Mutagenetix > Incidental Mutation

Incidental Mutation 'R9766:Lrsam1'

733250

Institutional Source

Beutler Lab

Gene Symbol

Lrsam1

Ensembl Gene

ENSMUSG00000026792

Gene Name

leucine rich repeat and sterile alpha motif containing 1

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9766 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

32815228-32851626 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 32818077 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 660 (Q660K)

Ref Sequence

ENSEMBL: ENSMUSP00000028132 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028132] [ENSMUST00000028135] [ENSMUST00000113200]

AlphaFold

Q80ZI6

Predicted Effect

probably benign
Transcript: ENSMUST00000028132
AA Change: Q660K

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

SMART Domains

Protein: ENSMUSP00000028132
Gene: ENSMUSG00000026792
AA Change: Q660K

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: ENSMUST00000028135

SMART Domains

Protein: ENSMUSP00000028135
Gene: ENSMUSG00000026796

Domain	Start	End	E-Value	Type
PH	69	194	1.81e-2	SMART
low complexity region	594	607	N/A	INTRINSIC
low complexity region	685	700	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000113200
AA Change: Q660K

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

SMART Domains

Protein: ENSMUSP00000108825
Gene: ENSMUSG00000026792
AA Change: Q660K

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: 99.9%
3x: 99.8%
10x: 99.3%
20x: 98.5%

