Mutagenetix > Incidental Mutation

Incidental Mutation 'R5472:Lrsam1'

433850

Institutional Source

Beutler Lab

Gene Symbol

Lrsam1

Ensembl Gene

ENSMUSG00000026792

Gene Name

leucine rich repeat and sterile alpha motif containing 1

Synonyms

MMRRC Submission

043033-MU

Accession Numbers

Essential gene?

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

Stock #

R5472 (G1)

Quality Score

116

Status

Not validated

Chromosome

Chromosomal Location

32815228-32851626 bp(-) (GRCm39)

Type of Mutation

frame shift

DNA Base Change (assembly)

ACC to AC at 32835870 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000108825 (fasta)

Gene Model

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

AlphaFold

Q80ZI6

Predicted Effect

probably null
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 null
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

Coding Region Coverage

1x: 98.3%
3x: 97.3%
10x: 95.3%
20x: 91.3%

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ajm1	T	C	2: 25,469,714 (GRCm39)	T66A	probably benign	Het
Akap11	T	C	14: 78,750,869 (GRCm39)	N506S	probably benign	Het
Brinp3	A	T	1: 146,777,197 (GRCm39)	H548L	possibly damaging	Het
Cacna1c	A	G	6: 118,615,407 (GRCm39)	V1328A	possibly damaging	Het
Carmil1	C	T	13: 24,339,454 (GRCm39)	V47I	probably damaging	Het
Cdk2ap2	C	A	19: 4,148,048 (GRCm39)	T76K	probably benign	Het
Col16a1	T	C	4: 129,986,564 (GRCm39)		probably benign	Het
Cspg4b	A	G	13: 113,455,703 (GRCm39)	D583G	probably benign	Het
Cxcr4	C	A	1: 128,517,362 (GRCm39)	A100S	probably damaging	Het
Fancl	G	T	11: 26,419,677 (GRCm39)	C305F	probably damaging	Het
Gcnt2	T	C	13: 41,107,055 (GRCm39)	V308A	probably benign	Het
Gm11733	A	T	11: 117,375,322 (GRCm39)	I24L	unknown	Het
Gm973	A	G	1: 59,667,446 (GRCm39)		probably null	Het
Heatr5b	A	T	17: 79,109,089 (GRCm39)	F1057I	probably damaging	Het
Ifi213	A	T	1: 173,394,838 (GRCm39)		probably null	Het
Ighv1-20	A	T	12: 114,687,471 (GRCm39)	V91E	probably damaging	Het
Inhba	A	G	13: 16,201,371 (GRCm39)	E311G	probably damaging	Het
Irx3	G	T	8: 92,526,108 (GRCm39)		probably null	Het
Jag1	C	A	2: 136,926,915 (GRCm39)	C948F	probably damaging	Het
Kcna2	T	C	3: 107,012,625 (GRCm39)	I402T	possibly damaging	Het
Kcnh8	A	T	17: 53,284,844 (GRCm39)	Q938L	possibly damaging	Het
Macf1	T	C	4: 123,343,854 (GRCm39)	T2123A	probably benign	Het
Mdfic2	A	T	6: 98,215,237 (GRCm39)	C129S	probably damaging	Het
Mdh1	A	T	11: 21,509,786 (GRCm39)	N196K	probably benign	Het
Msh6	G	A	17: 88,291,989 (GRCm39)	R248Q	possibly damaging	Het
Odf2l	G	T	3: 144,852,627 (GRCm39)	R457L	probably benign	Het
Or6c69c	A	T	10: 129,910,898 (GRCm39)	L206F	probably damaging	Het
Pphln1	T	C	15: 93,386,856 (GRCm39)	V318A	possibly damaging	Het
Ppp1r12a	C	T	10: 108,075,973 (GRCm39)	T267I	probably damaging	Het
Pramel15	T	C	4: 144,103,727 (GRCm39)	D133G	probably benign	Het
Prpf8	A	C	11: 75,394,469 (GRCm39)	K1801N	possibly damaging	Het
Raf1	A	G	6: 115,603,667 (GRCm39)		probably null	Het
Rasal3	C	A	17: 32,615,643 (GRCm39)	L374F	probably damaging	Het
S1pr3	T	A	13: 51,573,683 (GRCm39)	V288D	probably damaging	Het
Setd7	G	A	3: 51,428,886 (GRCm39)	P315S	probably benign	Het
Slx4	C	T	16: 3,809,404 (GRCm39)	A364T	probably benign	Het
Sp7	G	A	15: 102,267,749 (GRCm39)	T19I	probably benign	Het
Tlr9	T	A	9: 106,101,512 (GRCm39)	C268S	probably damaging	Het
Tmem117	T	A	15: 94,992,394 (GRCm39)	D351E	possibly damaging	Het
Tmem45b	T	A	9: 31,339,340 (GRCm39)	D211V	possibly damaging	Het
Tns3	A	G	11: 8,401,092 (GRCm39)	S1069P	probably benign	Het
Tsnax	A	G	8: 125,742,501 (GRCm39)	I77V	probably benign	Het
Txndc5	G	A	13: 38,697,101 (GRCm39)	L79F	possibly damaging	Het
Ube2q1	A	G	3: 89,684,548 (GRCm39)	E14G	probably benign	Het
Vmn2r28	C	T	7: 5,490,943 (GRCm39)		probably null	Het
Vwde	A	T	6: 13,193,117 (GRCm39)	D407E	probably benign	Het
Wdr35	T	A	12: 9,066,619 (GRCm39)	M749K	probably benign	Het
Zfp109	A	T	7: 23,928,046 (GRCm39)	C462*	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
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'- CTGCAGGTTCCTTTGTGACC -3'
(R):5'- GTTCTCCCTGAGGATTGCAG -3'

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

Posted On

2016-10-06