Mutagenetix > Incidental Mutation

Incidental Mutation 'R5011:Lbr'

390474

Institutional Source

Beutler Lab

Gene Symbol

Lbr

Ensembl Gene

ENSMUSG00000004880

Gene Name

lamin B receptor

Synonyms

MMRRC Submission

042602-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.923) question?

Stock #

R5011 (G1)

Quality Score

149

Status

Validated

Chromosome

Chromosomal Location

181642880-181669966 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 181647453 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 199 (Y199*)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000005003]

AlphaFold

Q3U9G9

Predicted Effect

probably null
Transcript: ENSMUST00000005003
AA Change: Y441*

SMART Domains

Protein: ENSMUSP00000005003
Gene: ENSMUSG00000004880
AA Change: Y441*

Domain	Start	End	E-Value	Type
TUDOR	4	62	6.7e-9	SMART
low complexity region	63	101	N/A	INTRINSIC
low complexity region	111	121	N/A	INTRINSIC
Pfam:ERG4_ERG24	194	626	4.6e-161	PFAM
Pfam:DUF1295	452	617	1.1e-9	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192075

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194302

Predicted Effect

probably null
Transcript: ENSMUST00000194415
AA Change: Y199*

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000195808

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.5%

Validation Efficiency

100% (104/104)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the ERG4/ERG24 family. It localized in the nuclear envelope inner membrane and anchors the lamina and the heterochromatin to the membrane. It may mediate interaction between chromatin and lamin B. Mutations of this gene has been associated with autosomal recessive HEM/Greenberg skeletal dysplasia. Alternative splicing occurs at this locus and two transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mutations in this gene result in abnormal skin and hair and impair growth. [provided by MGI curators]

Allele List at MGI

All alleles(23) : Gene trapped(17) Spontaneous(6)

