Mutagenetix > Incidental Mutation

Incidental Mutation 'R5992:Lrsam1'

480860

Institutional Source

Beutler Lab

Gene Symbol

Lrsam1

Ensembl Gene

ENSMUSG00000026792

Gene Name

leucine rich repeat and sterile alpha motif containing 1

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.077) question?

Stock #

R5992 (G1)

Quality Score

150.008

Status

Not validated

Chromosome

Chromosomal Location

32815228-32851626 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 32845234 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 94 (T94A)

Ref Sequence

ENSEMBL: ENSMUSP00000108825 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028132] [ENSMUST00000113200] [ENSMUST00000124492] [ENSMUST00000127321] [ENSMUST00000133832] [ENSMUST00000145578] [ENSMUST00000147528] [ENSMUST00000191838]

AlphaFold

Q80ZI6

Predicted Effect

probably benign
Transcript: ENSMUST00000028132
AA Change: T94A

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

SMART Domains

Protein: ENSMUSP00000028132
Gene: ENSMUSG00000026792
AA Change: T94A

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: T94A

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

SMART Domains

Protein: ENSMUSP00000108825
Gene: ENSMUSG00000026792
AA Change: T94A

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: ENSMUST00000124492

Predicted Effect

probably benign
Transcript: ENSMUST00000127321
AA Change: T94A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000115830
Gene: ENSMUSG00000026792
AA Change: T94A

Domain	Start	End	E-Value	Type
LRR	80	102	1.26e1	SMART
LRR_TYP	103	126	1.79e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000133832
AA Change: T94A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000117194
Gene: ENSMUSG00000026792
AA Change: T94A

Domain	Start	End	E-Value	Type
LRR	80	102	1.26e1	SMART
LRR_TYP	103	126	1.79e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000145578

Predicted Effect

probably benign
Transcript: ENSMUST00000147528
AA Change: T94A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000122877
Gene: ENSMUSG00000026792
AA Change: T94A

Domain	Start	End	E-Value	Type
Pfam:LRR_1	32	52	8.9e-2	PFAM
LRR	80	102	1.26e1	SMART
LRR	103	124	3.75e0	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000191838

