dync2h1	A	G	9: 7,111,548	Y289H	possibly damaging	Het
Efcab6	G	A	15: 83,896,100	A1044V	probably damaging	Het
Egr1	T	C	18: 34,863,055	S297P	probably benign	Het
Ercc6l2	T	C	13: 63,869,190		probably benign	Het
Frem2	C	T	3: 53,655,599	A496T	possibly damaging	Het
Hook2	T	A	8: 84,991,402	W53R	probably damaging	Het
Med19	T	A	2: 84,678,663		probably null	Het
Mgrn1	A	G	16: 4,920,368	N262S	probably benign	Het
Nbas	T	G	12: 13,566,259		probably null	Het
Ndc80	A	C	17: 71,511,419	M314R	probably benign	Het
Nlrp4a	A	T	7: 26,475,097	E969D	probably damaging	Het
Ntrk3	A	G	7: 78,247,228	V687A	probably damaging	Het
Oc90	A	C	15: 65,883,825	S224R	possibly damaging	Het
Olfr1241	T	C	2: 89,482,282	I284M	possibly damaging	Het
Plxnb1	C	T	9: 109,100,846	H257Y	possibly damaging	Het
Prpf3	A	G	3: 95,834,107	V579A	probably damaging	Het
Rarres1	T	C	3: 67,495,756	N104S	probably benign	Het
Serpina1d	T	C	12: 103,765,696		probably null	Het
Sik2	G	A	9: 50,895,609	Q834*	probably null	Het
Slc39a10	G	A	1: 46,818,128	A696V	probably damaging	Het
Snx13	T	A	12: 35,132,062	N703K	possibly damaging	Het
Spaca9	T	C	2: 28,695,924	I43V	probably benign	Het
Tor1aip2	T	C	1: 156,065,006	S353P	probably damaging	Het
Trmt1l	T	C	1: 151,448,484	S361P	probably benign	Het
Trpm2	T	C	10: 77,937,907	H558R	probably benign	Het
Vmn1r75	T	C	7: 11,880,847	C127R	probably damaging	Het
Zfp879	A	T	11: 50,837,916	Y84N	probably benign	Het

Other mutations in Nelfcd

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01999:Nelfcd	APN	2	174423515	splice site	probably benign
IGL02955:Nelfcd	APN	2	174422598	missense	probably damaging	0.98
IGL03193:Nelfcd	APN	2	174426832	missense	possibly damaging	0.87
IGL03194:Nelfcd	APN	2	174426832	missense	possibly damaging	0.87
IGL03203:Nelfcd	APN	2	174426832	missense	possibly damaging	0.87
IGL03217:Nelfcd	APN	2	174426832	missense	possibly damaging	0.87
IGL03237:Nelfcd	APN	2	174426832	missense	possibly damaging	0.87
IGL03273:Nelfcd	APN	2	174426832	missense	possibly damaging	0.87
IGL03278:Nelfcd	APN	2	174426832	missense	possibly damaging	0.87
IGL03289:Nelfcd	APN	2	174426832	missense	possibly damaging	0.87
IGL03365:Nelfcd	APN	2	174426832	missense	possibly damaging	0.87
IGL03398:Nelfcd	APN	2	174426832	missense	possibly damaging	0.87
IGL03405:Nelfcd	APN	2	174426832	missense	possibly damaging	0.87
IGL03407:Nelfcd	APN	2	174426832	missense	possibly damaging	0.87
R0593:Nelfcd	UTSW	2	174423430	missense	probably benign	0.00
R0751:Nelfcd	UTSW	2	174423014	missense	probably benign	0.03
R1852:Nelfcd	UTSW	2	174423978	splice site	probably null
R2040:Nelfcd	UTSW	2	174420082	missense	probably damaging	1.00
R3606:Nelfcd	UTSW	2	174426544	missense	probably benign	0.10
R3716:Nelfcd	UTSW	2	174423005	missense	possibly damaging	0.51
R4235:Nelfcd	UTSW	2	174427048	missense	probably damaging	1.00
R4607:Nelfcd	UTSW	2	174423162	missense	probably benign	0.01
R4775:Nelfcd	UTSW	2	174426576	missense	probably damaging	0.96
R5104:Nelfcd	UTSW	2	174426366	missense	probably benign	0.10
R5859:Nelfcd	UTSW	2	174427063	makesense	probably null
R6025:Nelfcd	UTSW	2	174426818	missense	probably damaging	1.00
R6104:Nelfcd	UTSW	2	174423457	missense	probably damaging	0.99
R6280:Nelfcd	UTSW	2	174415946	missense	probably benign
R7249:Nelfcd	UTSW	2	174423206	critical splice donor site	probably null
R7382:Nelfcd	UTSW	2	174423383	missense	probably benign	0.00
R7532:Nelfcd	UTSW	2	174426396	missense	probably damaging	1.00
R7545:Nelfcd	UTSW	2	174423978	splice site	probably null
R7766:Nelfcd	UTSW	2	174426832	missense	possibly damaging	0.87
Z1088:Nelfcd	UTSW	2	174426494	frame shift	probably null

Posted On

2015-04-16