Other mutations in this stock

Total: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810010H24Rik	T	C	11: 106,919,324 (GRCm39)	V223A	probably damaging	Het
2700049A03Rik	G	T	12: 71,211,320 (GRCm39)	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,211,321 (GRCm39)	E685V	possibly damaging	Het
Ahctf1	A	T	1: 179,611,675 (GRCm39)	I565N	possibly damaging	Het
Ank1	C	T	8: 23,572,300 (GRCm39)	T70I	probably damaging	Het
Atg16l1	C	A	1: 87,701,902 (GRCm39)	S248*	probably null	Het
Atp13a5	A	T	16: 29,169,566 (GRCm39)	L42Q	probably damaging	Het
Atxn1	T	C	13: 45,710,545 (GRCm39)	N796D	probably damaging	Het
C3	T	A	17: 57,530,236 (GRCm39)	Y455F	probably benign	Het
Card11	A	T	5: 140,862,275 (GRCm39)	D1007E	possibly damaging	Het
Cbr2	T	C	11: 120,621,697 (GRCm39)	D60G	possibly damaging	Het
Cgn	T	A	3: 94,683,455 (GRCm39)	E400V	probably null	Het
Chil3	T	A	3: 106,057,477 (GRCm39)	Y229F	possibly damaging	Het
Clcn2	G	A	16: 20,525,965 (GRCm39)	P785S	probably damaging	Het
Clk1	T	C	1: 58,453,642 (GRCm39)	I315V	probably benign	Het
Cops6	A	G	5: 138,160,459 (GRCm39)	D102G	probably benign	Het
Dennd5a	A	G	7: 109,513,983 (GRCm39)	I743T	possibly damaging	Het
Dnaaf5	T	A	5: 139,149,012 (GRCm39)	L437Q	probably damaging	Het
Dnah12	T	A	14: 26,431,326 (GRCm39)	D381E	probably benign	Het
Dnah8	G	A	17: 30,967,542 (GRCm39)	D2585N	probably benign	Het
Draxin	C	A	4: 148,192,436 (GRCm39)	R292L	probably damaging	Het
Dst	T	C	1: 34,289,728 (GRCm39)	V5776A	probably damaging	Het
Eddm13	G	A	7: 6,269,332 (GRCm39)		probably benign	Het
Ercc4	G	A	16: 12,941,445 (GRCm39)		probably benign	Het
Eya1	T	A	1: 14,254,582 (GRCm39)	N417Y	probably damaging	Het
Fam149b	T	A	14: 20,413,439 (GRCm39)	H219Q	possibly damaging	Het
Fam227b	G	A	2: 125,958,043 (GRCm39)	P241S	probably damaging	Het
Fat1	A	T	8: 45,484,300 (GRCm39)		probably null	Het
Fbxl18	A	G	5: 142,872,435 (GRCm39)	S267P	probably damaging	Het
Fer1l4	T	C	2: 155,873,135 (GRCm39)	Y1315C	probably damaging	Het
Fgd2	T	C	17: 29,593,954 (GRCm39)		probably null	Het
Gm7251	T	A	13: 49,958,656 (GRCm39)		noncoding transcript	Het
Golt1a	T	C	1: 133,248,006 (GRCm39)	V78A	probably damaging	Het
Gsn	T	A	2: 35,188,933 (GRCm39)	Y440N	probably damaging	Het
Gtf2ird2	G	T	5: 134,245,824 (GRCm39)	S694I	possibly damaging	Het
H2-Ob	T	A	17: 34,460,253 (GRCm39)		probably null	Het
Hsp90b1	T	C	10: 86,532,617 (GRCm39)	D353G	probably benign	Het
Ilk	A	G	7: 105,391,456 (GRCm39)	D374G	probably damaging	Het
Invs	G	A	4: 48,421,807 (GRCm39)	R813Q	probably damaging	Het
Itga7	G	A	10: 128,785,316 (GRCm39)	V836M	possibly damaging	Het
Itln1	T	A	1: 171,360,958 (GRCm39)	K45*	probably null	Het
Ivd	A	G	2: 118,710,946 (GRCm39)	Y385C	probably damaging	Het
Ivns1abp	T	A	1: 151,238,953 (GRCm39)	M589K	possibly damaging	Het
Jakmip3	C	T	7: 138,621,951 (GRCm39)	R284W	probably damaging	Het
Kank3	T	C	17: 34,041,044 (GRCm39)	L512P	probably damaging	Het
