Mutagenetix > Incidental Mutation

Incidental Mutation 'R3711:Narf'

259623

Institutional Source

Beutler Lab

Gene Symbol

Narf

Ensembl Gene

ENSMUSG00000000056

Gene Name

nuclear prelamin A recognition factor

Synonyms

4430402O11Rik

MMRRC Submission

040704-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.129) question?

Stock #

R3711 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

121128079-121146682 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 121137764 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Stop codon at position 224 (E224*)

Ref Sequence

ENSEMBL: ENSMUSP00000099304 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103015]

AlphaFold

Q9CYQ7

Predicted Effect

probably null
Transcript: ENSMUST00000103015
AA Change: E224*

SMART Domains

Protein: ENSMUSP00000099304
Gene: ENSMUSG00000000056
AA Change: E224*

Domain	Start	End	E-Value	Type
Pfam:Fe_hyd_lg_C	98	391	1e-75	PFAM
Fe_hyd_SSU	396	452	5.66e-19	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151088

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154047

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.9%

Validation Efficiency

98% (51/52)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Several proteins have been found to be prenylated and methylated at their carboxyl-terminal ends. Prenylation was initially believed to be important only for membrane attachment. However, another role for prenylation appears to be its importance in protein-protein interactions. The only nuclear proteins known to be prenylated in mammalian cells are prelamin A- and B-type lamins. Prelamin A is farnesylated and carboxymethylated on the cysteine residue of a carboxyl-terminal CaaX motif. This post-translationally modified cysteine residue is removed from prelamin A when it is endoproteolytically processed into mature lamin A. The protein encoded by this gene binds to the prenylated prelamin A carboxyl-terminal tail domain. It may be a component of a prelamin A endoprotease complex. The encoded protein is located in the nucleus, where it partially colocalizes with the nuclear lamina. It shares limited sequence similarity with iron-only bacterial hydrogenases. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene, including one with a novel exon that is generated by RNA editing. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	A	G	11: 109,837,081 (GRCm39)	V1138A	possibly damaging	Het
Adgrv1	A	T	13: 81,567,594 (GRCm39)	I5193K	probably benign	Het
Adnp	A	T	2: 168,026,743 (GRCm39)	I184N	probably damaging	Het
Ahnak	T	G	19: 8,985,262 (GRCm39)	V2182G	probably benign	Het
Aif1l	T	A	2: 31,859,763 (GRCm39)	F94L	probably damaging	Het
Aspm	G	A	1: 139,385,838 (GRCm39)	G494D	probably benign	Het
Atic	T	A	1: 71,617,738 (GRCm39)	S563T	probably benign	Het
Bahcc1	A	T	11: 120,165,923 (GRCm39)	I1060F	probably benign	Het
Cd27	A	G	6: 125,210,281 (GRCm39)	Y189H	probably damaging	Het
Dnm2	C	A	9: 21,417,669 (GRCm39)		probably benign	Het
Exo1	A	G	1: 175,721,395 (GRCm39)	T345A	probably benign	Het
Fbf1	T	C	11: 116,052,299 (GRCm39)	H53R	possibly damaging	Het
Fbf1	A	G	11: 116,054,179 (GRCm39)	I29T	probably damaging	Het
Gm14399	G	A	2: 174,973,303 (GRCm39)	R151*	probably null	Het
Gsdma	T	A	11: 98,557,045 (GRCm39)	Y53*	probably null	Het
Hid1	A	T	11: 115,249,601 (GRCm39)	L208Q	probably damaging	Het
Kif4-ps	A	G	12: 101,112,312 (GRCm39)	E147G	probably damaging	Het
Kif7	A	T	7: 79,360,640 (GRCm39)	V245D	probably benign	Het
Klhdc4	A	G	8: 122,524,794 (GRCm39)	V378A	probably benign	Het
Lrfn2	A	G	17: 49,378,188 (GRCm39)	E423G	possibly damaging	Het
Lrp4	T	A	2: 91,332,299 (GRCm39)	N1665K	probably benign	Het
Mast3	C	A	8: 71,232,251 (GRCm39)	R1242L	probably benign	Het
Mon1b	T	C	8: 114,365,779 (GRCm39)	M369T	possibly damaging	Het
Mta3	A	G	17: 84,070,417 (GRCm39)	I193V	probably damaging	Het
Nedd4l	G	A	18: 65,342,790 (GRCm39)	V909I	possibly damaging	Het
Nmnat3	T	A	9: 98,292,276 (GRCm39)	Y108N	probably damaging	Het
Npr2	A	T	4: 43,643,378 (GRCm39)	Y534F	probably benign	Het
Obox5	A	T	7: 15,492,713 (GRCm39)	M223L	probably benign	Het
Optc	A	T	1: 133,832,819 (GRCm39)	S94T	probably benign	Het
Or10al5	T	A	17: 38,063,271 (GRCm39)	C175*	probably null	Het
Or1l4	A	G	2: 37,091,285 (GRCm39)	T11A	probably benign	Het
Or5d47	A	T	2: 87,804,066 (GRCm39)	N314K	probably benign	Het
Or6c206	A	T	10: 129,097,093 (GRCm39)	K88*	probably null	Het
Or8w1	T	C	2: 87,466,025 (GRCm39)	D22G	probably benign	Het
Rbm27	T	C	18: 42,425,177 (GRCm39)		probably benign	Het
Spopl	C	T	2: 23,427,392 (GRCm39)	R221Q	probably damaging	Het
Stab2	A	G	10: 86,702,572 (GRCm39)	L423P	probably damaging	Het
Sun5	A	G	2: 153,709,468 (GRCm39)	V74A	probably benign	Het
Tanc2	A	G	11: 105,689,516 (GRCm39)	Y226C	probably damaging	Het
Tlr6	T	C	5: 65,111,152 (GRCm39)	D585G	possibly damaging	Het
Tmt1a3	A	T	15: 100,232,961 (GRCm39)	M51L	probably benign	Het
Tnrc6c	A	G	11: 117,613,950 (GRCm39)	T863A	probably benign	Het
Ush2a	G	A	1: 188,542,489 (GRCm39)	G3352S	probably benign	Het
Wt1	G	A	2: 104,993,773 (GRCm39)		probably benign	Het
Ythdc2	C	T	18: 44,966,240 (GRCm39)	L159F	probably damaging	Het
Zc3h6	A	G	2: 128,859,251 (GRCm39)	N1094S	probably benign	Het
Zdbf2	T	C	1: 63,347,830 (GRCm39)	S2070P	possibly damaging	Het
Zfp648	T	A	1: 154,080,304 (GRCm39)	S154R	probably benign	Het
Zfp748	A	G	13: 67,688,915 (GRCm39)	C782R	probably damaging	Het
Zfp992	C	T	4: 146,551,976 (GRCm39)	H566Y	probably damaging	Het