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	A	G	14: 32,385,788 (GRCm39)	V59A	probably benign	Het
Aatk	A	T	11: 119,902,565 (GRCm39)	H610Q	probably benign	Het
Acox1	G	A	11: 116,071,867 (GRCm39)	A187V	probably damaging	Het
Acsbg3	A	G	17: 57,189,177 (GRCm39)	Y195C	probably benign	Het
AI661453	C	T	17: 47,757,570 (GRCm39)	R76W	probably damaging	Het
Anapc1	C	T	2: 128,500,221 (GRCm39)	R808Q	probably damaging	Het
Ankrd26	T	C	6: 118,500,067 (GRCm39)	T1135A	possibly damaging	Het
Arhgap17	A	G	7: 122,921,148 (GRCm39)	V113A	probably benign	Het
Art3	T	C	5: 92,562,138 (GRCm39)	C379R	unknown	Het
Bltp3a	T	C	17: 28,105,799 (GRCm39)	L775P	probably damaging	Het
Bmp5	A	G	9: 75,800,982 (GRCm39)	I371V	probably damaging	Het
Ccdc88b	T	A	19: 6,833,096 (GRCm39)	E281V	probably damaging	Het
Ces1e	A	T	8: 93,946,031 (GRCm39)	Y171N	probably damaging	Het
Cib3	A	T	8: 72,961,034 (GRCm39)	F68I	possibly damaging	Het
Crtac1	A	T	19: 42,402,557 (GRCm39)	L17Q	possibly damaging	Het
Crybg3	A	T	16: 59,376,207 (GRCm39)	S1682R	probably benign	Het
Ddx60	G	A	8: 62,465,312 (GRCm39)	G1323D	probably damaging	Het
Dock3	A	C	9: 106,788,483 (GRCm39)	D161E	probably benign	Het
Dpep3	A	C	8: 106,705,369 (GRCm39)	L127R	probably damaging	Het
Dus2	A	G	8: 106,772,568 (GRCm39)	D226G	probably damaging	Het
Ebna1bp2	T	C	4: 118,480,821 (GRCm39)	V184A	possibly damaging	Het
Edem1	T	A	6: 108,823,648 (GRCm39)	I348N	probably damaging	Het
Efcab8	A	T	2: 153,656,362 (GRCm39)	M599L	unknown	Het
Eif2ak4	A	T	2: 118,261,313 (GRCm39)	K618*	probably null	Het
Fbxw27	T	C	9: 109,602,215 (GRCm39)	K253E	possibly damaging	Het
Fgf5	A	G	5: 98,423,113 (GRCm39)	E166G	possibly damaging	Het
Flot1	G	T	17: 36,141,555 (GRCm39)	E321*	probably null	Het
Gm14443	T	C	2: 175,012,248 (GRCm39)	E66G	probably benign	Het
Gprc6a	G	A	10: 51,491,884 (GRCm39)	P622S	probably damaging	Het
Gsta2	A	T	9: 78,244,876 (GRCm39)	Y79*	probably null	Het
Hecw2	A	G	1: 53,904,287 (GRCm39)	S1154P	probably damaging	Het
Hrob	A	T	11: 102,146,586 (GRCm39)	Q287H	possibly damaging	Het
Kcnd2	T	C	6: 21,216,367 (GRCm39)	S24P	probably benign	Het
Knl1	A	G	2: 118,900,381 (GRCm39)	D694G	probably damaging	Het
L1td1	T	C	4: 98,624,753 (GRCm39)	I316T	probably benign	Het
Muc16	T	A	9: 18,548,153 (GRCm39)	T6047S	probably benign	Het
Muc16	T	A	9: 18,552,383 (GRCm39)	T4637S	probably benign	Het
Myo5a	T	C	9: 75,078,914 (GRCm39)	Y891H	probably damaging	Het
Nkd2	G	T	13: 73,995,131 (GRCm39)	D22E	possibly damaging	Het
Patl2	A	T	2: 121,954,212 (GRCm39)	V453E	probably damaging	Het
Pcnx2	A	G	8: 126,488,313 (GRCm39)	Y1744H	probably damaging	Het
Phf8-ps	T	G	17: 33,285,647 (GRCm39)	N385T	probably damaging	Het
Pira2	T	A	7: 3,845,517 (GRCm39)	H289L	possibly damaging	Het
Pitpnm1	T	C	19: 4,158,117 (GRCm39)	I569T	probably benign	Het
Ppp4r4	T	C	12: 103,562,735 (GRCm39)	V568A	probably benign	Het
Ptf1a	G	A	2: 19,451,062 (GRCm39)	G131S	probably benign	Het
Rasgrf2	G	T	13: 92,160,188 (GRCm39)	H396N	probably damaging	Het
Rfx1	C	T	8: 84,814,376 (GRCm39)	T315M	probably damaging	Het
Rnf207	C	A	4: 152,400,402 (GRCm39)	R148L	probably damaging	Het
Scn11a	T	G	9: 119,584,181 (GRCm39)	N1478T	probably damaging	Het
Sdr39u1	C	T	14: 56,135,194 (GRCm39)	V250I	probably benign	Het
Serinc3	T	C	2: 163,471,095 (GRCm39)	T276A	probably damaging	Het
Speer4a3	AACT	A	5: 26,155,849 (GRCm39)		probably benign	Het
Stambp	C	A	6: 83,534,469 (GRCm39)	A273S	probably benign	Het
Taf2	T	C	15: 54,910,881 (GRCm39)		probably null	Het
Tex26	A	T	5: 149,386,642 (GRCm39)	Y232F	probably damaging	Het
Tmem258	T	C	19: 10,184,578 (GRCm39)	L55P	probably damaging	Het
Trappc8	A	G	18: 20,979,630 (GRCm39)	I755T	possibly damaging	Het
Ubr4	T	C	4: 139,194,595 (GRCm39)	Y1163H	unknown	Het
Usp14	G	A	18: 10,005,630 (GRCm39)	T254I	probably benign	Het
Vcan	A	G	13: 89,839,247 (GRCm39)	L2099P	probably benign	Het
Wdfy3	C	T	5: 102,042,866 (GRCm39)	V1962I	possibly damaging	Het
Zfp407	T	C	18: 84,577,574 (GRCm39)	T1180A	probably benign	Het
Zfp644	C	A	5: 106,784,691 (GRCm39)	G619C	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
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
Z1176:Lrsam1	UTSW	2	32,831,826 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTTCTCTGGGGAAAATGGACTCTAG -3'
(R):5'- CTCACAGATGGACACGGAAG -3'

Sequencing Primer
(F):5'- TGGACTCTAGACAATGTCAGC -3'
(R):5'- AGGGAGATCCTTCCCCTGCTC -3'

Posted On

2022-11-14