Mutagenetix > Incidental Mutation

Incidental Mutation 'R2078:Narf'

229292

Institutional Source

Beutler Lab

Gene Symbol

Narf

Ensembl Gene

ENSMUSG00000000056

Gene Name

nuclear prelamin A recognition factor

Synonyms

4430402O11Rik

MMRRC Submission

040083-MU

Accession Numbers

Essential gene?

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

Stock #

R2078 (G1)

Quality Score

215

Status

Not validated

Chromosome

Chromosomal Location

121128079-121146682 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 121136220 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 199 (T199A)

Ref Sequence

ENSEMBL: ENSMUSP00000099304 (fasta)

Gene Model

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

AlphaFold

Q9CYQ7

Predicted Effect

probably benign
Transcript: ENSMUST00000103015
AA Change: T199A

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000099304
Gene: ENSMUSG00000000056
AA Change: T199A

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.6%

Validation Efficiency

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
Abcb6	C	A	1: 75,148,780 (GRCm39)	G55C	probably damaging	Het
Acss3	T	C	10: 106,802,902 (GRCm39)	T448A	possibly damaging	Het
Atxn7	A	G	14: 14,052,975 (GRCm38)	N138D	probably damaging	Het
Cacna2d4	A	T	6: 119,315,077 (GRCm39)	D869V	probably benign	Het
Cps1	T	G	1: 67,196,965 (GRCm39)	Y339D	probably damaging	Het
Cps1	T	C	1: 67,234,424 (GRCm39)	I937T	possibly damaging	Het
Dlgap4	T	C	2: 156,604,746 (GRCm39)	S261P	probably damaging	Het
Dusp6	T	C	10: 99,099,686 (GRCm39)	Y45H	probably damaging	Het
Ebag9	A	G	15: 44,500,200 (GRCm39)	N157S	probably damaging	Het
Exoc4	A	G	6: 33,887,522 (GRCm39)	D770G	probably benign	Het
Ezr	A	G	17: 7,050,041 (GRCm39)	M1T	probably null	Het
Fat4	A	G	3: 38,943,822 (GRCm39)	N905S	probably damaging	Het
Fcrlb	C	G	1: 170,735,650 (GRCm39)	R208P	probably damaging	Het
Flnb	T	C	14: 7,927,466 (GRCm38)	V1892A	probably damaging	Het
Gas2	G	A	7: 51,547,073 (GRCm39)	V75M	probably benign	Het
Gda	T	A	19: 21,378,036 (GRCm39)	D267V	probably damaging	Het
Gper1	A	T	5: 139,411,888 (GRCm39)	I78F	probably benign	Het
Hectd1	A	C	12: 51,795,325 (GRCm39)	I2368S	probably damaging	Het
Katna1	C	T	10: 7,619,333 (GRCm39)	P114S	probably benign	Het
Lce3c	G	A	3: 92,852,758 (GRCm39)	S73N	unknown	Het
Lrfn3	A	T	7: 30,059,879 (GRCm39)	D115E	possibly damaging	Het
Lrrc47	C	A	4: 154,103,888 (GRCm39)	T505K	probably damaging	Het
Mertk	C	T	2: 128,636,378 (GRCm39)	T784I	probably damaging	Het
Mettl21e	T	A	1: 44,245,662 (GRCm39)	I195F	possibly damaging	Het
Mff	T	C	1: 82,719,642 (GRCm39)	S207P	probably damaging	Het
Mtmr6	A	G	14: 60,529,436 (GRCm39)		probably null	Het
Myh9	T	C	15: 77,648,112 (GRCm39)	K1788R	probably benign	Het
Neurod6	A	G	6: 55,655,954 (GRCm39)	S228P	probably benign	Het
Notch4	A	T	17: 34,787,689 (GRCm39)		probably null	Het
Nyap2	T	C	1: 81,169,696 (GRCm39)	L151P	probably damaging	Het
Or5b21	T	A	19: 12,839,751 (GRCm39)	V204E	probably benign	Het
P2ry1	A	G	3: 60,911,118 (GRCm39)	I86V	probably damaging	Het
Pafah1b2	G	T	9: 45,880,127 (GRCm39)	D183E	probably damaging	Het
Phldb1	T	C	9: 44,619,276 (GRCm39)	E179G	probably damaging	Het
Piezo2	T	C	18: 63,250,791 (GRCm39)	E436G	probably damaging	Het
Pkhd1l1	A	G	15: 44,391,163 (GRCm39)	I1514V	probably benign	Het
Plch1	A	G	3: 63,609,364 (GRCm39)	S948P	probably benign	Het
Rfc5	A	G	5: 117,518,868 (GRCm39)	V296A	probably benign	Het
Rnf150	A	T	8: 83,730,234 (GRCm39)	I255F	probably damaging	Het
Rsbn1	A	G	3: 103,868,839 (GRCm39)	D626G	probably damaging	Het
Sfswap	A	G	5: 129,593,171 (GRCm39)	D346G	possibly damaging	Het
Slc38a11	A	T	2: 65,160,728 (GRCm39)	F289I	possibly damaging	Het
Terf2ip	A	G	8: 112,742,035 (GRCm39)	N243S	probably benign	Het
Tmed5	A	T	5: 108,272,471 (GRCm39)	V209E	probably damaging	Het
Tmem63b	A	G	17: 45,974,462 (GRCm39)	S603P	possibly damaging	Het
Tomm20	T	C	8: 127,663,822 (GRCm39)	M121V	possibly damaging	Het
Tspan33	G	A	6: 29,709,970 (GRCm39)	V45I	probably benign	Het
Usp17la	A	T	7: 104,508,600 (GRCm39)	M1L	probably benign	Het
Vsig8	C	A	1: 172,390,856 (GRCm39)	D301E	probably benign	Het
Vwa8	T	A	14: 79,145,597 (GRCm39)	H91Q	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
R3711:Narf	UTSW	11	121,137,764 (GRCm39)	nonsense	probably null
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'- GAGGAGGTATGTTGGCTCAC -3'
(R):5'- TTCCTAAGGCAGCCAGAACAG -3'

Sequencing Primer
(F):5'- CCGTGGGGTGACATGTGAC -3'
(R):5'- AACCAGGCAGTGTCTCCATG -3'

Posted On

2014-09-17