Mutagenetix > Incidental Mutation

Incidental Mutation 'R9666:Lmna'

735693

Institutional Source

Beutler Lab

Gene Symbol

Lmna

Ensembl Gene

ENSMUSG00000028063

Gene Name

lamin A

Synonyms

lamin A/C, Dhe

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

88388455-88413842 bp(-) (GRCm39)

Type of Mutation

frame shift

DNA Base Change (assembly)

CAGCACGGTGCGTGAGC to CAGC at 88389857 bp (GRCm39)

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: 118,838,422 (GRCm39)	V1047L	probably damaging	Het
Akap6	G	A	12: 53,188,318 (GRCm39)	A1911T	probably benign	Het
Ank2	T	A	3: 126,726,838 (GRCm39)	K819*	probably null	Het
Apc2	A	G	10: 80,147,183 (GRCm39)	R746G	possibly damaging	Het
Baz1a	A	G	12: 54,988,345 (GRCm39)	I268T	probably benign	Het
Bysl	A	G	17: 47,914,865 (GRCm39)	I206T	probably benign	Het
Ccdc70	A	C	8: 22,463,357 (GRCm39)	E49A	possibly damaging	Het
Chd1	A	T	17: 15,955,976 (GRCm39)	H525L	probably damaging	Het
Col4a4	T	C	1: 82,496,670 (GRCm39)	E442G	unknown	Het
Cpd	G	A	11: 76,693,133 (GRCm39)	P718S	probably benign	Het
Dip2b	T	A	15: 100,107,461 (GRCm39)	I1391N	probably damaging	Het
Dpp9	T	C	17: 56,501,946 (GRCm39)	T541A	probably damaging	Het
Dst	C	T	1: 34,218,947 (GRCm39)	Q1796*	probably null	Het
Gm10267	T	C	18: 44,291,397 (GRCm39)	I25V	probably benign	Het
Gm32742	C	T	9: 51,061,441 (GRCm39)	R744Q	probably benign	Het
Gm37240	T	C	3: 84,422,952 (GRCm39)	Y139C	probably damaging	Het
Gm39115	A	G	7: 141,689,255 (GRCm39)	C173R	unknown	Het
Grm6	T	G	11: 50,750,877 (GRCm39)	V680G	probably damaging	Het
Grxcr2	C	T	18: 42,131,956 (GRCm39)	D38N	probably damaging	Het
Iah1	G	A	12: 21,366,587 (GRCm39)	R52H	probably damaging	Het
Ift43	A	G	12: 86,131,920 (GRCm39)	Y36C	possibly damaging	Het
Igf2r	T	C	17: 12,945,588 (GRCm39)	I334V	probably benign	Het
Igfn1	T	A	1: 135,897,692 (GRCm39)	Q958L	possibly damaging	Het
Il4i1	G	A	7: 44,489,263 (GRCm39)	A343T	possibly damaging	Het
Ints1	T	C	5: 139,748,217 (GRCm39)	I1128V	probably benign	Het
Irx1	C	A	13: 72,111,588 (GRCm39)	G7V	probably damaging	Het
Krr1	A	G	10: 111,818,896 (GRCm39)	R312G	possibly damaging	Het
Lpin2	A	T	17: 71,529,065 (GRCm39)	N108Y	probably damaging	Het
Man2a1	A	T	17: 64,943,557 (GRCm39)	E204V	possibly damaging	Het
Megf8	A	G	7: 25,030,166 (GRCm39)	T434A	possibly damaging	Het
Minar1	A	T	9: 89,484,072 (GRCm39)	S442T	probably benign	Het
Muc16	T	C	9: 18,567,285 (GRCm39)	T1745A	unknown	Het
Mycbp2	G	T	14: 103,371,474 (GRCm39)	P4135T	probably damaging	Het
Nuggc	T	C	14: 65,857,045 (GRCm39)	V398A	possibly damaging	Het
Or1e22	A	G	11: 73,376,885 (GRCm39)	I255T	probably damaging	Het
Or1e29	A	T	11: 73,667,976 (GRCm39)	M59K	probably damaging	Het
Or5w11	C	T	2: 87,459,152 (GRCm39)	A115V	possibly damaging	Het
Or6a2	A	T	7: 106,600,099 (GRCm39)	S323T	probably benign	Het
Or6e1	G	T	14: 54,520,342 (GRCm39)	N3K	probably damaging	Het
Or6f1	A	G	7: 85,970,444 (GRCm39)	S239P	probably damaging	Het
Parg	A	G	14: 31,964,294 (GRCm39)	N653S	probably damaging	Het
Plek	A	G	11: 16,945,346 (GRCm39)	F18L	probably benign	Het
Pnoc	A	G	14: 65,639,247 (GRCm39)	I206T	possibly damaging	Het
Ppp4r3a	T	C	12: 101,049,129 (GRCm39)	M1V	probably null	Het
Pramel21	A	G	4: 143,341,699 (GRCm39)	T43A	probably benign	Het
Psg22	T	C	7: 18,458,248 (GRCm39)	V313A	probably benign	Het
Ptk2b	G	T	14: 66,409,546 (GRCm39)	P497T	probably damaging	Het
Rer1	A	G	4: 155,160,044 (GRCm39)		probably null	Het
Rnf130	A	G	11: 49,986,618 (GRCm39)	T321A	probably benign	Het
Rnf207	A	T	4: 152,397,717 (GRCm39)	F346I	probably damaging	Het
Rraga	T	A	4: 86,494,574 (GRCm39)	I140N	possibly damaging	Het
Rusc2	A	T	4: 43,416,262 (GRCm39)	M523L	probably benign	Het
Sh3bp1	T	A	15: 78,792,622 (GRCm39)	V495D	probably benign	Het
Slc44a5	T	C	3: 153,945,926 (GRCm39)	L153P	probably benign	Het
Spag16	T	C	1: 70,764,072 (GRCm39)	S631P	probably damaging	Het
Syne1	A	C	10: 4,984,937 (GRCm39)	L747R	probably damaging	Het
Tac1	A	G	6: 7,555,675 (GRCm39)	E21G	probably benign	Het
Tekt2	C	T	4: 126,217,444 (GRCm39)	R207H	probably damaging	Het
Tln1	T	C	4: 43,542,957 (GRCm39)	D1344G	probably damaging	Het
Tnc	C	T	4: 63,926,045 (GRCm39)	E912K	probably damaging	Het
Trav16d-dv11	A	G	14: 53,285,037 (GRCm39)	T38A	probably benign	Het
Trbv15	T	A	6: 41,118,364 (GRCm39)	L40Q	probably damaging	Het
Trpa1	T	C	1: 14,973,455 (GRCm39)	I288V	possibly damaging	Het
Ttn	A	T	2: 76,604,941 (GRCm39)	I18331N	probably damaging	Het
Tubgcp2	A	T	7: 139,587,836 (GRCm39)	I263N	probably damaging	Het
Ugt8a	T	C	3: 125,708,957 (GRCm39)	H51R	probably benign	Het
Vmn2r2	T	C	3: 64,023,870 (GRCm39)	T904A	probably benign	Het
Zfp575	G	A	7: 24,285,323 (GRCm39)	T106M	probably damaging	Het
Zfp617	A	G	8: 72,686,539 (GRCm39)	T290A	probably benign	Het
Zfp809	T	C	9: 22,149,863 (GRCm39)	V120A	probably benign	Het

