Mutagenetix > Incidental Mutation

Incidental Mutation 'R6280:Nelfcd'

531221

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

044450-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.949) question?

Stock #

R6280 (G1)

Quality Score

76.0075

Status

Validated

Chromosome

Chromosomal Location

174257623-174269298 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 174257739 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 26 (D26G)

Ref Sequence

ENSEMBL: ENSMUSP00000104703 (fasta)

Gene Model

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

AlphaFold

Q922L6

Predicted Effect

probably benign
Transcript: ENSMUST00000016397
AA Change: D26G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000016397
Gene: ENSMUSG00000016253
AA Change: D26G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000109075
AA Change: D26G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000104703
Gene: ENSMUSG00000016253
AA Change: D26G

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

Meta Mutation Damage Score

0.0592

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 95.9%

Validation Efficiency

100% (75/75)

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	C	T	1: 71,311,619 (GRCm39)	D1930N	probably benign	Het
Adam8	A	G	7: 139,564,720 (GRCm39)	L667S	probably damaging	Het
Adcy4	A	T	14: 56,016,500 (GRCm39)	I317N	probably damaging	Het
Agpat3	A	G	10: 78,120,872 (GRCm39)	F102S	probably damaging	Het
Apbb2	A	T	5: 66,522,325 (GRCm39)	W443R	probably damaging	Het
BC049715	T	A	6: 136,817,229 (GRCm39)	Y156*	probably null	Het
Bpifc	C	T	10: 85,813,576 (GRCm39)	V323I	probably benign	Het
Camp	T	G	9: 109,676,577 (GRCm39)	I149L	probably benign	Het
Cfap20dc	T	G	14: 8,473,414 (GRCm38)		probably null	Het
Cibar2	A	G	8: 120,898,858 (GRCm39)	I94T	possibly damaging	Het
Cnih1	A	G	14: 47,025,634 (GRCm39)		probably null	Het
Col18a1	A	T	10: 76,948,323 (GRCm39)		probably benign	Het
Dsg4	A	T	18: 20,599,724 (GRCm39)	D780V	probably damaging	Het
Dync1i1	G	A	6: 5,972,084 (GRCm39)	V442I	probably benign	Het
Fam83g	G	T	11: 61,594,008 (GRCm39)	S514I	probably benign	Het
Fbxo7	A	G	10: 85,864,969 (GRCm39)	N93D	probably benign	Het
Fgf20	G	T	8: 40,734,153 (GRCm39)	S76*	probably null	Het
Foxi1	A	G	11: 34,157,972 (GRCm39)	F18L	probably damaging	Het
Fxr1	G	A	3: 34,100,401 (GRCm39)		probably benign	Het
Gon4l	T	A	3: 88,798,195 (GRCm39)	L800H	probably damaging	Het
Gpn3	T	A	5: 122,512,022 (GRCm39)	S33T	probably benign	Het
Gria4	T	C	9: 4,456,072 (GRCm39)	M743V	probably damaging	Het
Hira	A	G	16: 18,729,457 (GRCm39)	N109D	probably damaging	Het
Hsd3b3	A	G	3: 98,660,621 (GRCm39)		probably null	Het
Hsf2	T	G	10: 57,387,591 (GRCm39)	S370A	probably benign	Het
Htt	T	A	5: 35,028,103 (GRCm39)	D1786E	probably benign	Het
Ifit1bl2	T	A	19: 34,597,534 (GRCm39)	R27S	possibly damaging	Het
Il17rb	G	A	14: 29,724,928 (GRCm39)	A186V	probably benign	Het
Irak4	G	T	15: 94,449,691 (GRCm39)	E57*	probably null	Het
Kcnh2	T	A	5: 24,536,921 (GRCm39)	H221L	probably benign	Het
Kdm2b	T	C	5: 123,016,687 (GRCm39)	N1149D	probably damaging	Het
Kif26a	A	G	12: 112,141,303 (GRCm39)	H702R	probably damaging	Het
