Mutagenetix > Incidental Mutation

Incidental Mutation 'R0591:Lrsam1'

55956

Institutional Source

Beutler Lab

Gene Symbol

Lrsam1

Ensembl Gene

ENSMUSG00000026792

Gene Name

leucine rich repeat and sterile alpha motif containing 1

Synonyms

MMRRC Submission

038781-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.070) question?

Stock #

R0591 (G1)

Quality Score

189

Status

Validated

Chromosome

Chromosomal Location

32815228-32851626 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 32823935 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028132] [ENSMUST00000113200]

AlphaFold

Q80ZI6

Predicted Effect

probably benign
Transcript: ENSMUST00000028132

SMART Domains

Protein: ENSMUSP00000028132
Gene: ENSMUSG00000026792

Domain	Start	End	E-Value	Type
LRR	80	102	1.26e1	SMART
LRR	103	125	9.3e-1	SMART
LRR	126	148	1.91e1	SMART
LRR	149	171	7.05e-1	SMART
Blast:IlGF	191	321	1e-71	BLAST
low complexity region	322	333	N/A	INTRINSIC
low complexity region	474	493	N/A	INTRINSIC
coiled coil region	500	547	N/A	INTRINSIC
SAM	566	632	2.42e-2	SMART
RING	679	713	3.51e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000113200

SMART Domains

Protein: ENSMUSP00000108825
Gene: ENSMUSG00000026792

Domain	Start	End	E-Value	Type
LRR	80	102	1.26e1	SMART
LRR	103	125	9.3e-1	SMART
LRR	126	148	1.91e1	SMART
LRR	149	171	7.05e-1	SMART
Blast:IlGF	191	321	1e-71	BLAST
low complexity region	322	333	N/A	INTRINSIC
low complexity region	474	493	N/A	INTRINSIC
coiled coil region	500	547	N/A	INTRINSIC
SAM	566	632	2.42e-2	SMART
RING	679	713	3.51e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000195713

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000195776

Coding Region Coverage

1x: 99.7%
3x: 99.2%
10x: 97.7%
20x: 95.3%

Validation Efficiency

100% (62/62)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a ring finger protein involved in a variety of functions, including regulation of signaling pathways and cell adhesion, mediation of self-ubiquitylation, and involvement in cargo sorting during receptor endocytosis. Mutations in this gene have been associated with Charcot-Marie-Tooth disease. Multiple transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jan 2012]
PHENOTYPE: Mutant mice either heterozygous or homozygous for a gene trapped allele exhibit mild neuromuscular junction and axonal defects in the absence of a neuronal challenge, but show increased sensitivity to acrylamide-induced motor axon degeneration relative to control mice. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	G	T	3: 137,774,704 (GRCm39)	E1298*	probably null	Het
Aadacl2fm2	C	A	3: 59,659,550 (GRCm39)	Y334*	probably null	Het
Adam19	T	C	11: 46,012,238 (GRCm39)		probably benign	Het
Agt	A	T	8: 125,283,678 (GRCm39)	S480R	possibly damaging	Het
Anapc1	G	T	2: 128,461,252 (GRCm39)	D1769E	probably benign	Het
Aox4	T	C	1: 58,278,261 (GRCm39)		probably benign	Het
Apol9b	G	A	15: 77,619,830 (GRCm39)	V209I	possibly damaging	Het
Appl2	A	T	10: 83,460,509 (GRCm39)	I116K	possibly damaging	Het
BC051665	A	G	13: 60,932,422 (GRCm39)		probably benign	Het
Cactin	G	T	10: 81,159,837 (GRCm39)	E89*	probably null	Het
Carf	G	T	1: 60,165,073 (GRCm39)		probably benign	Het
Ccdc167	A	G	17: 29,924,235 (GRCm39)		probably benign	Het
Ceacam3	G	A	7: 16,885,808 (GRCm39)		probably null	Het
Clca4b	T	A	3: 144,621,353 (GRCm39)	K574*	probably null	Het
Crabp1	T	A	9: 54,672,887 (GRCm39)	I64N	probably damaging	Het
Dgkd	T	A	1: 87,842,826 (GRCm39)	I118N	probably damaging	Het
Dglucy	T	C	12: 100,825,777 (GRCm39)		probably benign	Het
Dock10	C	T	1: 80,518,936 (GRCm39)		probably benign	Het
Ednrb	A	T	14: 104,060,710 (GRCm39)		probably null	Het
Ercc6	T	C	14: 32,279,973 (GRCm39)		probably benign	Het
Golga3	A	C	5: 110,336,609 (GRCm39)	Q416P	probably damaging	Het
Gpr12	A	G	5: 146,520,445 (GRCm39)	V159A	probably benign	Het
Heatr5a	A	T	12: 51,956,884 (GRCm39)		probably benign	Het
Helz2	A	G	2: 180,873,909 (GRCm39)	I2195T	probably damaging	Het
Hikeshi	A	T	7: 89,569,295 (GRCm39)	N76K	possibly damaging	Het
Hsd11b1	T	C	1: 192,911,984 (GRCm39)		probably benign	Het
Iftap	A	T	2: 101,406,462 (GRCm39)	D155E	probably benign	Het
Inhba	A	T	13: 16,201,405 (GRCm39)	K322N	probably damaging	Het
Katnal1	A	T	5: 148,829,326 (GRCm39)	F291L	probably damaging	Het
Kcnj9	T	C	1: 172,150,665 (GRCm39)	E316G	probably damaging	Het
Mcf2l	T	G	8: 13,068,751 (GRCm39)	S1075A	probably benign	Het
Mios	T	C	6: 8,215,470 (GRCm39)	V222A	possibly damaging	Het
Mycbp2	A	T	14: 103,433,827 (GRCm39)		probably benign	Het
Nars1	A	T	18: 64,633,638 (GRCm39)	I544N	probably damaging	Het
Or5ak23	A	G	2: 85,245,034 (GRCm39)	L63P	possibly damaging	Het
Pbrm1	A	G	14: 30,768,387 (GRCm39)		probably benign	Het
Plcb4	A	G	2: 135,796,932 (GRCm39)		probably benign	Het
Pnliprp1	A	G	19: 58,723,138 (GRCm39)	D213G	probably damaging	Het
Psap	A	G	10: 60,136,634 (GRCm39)	N538D	possibly damaging	Het
Ptdss1	A	G	13: 67,120,714 (GRCm39)		probably benign	Het
Rap1b	G	A	10: 117,654,522 (GRCm39)		probably benign	Het
Rhcg	T	A	7: 79,244,520 (GRCm39)		probably benign	Het
Ryr1	G	A	7: 28,804,220 (GRCm39)	T550I	possibly damaging	Het
Samm50	G	A	15: 84,095,369 (GRCm39)	G452R	probably benign	Het
Scin	A	G	12: 40,130,929 (GRCm39)		probably null	Het
Sesn3	T	C	9: 14,219,854 (GRCm39)	L81S	probably damaging	Het
Skint6	A	C	4: 112,715,366 (GRCm39)		probably benign	Het
Slc30a4	A	T	2: 122,527,160 (GRCm39)	L411H	probably damaging	Het
Slc44a5	C	T	3: 153,939,782 (GRCm39)		probably benign	Het
Slc4a3	C	T	1: 75,525,665 (GRCm39)	A255V	probably damaging	Het
Slc9b1	A	G	3: 135,088,593 (GRCm39)	N318S	possibly damaging	Het
Tcp11l2	A	T	10: 84,440,458 (GRCm39)	H287L	probably benign	Het
Tex10	C	T	4: 48,456,800 (GRCm39)	R637Q	probably benign	Het
Tnks2	T	A	19: 36,849,962 (GRCm39)	Y605N	probably damaging	Het
Topbp1	T	A	9: 103,227,037 (GRCm39)	N1490K	probably benign	Het
Ube4b	T	G	4: 149,442,034 (GRCm39)		probably benign	Het
Usp4	G	A	9: 108,225,228 (GRCm39)		probably benign	Het
Vezf1	A	T	11: 88,068,435 (GRCm38)		probably benign	Het
Vmn1r184	A	T	7: 25,966,500 (GRCm39)	D82V	probably damaging	Het

