Mutagenetix > Incidental Mutation

Incidental Mutation 'R6456:Nrm'

520226

Institutional Source

Beutler Lab

Gene Symbol

Nrm

Ensembl Gene

ENSMUSG00000059791

Gene Name

nurim (nuclear envelope membrane protein)

Synonyms

2610307M02Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.836) question?

Stock #

R6456 (G1)

Quality Score

204.009

Status

Not validated

Chromosome

Chromosomal Location

36172210-36176294 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 36176292 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000073873 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000074259] [ENSMUST00000113814] [ENSMUST00000122899] [ENSMUST00000127442] [ENSMUST00000144382] [ENSMUST00000187690] [ENSMUST00000174873] [ENSMUST00000190496]

AlphaFold

Q8VC65

Predicted Effect

probably null
Transcript: ENSMUST00000074259

SMART Domains

Protein: ENSMUSP00000073873
Gene: ENSMUSG00000059791

Domain	Start	End	E-Value	Type
transmembrane domain	5	27	N/A	INTRINSIC
transmembrane domain	59	81	N/A	INTRINSIC
transmembrane domain	94	116	N/A	INTRINSIC
transmembrane domain	136	158	N/A	INTRINSIC
low complexity region	212	234	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000113814

SMART Domains

Protein: ENSMUSP00000109445
Gene: ENSMUSG00000034595

Domain	Start	End	E-Value	Type
Pfam:Phostensin_N	28	117	1.3e-42	PFAM
low complexity region	138	154	N/A	INTRINSIC
low complexity region	353	365	N/A	INTRINSIC
Pfam:Phostensin	417	541	7.7e-49	PFAM
low complexity region	560	573	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000122899

SMART Domains

Protein: ENSMUSP00000120343
Gene: ENSMUSG00000034595

Domain	Start	End	E-Value	Type
Pfam:Phostensin_N	28	117	1.3e-42	PFAM
low complexity region	138	154	N/A	INTRINSIC
low complexity region	353	365	N/A	INTRINSIC
Pfam:Phostensin	417	541	7.7e-49	PFAM
low complexity region	560	573	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000127442

SMART Domains

Protein: ENSMUSP00000115753
Gene: ENSMUSG00000034595

Domain	Start	End	E-Value	Type
Pfam:Phostensin_N	27	117	1.5e-39	PFAM
low complexity region	138	154	N/A	INTRINSIC
low complexity region	353	365	N/A	INTRINSIC
Pfam:Phostensin	417	540	6.9e-34	PFAM
low complexity region	560	573	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000144382

SMART Domains

Protein: ENSMUSP00000116100
Gene: ENSMUSG00000034595

Domain	Start	End	E-Value	Type
Pfam:Phostensin_N	28	117	1.3e-42	PFAM
low complexity region	138	154	N/A	INTRINSIC
low complexity region	353	365	N/A	INTRINSIC
Pfam:Phostensin	417	541	7.7e-49	PFAM
low complexity region	560	573	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145804

Predicted Effect

probably benign
Transcript: ENSMUST00000172931

SMART Domains

Protein: ENSMUSP00000134569
Gene: ENSMUSG00000059791

Domain	Start	End	E-Value	Type
transmembrane domain	37	59	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000187690

SMART Domains

Protein: ENSMUSP00000141094
Gene: ENSMUSG00000034595

Domain	Start	End	E-Value	Type
Pfam:Phostensin_N	28	117	1.3e-42	PFAM
low complexity region	138	154	N/A	INTRINSIC
low complexity region	353	365	N/A	INTRINSIC
Pfam:Phostensin	417	541	7.7e-49	PFAM
low complexity region	560	573	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000174873

SMART Domains

Protein: ENSMUSP00000133355
Gene: ENSMUSG00000059791

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184224

Predicted Effect

probably benign
Transcript: ENSMUST00000190496

SMART Domains

Protein: ENSMUSP00000140652
Gene: ENSMUSG00000034595

Domain	Start	End	E-Value	Type
Pfam:Phostensin	1	113	3.6e-43	PFAM
low complexity region	132	145	N/A	INTRINSIC

