Mutagenetix > Incidental Mutation

Incidental Mutation 'R8022:Lsm3'

617447

Institutional Source

Beutler Lab

Gene Symbol

Lsm3

Ensembl Gene

ENSMUSG00000034192

Gene Name

LSM3 homolog, U6 small nuclear RNA and mRNA degradation associated

Synonyms

2610005D18Rik, SMX4, USS2, 1010001J12Rik, 6030401D18Rik

MMRRC Submission

067461-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.952) question?

Stock #

R8022 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

91515928-91522625 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 91519561 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Tyrosine at position 49 (H49Y)

Ref Sequence

ENSEMBL: ENSMUSP00000044178 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032182] [ENSMUST00000040607] [ENSMUST00000206476] [ENSMUST00000206947]

AlphaFold

P62311

Predicted Effect

probably benign
Transcript: ENSMUST00000032182

SMART Domains

Protein: ENSMUSP00000032182
Gene: ENSMUSG00000030094

Domain	Start	End	E-Value	Type
low complexity region	69	82	N/A	INTRINSIC
low complexity region	106	115	N/A	INTRINSIC
low complexity region	118	142	N/A	INTRINSIC
low complexity region	299	315	N/A	INTRINSIC
low complexity region	335	352	N/A	INTRINSIC
low complexity region	371	387	N/A	INTRINSIC
low complexity region	425	439	N/A	INTRINSIC
Pfam:Rad4	485	619	6.4e-26	PFAM
BHD_1	623	675	4.09e-25	SMART
BHD_2	677	737	4.96e-24	SMART
BHD_3	744	818	4.83e-45	SMART
low complexity region	826	835	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000040607
AA Change: H49Y

PolyPhen 2 Score 0.096 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000044178
Gene: ENSMUSG00000034192
AA Change: H49Y

Domain	Start	End	E-Value	Type
Sm	19	97	3.79e-21	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000150279

Predicted Effect

probably benign
Transcript: ENSMUST00000206476

Predicted Effect

probably benign
Transcript: ENSMUST00000206947
AA Change: H49Y

PolyPhen 2 Score 0.096 (Sensitivity: 0.93; Specificity: 0.85)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Sm-like proteins were identified in a variety of organisms based on sequence homology with the Sm protein family (see SNRPD2; MIM 601061). Sm-like proteins contain the Sm sequence motif, which consists of 2 regions separated by a linker of variable length that folds as a loop. The Sm-like proteins are thought to form a stable heteromer present in tri-snRNP particles, which are important for pre-mRNA splicing.[supplied by OMIM, Apr 2004]

