Mutagenetix > Incidental Mutation

Incidental Mutation 'R9694:Lmna'

735934

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 #

R9694 (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: 99.8%
3x: 99.7%
10x: 99.3%
20x: 98.7%

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1b	T	A	5: 8,899,573 (GRCm39)	Y948N	probably damaging	Het
Adamts2	A	G	11: 50,558,972 (GRCm39)	D229G	probably benign	Het
Adamts4	T	C	1: 171,081,530 (GRCm39)	S395P	probably benign	Het
Adcy1	T	C	11: 7,094,774 (GRCm39)	Y567H	probably damaging	Het
Agap3	A	G	5: 24,682,139 (GRCm39)	N212D	probably benign	Het
Atp2a2	A	G	5: 122,597,708 (GRCm39)	F775S	probably damaging	Het
Baz1b	A	T	5: 135,273,094 (GRCm39)	Q1406L	probably benign	Het
C030006K11Rik	A	T	15: 76,607,928 (GRCm39)	V30D	possibly damaging	Het
Cep170b	T	A	12: 112,701,993 (GRCm39)	V262E	probably damaging	Het
Cgnl1	C	T	9: 71,632,803 (GRCm39)	G183R	probably benign	Het
Chd8	A	G	14: 52,441,341 (GRCm39)	I2257T	possibly damaging	Het
Chrna7	A	G	7: 62,754,809 (GRCm39)	I266T	probably damaging	Het
Cyp3a25	A	T	5: 145,923,685 (GRCm39)	Y319*	probably null	Het
Dcdc2a	A	T	13: 25,286,340 (GRCm39)	I125F	probably benign	Het
Dcdc2c	A	T	12: 28,585,553 (GRCm39)	I80N		Het
Dmtn	T	C	14: 70,852,732 (GRCm39)		probably null	Het
Dock2	T	C	11: 34,218,054 (GRCm39)	N1172S	probably benign	Het
Dock9	A	G	14: 121,818,791 (GRCm39)	S1564P	probably damaging	Het
Ecel1	T	C	1: 87,080,853 (GRCm39)	I350V	possibly damaging	Het
Eif4enif1	C	T	11: 3,170,384 (GRCm39)	L146F	probably damaging	Het
Ergic1	T	G	17: 26,843,585 (GRCm39)	D59E	probably benign	Het
F2rl2	A	T	13: 95,838,050 (GRCm39)	D365V	possibly damaging	Het
Fbxl16	C	T	17: 26,036,813 (GRCm39)	Q265*	probably null	Het
Fbxw26	T	C	9: 109,575,135 (GRCm39)		probably benign	Het
Fras1	A	T	5: 96,929,545 (GRCm39)	Y3983F	probably benign	Het
G6pd2	T	A	5: 61,966,460 (GRCm39)	D78E	probably benign	Het
Gas2l2	A	C	11: 83,314,170 (GRCm39)	S381A	possibly damaging	Het
Gm57858	A	G	3: 36,073,092 (GRCm39)	S397P	possibly damaging	Het
Grk2	G	A	19: 4,338,511 (GRCm39)	R474C	probably damaging	Het
Gxylt2	T	A	6: 100,710,174 (GRCm39)	V105E	probably benign	Het
Hexd	T	C	11: 121,107,813 (GRCm39)	V181A	probably damaging	Het
Ift70a2	T	C	2: 75,807,691 (GRCm39)	T274A	probably benign	Het
Ik	T	A	18: 36,877,840 (GRCm39)	D5E	probably benign	Het
Ilkap	A	G	1: 91,303,973 (GRCm39)	C163R		Het
Itpr3	C	T	17: 27,334,927 (GRCm39)	T2147I	probably damaging	Het
Kif1a	A	T	1: 92,950,173 (GRCm39)	V1418E	probably benign	Het
Kif26b	T	C	1: 178,743,815 (GRCm39)	C1304R	probably benign	Het
Lvrn	A	T	18: 47,033,609 (GRCm39)	D940V	probably damaging	Het
Mill1	G	A	7: 17,997,027 (GRCm39)	R206H	probably benign	Het
