Mutagenetix > Incidental Mutation

Incidental Mutation 'R9666:Lmna'

735693

Institutional Source

Beutler Lab

Gene Symbol

Lmna

Ensembl Gene

ENSMUSG00000028063

Gene Name

lamin A

Synonyms

Dhe, lamin A/C

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9666 (G1)

Quality Score

217.468

Status

Not validated

Chromosome

Chromosomal Location

88480147-88509956 bp(-) (GRCm38)

Type of Mutation

frame shift

DNA Base Change (assembly)

CAGCACGGTGCGTGAGC to CAGC at 88482550 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000029699 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029699] [ENSMUST00000036252] [ENSMUST00000120377]

AlphaFold

P48678

PDB Structure

Solution structure of immunoglobulin like domain of mouse nuclear lamin [SOLUTION NMR]

Predicted Effect

probably null
Transcript: ENSMUST00000029699

SMART Domains

Protein: ENSMUSP00000029699
Gene: ENSMUSG00000028063

Domain	Start	End	E-Value	Type
Filament	30	386	4.38e-45	SMART
low complexity region	395	414	N/A	INTRINSIC
low complexity region	422	431	N/A	INTRINSIC
Pfam:LTD	433	544	4e-15	PFAM
low complexity region	551	562	N/A	INTRINSIC
low complexity region	565	576	N/A	INTRINSIC
low complexity region	600	639	N/A	INTRINSIC
low complexity region	651	663	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000036252

SMART Domains

Protein: ENSMUSP00000040265
Gene: ENSMUSG00000028063

Domain	Start	End	E-Value	Type
Pfam:Filament	2	274	5.6e-66	PFAM
low complexity region	283	302	N/A	INTRINSIC
Pfam:LTD	317	436	1.2e-22	PFAM
low complexity region	439	450	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000120377

SMART Domains

Protein: ENSMUSP00000113093
Gene: ENSMUSG00000028063

Domain	Start	End	E-Value	Type
Pfam:Filament	30	386	1.3e-95	PFAM
low complexity region	395	414	N/A	INTRINSIC
Pfam:LTD	429	548	1.7e-22	PFAM
low complexity region	551	562	N/A	INTRINSIC

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 99.3%
20x: 98.4%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a protein that is a member of the lamin family. Nuclear lamins, intermediate filament-like proteins, are the major components of the nuclear lamina, a protein meshwork associated with the inner nuclear membrane. This meshwork is thought to maintain the integrity of the nuclear envelope, participate in chromatin organization, and regulate gene transcription. Vertebrate lamins consist of two types, A and B. This protein is an A-type and is proposed to be developmentally regulated. In mouse deficiency of this gene is associated with muscular dystrophy. Mouse lines with different mutations in this gene serve as pathophysiological models for several human laminopathies. In humans, mutations in this gene lead to several diseases: Emery-Dreifuss muscular dystrophy, familial partial lipodystrophy, limb girdle muscular dystrophy, dilated cardiomyopathy, Charcot-Marie-Tooth disease, and Hutchinson-Gilford progeria syndrome. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, May 2013]
PHENOTYPE: Homozygotes for targeted mutations exhibit retarded postnatal growth, muscular dystrophy, reduced fat stores, micrognathy, abnormal dentition, impaired gonadal development, malformed scapulae, hyperkeratosis, and die by 8 weeks of age. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb5	C	A	12: 118,874,687	V1047L	probably damaging	Het
AF529169	A	T	9: 89,602,019	S442T	probably benign	Het
Akap6	G	A	12: 53,141,535	A1911T	probably benign	Het
Ank2	T	A	3: 126,933,189	K819*	probably null	Het
Apc2	A	G	10: 80,311,349	R746G	possibly damaging	Het
Baz1a	A	G	12: 54,941,560	I268T	probably benign	Het
Bysl	A	G	17: 47,603,940	I206T	probably benign	Het
Ccdc70	A	C	8: 21,973,341	E49A	possibly damaging	Het
Chd1	A	T	17: 15,735,714	H525L	probably damaging	Het
Col4a4	T	C	1: 82,518,949	E442G	unknown	Het
Cpd	G	A	11: 76,802,307	P718S	probably benign	Het
Dip2b	T	A	15: 100,209,580	I1391N	probably damaging	Het
Dpp9	T	C	17: 56,194,946	T541A	probably damaging	Het
Dst	C	T	1: 34,179,866	Q1796*	probably null	Het
Gm10267	T	C	18: 44,158,330	I25V	probably benign	Het
Gm13083	A	G	4: 143,615,129	T43A	probably benign	Het
Gm32742	C	T	9: 51,150,141	R744Q	probably benign	Het
Gm37240	T	C	3: 84,515,645	Y139C	probably damaging	Het
Gm39115	A	G	7: 142,135,518	C173R	unknown	Het
Grm6	T	G	11: 50,860,050	V680G	probably damaging	Het
Grxcr2	C	T	18: 41,998,891	D38N	probably damaging	Het
Iah1	G	A	12: 21,316,586	R52H	probably damaging	Het
Ift43	A	G	12: 86,085,146	Y36C	possibly damaging	Het
Igf2r	T	C	17: 12,726,701	I334V	probably benign	Het
Igfn1	T	A	1: 135,969,954	Q958L	possibly damaging	Het
Il4i1	G	A	7: 44,839,839	A343T	possibly damaging	Het
Ints1	T	C	5: 139,762,462	I1128V	probably benign	Het
Irx1	C	A	13: 71,963,469	G7V	probably damaging	Het
Krr1	A	G	10: 111,982,991	R312G	possibly damaging	Het
Lpin2	A	T	17: 71,222,070	N108Y	probably damaging	Het
Man2a1	A	T	17: 64,636,562	E204V	possibly damaging	Het
Megf8	A	G	7: 25,330,741	T434A	possibly damaging	Het
Muc16	T	C	9: 18,655,989	T1745A	unknown	Het
Mycbp2	G	T	14: 103,134,038	P4135T	probably damaging	Het
Nuggc	T	C	14: 65,619,596	V398A	possibly damaging	Het
Olfr1131	C	T	2: 87,628,808	A115V	possibly damaging	Het
Olfr2	A	T	7: 107,000,892	S323T	probably benign	Het
Olfr308	A	G	7: 86,321,236	S239P	probably damaging	Het
Olfr381	A	G	11: 73,486,059	I255T	probably damaging	Het
Olfr389	A	T	11: 73,777,150	M59K	probably damaging	Het
Olfr49	G	T	14: 54,282,885	N3K	probably damaging	Het
Parg	A	G	14: 32,242,337	N653S	probably damaging	Het
Plek	A	G	11: 16,995,346	F18L	probably benign	Het
Pnoc	A	G	14: 65,401,798	I206T	possibly damaging	Het
Ppp4r3a	T	C	12: 101,082,870	M1V	probably null	Het
Psg22	T	C	7: 18,724,323	V313A	probably benign	Het
Ptk2b	G	T	14: 66,172,097	P497T	probably damaging	Het
Rer1	A	G	4: 155,075,587		probably null	Het
Rnf130	A	G	11: 50,095,791	T321A	probably benign	Het
Rnf207	A	T	4: 152,313,260	F346I	probably damaging	Het
Rraga	T	A	4: 86,576,337	I140N	possibly damaging	Het
Rusc2	A	T	4: 43,416,262	M523L	probably benign	Het
Sh3bp1	T	A	15: 78,908,422	V495D	probably benign	Het
Slc44a5	T	C	3: 154,240,289	L153P	probably benign	Het
Spag16	T	C	1: 70,724,913	S631P	probably damaging	Het
Syne1	A	C	10: 5,034,937	L747R	probably damaging	Het
Tac1	A	G	6: 7,555,675	E21G	probably benign	Het
Tekt2	C	T	4: 126,323,651	R207H	probably damaging	Het
Tln1	T	C	4: 43,542,957	D1344G	probably damaging	Het
Tnc	C	T	4: 64,007,808	E912K	probably damaging	Het
Trav16d-dv11	A	G	14: 53,047,580	T38A	probably benign	Het
Trbv15	T	A	6: 41,141,430	L40Q	probably damaging	Het
Trpa1	T	C	1: 14,903,231	I288V	possibly damaging	Het
Ttn	A	T	2: 76,774,597	I18331N	probably damaging	Het
Tubgcp2	A	T	7: 140,007,923	I263N	probably damaging	Het
Ugt8a	T	C	3: 125,915,308	H51R	probably benign	Het
Vmn2r2	T	C	3: 64,116,449	T904A	probably benign	Het
Zfp575	G	A	7: 24,585,898	T106M	probably damaging	Het
Zfp617	A	G	8: 71,932,695	T290A	probably benign	Het
Zfp809	T	C	9: 22,238,567	V120A	probably benign	Het

