Mutagenetix > Incidental Mutation

Incidental Mutation 'R4775:Nelfcd'

367826

Institutional Source

Beutler Lab

Gene Symbol

Nelfcd

Ensembl Gene

ENSMUSG00000016253

Gene Name

negative elongation factor complex member C/D, Th1l

Synonyms

Th1l, 2410003I03Rik, trihydrophobin 1

MMRRC Submission

041991-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.949) question?

Stock #

R4775 (G1)

Quality Score

129

Status

Not validated

Chromosome

Chromosomal Location

174257623-174269298 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 174268369 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Glycine at position 520 (C520G)

Ref Sequence

ENSEMBL: ENSMUSP00000104703 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000016397] [ENSMUST00000016400] [ENSMUST00000109075]

AlphaFold

Q922L6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000016397
AA Change: C536G

PolyPhen 2 Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000016397
Gene: ENSMUSG00000016253
AA Change: C536G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000016400

SMART Domains

Protein: ENSMUSP00000016400
Gene: ENSMUSG00000016256

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
Pept_C1	64	301	5.46e-51	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000109075
AA Change: C520G

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000104703
Gene: ENSMUSG00000016253
AA Change: C520G

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: ENSMUST00000137986

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139390

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143683

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.4%

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	A	G	11: 84,134,165 (GRCm39)	Y426C	probably damaging	Het
Adam7	A	G	14: 68,745,361 (GRCm39)	I621T	probably benign	Het
Adamts1	A	T	16: 85,597,278 (GRCm39)	Y260*	probably null	Het
Adgrf1	C	T	17: 43,622,054 (GRCm39)	L764F	probably damaging	Het
Afg3l2	G	T	18: 67,554,329 (GRCm39)	L458M	probably damaging	Het
Atp9b	A	G	18: 80,808,984 (GRCm39)		probably null	Het
C5ar2	A	C	7: 15,971,540 (GRCm39)	L129R	probably damaging	Het
Ccdc174	G	A	6: 91,867,875 (GRCm39)		probably null	Het
Cidec	T	C	6: 113,411,695 (GRCm39)	M1V	probably null	Het
Clec16a	G	T	16: 10,456,778 (GRCm39)	R663L	probably damaging	Het
Col25a1	T	C	3: 129,976,468 (GRCm39)	C118R	possibly damaging	Het
Cox6b2	A	G	7: 4,755,074 (GRCm39)	C67R	probably damaging	Het
Cspg4b	A	T	13: 113,454,229 (GRCm39)	I92F	possibly damaging	Het
Cwf19l2	A	G	9: 3,430,973 (GRCm39)	Y435C	probably benign	Het
Dapk1	T	A	13: 60,897,156 (GRCm39)	S792T	probably benign	Het
Dis3l	T	A	9: 64,238,190 (GRCm39)	N101Y	probably benign	Het
Dsg4	A	G	18: 20,604,184 (GRCm39)	T884A	possibly damaging	Het
Dvl1	T	C	4: 155,942,584 (GRCm39)	W617R	probably benign	Het
