Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01347:Lmna'

75080

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Lmna

Ensembl Gene

ENSMUSG00000028063

Gene Name

lamin A

Synonyms

lamin A/C, Dhe

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01347

Quality Score

Status

Chromosome

Chromosomal Location

88388455-88413842 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 88392270 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 374 (H374R)

Ref Sequence

ENSEMBL: ENSMUSP00000113093 (fasta)

Gene Model

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

AlphaFold

P48678

Predicted Effect

probably benign
Transcript: ENSMUST00000029699
AA Change: H374R

PolyPhen 2 Score 0.422 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000029699
Gene: ENSMUSG00000028063
AA Change: H374R

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
AA Change: H262R

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

SMART Domains

Protein: ENSMUSP00000040265
Gene: ENSMUSG00000028063
AA Change: H262R

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
AA Change: H374R

PolyPhen 2 Score 0.422 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000113093
Gene: ENSMUSG00000028063
AA Change: H374R

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135494

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147537

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150496

Coding Region Coverage

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aoc1l2	A	T	6: 48,909,477 (GRCm39)	Y574F	probably benign	Het
Apc	C	T	18: 34,450,723 (GRCm39)	P2506S	probably damaging	Het
Bdp1	T	A	13: 100,206,711 (GRCm39)	K610N	possibly damaging	Het
Bri3bp	T	G	5: 125,531,581 (GRCm39)	C176G	probably damaging	Het
Carnmt1	A	G	19: 18,668,818 (GRCm39)	I248V	probably benign	Het
Ccdc88b	A	G	19: 6,822,454 (GRCm39)	L1475P	probably damaging	Het
Cfap100	C	T	6: 90,383,103 (GRCm39)	V511M	possibly damaging	Het
Chchd3	T	C	6: 32,780,838 (GRCm39)	N78S	probably benign	Het
Cnnm4	G	A	1: 36,537,115 (GRCm39)	E480K	possibly damaging	Het
Cyp2d34	T	A	15: 82,500,978 (GRCm39)	I385F	possibly damaging	Het
D930048N14Rik	T	A	11: 51,545,615 (GRCm39)		probably benign	Het
Dgkg	A	T	16: 22,419,340 (GRCm39)	D53E	probably benign	Het
Dlx3	T	A	11: 95,011,359 (GRCm39)	L71H	probably damaging	Het
Egln2	A	C	7: 26,859,717 (GRCm39)	V332G	probably null	Het
Entpd2	A	G	2: 25,288,746 (GRCm39)	Q250R	probably benign	Het
Epyc	A	G	10: 97,510,593 (GRCm39)	D132G	probably damaging	Het
Fxr2	A	G	11: 69,543,114 (GRCm39)	D637G	probably benign	Het
Gapvd1	A	G	2: 34,596,708 (GRCm39)		probably null	Het
Gbp11	G	A	5: 105,479,194 (GRCm39)		probably benign	Het
Gm17175	A	T	14: 51,808,307 (GRCm39)	C162S	probably damaging	Het
Gm5499	C	T	17: 87,386,339 (GRCm39)		noncoding transcript	Het
Gps1	T	C	11: 120,679,086 (GRCm39)	V378A	probably benign	Het
Grik1	C	T	16: 87,754,481 (GRCm39)	R368Q	probably benign	Het
Gsap	A	G	5: 21,431,318 (GRCm39)	E214G	probably benign	Het
H2bc13	A	G	13: 21,900,064 (GRCm39)	Y84H	probably damaging	Het
Jdp2	T	C	12: 85,655,020 (GRCm39)	S28P	probably benign	Het
Kif26b	T	C	1: 178,698,240 (GRCm39)	F577S	probably damaging	Het
Kl	G	A	5: 150,904,130 (GRCm39)	G294D	probably damaging	Het
Lgsn	T	A	1: 31,243,041 (GRCm39)	D374E	probably damaging	Het
Lman1	T	C	18: 66,124,681 (GRCm39)	I353V	probably damaging	Het
Lrrc57	A	G	2: 120,439,286 (GRCm39)	S31P	probably benign	Het
Lum	T	A	10: 97,404,547 (GRCm39)	N147K	probably damaging	Het
Or6n2	T	C	1: 173,897,632 (GRCm39)	I256T	probably benign	Het
Or7a41	A	G	10: 78,871,445 (GRCm39)	T272A	probably benign	Het
P4ha3	C	A	7: 99,955,140 (GRCm39)	L332I	probably damaging	Het
Pelp1	A	G	11: 70,286,505 (GRCm39)	I541T	probably damaging	Het
Pja2	A	C	17: 64,620,023 (GRCm39)	S2A	probably benign	Het
Rhbdl3	T	C	11: 80,244,268 (GRCm39)	L325P	probably damaging	Het
Robo2	T	C	16: 74,149,744 (GRCm39)	D28G	probably damaging	Het
Rpa1	A	G	11: 75,198,111 (GRCm39)	Y470H	probably damaging	Het
Rtn3	T	C	19: 7,434,645 (GRCm39)	N430S	probably benign	Het
Scg2	T	A	1: 79,414,538 (GRCm39)	I62L	probably benign	Het
Scn5a	T	A	9: 119,391,507 (GRCm39)	K62*	probably null	Het
Sec23ip	T	C	7: 128,364,129 (GRCm39)	V469A	probably benign	Het
Shank1	A	G	7: 43,991,544 (GRCm39)	T663A	unknown	Het
Slco1a7	A	T	6: 141,700,192 (GRCm39)	Y113*	probably null	Het
Stab2	G	T	10: 86,737,567 (GRCm39)		probably null	Het
Tmcc3	T	C	10: 94,418,147 (GRCm39)	L305P	probably damaging	Het
Tmem145	A	G	7: 25,014,260 (GRCm39)	N458S	probably damaging	Het
Tpr	G	A	1: 150,302,738 (GRCm39)	R1412Q	probably damaging	Het
Wdr1	A	T	5: 38,703,058 (GRCm39)	F173I	possibly damaging	Het
Wdr17	C	T	8: 55,104,380 (GRCm39)	V898I	probably benign	Het
Wdr64	A	T	1: 175,547,899 (GRCm39)	L145F	probably benign	Het
Wnt10b	A	G	15: 98,674,826 (GRCm39)		probably benign	Het
Zfyve26	A	T	12: 79,298,957 (GRCm39)		probably null	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
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
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

Posted On

2013-10-07