Other mutations in Lmna

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00468:Lmna	APN	3	88,391,991 (GRCm39)	missense	probably benign	0.05
IGL00933:Lmna	APN	3	88,389,856 (GRCm39)	missense	possibly damaging	0.73
IGL01347:Lmna	APN	3	88,392,270 (GRCm39)	missense	probably benign	0.42
IGL02881:Lmna	APN	3	88,410,233 (GRCm39)	missense	possibly damaging	0.56
P0029:Lmna	UTSW	3	88,391,224 (GRCm39)	missense	possibly damaging	0.88
R0606:Lmna	UTSW	3	88,389,885 (GRCm39)	missense	probably damaging	1.00
R1547:Lmna	UTSW	3	88,389,658 (GRCm39)	missense	probably benign	0.00
R4751:Lmna	UTSW	3	88,393,840 (GRCm39)	missense	possibly damaging	0.87
R5157:Lmna	UTSW	3	88,391,414 (GRCm39)	missense	probably damaging	1.00
R5857:Lmna	UTSW	3	88,389,838 (GRCm39)	unclassified	probably benign
R6112:Lmna	UTSW	3	88,393,928 (GRCm39)	nonsense	probably null
R6263:Lmna	UTSW	3	88,410,265 (GRCm39)	missense	probably damaging	1.00
R6328:Lmna	UTSW	3	88,393,813 (GRCm39)	missense	probably damaging	1.00
R6604:Lmna	UTSW	3	88,395,589 (GRCm39)	missense	probably damaging	0.97
R7100:Lmna	UTSW	3	88,392,297 (GRCm39)	missense	probably damaging	0.99
R8080:Lmna	UTSW	3	88,393,868 (GRCm39)	missense	probably damaging	0.99
R8841:Lmna	UTSW	3	88,391,920 (GRCm39)	critical splice donor site	probably null
R9347:Lmna	UTSW	3	88,393,548 (GRCm39)	missense	probably damaging	0.98
R9665:Lmna	UTSW	3	88,389,793 (GRCm39)	missense	probably benign	0.18
R9667:Lmna	UTSW	3	88,389,857 (GRCm39)	frame shift	probably null
R9694:Lmna	UTSW	3	88,389,857 (GRCm39)	frame shift	probably null
RF013:Lmna	UTSW	3	88,391,361 (GRCm39)	missense	probably benign	0.00
Z1177:Lmna	UTSW	3	88,393,543 (GRCm39)	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