Mutagenetix > Incidental Mutation

Incidental Mutation 'R5640:Lrsam1'

501276

Institutional Source

Beutler Lab

Gene Symbol

Lrsam1

Ensembl Gene

ENSMUSG00000026792

Gene Name

leucine rich repeat and sterile alpha motif containing 1

Synonyms

MMRRC Submission

043289-MU

Accession Numbers

Essential gene?

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

Stock #

R5640 (G1)

Quality Score

140

Status

Not validated

Chromosome

Chromosomal Location

32815228-32851626 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 32835864 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 301 (Q301L)

Ref Sequence

ENSEMBL: ENSMUSP00000108825 (fasta)

Gene Model

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

AlphaFold

Q80ZI6

Predicted Effect

probably benign
Transcript: ENSMUST00000028132
AA Change: Q301L

PolyPhen 2 Score 0.130 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000028132
Gene: ENSMUSG00000026792
AA Change: Q301L

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
AA Change: Q301L

PolyPhen 2 Score 0.130 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000108825
Gene: ENSMUSG00000026792
AA Change: Q301L

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

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.5%
20x: 95.7%

Validation Efficiency

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ace	A	G	11: 105,861,511 (GRCm39)	Y220C	probably damaging	Het
Actl6a	A	G	3: 32,772,199 (GRCm39)	T170A	probably damaging	Het
Adamts8	T	C	9: 30,867,796 (GRCm39)	V540A	probably benign	Het
Aga	T	C	8: 53,964,919 (GRCm39)	L27P	probably damaging	Het
Agmat	T	A	4: 141,483,134 (GRCm39)	H189Q	probably damaging	Het
Alx3	C	A	3: 107,507,977 (GRCm39)	T162K	probably damaging	Het
Armc2	T	A	10: 41,887,894 (GRCm39)	I30L	possibly damaging	Het
Atp10d	T	G	5: 72,404,552 (GRCm39)	Y487D	probably damaging	Het
Atp13a4	C	T	16: 29,234,649 (GRCm39)	M908I	probably damaging	Het
B4galt2	T	G	4: 117,731,195 (GRCm39)	N322T	probably benign	Het
Bmal1	C	T	7: 112,907,888 (GRCm39)	P530L	probably damaging	Het
Brdt	A	T	5: 107,507,174 (GRCm39)	K525*	probably null	Het
Ccdc168	T	C	1: 44,101,087 (GRCm39)	I4V	probably benign	Het
Ces3a	T	A	8: 105,778,377 (GRCm39)	M246K	probably benign	Het
Chd9	T	A	8: 91,763,190 (GRCm39)	H2338Q	probably damaging	Het
Cyp3a16	T	A	5: 145,389,633 (GRCm39)	D244V	possibly damaging	Het
Dhrs9	C	A	2: 69,224,822 (GRCm39)	A170E	probably damaging	Het
Dlg5	T	C	14: 24,220,529 (GRCm39)	N550D	probably damaging	Het
Dnah8	C	T	17: 31,022,082 (GRCm39)	T3894I	probably damaging	Het
Dpys	T	C	15: 39,705,462 (GRCm39)	H217R	probably damaging	Het
Dpysl2	C	T	14: 67,071,817 (GRCm39)	V108I	probably benign	Het
Eprs1	A	G	1: 185,106,381 (GRCm39)	T199A	probably benign	Het
Fads1	A	G	19: 10,163,767 (GRCm39)	D183G	probably damaging	Het