Allele List at MGI

Other mutations in this stock

Total: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acacb	A	T	5: 114,223,854 (GRCm38)	T1386S	probably benign	Het
AI661453	T	G	17: 47,466,236 (GRCm38)	S296A	unknown	Het
Ambp	G	T	4: 63,144,197 (GRCm38)	N268K	probably damaging	Het
Ankrd11	T	C	8: 122,887,593 (GRCm38)	K2503E	probably damaging	Het
Ap1g1	C	A	8: 109,832,735 (GRCm38)	R221S	possibly damaging	Het
Ap5z1	T	C	5: 142,470,149 (GRCm38)		probably null	Het
Aspa	A	C	11: 73,322,206 (GRCm38)	N103K	probably benign	Het
BC049730	T	A	7: 24,714,174 (GRCm38)	I205N	possibly damaging	Het
Bend7	G	A	2: 4,752,779 (GRCm38)	V211I	probably benign	Het
Bsn	A	G	9: 108,114,404 (GRCm38)	M1383T	probably benign	Het
Cad	G	T	5: 31,068,806 (GRCm38)	V1117F	probably damaging	Het
Cdh2	A	G	18: 16,590,301 (GRCm38)	L856S	probably damaging	Het
Cdh7	T	A	1: 110,061,108 (GRCm38)	S247T	probably benign	Het
Ces1b	A	G	8: 93,069,315 (GRCm38)		probably null	Het
Chd7	T	A	4: 8,751,605 (GRCm38)	V34E	unknown	Het
Clca3a2	A	T	3: 144,805,766 (GRCm38)	F623I	probably damaging	Het
Cope	T	G	8: 70,312,803 (GRCm38)	M217R	probably benign	Het
Crim1	T	A	17: 78,315,555 (GRCm38)	I394N	possibly damaging	Het
Crnkl1	A	T	2: 145,918,566 (GRCm38)	I644N	probably damaging	Het
Cry1	G	A	10: 85,146,402 (GRCm38)	A360V	probably damaging	Het
Ctcfl	A	T	2: 173,118,766 (GRCm38)	V8D	probably benign	Het
Cyp2d34	G	A	15: 82,616,114 (GRCm38)	Q475*	probably null	Het
Cyp39a1	T	C	17: 43,746,577 (GRCm38)	Y436H	probably damaging	Het
Cyp3a25	T	A	5: 145,977,668 (GRCm38)	Q484L	probably benign	Het
Dnah1	A	G	14: 31,265,014 (GRCm38)	F3607S	probably damaging	Het
Dnali1	T	A	4: 125,065,530 (GRCm38)	K23N	possibly damaging	Het
Ecel1	T	C	1: 87,153,330 (GRCm38)	I313V	probably benign	Het
Ehhadh	C	A	16: 21,777,820 (GRCm38)	A53S	probably benign	Het
Epcam	T	C	17: 87,646,308 (GRCm38)	S277P	probably benign	Het
Fbxo10	T	C	4: 45,062,062 (GRCm38)	I155V	possibly damaging	Het
Fgd6	A	T	10: 94,044,344 (GRCm38)	K353N	possibly damaging	Het
Glce	A	T	9: 62,060,591 (GRCm38)	M426K	probably benign	Het
Glmp	A	T	3: 88,326,520 (GRCm38)	N228I	probably damaging	Het
Gm4787	C	A	12: 81,377,720 (GRCm38)	V555F	possibly damaging	Het
Gm5114	T	A	7: 39,409,376 (GRCm38)	H273L	probably benign	Het
Gzmg	T	A	14: 56,157,446 (GRCm38)	T122S	probably benign	Het
Hace1	T	C	10: 45,700,970 (GRCm38)	V820A	probably damaging	Het
Igf2r	T	A	17: 12,718,795 (GRCm38)	D535V	probably damaging	Het
Kcnd3	A	G	3: 105,458,873 (GRCm38)	M20V	probably benign	Het
Kcnn3	T	G	3: 89,609,703 (GRCm38)	I473S	possibly damaging	Het
Klhl35	T	A	7: 99,473,239 (GRCm38)	F94Y	unknown	Het
Kmt2c	C	T	5: 25,281,680 (GRCm38)	V4712I	possibly damaging	Het
Lepr	A	G	4: 101,782,557 (GRCm38)	E740G	probably benign	Het
Lmod3	T	C	6: 97,248,299 (GRCm38)	D187G	probably benign	Het
Magi1	T	C	6: 93,697,365 (GRCm38)	S962G	probably damaging	Het
Man2b1	G	A	8: 85,095,613 (GRCm38)	R782Q	probably damaging	Het
Mical2	A	T	7: 112,303,767 (GRCm38)	K148N	probably damaging	Het
Nbeal1	C	T	1: 60,260,272 (GRCm38)	Q1256*	probably null	Het
Ncam1	G	T	9: 49,564,892 (GRCm38)	A299D	possibly damaging	Het
