Mutagenetix > Incidental Mutation

Incidental Mutation 'R0635:Nrm'

56641

Institutional Source

Beutler Lab

Gene Symbol

Nrm

Ensembl Gene

ENSMUSG00000059791

Gene Name

nurim (nuclear envelope membrane protein)

Synonyms

2610307M02Rik

MMRRC Submission

038824-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.860) question?

Stock #

R0635 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

36172210-36176294 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 36175156 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 61 (Y61*)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000074259] [ENSMUST00000082337] [ENSMUST00000113814] [ENSMUST00000122899] [ENSMUST00000127442] [ENSMUST00000144382] [ENSMUST00000174873] [ENSMUST00000190496] [ENSMUST00000187690]

AlphaFold

Q8VC65

Predicted Effect

probably null
Transcript: ENSMUST00000074259
AA Change: Y161*

SMART Domains

Protein: ENSMUSP00000073873
Gene: ENSMUSG00000059791
AA Change: Y161*

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: ENSMUST00000082337

SMART Domains

Protein: ENSMUSP00000080949
Gene: ENSMUSG00000061607

Domain	Start	End	E-Value	Type
low complexity region	12	18	N/A	INTRINSIC
FHA	53	105	5.63e-9	SMART
low complexity region	194	215	N/A	INTRINSIC
low complexity region	854	870	N/A	INTRINSIC
low complexity region	969	987	N/A	INTRINSIC
low complexity region	1008	1022	N/A	INTRINSIC
internal_repeat_1	1027	1115	6.7e-11	PROSPERO
internal_repeat_2	1030	1141	2.36e-9	PROSPERO
internal_repeat_1	1266	1354	6.7e-11	PROSPERO
internal_repeat_2	1298	1417	2.36e-9	PROSPERO
low complexity region	1422	1445	N/A	INTRINSIC
low complexity region	1457	1477	N/A	INTRINSIC
BRCT	1502	1579	1.66e-1	SMART
BRCT	1612	1691	2.45e1	SMART

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 null
Transcript: ENSMUST00000172931
AA Change: Y61*