Mrgpra1	A	T	7: 46,985,268 (GRCm39)	L137Q	probably damaging	Het
Npc2	C	A	12: 84,807,638 (GRCm39)	L73F	probably benign	Het
Or11g26	A	G	14: 50,752,669 (GRCm39)	T3A	probably benign	Het
Or52i2	A	T	7: 102,320,011 (GRCm39)	I295F	possibly damaging	Het
Or5al1	T	C	2: 85,990,681 (GRCm39)	E11G	probably benign	Het
Or5b97	A	T	19: 12,879,021 (GRCm39)	V41E	probably damaging	Het
Or5j3	T	C	2: 86,128,718 (GRCm39)	I186T	probably benign	Het
Osbpl1a	T	C	18: 12,952,565 (GRCm39)	H533R	probably benign	Het
Pax7	G	A	4: 139,556,819 (GRCm39)	T147M	probably benign	Het
Pdik1l	A	T	4: 134,006,711 (GRCm39)	S143T	unknown	Het
Prkg1	T	G	19: 30,764,371 (GRCm39)	T255P	possibly damaging	Het
Prmt2	A	T	10: 76,061,213 (GRCm39)	I91N	probably damaging	Het
Ptprm	A	G	17: 67,116,484 (GRCm39)	Y932H	probably damaging	Het
Ptprz1	A	T	6: 22,959,694 (GRCm39)	I64F	probably damaging	Het
Qrich2	T	C	11: 116,337,946 (GRCm39)	K154R	probably damaging	Het
Rab8b	T	C	9: 66,826,824 (GRCm39)	D31G	probably benign	Het
Radil	A	G	5: 142,473,378 (GRCm39)	S768P	probably damaging	Het
Rbm5	A	T	9: 107,622,152 (GRCm39)	D607E	probably benign	Het
Reep6	T	A	10: 80,169,393 (GRCm39)	V131E	probably damaging	Het
Rrbp1	T	A	2: 143,832,099 (GRCm39)	I23F	probably damaging	Het
Rubcn	A	T	16: 32,663,481 (GRCm39)	V385D	probably benign	Het
Sall2	C	T	14: 52,552,124 (GRCm39)	G357D	possibly damaging	Het
Slc12a6	T	A	2: 112,174,881 (GRCm39)	L547H	probably damaging	Het
Slc16a6	T	C	11: 109,354,322 (GRCm39)	T100A	probably benign	Het
Sptbn2	T	C	19: 4,800,535 (GRCm39)	L2250P	probably damaging	Het
Stab1	C	T	14: 30,876,901 (GRCm39)	A808T	probably benign	Het
Stag1	A	G	9: 100,810,151 (GRCm39)	T785A	probably benign	Het
Stambpl1	T	G	19: 34,211,535 (GRCm39)	S199A	probably benign	Het
Styxl2	A	T	1: 165,928,654 (GRCm39)	S319R	probably damaging	Het
Supt20	C	T	3: 54,623,015 (GRCm39)	S496L	probably benign	Het
Tanc1	T	C	2: 59,626,196 (GRCm39)	F518L	probably damaging	Het
Tdpoz3	T	A	3: 93,734,156 (GRCm39)	V277D	probably benign	Het
Unc45a	A	C	7: 79,975,403 (GRCm39)	Y934D	probably damaging	Het
Vmn1r192	G	A	13: 22,372,119 (GRCm39)	P34S	probably benign	Het
Wipf3	T	C	6: 54,466,004 (GRCm39)	S421P	possibly damaging	Het
Zfp296	A	G	7: 19,314,227 (GRCm39)	K361E	possibly damaging	Het
Zfp882	T	A	8: 72,667,915 (GRCm39)	N247K	probably benign	Het
Zfpm2	A	G	15: 40,965,710 (GRCm39)	T732A	possibly damaging	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
R9666:Lmna	UTSW	3	88,389,857 (GRCm39)	frame shift	probably null
R9667: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'- AGACAGAGGTCACCTTCCTG -3'

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

Posted On

2022-11-14