Other mutations in Lmna

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00468:Lmna	APN	3	88484684	missense	probably benign	0.05
IGL00933:Lmna	APN	3	88482549	missense	possibly damaging	0.73
IGL01347:Lmna	APN	3	88484963	missense	probably benign	0.42
IGL02881:Lmna	APN	3	88502926	missense	possibly damaging	0.56
P0029:Lmna	UTSW	3	88483917	missense	possibly damaging	0.88
R0606:Lmna	UTSW	3	88482578	missense	probably damaging	1.00
R1547:Lmna	UTSW	3	88482351	missense	probably benign	0.00
R4751:Lmna	UTSW	3	88486533	missense	possibly damaging	0.87
R5157:Lmna	UTSW	3	88484107	missense	probably damaging	1.00
R5857:Lmna	UTSW	3	88482531	unclassified	probably benign
R6112:Lmna	UTSW	3	88486621	nonsense	probably null
R6263:Lmna	UTSW	3	88502958	missense	probably damaging	1.00
R6328:Lmna	UTSW	3	88486506	missense	probably damaging	1.00
R6604:Lmna	UTSW	3	88488282	missense	probably damaging	0.97
R7100:Lmna	UTSW	3	88484990	missense	probably damaging	0.99
R8080:Lmna	UTSW	3	88486561	missense	probably damaging	0.99
R8841:Lmna	UTSW	3	88484613	critical splice donor site	probably null
R9347:Lmna	UTSW	3	88486241	missense	probably damaging	0.98
R9665:Lmna	UTSW	3	88482486	missense	probably benign	0.18
R9667:Lmna	UTSW	3	88482550	frame shift	probably null
R9694:Lmna	UTSW	3	88482550	frame shift	probably null
RF013:Lmna	UTSW	3	88484054	missense	probably benign	0.00
Z1177:Lmna	UTSW	3	88486236	missense	probably benign	0.17

Predicted Primers

PCR Primer
(F):5'- AGAGATGACTCACCTGGCTC -3'
(R):5'- ACAGACAGAGGTCACCTTCCTG -3'

Sequencing Primer
(F):5'- TTGCCCAGGAGGTAGGAGC -3'
(R):5'- AGGTCACCTTCCTGCCCAATG -3'

Posted On

2022-11-14