Kcnn2	T	A	18: 45,818,352 (GRCm39)	I483N	possibly damaging	Het
Klk1b4	A	G	7: 43,860,492 (GRCm39)	N170S	probably benign	Het
Klk1b9	A	C	7: 43,445,419 (GRCm39)	D203A	probably damaging	Het
Lcn6	T	A	2: 25,567,082 (GRCm39)		probably null	Het
Lrriq1	T	C	10: 103,025,784 (GRCm39)	D946G	probably damaging	Het
Ltbp1	T	A	17: 75,373,152 (GRCm39)	L265H	probably damaging	Het
Maml3	A	T	3: 51,598,196 (GRCm39)	N183K	possibly damaging	Het
Mprip	T	C	11: 59,650,721 (GRCm39)	V1475A	possibly damaging	Het
Myh4	C	A	11: 67,147,189 (GRCm39)	S1611R	probably benign	Het
Nagpa	A	T	16: 5,013,743 (GRCm39)	M365K	probably benign	Het
Nckap5l	G	T	15: 99,324,457 (GRCm39)	P682Q	probably benign	Het
Nudt12	T	C	17: 59,303,499 (GRCm39)		probably benign	Het
Nup153	T	C	13: 46,840,879 (GRCm39)	T910A	possibly damaging	Het
Or1e31	T	A	11: 73,690,473 (GRCm39)	T37S	possibly damaging	Het
Or5ae2	T	C	7: 84,505,646 (GRCm39)	V23A	probably damaging	Het
Or7c74	A	G	2: 37,160,937 (GRCm39)		noncoding transcript	Het
Or8k53	A	T	2: 86,177,647 (GRCm39)	F154L	probably benign	Het
Pate14	T	C	9: 36,549,120 (GRCm39)	N47D	probably benign	Het
Pbx2	T	A	17: 34,813,673 (GRCm39)	C224*	probably null	Het
Pcdha6	A	G	18: 37,100,960 (GRCm39)	D51G	probably damaging	Het
Pnpla1	C	T	17: 29,104,558 (GRCm39)	T538I	possibly damaging	Het
Pnpla2	T	C	7: 141,039,204 (GRCm39)		probably null	Het
Psme2b	C	T	11: 48,836,654 (GRCm39)	E98K	probably benign	Het
Ranbp2	T	A	10: 58,297,717 (GRCm39)	S375T	probably benign	Het
Rimbp2	T	C	5: 128,880,985 (GRCm39)	Y134C	probably damaging	Het
Ryr1	G	A	7: 28,802,234 (GRCm39)		probably null	Het
Sh3tc1	G	T	5: 35,857,633 (GRCm39)	A1185D	probably damaging	Het
Sin3b	G	A	8: 73,471,184 (GRCm39)	S377N	probably benign	Het
Slc28a2	T	C	2: 122,288,371 (GRCm39)	M554T	possibly damaging	Het
Snhg11	T	C	2: 158,218,872 (GRCm39)		probably benign	Het
Spink5	A	T	18: 44,139,479 (GRCm39)	N614I	probably damaging	Het
Tert	T	C	13: 73,794,428 (GRCm39)		probably null	Het
Thap4	T	C	1: 93,677,598 (GRCm39)	Y396C	probably damaging	Het
Tle2	T	C	10: 81,420,531 (GRCm39)	L348P	probably damaging	Het
Tmem104	T	C	11: 115,134,312 (GRCm39)	S283P	probably damaging	Het
Tnn	T	C	1: 159,953,949 (GRCm39)	E602G	possibly damaging	Het
Tpm4	A	G	8: 72,900,938 (GRCm39)	K190R	probably benign	Het
Ttf2	T	C	3: 100,870,485 (GRCm39)	E196G	probably benign	Het
Ugt3a1	T	C	15: 9,365,373 (GRCm39)	W329R	probably damaging	Het
Unc13a	G	A	8: 72,094,121 (GRCm39)	Q1327*	probably null	Het
Vmn1r194	C	T	13: 22,429,058 (GRCm39)	T225I	probably benign	Het
Vmn1r215	T	C	13: 23,260,721 (GRCm39)	S254P	probably damaging	Het
Vmn2r109	T	C	17: 20,775,451 (GRCm39)	E92G	probably damaging	Het
Ythdc2	A	G	18: 44,987,809 (GRCm39)	M625V	probably benign	Het
Zfp106	A	G	2: 120,341,015 (GRCm39)	W1832R	probably damaging	Het
Zfp189	G	A	4: 49,530,438 (GRCm39)	G514S	probably damaging	Het
Zfp768	T	C	7: 126,942,875 (GRCm39)	R418G	probably damaging	Het
Zmynd11	C	T	13: 9,739,479 (GRCm39)		probably benign	Het