Other mutations in Lrsam1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01393:Lrsam1	APN	2	32,845,185 (GRCm39)	splice site	probably benign
IGL01407:Lrsam1	APN	2	32,837,915 (GRCm39)	missense	probably damaging	0.99
IGL01565:Lrsam1	APN	2	32,826,507 (GRCm39)	missense	probably damaging	1.00
IGL01985:Lrsam1	APN	2	32,818,103 (GRCm39)	missense	probably benign
IGL02743:Lrsam1	APN	2	32,818,661 (GRCm39)	splice site	probably null
R0240:Lrsam1	UTSW	2	32,845,197 (GRCm39)	missense	probably damaging	1.00
R0845:Lrsam1	UTSW	2	32,843,455 (GRCm39)	missense	possibly damaging	0.94
R0945:Lrsam1	UTSW	2	32,837,921 (GRCm39)	missense	probably benign	0.04
R1475:Lrsam1	UTSW	2	32,844,277 (GRCm39)	missense	possibly damaging	0.48
R2147:Lrsam1	UTSW	2	32,835,891 (GRCm39)	missense	probably damaging	1.00
R3790:Lrsam1	UTSW	2	32,848,171 (GRCm39)	missense	probably null	1.00
R4374:Lrsam1	UTSW	2	32,845,203 (GRCm39)	missense	possibly damaging	0.79
R4822:Lrsam1	UTSW	2	32,816,804 (GRCm39)	missense	probably damaging	0.99
R5014:Lrsam1	UTSW	2	32,826,407 (GRCm39)	intron	probably benign
R5472:Lrsam1	UTSW	2	32,835,870 (GRCm39)	frame shift	probably null
R5566:Lrsam1	UTSW	2	32,831,870 (GRCm39)	missense	probably damaging	1.00
R5640:Lrsam1	UTSW	2	32,835,864 (GRCm39)	missense	probably benign	0.13
R5992:Lrsam1	UTSW	2	32,845,234 (GRCm39)	missense	probably benign	0.00
R7513:Lrsam1	UTSW	2	32,843,497 (GRCm39)	missense	probably benign	0.02
R7515:Lrsam1	UTSW	2	32,830,251 (GRCm39)	critical splice donor site	probably null
R8113:Lrsam1	UTSW	2	32,837,901 (GRCm39)	missense	possibly damaging	0.94
R9731:Lrsam1	UTSW	2	32,835,452 (GRCm39)	critical splice donor site	probably null
R9766:Lrsam1	UTSW	2	32,818,077 (GRCm39)	missense	probably benign
Z1176:Lrsam1	UTSW	2	32,831,826 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGGCTAACATCTGCTGTGCGTTC -3'
(R):5'- TTTGTGCTCACCATCCCTAGAGGC -3'

Sequencing Primer
(F):5'- CTAAAGCATCTGCCAAGTGG -3'
(R):5'- ATCCCTAGAGGCCCATCCTG -3'

Posted On

2013-07-11