Other mutations in Narf

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00402:Narf	APN	11	121,129,344 (GRCm39)	critical splice donor site	probably null
R0128:Narf	UTSW	11	121,141,662 (GRCm39)	missense	probably damaging	1.00
R0542:Narf	UTSW	11	121,143,690 (GRCm39)	missense	probably damaging	1.00
R1326:Narf	UTSW	11	121,133,379 (GRCm39)	missense	probably damaging	1.00
R2035:Narf	UTSW	11	121,129,326 (GRCm39)	missense	probably benign	0.00
R2049:Narf	UTSW	11	121,141,195 (GRCm39)	nonsense	probably null
R2078:Narf	UTSW	11	121,136,220 (GRCm39)	missense	probably benign	0.03
R3967:Narf	UTSW	11	121,129,247 (GRCm39)	missense	possibly damaging	0.92
R3968:Narf	UTSW	11	121,129,247 (GRCm39)	missense	possibly damaging	0.92
R3970:Narf	UTSW	11	121,129,247 (GRCm39)	missense	possibly damaging	0.92
R4128:Narf	UTSW	11	121,141,261 (GRCm39)	splice site	probably null
R4913:Narf	UTSW	11	121,135,469 (GRCm39)	missense	probably damaging	1.00
R4928:Narf	UTSW	11	121,135,765 (GRCm39)	missense	possibly damaging	0.87
R4946:Narf	UTSW	11	121,141,179 (GRCm39)	missense	possibly damaging	0.71
R5404:Narf	UTSW	11	121,133,452 (GRCm39)	missense	probably benign	0.00
R5799:Narf	UTSW	11	121,135,480 (GRCm39)	missense	probably damaging	1.00
R6753:Narf	UTSW	11	121,133,452 (GRCm39)	missense	probably benign	0.00
R6912:Narf	UTSW	11	121,129,287 (GRCm39)	missense	probably benign	0.00
R7311:Narf	UTSW	11	121,139,976 (GRCm39)	missense	probably benign	0.31
R8056:Narf	UTSW	11	121,136,170 (GRCm39)	missense	possibly damaging	0.89
R8559:Narf	UTSW	11	121,141,258 (GRCm39)	critical splice donor site	probably null
R9021:Narf	UTSW	11	121,136,209 (GRCm39)	missense	probably damaging	0.98
X0011:Narf	UTSW	11	121,141,698 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTCAGGTAGAGCAGGTGCAG -3'
(R):5'- GGAGAAAGACTCTGAAGAACCTTC -3'

Sequencing Primer
(F):5'- AGGTGCAGCACAAACTGTTCTTG -3'
(R):5'- TCACTTTAGGCCACTGAGACC -3'

Posted On

2015-01-23