Mutagenetix > Incidental Mutation

Incidental Mutation 'RF004:Lmnb1'

602722

Institutional Source

Beutler Lab

Gene Symbol

Lmnb1

Ensembl Gene

ENSMUSG00000024590

Gene Name

lamin B1

Synonyms

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

RF004 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

56840885-56886496 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 56864046 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 217 (I217T)

Ref Sequence

ENSEMBL: ENSMUSP00000025486 (fasta)

Gene Model

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

AlphaFold

P14733

Predicted Effect

possibly damaging
Transcript: ENSMUST00000025486
AA Change: I217T

PolyPhen 2 Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000025486
Gene: ENSMUSG00000024590
AA Change: I217T

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

1x: 99.8%
3x: 99.6%
10x: 99.1%
20x: 97.6%

Validation Efficiency

100% (34/34)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110059E24Rik	T	A	19: 21,575,645 (GRCm39)	H126L	probably benign	Het
4930407I10Rik	A	T	15: 81,943,550 (GRCm39)	Q54L	possibly damaging	Het
4930433I11Rik	AACC	A	7: 40,642,479 (GRCm39)		probably benign	Het
Adora2a	A	T	10: 75,168,988 (GRCm39)	T151S	probably benign	Het
Ankhd1	GCGGCG	GCGGCGTCGGCG	18: 36,693,963 (GRCm39)		probably benign	Het
Ankrd36	A	G	11: 5,612,411 (GRCm39)	K1248E	possibly damaging	Het
Anks1b	G	A	10: 89,869,087 (GRCm39)	G49D	probably damaging	Het
Arl11	T	C	14: 61,548,304 (GRCm39)	V38A	probably damaging	Het
Atp2c2	A	T	8: 120,479,561 (GRCm39)	N726Y	probably damaging	Het
Bcat1	T	C	6: 144,953,349 (GRCm39)	K413R	probably benign	Het
Cd244a	C	G	1: 171,405,490 (GRCm39)	Q292E	probably benign	Het
Chp1	T	A	2: 119,411,195 (GRCm39)	D123E	probably damaging	Het
Cpeb4	ACTCT	ACTCTCT	11: 31,877,634 (GRCm39)		probably benign	Het
Ddx6	A	G	9: 44,535,789 (GRCm39)	T173A	possibly damaging	Het
Dlg2	T	A	7: 90,501,885 (GRCm39)	C66S	probably benign	Het
Dnah2	T	A	11: 69,328,013 (GRCm39)	Q3370L	probably benign	Het
Dnmt1	GCACAGTTCCTACCTCGTT	GCACAGTTCCTACCTCGTTTTGGGGGCGGAACACAGTTCCTACCTCGTT	9: 20,821,423 (GRCm39)		probably null	Het
Dop1a	T	C	9: 86,436,244 (GRCm39)	V2420A	probably benign	Het
Gm8369	GTGTGT	GTGTGTATGTGT	19: 11,489,118 (GRCm39)		probably benign	Het
Igkv6-25	TTGACGGA	T	6: 70,192,647 (GRCm39)		probably null	Het
Iqgap1	G	A	7: 80,370,623 (GRCm39)	A1582V	probably benign	Het
Mamld1	CAG	CAGTAG	X: 70,162,437 (GRCm39)		probably null	Het
Map2k2	A	T	10: 80,951,002 (GRCm39)	H149L	probably benign	Het
Med12l	CAG	CAGAAG	3: 59,183,390 (GRCm39)		probably benign	Het
Mmp1a	TG	TGG	9: 7,465,083 (GRCm38)		probably null	Het
Nxph2	G	A	2: 23,290,080 (GRCm39)	R144Q	probably damaging	Het
Or2t48	CA	C	11: 58,419,983 (GRCm39)		probably null	Het
Or51f1e	T	TTAG	7: 102,747,516 (GRCm39)		probably null	Het
Or51f1e	GTTAT	GTTATTAT	7: 102,747,512 (GRCm39)			Het
Or51f1e	AT	ATTCT	7: 102,747,515 (GRCm39)		probably benign	Het
Or51q1	TCC	TCCC	7: 103,629,110 (GRCm39)		probably null	Het
Or52n20	A	G	7: 104,320,248 (GRCm39)	E113G	probably damaging	Het
Or8d2	T	C	9: 38,760,114 (GRCm39)	F235L	probably benign	Het
Padi4	A	T	4: 140,487,269 (GRCm39)	V211E	probably damaging	Het
Prdm10	A	C	9: 31,270,422 (GRCm39)	D902A	probably damaging	Het
Prps1l1	A	G	12: 35,035,398 (GRCm39)	D171G	probably damaging	Het
Rasal3	A	T	17: 32,610,081 (GRCm39)	N1035K	probably damaging	Het
Rassf6	GGTCCTGTAGAGCAATGGGGATTC	GGTCCTGTAGAGCAATGGGGATTCTGCATCACTCATTGTCCTGTAGAGCAATGGGGATTC	5: 90,756,778 (GRCm39)		probably benign	Het
Rbm26	A	G	14: 105,388,931 (GRCm39)	V320A	probably damaging	Het
S1pr1	A	T	3: 115,506,536 (GRCm39)	Y19*	probably null	Het
Slc22a16	A	C	10: 40,479,642 (GRCm39)	L571F	possibly damaging	Het
Smarca2	CAGC	CAGCCCAAGC	19: 26,608,420 (GRCm39)		probably benign	Het
Ssx2ip	A	T	3: 146,132,195 (GRCm39)	K219*	probably null	Het
Trav15-2-dv6-2	AAG	AAGCAG	14: 53,887,212 (GRCm39)		probably benign	Het
Trav15-2-dv6-2	GGGAG	GGGAGGAG	14: 53,887,207 (GRCm39)		probably benign	Het
Trav15-2-dv6-2	GAA	GAATAA	14: 53,887,211 (GRCm39)		probably null	Het
Tsen15	A	G	1: 152,259,470 (GRCm39)	V63A	probably damaging	Het
Ttc21a	A	G	9: 119,795,838 (GRCm39)	Y1224C	probably damaging	Het
Usp54	T	A	14: 20,611,368 (GRCm39)	E1149D	possibly damaging	Het
Vmn2r37	A	T	7: 9,220,686 (GRCm39)	S392R	probably damaging	Het
Wdr97	GAGGAGGA	G	15: 76,247,373 (GRCm39)		probably null	Het
Zfp663	G	T	2: 165,200,363 (GRCm39)	H72Q	probably benign	Het
Zfp683	TGTGG	TGTGGTGG	4: 133,786,185 (GRCm39)		probably benign	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
IGL02139:Lmnb1	APN	18	56,882,871 (GRCm39)	missense	probably benign	0.00
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

Predicted Primers

PCR Primer
(F):5'- ACCGCCATCATGTCGTTAG -3'
(R):5'- CAGCTCTGAGTGTGAGTGAG -3'

Sequencing Primer
(F):5'- ATGTCGTTAGTCACACTCCAGAC -3'
(R):5'- AGTGAGGTGCTGACTGCG -3'

Posted On

2019-12-04