Other mutations in Lbr

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01585:Lbr	APN	1	181,653,208 (GRCm39)	nonsense	probably null
IGL01680:Lbr	APN	1	181,663,759 (GRCm39)	missense	probably damaging	1.00
IGL02738:Lbr	APN	1	181,659,778 (GRCm39)	missense	probably benign	0.16
IGL03048:Lbr	APN	1	181,666,109 (GRCm39)	utr 5 prime	probably benign
IGL03227:Lbr	APN	1	181,663,620 (GRCm39)	splice site	probably null
IGL03337:Lbr	APN	1	181,659,788 (GRCm39)	missense	possibly damaging	0.92
Aconcagua	UTSW	1	181,656,467 (GRCm39)	missense	probably benign	0.02
kosciuszko	UTSW	1	181,653,186 (GRCm39)	critical splice donor site	probably null
Mont_blanc	UTSW	1	181,648,267 (GRCm39)	missense	probably damaging	1.00
seven	UTSW	1	181,659,778 (GRCm39)	missense	probably benign	0.16
Strzelecki	UTSW	1	181,644,571 (GRCm39)	missense	possibly damaging	0.85
thredbo	UTSW	1	181,645,086 (GRCm39)	missense	probably damaging	1.00
1mM(1):Lbr	UTSW	1	181,659,244 (GRCm39)	missense	possibly damaging	0.65
H8562:Lbr	UTSW	1	181,648,233 (GRCm39)	splice site	probably benign
IGL02991:Lbr	UTSW	1	181,649,117 (GRCm39)	missense	probably damaging	1.00
R0597:Lbr	UTSW	1	181,659,778 (GRCm39)	missense	probably benign	0.16
R1118:Lbr	UTSW	1	181,648,233 (GRCm39)	splice site	probably benign
R1727:Lbr	UTSW	1	181,647,481 (GRCm39)	missense	probably benign	0.01
R2566:Lbr	UTSW	1	181,663,692 (GRCm39)	missense	probably damaging	0.96
R3699:Lbr	UTSW	1	181,646,485 (GRCm39)	missense	probably damaging	1.00
R3854:Lbr	UTSW	1	181,659,280 (GRCm39)	missense	probably benign	0.05
R4290:Lbr	UTSW	1	181,648,267 (GRCm39)	missense	probably damaging	1.00
R4292:Lbr	UTSW	1	181,648,267 (GRCm39)	missense	probably damaging	1.00
R4293:Lbr	UTSW	1	181,648,267 (GRCm39)	missense	probably damaging	1.00
R4294:Lbr	UTSW	1	181,648,267 (GRCm39)	missense	probably damaging	1.00
R4295:Lbr	UTSW	1	181,648,267 (GRCm39)	missense	probably damaging	1.00
R4771:Lbr	UTSW	1	181,665,986 (GRCm39)	missense	probably damaging	1.00
R4890:Lbr	UTSW	1	181,645,133 (GRCm39)	missense	probably benign	0.10
R5402:Lbr	UTSW	1	181,647,526 (GRCm39)	missense	probably benign	0.00
R5486:Lbr	UTSW	1	181,646,403 (GRCm39)	critical splice donor site	probably null
R5617:Lbr	UTSW	1	181,656,467 (GRCm39)	missense	probably benign	0.02
R5630:Lbr	UTSW	1	181,644,529 (GRCm39)	splice site	probably null
R6360:Lbr	UTSW	1	181,659,720 (GRCm39)	missense	probably benign	0.00
R6575:Lbr	UTSW	1	181,663,763 (GRCm39)	missense	probably damaging	1.00
R7069:Lbr	UTSW	1	181,656,354 (GRCm39)	missense	probably damaging	1.00
R7342:Lbr	UTSW	1	181,653,186 (GRCm39)	critical splice donor site	probably null
R7590:Lbr	UTSW	1	181,649,076 (GRCm39)	missense	probably damaging	1.00
R7686:Lbr	UTSW	1	181,645,086 (GRCm39)	missense	probably damaging	1.00
R8477:Lbr	UTSW	1	181,644,539 (GRCm39)	missense	possibly damaging	0.60
R8742:Lbr	UTSW	1	181,644,571 (GRCm39)	missense	possibly damaging	0.85
R8838:Lbr	UTSW	1	181,648,294 (GRCm39)	missense	possibly damaging	0.74
R8998:Lbr	UTSW	1	181,646,512 (GRCm39)	missense	probably damaging	1.00
R8999:Lbr	UTSW	1	181,646,512 (GRCm39)	missense	probably damaging	1.00
R9040:Lbr	UTSW	1	181,644,910 (GRCm39)	missense	probably damaging	1.00
R9059:Lbr	UTSW	1	181,645,119 (GRCm39)	missense
R9111:Lbr	UTSW	1	181,645,068 (GRCm39)	missense	possibly damaging	0.94
R9195:Lbr	UTSW	1	181,663,837 (GRCm39)	missense	probably benign	0.00
R9709:Lbr	UTSW	1	181,666,034 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTGACTTCATGGCCTCCAAG -3'
(R):5'- GCAGACAAGTGACACGTCAG -3'

Sequencing Primer
(F):5'- TCTTGTGCAGGTACAGAACAC -3'
(R):5'- CAAGTGACACGTCAGGGCTG -3'

Posted On

2016-06-06