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.4%
20x: 91.8%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene contains transmembrane domains and resides within the inner nuclear membrane, where it is tightly associated with the nucleus. This protein shares homology with isoprenylcysteine carboxymethyltransferase enzymes. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Jul 2012]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	T	11: 9,240,474 (GRCm39)	H779L	possibly damaging	Het
Abca7	T	C	10: 79,850,984 (GRCm39)	V2097A	probably null	Het
Adam8	A	G	7: 139,566,701 (GRCm39)	S524P	possibly damaging	Het
Anapc2	T	C	2: 25,170,207 (GRCm39)	M575T	probably damaging	Het
Arhgap42	T	A	9: 9,005,823 (GRCm39)	I736L	probably benign	Het
AU040320	A	G	4: 126,736,284 (GRCm39)	N789S	probably benign	Het
Bmi1	A	G	2: 18,687,058 (GRCm39)	Y46C	probably damaging	Het
Brd10	G	A	19: 29,693,914 (GRCm39)	P1860S	possibly damaging	Het
Ccdc125	T	C	13: 100,832,817 (GRCm39)	S465P	possibly damaging	Het
Cd180	C	T	13: 102,839,344 (GRCm39)	L76F	probably damaging	Het
Cep135	T	C	5: 76,739,571 (GRCm39)		probably benign	Het
Col6a5	G	A	9: 105,822,676 (GRCm39)	T227I	unknown	Het
Cyp4a29	G	T	4: 115,108,381 (GRCm39)	M368I	probably benign	Het
Ddx28	T	A	8: 106,737,000 (GRCm39)	I353F	possibly damaging	Het
Dhx40	G	A	11: 86,675,800 (GRCm39)	T198M	probably damaging	Het
Dnai4	A	C	4: 102,906,746 (GRCm39)	M689R	probably benign	Het
Dync2i2	T	C	2: 29,922,779 (GRCm39)	S323G	probably benign	Het
Fat4	G	A	3: 39,038,128 (GRCm39)	V3927M	possibly damaging	Het
Garin1b	A	G	6: 29,334,045 (GRCm39)	N299S	probably benign	Het
Gm10226	G	T	17: 21,910,932 (GRCm39)	G56*	probably null	Het
H2-T15	A	T	17: 36,367,502 (GRCm39)	Y279N	probably damaging	Het
Itsn2	T	G	12: 4,679,923 (GRCm39)		probably benign	Het
Lrrc8a	A	G	2: 30,145,486 (GRCm39)	D100G	probably benign	Het
Madd	T	C	2: 91,008,536 (GRCm39)	H122R	probably benign	Het
Mfsd4b3-ps	C	G	10: 39,823,316 (GRCm39)	V315L	probably benign	Het
Mki67	C	G	7: 135,301,204 (GRCm39)	A1277P	possibly damaging	Het
Nlrp9b	T	A	7: 19,782,703 (GRCm39)	N872K	probably damaging	Het
Npas1	T	C	7: 16,195,851 (GRCm39)	T274A	probably benign	Het
Or10j2	A	T	1: 173,098,105 (GRCm39)	D121V	probably damaging	Het
Pdilt	T	A	7: 119,099,706 (GRCm39)	L187F	probably damaging	Het
Pkdcc	T	C	17: 83,527,548 (GRCm39)	I242T	probably damaging	Het
Plch2	C	A	4: 155,077,459 (GRCm39)	D535Y	probably damaging	Het
Pmpca	T	A	2: 26,285,179 (GRCm39)	I468N	probably damaging	Het
Prpf4	T	C	4: 62,332,869 (GRCm39)		probably null	Het
Rcc1	A	G	4: 132,061,427 (GRCm39)	S361P	probably benign	Het
Rigi	T	A	4: 40,213,838 (GRCm39)	N607Y	possibly damaging	Het
Rnf213	A	G	11: 119,350,792 (GRCm39)	I3876V	probably benign	Het
Sall2	T	A	14: 52,551,050 (GRCm39)	Q715L	probably damaging	Het
Sall2	G	A	14: 52,551,051 (GRCm39)	Q713*	probably null	Het
Sin3a	A	G	9: 57,020,985 (GRCm39)	S1004G	possibly damaging	Het
Sltm	C	T	9: 70,450,269 (GRCm39)	T23M	probably damaging	Het
Spata31e2	T	A	1: 26,724,250 (GRCm39)	H310L	probably damaging	Het
Sspo	A	G	6: 48,428,740 (GRCm39)	E385G	probably benign	Het
Syne3	G	T	12: 104,906,963 (GRCm39)	R775S	possibly damaging	Het
Szt2	A	T	4: 118,233,894 (GRCm39)		probably benign	Het
Tlk2	T	C	11: 105,112,099 (GRCm39)	S151P	probably benign	Het
Trabd2b	C	T	4: 114,443,757 (GRCm39)	R305C	probably damaging	Het
Ttc21b	T	C	2: 66,018,675 (GRCm39)	Q1244R	probably damaging	Het
Vmn2r125	A	G	4: 156,703,357 (GRCm39)	N245S	probably benign	Het
Wdr64	G	A	1: 175,613,175 (GRCm39)		probably null	Het
Wdr70	G	A	15: 7,915,118 (GRCm39)	T550M	possibly damaging	Het

Other mutations in Nrm

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00869:Nrm	APN	17	36,175,647 (GRCm39)	missense	probably benign	0.06
IGL02511:Nrm	APN	17	36,172,316 (GRCm39)	missense	probably damaging	1.00
R0211:Nrm	UTSW	17	36,175,503 (GRCm39)	missense	probably damaging	1.00
R0557:Nrm	UTSW	17	36,175,524 (GRCm39)	missense	probably damaging	1.00
R0602:Nrm	UTSW	17	36,175,156 (GRCm39)	nonsense	probably null
R0635:Nrm	UTSW	17	36,175,156 (GRCm39)	nonsense	probably null
R1571:Nrm	UTSW	17	36,175,079 (GRCm39)	missense	probably damaging	1.00
R2046:Nrm	UTSW	17	36,175,109 (GRCm39)	missense	probably benign	0.00
R4073:Nrm	UTSW	17	36,172,424 (GRCm39)	splice site	probably benign
R4612:Nrm	UTSW	17	36,174,421 (GRCm39)	missense	probably benign	0.00
R4828:Nrm	UTSW	17	36,175,082 (GRCm39)	missense	possibly damaging	0.72
R6038:Nrm	UTSW	17	36,172,397 (GRCm39)	missense	possibly damaging	0.83
R6322:Nrm	UTSW	17	36,175,605 (GRCm39)	missense	possibly damaging	0.73
R7345:Nrm	UTSW	17	36,175,476 (GRCm39)	missense	probably damaging	1.00
R8730:Nrm	UTSW	17	36,175,423 (GRCm39)	missense	probably benign
R9789:Nrm	UTSW	17	36,172,411 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- TAGTGGCTCTTTTGTACCGC -3'
(R):5'- AGAGTTATTCTGTCTCCCGTGG -3'

Sequencing Primer
(F):5'- TACCGCGGCTGTGCTTC -3'
(R):5'- GTTCCCTGATTTATACGCGGAGAAAC -3'

Posted On

2018-06-06