Eml5	A	G	12: 98,768,566 (GRCm39)	V1503A	probably benign	Het
Engase	A	T	11: 118,373,497 (GRCm39)	D280V	probably benign	Het
F11r	T	C	1: 171,289,209 (GRCm39)	S224P	probably damaging	Het
Fanca	A	G	8: 124,023,045 (GRCm39)	V564A	probably damaging	Het
Foxj2	G	T	6: 122,810,230 (GRCm39)	Q196H	probably benign	Het
Gle1	T	C	2: 29,826,073 (GRCm39)	W51R	possibly damaging	Het
Gm94	A	G	18: 43,925,836 (GRCm39)		probably null	Het
Gm9830	A	T	9: 44,375,721 (GRCm39)		noncoding transcript	Het
Gpaa1	T	A	15: 76,218,891 (GRCm39)		probably null	Het
Grin1	C	T	2: 25,182,475 (GRCm39)	A929T	possibly damaging	Het
Grm7	T	A	6: 110,891,332 (GRCm39)	D188E	probably damaging	Het
Gtf2ird2	T	C	5: 134,242,970 (GRCm39)	F395L	probably benign	Het
Lipo3	C	A	19: 33,757,795 (GRCm39)	G225C	probably damaging	Het
Lonrf2	T	A	1: 38,857,140 (GRCm39)		probably null	Het
Marveld2	A	G	13: 100,753,303 (GRCm39)		probably benign	Het
Mpl	A	G	4: 118,305,777 (GRCm39)	L416P	probably damaging	Het
Mppe1	A	G	18: 67,359,930 (GRCm39)	L312P	possibly damaging	Het
Mpzl3	T	A	9: 44,977,730 (GRCm39)	S113T	probably damaging	Het
Mylk3	G	A	8: 86,085,689 (GRCm39)	Q149*	probably null	Het
Myt1	T	A	2: 181,464,470 (GRCm39)	I968N	probably damaging	Het
Ndc80	A	G	17: 71,821,265 (GRCm39)	Y228H	probably damaging	Het
Nfrkb	C	A	9: 31,330,345 (GRCm39)	T1199K	possibly damaging	Het
Nipa2	A	G	7: 55,585,611 (GRCm39)	I109T	probably benign	Het
Nlrp4e	A	G	7: 23,042,525 (GRCm39)	T804A	probably benign	Het
Nsf	A	T	11: 103,763,419 (GRCm39)	I395K	possibly damaging	Het
Nt5c1b	G	A	12: 10,425,449 (GRCm39)	V331I	probably damaging	Het
Or13a28	A	T	7: 140,217,829 (GRCm39)	I72F	probably damaging	Het
Or1e29	A	G	11: 73,667,377 (GRCm39)	Y259H	probably damaging	Het
Pask	T	C	1: 93,265,246 (GRCm39)	D3G	probably damaging	Het
Pglyrp3	T	C	3: 91,933,037 (GRCm39)	V110A	possibly damaging	Het
Ppp4r3a	C	T	12: 101,019,825 (GRCm39)	V377M	probably damaging	Het
Prr12	A	G	7: 44,700,749 (GRCm39)		probably benign	Het
Ptdss1	G	A	13: 67,135,922 (GRCm39)		probably null	Het
Qser1	A	G	2: 104,620,246 (GRCm39)	S189P	probably damaging	Het
Rph3a	T	A	5: 121,092,551 (GRCm39)	Y350F	probably benign	Het
Skint4	A	T	4: 111,993,261 (GRCm39)	H328L	probably damaging	Het
Smyd4	G	A	11: 75,282,018 (GRCm39)	C497Y	probably damaging	Het
Stk11ip	T	C	1: 75,510,497 (GRCm39)	W864R	possibly damaging	Het
Stkld1	T	A	2: 26,841,757 (GRCm39)	V543E	probably damaging	Het
Taok2	A	G	7: 126,469,940 (GRCm39)	S963P	probably damaging	Het
Tars2	A	G	3: 95,653,959 (GRCm39)	L354P	probably damaging	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Tpcn2	A	G	7: 144,821,079 (GRCm39)	L325P	probably damaging	Het
Trappc3l	C	G	10: 33,974,807 (GRCm39)	H96Q	probably benign	Het
Trim66	A	T	7: 109,056,796 (GRCm39)	Y1120*	probably null	Het
Trio	G	A	15: 27,881,428 (GRCm39)	Q548*	probably null	Het
Wipf2	T	A	11: 98,781,558 (GRCm39)	D32E	probably benign	Het

