Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02139:Lmnb1'

281470

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Lmnb1

Ensembl Gene

ENSMUSG00000024590

Gene Name

lamin B1

Synonyms

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02139

Quality Score

Status

Chromosome

Chromosomal Location

56840885-56886496 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 56882871 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 572 (F572S)

Ref Sequence

ENSEMBL: ENSMUSP00000025486 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025486]

AlphaFold

P14733

Predicted Effect

probably benign
Transcript: ENSMUST00000025486
AA Change: F572S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000025486
Gene: ENSMUSG00000024590
AA Change: F572S

Domain	Start	End	E-Value	Type
Filament	32	388	2.59e-47	SMART
low complexity region	392	414	N/A	INTRINSIC
Pfam:LTD	436	546	2.3e-18	PFAM
low complexity region	551	570	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.] This gene encodes one of the two B-type lamin proteins and is a component of the nuclear lamina. A duplication of this gene is associated with autosomal dominant adult-onset leukodystrophy (ADLD). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]
PHENOTYPE: Homozygous null mice display neonatal lethality with respiratory distress, abnormal lung, craniofacial, and skeletal morphology, reduced embryo size, impaired cellular proliferation and differentiation, and abnormal nuclear morphology. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3100002H09Rik	G	A	4: 124,504,369 (GRCm39)	T61M	unknown	Het
Adam34l	T	A	8: 44,078,615 (GRCm39)	R536S	probably benign	Het
Ambn	T	C	5: 88,613,149 (GRCm39)	F217L	probably benign	Het
Cast	T	C	13: 74,876,484 (GRCm39)	D121G	possibly damaging	Het
Clmn	T	C	12: 104,747,358 (GRCm39)	I730V	probably benign	Het
Cryzl1	T	C	16: 91,509,139 (GRCm39)	K54R	possibly damaging	Het
Cyp3a16	A	G	5: 145,392,290 (GRCm39)	S222P	probably benign	Het
Dcstamp	T	C	15: 39,617,854 (GRCm39)	S88P	probably damaging	Het
F5	A	G	1: 164,020,243 (GRCm39)	D906G	possibly damaging	Het
Fam193a	A	G	5: 34,602,081 (GRCm39)	T428A	probably benign	Het
Fbxw16	T	G	9: 109,265,754 (GRCm39)	D355A	probably benign	Het
Focad	T	C	4: 88,047,291 (GRCm39)		probably null	Het
Ftsj3	G	A	11: 106,145,489 (GRCm39)	P82S	possibly damaging	Het
Grwd1	A	T	7: 45,476,667 (GRCm39)	H307Q	probably damaging	Het
Hip1r	T	C	5: 124,134,307 (GRCm39)	F289S	probably damaging	Het
Igkc	C	T	6: 70,703,559 (GRCm39)	R47*	probably null	Het
Lcn3	T	C	2: 25,656,646 (GRCm39)	F100S	possibly damaging	Het
Mrps17	T	A	5: 129,793,860 (GRCm39)	I18N	probably damaging	Het
Myo9a	G	A	9: 59,687,275 (GRCm39)	V127I	probably benign	Het
Or2l13b	T	C	16: 19,349,640 (GRCm39)	D10G	probably benign	Het
Or4c35	T	C	2: 89,808,773 (GRCm39)	V217A	possibly damaging	Het
Or5g23	T	A	2: 85,438,574 (GRCm39)	K227*	probably null	Het
Pcdhb21	A	G	18: 37,648,299 (GRCm39)	D476G	probably damaging	Het
Pkd2l2	T	A	18: 34,545,768 (GRCm39)	Y56*	probably null	Het
Pld1	C	A	3: 28,174,961 (GRCm39)	D86E	probably damaging	Het
Plpp1	A	G	13: 112,993,433 (GRCm39)	T122A	probably benign	Het
Prkag3	A	G	1: 74,779,883 (GRCm39)	I484T	probably benign	Het
Prl7d1	T	A	13: 27,896,066 (GRCm39)	I104F	probably damaging	Het
Prr14l	A	G	5: 32,984,876 (GRCm39)	S1540P	probably damaging	Het
Pyroxd1	T	G	6: 142,300,457 (GRCm39)	S196A	probably benign	Het
Rbm42	G	A	7: 30,345,130 (GRCm39)	P185S	unknown	Het
Ror2	T	A	13: 53,265,200 (GRCm39)	I619F	probably damaging	Het
Slitrk4	T	G	X: 63,314,555 (GRCm39)	E704A	probably benign	Het
Sycp1	A	G	3: 102,772,430 (GRCm39)	V626A	probably benign	Het
Trmt44	T	A	5: 35,726,143 (GRCm39)	K345*	probably null	Het
Ugt1a6b	T	A	1: 88,035,527 (GRCm39)		probably benign	Het
Ulk4	T	A	9: 120,970,897 (GRCm39)		probably null	Het
Zfp618	G	T	4: 63,051,773 (GRCm39)	K758N	probably damaging	Het
Zfp819	G	T	7: 43,261,534 (GRCm39)		probably null	Het

Other mutations in Lmnb1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01536:Lmnb1	APN	18	56,873,868 (GRCm39)	missense	probably benign	0.37
Katmai	UTSW	18	56,876,348 (GRCm39)	nonsense	probably null
R0446:Lmnb1	UTSW	18	56,876,331 (GRCm39)	missense	probably benign	0.02
R0696:Lmnb1	UTSW	18	56,873,793 (GRCm39)	missense	probably damaging	0.99
R1308:Lmnb1	UTSW	18	56,861,547 (GRCm39)	missense	probably benign	0.06
R1309:Lmnb1	UTSW	18	56,872,976 (GRCm39)	frame shift	probably null
R1544:Lmnb1	UTSW	18	56,882,823 (GRCm39)	missense	probably benign	0.08
R2680:Lmnb1	UTSW	18	56,864,177 (GRCm39)	missense	probably damaging	1.00
R3833:Lmnb1	UTSW	18	56,861,598 (GRCm39)	missense	probably benign	0.01
R3980:Lmnb1	UTSW	18	56,864,091 (GRCm39)	missense	probably damaging	1.00
R5820:Lmnb1	UTSW	18	56,873,858 (GRCm39)	missense	possibly damaging	0.70
R6025:Lmnb1	UTSW	18	56,862,456 (GRCm39)	nonsense	probably null
R6028:Lmnb1	UTSW	18	56,876,348 (GRCm39)	nonsense	probably null
R6346:Lmnb1	UTSW	18	56,876,310 (GRCm39)	missense	probably benign	0.24
R6736:Lmnb1	UTSW	18	56,861,541 (GRCm39)	missense	probably damaging	1.00
R8013:Lmnb1	UTSW	18	56,841,431 (GRCm39)	missense	probably damaging	1.00
R8944:Lmnb1	UTSW	18	56,876,331 (GRCm39)	missense	probably benign	0.02
R9453:Lmnb1	UTSW	18	56,873,114 (GRCm39)	critical splice donor site	probably null
RF004:Lmnb1	UTSW	18	56,864,046 (GRCm39)	missense	possibly damaging	0.94

Posted On

2015-04-16