Mutagenetix > Incidental Mutation

Incidental Mutation 'R1571:Nrm'

186231

Institutional Source

Beutler Lab

Gene Symbol

Nrm

Ensembl Gene

ENSMUSG00000059791

Gene Name

nurim (nuclear envelope membrane protein)

Synonyms

2610307M02Rik

MMRRC Submission

039610-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.860) question?

Stock #

R1571 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

36172210-36176294 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 36175079 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 136 (W136R)

Ref Sequence

ENSEMBL: ENSMUSP00000073873 (fasta)

Gene Model

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

AlphaFold

Q8VC65

Predicted Effect

probably damaging
Transcript: ENSMUST00000074259
AA Change: W136R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000073873
Gene: ENSMUSG00000059791
AA Change: W136R

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

unknown
Transcript: ENSMUST00000172931
AA Change: W36R

SMART Domains

Protein: ENSMUSP00000134569
Gene: ENSMUSG00000059791
AA Change: W36R

Domain	Start	End	E-Value	Type
transmembrane domain	37	59	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

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: 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

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.4%
20x: 92.8%

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610524H06Rik	A	G	5: 114,961,372 (GRCm39)		probably null	Het
Abcd3	T	C	3: 121,586,491 (GRCm39)	I70V	possibly damaging	Het
Acad10	T	C	5: 121,759,411 (GRCm39)	Y1024C	probably damaging	Het
Atp2b3	T	G	X: 72,588,712 (GRCm39)	V701G	probably damaging	Het
Cbfa2t2	T	A	2: 154,342,347 (GRCm39)	M21K	probably damaging	Het
Cdc25a	C	T	9: 109,710,614 (GRCm39)	T106I	possibly damaging	Het
Cdhr5	T	C	7: 140,852,083 (GRCm39)	T190A	probably damaging	Het
Chl1	A	G	6: 103,685,445 (GRCm39)	T829A	probably benign	Het
Clcn6	T	C	4: 148,097,226 (GRCm39)	T614A	possibly damaging	Het
Cntln	A	T	4: 84,865,823 (GRCm39)	R160*	probably null	Het
Dclk2	C	T	3: 86,712,946 (GRCm39)	R503Q	possibly damaging	Het
Dock3	C	A	9: 106,815,158 (GRCm39)	M1236I	possibly damaging	Het
Eif4g3	T	A	4: 137,847,719 (GRCm39)	H213Q	probably damaging	Het
Eya1	T	A	1: 14,279,141 (GRCm39)	H372L	probably damaging	Het
Fam13b	A	G	18: 34,630,485 (GRCm39)	V91A	possibly damaging	Het
Hat1	T	A	2: 71,264,519 (GRCm39)	I319K	probably benign	Het
Kcnf1	T	C	12: 17,225,853 (GRCm39)	N123D	probably benign	Het
Kcns3	C	A	12: 11,141,551 (GRCm39)	G383W	probably damaging	Het
Kprp	A	T	3: 92,732,689 (GRCm39)	C120*	probably null	Het
Lama3	T	A	18: 12,672,774 (GRCm39)	C2456S	probably damaging	Het
Lrp1b	A	T	2: 41,366,658 (GRCm39)	D539E	probably damaging	Het
Matn3	T	C	12: 9,005,466 (GRCm39)	L292S	probably damaging	Het
Mbd3l1	T	A	9: 18,395,947 (GRCm39)	I24N	probably damaging	Het
Med10	T	C	13: 69,958,159 (GRCm39)	L37P	probably damaging	Het
Mrc1	A	T	2: 14,313,544 (GRCm39)	H925L	probably damaging	Het
Myo15a	T	A	11: 60,409,290 (GRCm39)	I3219N	probably damaging	Het
Nom1	C	T	5: 29,647,633 (GRCm39)	Q623*	probably null	Het
Or8h8	A	C	2: 86,753,789 (GRCm39)	V29G	probably benign	Het
Pde7b	T	C	10: 20,288,836 (GRCm39)	N298S	probably benign	Het
Piezo2	C	T	18: 63,277,990 (GRCm39)	A305T	possibly damaging	Het
Pimreg	T	C	11: 71,936,042 (GRCm39)	L175P	possibly damaging	Het
Pkhd1l1	A	G	15: 44,390,237 (GRCm39)	D1451G	probably benign	Het
Ptpro	A	G	6: 137,355,128 (GRCm39)	S212G	probably benign	Het
Rhpn1	C	T	15: 75,585,967 (GRCm39)	R627C	possibly damaging	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Rnase4	T	G	14: 51,342,497 (GRCm39)	F74V	probably damaging	Het
Sbno2	A	G	10: 79,896,226 (GRCm39)		probably null	Het
Selp	T	C	1: 163,954,176 (GRCm39)	Y159H	probably damaging	Het
Senp6	A	G	9: 80,000,853 (GRCm39)	T21A	probably damaging	Het
Slco1a7	A	T	6: 141,700,135 (GRCm39)	C132*	probably null	Het
Slco3a1	T	C	7: 74,154,128 (GRCm39)	D148G	possibly damaging	Het
Smtn	G	A	11: 3,480,102 (GRCm39)	P373L	probably benign	Het
Snx20	A	T	8: 89,356,597 (GRCm39)	L73Q	probably damaging	Het
Sobp	A	G	10: 43,033,942 (GRCm39)	V128A	possibly damaging	Het
Tcerg1	A	G	18: 42,657,357 (GRCm39)	T280A	unknown	Het
Tgfbrap1	A	G	1: 43,088,973 (GRCm39)	V810A	probably benign	Het
Thbs1	C	A	2: 117,949,678 (GRCm39)	D589E	probably damaging	Het
Tjp2	A	G	19: 24,078,239 (GRCm39)	Y885H	probably damaging	Het
Tmem109	A	G	19: 10,849,993 (GRCm39)	S100P	probably damaging	Het
Trim36	T	C	18: 46,305,562 (GRCm39)	K462E	probably benign	Het
Vmn1r226	A	T	17: 20,908,538 (GRCm39)	I257F	probably damaging	Het
Vmn2r92	A	G	17: 18,372,352 (GRCm39)	Y54C	probably damaging	Het
Wdcp	T	A	12: 4,901,924 (GRCm39)	Y593*	probably null	Het
Wdr59	T	C	8: 112,177,682 (GRCm39)	S907G	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
R0635:Nrm	UTSW	17	36,175,156 (GRCm39)	nonsense	probably null
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'- GGCCTCACAATAGCACTTGTCTTCC -3'
(R):5'- GAGACTTGCAGACGCAGATCTCAC -3'

Sequencing Primer
(F):5'- GTCCAGTCTCCAAAAAATCCTGTG -3'
(R):5'- CAGACGCAGATCTCACGTAGG -3'

Posted On

2014-05-09