Kmt2e	T	C	5: 23,704,514 (GRCm39)	S1236P	possibly damaging	Het
Krt77	T	A	15: 101,773,910 (GRCm39)	D248V	probably damaging	Het
Lgals3bp	T	C	11: 118,284,106 (GRCm39)	N52S	possibly damaging	Het
Lhfpl6	T	C	3: 53,167,935 (GRCm39)	Y170H	probably damaging	Het
Lpin2	A	G	17: 71,539,243 (GRCm39)		probably benign	Het
Lrig3	T	C	10: 125,846,848 (GRCm39)	I872T	probably benign	Het
Lrit3	T	C	3: 129,582,412 (GRCm39)	E525G	probably damaging	Het
Lrp1	T	C	10: 127,425,453 (GRCm39)	T726A	probably benign	Het
Mep1a	A	T	17: 43,813,283 (GRCm39)	N46K	probably damaging	Het
Muc16	C	A	9: 18,490,613 (GRCm39)		probably null	Het
N4bp1	A	C	8: 87,579,794 (GRCm39)	N669K	possibly damaging	Het
Neu4	G	A	1: 93,952,873 (GRCm39)	S414N	probably damaging	Het
Nudt9	A	G	5: 104,212,935 (GRCm39)	D336G	probably benign	Het
Obscn	C	A	11: 58,954,509 (GRCm39)	G3691V	possibly damaging	Het
Or4c52	A	C	2: 89,845,393 (GRCm39)	I40L	possibly damaging	Het
Or5t17	A	G	2: 86,832,364 (GRCm39)	N17S	probably damaging	Het
Pdgfd	T	A	9: 6,288,627 (GRCm39)	S94T	probably benign	Het
Picalm	A	G	7: 89,826,770 (GRCm39)	H290R	probably benign	Het
Pou2f3	A	T	9: 43,050,634 (GRCm39)	L242Q	probably damaging	Het
Pou2f3	G	T	9: 43,050,635 (GRCm39)	L242M	probably damaging	Het
Prkd3	C	T	17: 79,289,360 (GRCm39)	G187D	probably damaging	Het
Pwp1	A	G	10: 85,710,326 (GRCm39)	S49G	probably damaging	Het
Ralgapa2	A	G	2: 146,184,129 (GRCm39)	L1626P	probably damaging	Het
Resf1	T	C	6: 149,228,555 (GRCm39)	S534P	probably damaging	Het
Rin2	A	G	2: 145,702,939 (GRCm39)	Y545C	probably damaging	Het
Rwdd4a	A	G	8: 47,995,832 (GRCm39)	T71A	probably benign	Het
Senp7	T	C	16: 55,982,738 (GRCm39)	F504L	possibly damaging	Het
Slc12a6	A	G	2: 112,167,703 (GRCm39)	T231A	probably damaging	Het
Slc13a2	CGTTATCTGT	CGT	11: 78,294,306 (GRCm39)		probably benign	Het
Slc34a1	A	G	13: 24,006,377 (GRCm39)	S468G	probably benign	Het
Slc4a10	A	G	2: 62,112,310 (GRCm39)	N697S	probably benign	Het
Spint1	T	A	2: 119,075,759 (GRCm39)	V194E	possibly damaging	Het
Sptlc2	A	T	12: 87,434,905 (GRCm39)	M14K	probably benign	Het
Stard9	A	G	2: 120,531,608 (GRCm39)	K2622E	probably benign	Het
Tbc1d5	T	C	17: 51,089,338 (GRCm39)	N614S	probably benign	Het
Tdpoz2	A	T	3: 93,559,190 (GRCm39)	C261S	probably benign	Het
Tmem150b	A	T	7: 4,727,373 (GRCm39)	I44N	probably benign	Het
Ttn	A	G	2: 76,608,502 (GRCm39)	L17807P	probably damaging	Het
Vcan	G	A	13: 89,873,492 (GRCm39)	R121W	probably damaging	Het
Vmn2r15	T	A	5: 109,441,291 (GRCm39)	H189L	possibly damaging	Het
Vmn2r19	A	G	6: 123,313,212 (GRCm39)	S761G	probably benign	Het
Wdr11	A	T	7: 129,200,830 (GRCm39)	K34*	probably null	Het
Zfp120	A	T	2: 149,959,964 (GRCm39)	S141R	possibly damaging	Het
Zfp462	C	G	4: 55,010,253 (GRCm39)	P740A	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
R4775:Nelfcd	UTSW	2	174,268,369 (GRCm39)	missense	probably damaging	0.96
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
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'- TCCTACAAGGTGTTTCCCCG -3'
(R):5'- GGAAACTGAGGTCCCTAACG -3'

Sequencing Primer
(F):5'- GGCCAAAGACTAGGCCACG -3'
(R):5'- CCTAACGGGGCAGGACC -3'

Posted On

2018-08-06