Mutagenetix > Incidental Mutation

Incidental Mutation 'R7345:Nrm'

570169

Institutional Source

Beutler Lab

Gene Symbol

Nrm

Ensembl Gene

ENSMUSG00000059791

Gene Name

nurim (nuclear envelope membrane protein)

Synonyms

2610307M02Rik

MMRRC Submission

045379-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.836) question?

Stock #

R7345 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

36172210-36176294 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 36175476 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 194 (H194R)

Ref Sequence

ENSEMBL: ENSMUSP00000073873 (fasta)

Gene Model

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

AlphaFold

Q8VC65

Predicted Effect

probably damaging
Transcript: ENSMUST00000074259
AA Change: H194R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000073873
Gene: ENSMUSG00000059791
AA Change: H194R

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

SMART Domains

Protein: ENSMUSP00000134569
Gene: ENSMUSG00000059791
AA Change: H94R

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

Predicted Effect

silent
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: 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: 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: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (55/55)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Anks3	A	G	16: 4,773,774 (GRCm39)	M174T	possibly damaging	Het
Arhgap23	G	A	11: 97,357,304 (GRCm39)	R934Q	possibly damaging	Het
Atad5	T	C	11: 79,986,832 (GRCm39)	S640P	probably damaging	Het
B3galnt2	C	T	13: 14,155,065 (GRCm39)		probably null	Het
B430305J03Rik	T	C	3: 61,271,539 (GRCm39)	S69G	unknown	Het
Cd163	A	T	6: 124,295,897 (GRCm39)	N747I	possibly damaging	Het
Cep126	A	G	9: 8,099,817 (GRCm39)	S906P	probably damaging	Het
Cimip2b	T	C	4: 43,428,022 (GRCm39)	D145G	possibly damaging	Het
Cyp4f39	G	A	17: 32,705,753 (GRCm39)	G318R	probably damaging	Het
D630003M21Rik	C	T	2: 158,059,129 (GRCm39)	G257D	probably damaging	Het
Dcaf10	T	C	4: 45,342,583 (GRCm39)	L139P	probably damaging	Het
Dcc	A	G	18: 71,511,895 (GRCm39)	V840A	probably benign	Het
Dnhd1	A	T	7: 105,353,174 (GRCm39)	I2776L	probably benign	Het
Fbxo24	G	T	5: 137,619,523 (GRCm39)	F234L	probably damaging	Het
Gm21190	T	C	5: 15,732,902 (GRCm39)		probably null	Het
Grhl3	C	T	4: 135,273,557 (GRCm39)	R565Q	probably damaging	Het
Gtf3c1	A	T	7: 125,244,842 (GRCm39)	Y1731N	probably damaging	Het
Il1a	C	A	2: 129,146,693 (GRCm39)	R133S	probably benign	Het
Ipo4	C	T	14: 55,872,988 (GRCm39)	R23Q	probably benign	Het
Klc3	G	A	7: 19,128,814 (GRCm39)	T481M	probably benign	Het
Map2k6	A	T	11: 110,383,734 (GRCm39)	I127F		Het
Mapk8	A	T	14: 33,130,068 (GRCm39)	N63K	probably damaging	Het
Med13l	T	C	5: 118,880,825 (GRCm39)	W1306R	probably damaging	Het
Megf6	C	A	4: 154,351,772 (GRCm39)	Q1162K	probably benign	Het
Myo5b	A	G	18: 74,841,095 (GRCm39)	E992G	possibly damaging	Het
Ndst4	C	T	3: 125,508,308 (GRCm39)	T291M	probably benign	Het
Nek10	T	A	14: 14,955,503 (GRCm38)	F838L	probably benign	Het
Nup188	T	C	2: 30,230,613 (GRCm39)	S1384P	probably benign	Het
Olfml2a	C	A	2: 38,850,139 (GRCm39)	D618E	probably damaging	Het
Or5p78	C	T	7: 108,212,270 (GRCm39)	T252I	probably benign	Het
Or8g23	A	G	9: 38,971,875 (GRCm39)	L29P	probably damaging	Het
Or8g24	G	A	9: 38,989,630 (GRCm39)	S137F	probably damaging	Het
Or9s18	A	C	13: 65,300,557 (GRCm39)	N173T	possibly damaging	Het
P2ry1	T	C	3: 60,911,095 (GRCm39)	F78S	possibly damaging	Het
Pcdhb18	T	C	18: 37,624,976 (GRCm39)	F769L	probably benign	Het
Poc5	A	G	13: 96,533,304 (GRCm39)	E144G	probably damaging	Het
Pole	T	A	5: 110,451,769 (GRCm39)	N870K	possibly damaging	Het
Polr2b	T	C	5: 77,496,966 (GRCm39)	F1159L	possibly damaging	Het
Pramel32	T	C	4: 88,546,416 (GRCm39)	K309E	possibly damaging	Het
Rubcnl	A	G	14: 75,279,793 (GRCm39)	Y392C	probably benign	Het
Sec31a	T	C	5: 100,533,129 (GRCm39)	T539A	probably damaging	Het
Serpinh1	A	C	7: 98,995,563 (GRCm39)	S340A	probably damaging	Het
Slc1a5	T	A	7: 16,530,085 (GRCm39)		probably null	Het
Soat2	A	G	15: 102,071,013 (GRCm39)	D469G	probably benign	Het
Speg	T	C	1: 75,361,479 (GRCm39)	L70P	probably damaging	Het
Spred2	T	C	11: 19,874,958 (GRCm39)		probably null	Het
Stac2	A	C	11: 97,933,439 (GRCm39)	S168A	probably damaging	Het
Stx1a	T	A	5: 135,066,042 (GRCm39)	D31E	probably benign	Het
Timeless	C	T	10: 128,085,623 (GRCm39)	T885M	probably damaging	Het
Tmem94	G	T	11: 115,677,082 (GRCm39)	R118L	possibly damaging	Het
Tsen34	T	C	7: 3,698,614 (GRCm39)	Y253H	probably damaging	Het
Unc13b	T	C	4: 43,173,966 (GRCm39)	V1598A	unknown	Het
Zfat	A	T	15: 67,976,892 (GRCm39)	Y1086N	probably damaging	Het
Zfp551	G	A	7: 12,150,522 (GRCm39)	H296Y	probably benign	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
R6456:Nrm	UTSW	17	36,176,292 (GRCm39)	splice site	probably null
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'- GAGAGTGACTGTAGGTCTCCTG -3'
(R):5'- GAACTAGCTCCTCACTCTGC -3'

Sequencing Primer
(F):5'- ACTGTAGGTCTCCTGGGCTTTG -3'
(R):5'- TTCCCCATCCTGAGGTCTGGAG -3'

Posted On

2019-09-13