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.4%
20x: 91.9%

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars2	T	A	17: 45,819,549 (GRCm39)	L188*	probably null	Het
Acod1	C	T	14: 103,292,471 (GRCm39)	R332C	probably damaging	Het
Adamts3	T	A	5: 89,839,194 (GRCm39)	K852M	probably damaging	Het
Adm	A	T	7: 110,226,903 (GRCm39)		probably benign	Het
Aff4	A	G	11: 53,263,837 (GRCm39)	S286G	probably damaging	Het
Ank2	A	G	3: 126,753,300 (GRCm39)		probably null	Het
Aqr	A	T	2: 113,973,530 (GRCm39)	Y427*	probably null	Het
Arid1b	C	A	17: 5,045,231 (GRCm39)		probably benign	Het
Arpp21	T	A	9: 111,972,553 (GRCm39)	R259*	probably null	Het
Cep290	C	T	10: 100,379,183 (GRCm39)	A55V	possibly damaging	Het
Chsy3	GT	G	18: 59,309,238 (GRCm39)	163	probably null	Het
Clcn2	T	C	16: 20,532,404 (GRCm39)	E68G	possibly damaging	Het
Corin	T	A	5: 72,473,732 (GRCm39)	H699L	probably benign	Het
Cyld	T	C	8: 89,459,681 (GRCm39)	Y446H	probably damaging	Het
Dcst1	T	A	3: 89,259,883 (GRCm39)	E613V	probably damaging	Het
Dlk1	T	C	12: 109,421,507 (GRCm39)	C74R	probably damaging	Het
Dnah12	A	C	14: 26,418,496 (GRCm39)	K128T	probably benign	Het
Dspp	T	A	5: 104,326,317 (GRCm39)	S893R	unknown	Het
Dtl	A	T	1: 191,300,684 (GRCm39)		probably null	Het
F2rl1	T	A	13: 95,650,778 (GRCm39)	S35C	probably benign	Het
Fcgbp	A	T	7: 27,819,959 (GRCm39)	Y2562F	probably benign	Het
Fgf10	A	T	13: 118,852,044 (GRCm39)	D42V	probably benign	Het
Gm10271	A	T	10: 116,808,497 (GRCm39)	F6L	probably damaging	Het
Gm21190	T	A	5: 15,729,849 (GRCm39)	E256D	probably damaging	Het
Gm5157	A	G	7: 20,919,346 (GRCm39)	S66P	probably damaging	Het
Hal	T	G	10: 93,326,778 (GRCm39)	L138R	probably damaging	Het
Hsd17b3	T	C	13: 64,207,284 (GRCm39)		probably null	Het
Lrrc37	A	T	11: 103,504,618 (GRCm39)	M2450K	possibly damaging	Het
Macc1	T	C	12: 119,411,320 (GRCm39)	V696A	probably damaging	Het
Magi2	G	A	5: 19,432,289 (GRCm39)	M1I	probably null	Het
Marchf7	C	A	2: 60,075,564 (GRCm39)	N674K	probably benign	Het
Mfap1b	A	G	2: 121,300,776 (GRCm39)	V34A	probably benign	Het
Mob3b	G	A	4: 35,084,069 (GRCm39)	S40L	probably benign	Het
Ndufs2	A	T	1: 171,063,987 (GRCm39)	V386E	probably damaging	Het
Nfic	C	T	10: 81,256,581 (GRCm39)	A19T	probably damaging	Het
Nfs1	G	A	2: 155,976,373 (GRCm39)	R174W	probably damaging	Het
Nin	G	T	12: 70,092,298 (GRCm39)	S670R	possibly damaging	Het
Nrxn1	T	C	17: 90,930,935 (GRCm39)	I754V	probably benign	Het
Nwd1	T	C	8: 73,380,201 (GRCm39)		probably null	Het
Or4a39	T	A	2: 89,237,223 (GRCm39)	M67L	probably benign	Het
Or4c1	T	A	2: 89,133,703 (GRCm39)	T78S	possibly damaging	Het
Or51a6	G	T	7: 102,604,216 (GRCm39)	N197K	probably benign	Het
Pcdhgb8	A	G	18: 37,896,502 (GRCm39)	E524G	probably damaging	Het
Phlpp1	A	T	1: 106,246,723 (GRCm39)	R638*	probably null	Het
Pkmyt1	G	C	17: 23,954,300 (GRCm39)	W360S	probably benign	Het
Plxnd1	C	A	6: 115,944,748 (GRCm39)		probably null	Het
Poldip3	A	T	15: 83,013,430 (GRCm39)	N322K	probably damaging	Het
Prmt3	A	T	7: 49,478,695 (GRCm39)	I419L	probably benign	Het
Prss36	A	T	7: 127,544,002 (GRCm39)	V123E	probably damaging	Het
Prss58	A	G	6: 40,874,703 (GRCm39)	I46T	probably damaging	Het
Rac1	T	C	5: 143,492,753 (GRCm39)		probably benign	Het
Rb1cc1	A	G	1: 6,304,220 (GRCm39)	Y36C	probably damaging	Het
Rif1	C	G	2: 51,985,856 (GRCm39)	L614V	probably damaging	Het
Rnd2	C	T	11: 101,359,825 (GRCm39)	L57F	probably damaging	Het
Rp1	A	T	1: 4,218,926 (GRCm39)	F951L	unknown	Het
Rps6ka5	G	T	12: 100,541,509 (GRCm39)	P417T	possibly damaging	Het
Ryr1	A	G	7: 28,767,062 (GRCm39)	W2967R	probably damaging	Het
Sacs	T	A	14: 61,442,992 (GRCm39)	S1679R	probably damaging	Het
Scn1a	A	C	2: 66,165,800 (GRCm39)	W153G	probably damaging	Het
Serpinb7	A	G	1: 107,373,726 (GRCm39)	Y114C	probably damaging	Het
Son	T	C	16: 91,455,792 (GRCm39)	M1513T	probably benign	Het
Spag8	C	T	4: 43,651,534 (GRCm39)	V447M	probably benign	Het
St3gal2	T	A	8: 111,696,185 (GRCm39)	Y257N	probably damaging	Het
Tars1	A	T	15: 11,397,282 (GRCm39)	D40E	probably damaging	Het
Tlr3	T	C	8: 45,850,851 (GRCm39)	H158R	probably benign	Het
Tppp2	G	T	14: 52,156,392 (GRCm39)	V50L	probably benign	Het
Trrap	T	C	5: 144,746,994 (GRCm39)	S1503P	probably benign	Het
Ttll4	T	G	1: 74,724,550 (GRCm39)	S573R	probably damaging	Het
Vmn2r104	A	T	17: 20,249,747 (GRCm39)	N841K	probably damaging	Het
Vmn2r3	A	T	3: 64,167,068 (GRCm39)	C688S	probably damaging	Het
Vps16	T	C	2: 130,266,369 (GRCm39)		probably null	Het
Zfp608	G	A	18: 55,032,320 (GRCm39)	T540I	probably benign	Het
Zfp775	G	A	6: 48,596,750 (GRCm39)	R208Q	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
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
R5640:Lrsam1	UTSW	2	32,835,864 (GRCm39)	missense	probably benign	0.13
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'- ACAAGCCGGGTCCTGGAAG -3'
(R):5'- GAAGACTATGAGCTGGTGAGC -3'

Sequencing Primer
(F):5'- AAGACTGTCACGGTCATGC -3'
(R):5'- AGTTTGAGACCAGCCTGATC -3'

Posted On

2017-06-26