SMART Domains

Protein: ENSMUSP00000134569
Gene: ENSMUSG00000059791
AA Change: Y61*

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184224

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

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

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.4%
20x: 94.9%

Validation Efficiency

99% (68/69)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730455P16Rik	A	T	11: 80,264,891 (GRCm39)		probably benign	Het
Adamts15	A	G	9: 30,816,066 (GRCm39)	L631P	probably damaging	Het
Adamts17	T	C	7: 66,558,353 (GRCm39)	F266L	probably damaging	Het
Adgrb1	C	A	15: 74,412,741 (GRCm39)	Q488K	possibly damaging	Het
Armh4	A	G	14: 50,010,600 (GRCm39)	L369S	probably benign	Het
Cep290	A	G	10: 100,328,538 (GRCm39)	D109G	probably damaging	Het
Chil5	A	T	3: 105,924,519 (GRCm39)	Y229N	possibly damaging	Het
Cntnap1	A	G	11: 101,074,285 (GRCm39)	T742A	probably benign	Het
Col6a3	A	T	1: 90,735,808 (GRCm39)		probably null	Het
Col6a5	G	A	9: 105,805,805 (GRCm39)	P1034S	unknown	Het
Daxx	T	A	17: 34,131,618 (GRCm39)	D442E	probably benign	Het
Dmxl1	T	C	18: 49,984,490 (GRCm39)		probably benign	Het
Dnah11	A	G	12: 117,971,731 (GRCm39)	F2942S	probably damaging	Het
Garin4	T	C	1: 190,895,924 (GRCm39)	T240A	probably benign	Het
Glg1	A	G	8: 111,890,396 (GRCm39)		probably benign	Het
Gm10272	G	A	10: 77,542,535 (GRCm39)		probably benign	Het
Gm17333	AAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAA	AAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAA	16: 77,649,766 (GRCm39)		noncoding transcript	Het
Haao	A	G	17: 84,146,003 (GRCm39)	F83S	probably damaging	Het
Hdgfl2	T	A	17: 56,403,057 (GRCm39)	L177Q	probably damaging	Het
Hrh1	T	C	6: 114,457,106 (GRCm39)	V129A	probably damaging	Het
Ift43	T	A	12: 86,131,855 (GRCm39)		probably benign	Het
Il21r	T	C	7: 125,231,678 (GRCm39)	Y369H	probably damaging	Het
Il2ra	C	T	2: 11,685,177 (GRCm39)	T171M	probably benign	Het
Lao1	C	T	4: 118,825,493 (GRCm39)	R438C	probably benign	Het
Lrrcc1	G	A	3: 14,624,288 (GRCm39)	S350N	probably benign	Het
Mageb5	T	A	X: 90,823,599 (GRCm39)	Y260F	probably benign	Het
Marchf5	A	T	19: 37,197,807 (GRCm39)	I159F	possibly damaging	Het
Mgat4a	G	A	1: 37,491,375 (GRCm39)	A282V	probably benign	Het
Mipep	G	A	14: 61,066,839 (GRCm39)	V420I	probably damaging	Het
Morc2b	A	T	17: 33,356,661 (GRCm39)	F370L	possibly damaging	Het
Mt1	A	T	8: 94,906,449 (GRCm39)		probably null	Het
Ncapd2	A	G	6: 125,149,999 (GRCm39)	V943A	probably benign	Het
Nkd2	T	C	13: 73,975,013 (GRCm39)	D58G	probably benign	Het
Nol8	C	G	13: 49,830,234 (GRCm39)	S1106C	probably benign	Het
Nusap1	A	G	2: 119,458,148 (GRCm39)	T95A	probably damaging	Het
Ocln	T	A	13: 100,642,744 (GRCm39)	Q197L	probably damaging	Het
Or5p70	T	A	7: 107,994,971 (GRCm39)	F215I	probably benign	Het
Oxtr	A	G	6: 112,466,161 (GRCm39)	Y200H	probably damaging	Het
Paip2b	T	C	6: 83,786,891 (GRCm39)	E115G	possibly damaging	Het
Pcm1	T	A	8: 41,720,216 (GRCm39)		probably benign	Het
Pcnt	T	C	10: 76,240,419 (GRCm39)	D1205G	probably damaging	Het
Phka1	G	A	X: 101,665,006 (GRCm39)	R186C	probably damaging	Het
Pik3cb	A	G	9: 98,946,271 (GRCm39)		probably benign	Het
Pik3r1	C	T	13: 101,893,926 (GRCm39)	R81K	probably benign	Het
Ppa1	A	G	10: 61,501,219 (GRCm39)	D162G	probably benign	Het
Ppa1	A	G	10: 61,502,749 (GRCm39)	R191G	probably damaging	Het
Ppp4r3c2	T	C	X: 88,796,128 (GRCm39)		probably benign	Het
Prss22	T	A	17: 24,215,662 (GRCm39)	T87S	probably benign	Het
Rgr	T	A	14: 36,760,904 (GRCm39)	R218*	probably null	Het
Rreb1	A	T	13: 38,125,540 (GRCm39)	Q1282L	possibly damaging	Het
Scel	T	A	14: 103,820,575 (GRCm39)		probably null	Het
Sema6b	A	G	17: 56,436,971 (GRCm39)		probably null	Het
Slc4a1	T	C	11: 102,243,498 (GRCm39)	E711G	possibly damaging	Het
Snx19	C	A	9: 30,340,106 (GRCm39)	L415M	probably damaging	Het
Snx19	T	G	9: 30,340,107 (GRCm39)	L415R	probably damaging	Het
Specc1	G	A	11: 62,009,729 (GRCm39)	R495Q	probably damaging	Het
Tead1	T	C	7: 112,490,913 (GRCm39)		probably benign	Het
Timm10b	A	C	7: 105,289,895 (GRCm39)		probably benign	Het
Ubxn7	T	A	16: 32,186,235 (GRCm39)		probably benign	Het
Vmn2r116	T	A	17: 23,605,861 (GRCm39)	Y258N	possibly damaging	Het
Vmn2r77	T	A	7: 86,460,383 (GRCm39)	F570I	probably benign	Het
Vmn2r98	T	C	17: 19,300,759 (GRCm39)	V587A	probably benign	Het
Zfp398	T	C	6: 47,840,074 (GRCm39)	I101T	probably damaging	Het
Zfp808	T	A	13: 62,320,233 (GRCm39)	H487Q	probably 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
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
R6456:Nrm	UTSW	17	36,176,292 (GRCm39)	splice site	probably null
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'- ACCTGTCGGAAAGAGTCCTCGTAG -3'
(R):5'- TTGTAGCTGAGACCGAAGGTAGCG -3'

Sequencing Primer
(F):5'- GGAAAGAGTCCTCGTAGGTTATTG -3'
(R):5'- AGATCTTGCTGGTCAAGCC -3'

Posted On

2013-07-11