Fam110b	T	G	4: 5,798,689 (GRCm39)	Y36D	probably damaging	Het
Fbxl21	G	A	13: 56,685,194 (GRCm39)	D407N	probably benign	Het
Fuca2	G	A	10: 13,383,174 (GRCm39)		probably null	Het
Gnas	C	A	2: 174,126,764 (GRCm39)	R100S	probably benign	Het
Gse1	A	G	8: 121,289,416 (GRCm39)	H90R	possibly damaging	Het
Hoxc10	G	T	15: 102,875,702 (GRCm39)	C137F	probably benign	Het
Ipp	T	G	4: 116,377,886 (GRCm39)	L252R	possibly damaging	Het
Jmjd1c	T	A	10: 67,061,857 (GRCm39)	S1403R	probably benign	Het
Kif19a	A	G	11: 114,670,041 (GRCm39)	M79V	probably benign	Het
Lipo4	T	C	19: 33,478,986 (GRCm39)	T285A	possibly damaging	Het
Lrrc66	A	T	5: 73,765,977 (GRCm39)	D355E	probably benign	Het
Med6	C	T	12: 81,628,628 (GRCm39)	R138Q	probably damaging	Het
Nlrc5	A	G	8: 95,202,421 (GRCm39)	T174A	probably benign	Het
Nrbp1	C	T	5: 31,406,929 (GRCm39)	R322W	possibly damaging	Het
Or10ak14	T	A	4: 118,610,986 (GRCm39)	T250S	probably benign	Het
Or11g24	C	A	14: 50,662,111 (GRCm39)	A45D	probably benign	Het
Or4a47	T	A	2: 89,666,282 (GRCm39)	E2D	probably benign	Het
Pde3a	A	G	6: 141,429,641 (GRCm39)	E734G	probably damaging	Het
Pgap6	C	T	17: 26,337,846 (GRCm39)	T410I	possibly damaging	Het
Pnpla7	C	T	2: 24,893,013 (GRCm39)	T167I	possibly damaging	Het
Pop7	T	C	5: 137,500,321 (GRCm39)	N4S	possibly damaging	Het
Ppm1h	C	A	10: 122,618,183 (GRCm39)	P114Q	probably benign	Het
Prdm16	T	C	4: 154,426,367 (GRCm39)	T473A	probably benign	Het
Prdm6	T	C	18: 53,669,813 (GRCm39)		probably null	Het
Prkdc	T	G	16: 15,647,633 (GRCm39)	W3686G	possibly damaging	Het
Ptchd4	C	A	17: 42,814,026 (GRCm39)	H642Q	possibly damaging	Het
Rad1	A	G	15: 10,496,009 (GRCm39)	Y228C	possibly damaging	Het
Rgs22	G	A	15: 36,107,101 (GRCm39)	T56I	probably benign	Het
Rnf135	C	A	11: 80,084,733 (GRCm39)	H169N	probably benign	Het
Rnft1	C	T	11: 86,377,319 (GRCm39)	Q128*	probably null	Het
Sez6	T	C	11: 77,864,585 (GRCm39)		probably benign	Het
Sh3rf3	A	G	10: 58,649,769 (GRCm39)	S125G	probably benign	Het
Sik2	T	C	9: 50,826,806 (GRCm39)	E295G	possibly damaging	Het
Themis	A	G	10: 28,739,372 (GRCm39)	Q614R	probably damaging	Het
Thsd7b	T	A	1: 130,044,408 (GRCm39)	C1129*	probably null	Het
Tmem68	A	T	4: 3,569,512 (GRCm39)	F59L	probably benign	Het
Vmn2r107	A	G	17: 20,595,426 (GRCm39)	T660A	probably damaging	Het
Vwa5b2	G	T	16: 20,416,292 (GRCm39)	C484F	probably damaging	Het
Zfp418	T	A	7: 7,184,980 (GRCm39)	C314*	probably null	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
R0591:Lrsam1	UTSW	2	32,823,935 (GRCm39)	splice site	probably benign
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
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'- CTGCAGGTTCCTTTGTGACC -3'
(R):5'- GTTCTCCCTGAGGATTGCAG -3'

Sequencing Primer
(F):5'- AGGTTCCTTTGTGACCTGGGG -3'
(R):5'- ATTGCAGCTCCTCAGAAGCTG -3'

Posted On

2017-12-01