Other mutations in Nelfcd

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01999:Nelfcd	APN	2	174,265,308 (GRCm39)	splice site	probably benign
IGL02175:Nelfcd	APN	2	174,262,175 (GRCm39)	missense	probably benign	0.01
IGL02955:Nelfcd	APN	2	174,264,391 (GRCm39)	missense	probably damaging	0.98
IGL03193:Nelfcd	APN	2	174,268,625 (GRCm39)	missense	possibly damaging	0.87
IGL03194:Nelfcd	APN	2	174,268,625 (GRCm39)	missense	possibly damaging	0.87
IGL03203:Nelfcd	APN	2	174,268,625 (GRCm39)	missense	possibly damaging	0.87
IGL03217:Nelfcd	APN	2	174,268,625 (GRCm39)	missense	possibly damaging	0.87
IGL03237:Nelfcd	APN	2	174,268,625 (GRCm39)	missense	possibly damaging	0.87
IGL03273:Nelfcd	APN	2	174,268,625 (GRCm39)	missense	possibly damaging	0.87
IGL03278:Nelfcd	APN	2	174,268,625 (GRCm39)	missense	possibly damaging	0.87
IGL03289:Nelfcd	APN	2	174,268,625 (GRCm39)	missense	possibly damaging	0.87
IGL03365:Nelfcd	APN	2	174,268,625 (GRCm39)	missense	possibly damaging	0.87
IGL03398:Nelfcd	APN	2	174,268,625 (GRCm39)	missense	possibly damaging	0.87
IGL03405:Nelfcd	APN	2	174,268,625 (GRCm39)	missense	possibly damaging	0.87
IGL03407:Nelfcd	APN	2	174,268,625 (GRCm39)	missense	possibly damaging	0.87
R0593:Nelfcd	UTSW	2	174,265,223 (GRCm39)	missense	probably benign	0.00
R0751:Nelfcd	UTSW	2	174,264,807 (GRCm39)	missense	probably benign	0.03
R1852:Nelfcd	UTSW	2	174,265,771 (GRCm39)	splice site	probably null
R2040:Nelfcd	UTSW	2	174,261,875 (GRCm39)	missense	probably damaging	1.00
R3606:Nelfcd	UTSW	2	174,268,337 (GRCm39)	missense	probably benign	0.10
R3716:Nelfcd	UTSW	2	174,264,798 (GRCm39)	missense	possibly damaging	0.51
R4235:Nelfcd	UTSW	2	174,268,841 (GRCm39)	missense	probably damaging	1.00
R4607:Nelfcd	UTSW	2	174,264,955 (GRCm39)	missense	probably benign	0.01
R5104:Nelfcd	UTSW	2	174,268,159 (GRCm39)	missense	probably benign	0.10
R5859:Nelfcd	UTSW	2	174,268,856 (GRCm39)	makesense	probably null
R6025:Nelfcd	UTSW	2	174,268,611 (GRCm39)	missense	probably damaging	1.00
R6104:Nelfcd	UTSW	2	174,265,250 (GRCm39)	missense	probably damaging	0.99
R6280:Nelfcd	UTSW	2	174,257,739 (GRCm39)	missense	probably benign
R7249:Nelfcd	UTSW	2	174,264,999 (GRCm39)	critical splice donor site	probably null
R7382:Nelfcd	UTSW	2	174,265,176 (GRCm39)	missense	probably benign	0.00
R7532:Nelfcd	UTSW	2	174,268,189 (GRCm39)	missense	probably damaging	1.00
R7545:Nelfcd	UTSW	2	174,265,771 (GRCm39)	splice site	probably null
R7766:Nelfcd	UTSW	2	174,268,625 (GRCm39)	missense	possibly damaging	0.87
R9011:Nelfcd	UTSW	2	174,268,717 (GRCm39)	missense	probably benign	0.15
R9094:Nelfcd	UTSW	2	174,265,861 (GRCm39)	missense	probably damaging	1.00
R9332:Nelfcd	UTSW	2	174,264,978 (GRCm39)	missense	probably benign	0.02
R9486:Nelfcd	UTSW	2	174,268,635 (GRCm39)	missense	probably damaging	1.00
R9695:Nelfcd	UTSW	2	174,266,923 (GRCm39)	missense	probably benign	0.34
Z1088:Nelfcd	UTSW	2	174,268,287 (GRCm39)	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- TTGAGACAGAGCACTCCCAG -3'
(R):5'- GACCGCACTCCATAATAGTCAGG -3'

Sequencing Primer
(F):5'- ACTCCCAGCTAGACGTGATG -3'
(R):5'- CACTCCATAATAGTCAGGGAGGTGTG -3'

Posted On

2015-12-29