Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02511:Nrm'

296566

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL02511

Quality Score

Status

Chromosome

Chromosomal Location

36172210-36176294 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 36172316 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 14 (S14P)

Ref Sequence

ENSEMBL: ENSMUSP00000073873 (fasta)

Gene Model

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

AlphaFold

Q8VC65

Predicted Effect

probably damaging
Transcript: ENSMUST00000074259
AA Change: S14P

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000073873
Gene: ENSMUSG00000059791
AA Change: S14P

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: 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

possibly damaging
Transcript: ENSMUST00000174873
AA Change: S14P

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000133355
Gene: ENSMUSG00000059791
AA Change: S14P

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

Coding Region Coverage

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Accsl	A	T	2: 93,692,111 (GRCm39)		probably benign	Het
Adam3	T	A	8: 25,185,192 (GRCm39)	D502V	probably damaging	Het
Adss2	T	C	1: 177,598,700 (GRCm39)		probably benign	Het
Ankrd36	T	A	11: 5,610,845 (GRCm39)		probably null	Het
Atf6b	T	C	17: 34,873,615 (GRCm39)	S692P	probably benign	Het
Cap2	T	C	13: 46,684,498 (GRCm39)	M1T	probably null	Het
Cdc45	C	T	16: 18,617,479 (GRCm39)	M200I	probably benign	Het
Cntn1	A	T	15: 92,114,266 (GRCm39)		probably benign	Het
Copg2	A	T	6: 30,835,757 (GRCm39)	F218Y	probably benign	Het
Dll4	G	A	2: 119,156,947 (GRCm39)	G73E	probably damaging	Het
Dzip3	T	C	16: 48,757,343 (GRCm39)	M897V	possibly damaging	Het
Ehbp1	T	C	11: 22,039,653 (GRCm39)	R816G	probably damaging	Het
Enoph1	T	C	5: 100,208,894 (GRCm39)	L83P	probably benign	Het
Enpep	A	G	3: 129,115,059 (GRCm39)	S238P	probably damaging	Het
Fermt1	A	C	2: 132,775,086 (GRCm39)		probably benign	Het
Gm6619	T	A	6: 131,467,330 (GRCm39)	I65K	possibly damaging	Het
Krtap31-2	T	A	11: 99,827,518 (GRCm39)	C117S	possibly damaging	Het
Ksr1	T	C	11: 78,936,046 (GRCm39)	D106G	possibly damaging	Het
Lgr4	A	T	2: 109,841,617 (GRCm39)	Y534F	probably benign	Het
Mamdc2	T	C	19: 23,356,095 (GRCm39)	T118A	probably benign	Het
Myo10	T	A	15: 25,723,975 (GRCm39)	I170N	probably damaging	Het
Myom2	T	C	8: 15,115,743 (GRCm39)	S53P	probably benign	Het
Npl	T	A	1: 153,391,227 (GRCm39)	D176V	probably damaging	Het
Or5al7	A	G	2: 85,992,363 (GRCm39)	I310T	probably benign	Het
Or5p70	T	A	7: 107,995,265 (GRCm39)	F313I	probably benign	Het
Or5v1b	A	G	17: 37,840,870 (GRCm39)	M1V	probably null	Het
Papola	T	A	12: 105,775,604 (GRCm39)	C204S	probably damaging	Het
Pard3	A	T	8: 127,888,070 (GRCm39)		probably benign	Het
Pdzd4	T	A	X: 72,838,206 (GRCm39)	M701L	probably damaging	Het
Pkhd1	A	T	1: 20,143,731 (GRCm39)	V3865E	possibly damaging	Het
Plxna3	C	A	X: 73,378,991 (GRCm39)	Q712K	probably damaging	Het
Pon1	A	G	6: 5,193,724 (GRCm39)	L9P	probably damaging	Het
Pygm	A	T	19: 6,435,718 (GRCm39)	I83F	probably benign	Het
Scyl2	A	G	10: 89,476,681 (GRCm39)	S815P	probably benign	Het
Serpina1a	C	T	12: 103,822,226 (GRCm39)	W212*	probably null	Het
Slc38a9	C	A	13: 112,834,541 (GRCm39)	D239E	possibly damaging	Het
Smad6	A	G	9: 63,860,859 (GRCm39)	F479L	probably damaging	Het
Smarcc2	T	C	10: 128,297,251 (GRCm39)	S48P	probably damaging	Het
Ttn	T	A	2: 76,768,034 (GRCm39)	M3022L	unknown	Het
Tulp1	C	A	17: 28,575,142 (GRCm39)	R441L	probably benign	Het
Ugt1a10	T	C	1: 87,983,585 (GRCm39)	F128L	probably damaging	Het
Ulk4	A	G	9: 121,017,420 (GRCm39)	V686A	probably damaging	Het
Ush2a	T	C	1: 188,475,884 (GRCm39)		probably null	Het
Ushbp1	T	C	8: 71,843,581 (GRCm39)	M286V	probably null	Het
Usp51	T	G	X: 151,791,726 (GRCm39)	I440R	probably damaging	Het
Wee1	G	T	7: 109,738,483 (GRCm39)	R532L	possibly damaging	Het
Zfhx4	A	G	3: 5,464,243 (GRCm39)	E1467G	probably damaging	Het
Zfp13	C	T	17: 23,795,072 (GRCm39)	A493T	probably benign	Het
Zfp551	A	G	7: 12,150,602 (GRCm39)	V269A	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
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
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

Posted On

2015-04-16