Ncapg	A	G	5: 45,681,794 (GRCm38)	D512G	probably damaging	Het
Nkiras2	A	G	11: 100,624,287 (GRCm38)	N28D	probably benign	Het
Nprl2	A	C	9: 107,543,061 (GRCm38)	K53T	probably damaging	Het
Nr4a3	T	A	4: 48,051,510 (GRCm38)	I88N	probably damaging	Het
Oas3	A	G	5: 120,756,966 (GRCm38)	I986T	possibly damaging	Het
Olfr809	A	T	10: 129,776,785 (GRCm38)	L305F	possibly damaging	Het
Pcsk1	A	T	13: 75,099,293 (GRCm38)	Y187F	possibly damaging	Het
Pgc	A	G	17: 47,728,776 (GRCm38)	T32A	probably benign	Het
Ranbp2	A	C	10: 58,485,861 (GRCm38)	D2660A	possibly damaging	Het
Retreg1	A	G	15: 25,843,479 (GRCm38)	R46G		Het
Rrbp1	C	A	2: 143,956,792 (GRCm38)	K1100N	probably benign	Het
Rsph10b	A	T	5: 143,967,232 (GRCm38)	T676S	probably benign	Het
Setdb1	T	A	3: 95,347,085 (GRCm38)	D195V	probably damaging	Het
Setdb1	A	T	3: 95,338,599 (GRCm38)	F672I	probably damaging	Het
Slc12a8	A	G	16: 33,625,086 (GRCm38)	E450G	probably benign	Het
Slc1a7	G	A	4: 108,012,276 (GRCm38)	V513M	probably benign	Het
Slc25a12	A	T	2: 71,275,189 (GRCm38)	V667E	unknown	Het
Slc39a3	T	C	10: 81,031,277 (GRCm38)	T212A	probably benign	Het
Slc45a1	C	T	4: 150,638,309 (GRCm38)	G373S	possibly damaging	Het
Snx11	G	A	11: 96,772,854 (GRCm38)	T53M	probably damaging	Het
Snx33	A	G	9: 56,925,340 (GRCm38)	F482L	possibly damaging	Het
Srebf2	C	T	15: 82,178,765 (GRCm38)	R468C	probably damaging	Het
Stk32a	C	T	18: 43,315,101 (GRCm38)	Q382*	probably null	Het
Sun3	C	A	11: 9,023,376 (GRCm38)	S167I	probably damaging	Het
Sycp2	A	G	2: 178,355,062 (GRCm38)	L1116P	probably damaging	Het
Thbs4	T	G	13: 92,752,447 (GRCm38)	T913P	probably damaging	Het
Trav8d-1	C	T	14: 52,778,827 (GRCm38)	Q57*	probably null	Het
Trio	C	G	15: 27,749,866 (GRCm38)	V2250L	probably benign	Het
Unc119b	A	T	5: 115,127,043 (GRCm38)	I204N	probably damaging	Het
Usp4	A	G	9: 108,378,471 (GRCm38)	E576G	probably damaging	Het
Uvssa	T	A	5: 33,409,504 (GRCm38)	L515Q	probably damaging	Het
Xkr8	T	C	4: 132,732,338 (GRCm38)	Y43C	probably damaging	Het
Xpo6	G	A	7: 126,169,254 (GRCm38)	L94F	probably benign	Het
Zbtb11	A	G	16: 56,006,020 (GRCm38)	K804R	probably damaging	Het
Zfp616	A	G	11: 74,084,068 (GRCm38)	R479G	probably benign	Het
Zfp661	T	C	2: 127,577,924 (GRCm38)	T99A	probably benign	Het
Zfp839	A	T	12: 110,855,098 (GRCm38)	Q115H	probably damaging	Het
Zyg11a	C	T	4: 108,189,568 (GRCm38)		probably null	Het

Other mutations in Lsm3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02313:Lsm3	APN	6	91,516,088 (GRCm38)	splice site	probably benign
R2172:Lsm3	UTSW	6	91,522,272 (GRCm38)	missense	possibly damaging	0.51
R6552:Lsm3	UTSW	6	91,519,635 (GRCm38)	frame shift	probably null
R6553:Lsm3	UTSW	6	91,519,635 (GRCm38)	frame shift	probably null
R6555:Lsm3	UTSW	6	91,519,635 (GRCm38)	frame shift	probably null
R6588:Lsm3	UTSW	6	91,519,635 (GRCm38)	frame shift	probably null
R6689:Lsm3	UTSW	6	91,519,635 (GRCm38)	frame shift	probably null
R8859:Lsm3	UTSW	6	91,522,270 (GRCm38)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- GTGAAGGCGATGCTTAAGTG -3'
(R):5'- GCCAGAACATAATGGGCTTTCC -3'

Sequencing Primer
(F):5'- TCATAAGCAGTATTGTCACTGGG -3'
(R):5'- AGACTTGCAGGACTCACT -3'

Posted On

2020-01-23