Mutagenetix > Incidental Mutation

Incidental Mutation 'R0826:Lsm14a'

78230

Institutional Source

Beutler Lab

Gene Symbol

Lsm14a

Ensembl Gene

ENSMUSG00000066568

Gene Name

LSM14A mRNA processing body assembly factor

Synonyms

2700023B17Rik, Tral

MMRRC Submission

039006-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.854) question?

Stock #

R0826 (G1)

Quality Score

220

Status

Validated

Chromosome

Chromosomal Location

34043569-34089134 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

C to A at 34070470 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000145972 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000085585] [ENSMUST00000133046] [ENSMUST00000155256] [ENSMUST00000206388]

AlphaFold

Q8K2F8

Predicted Effect

probably benign
Transcript: ENSMUST00000085585

SMART Domains

Protein: ENSMUSP00000082723
Gene: ENSMUSG00000066568

Domain	Start	End	E-Value	Type
LSM14	1	98	1.15e-57	SMART
low complexity region	129	140	N/A	INTRINSIC
low complexity region	268	287	N/A	INTRINSIC
FDF	289	399	6.14e-35	SMART
low complexity region	403	428	N/A	INTRINSIC
low complexity region	434	450	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000133046

SMART Domains

Protein: ENSMUSP00000119461
Gene: ENSMUSG00000066568

Domain	Start	End	E-Value	Type
LSM14	1	62	1.33e-12	SMART
low complexity region	93	104	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000155256

SMART Domains

Protein: ENSMUSP00000118766
Gene: ENSMUSG00000066568

Domain	Start	End	E-Value	Type
LSM14	1	98	1.15e-57	SMART
low complexity region	129	140	N/A	INTRINSIC
low complexity region	209	228	N/A	INTRINSIC
Pfam:FDF	230	287	7.5e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000205519

Predicted Effect

probably benign
Transcript: ENSMUST00000206388

Coding Region Coverage

1x: 99.5%
3x: 98.6%
10x: 95.7%
20x: 86.3%

Validation Efficiency

100% (69/69)

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; 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, Mar 2008]

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930433I11Rik	A	T	7: 40,642,480 (GRCm39)	T141S	probably benign	Het
4931406C07Rik	T	C	9: 15,203,292 (GRCm39)		probably null	Het
Adamts16	T	A	13: 70,916,811 (GRCm39)	D727V	possibly damaging	Het
Anxa10	A	C	8: 62,529,318 (GRCm39)	L133*	probably null	Het
Arfgef3	G	A	10: 18,465,414 (GRCm39)	T2143I	probably damaging	Het
Arhgef17	T	C	7: 100,579,950 (GRCm39)	T333A	probably benign	Het
Arhgef40	A	G	14: 52,238,450 (GRCm39)	T1310A	probably benign	Het
Atg10	C	T	13: 91,084,705 (GRCm39)		probably null	Het
Atp1a1	A	G	3: 101,492,169 (GRCm39)	F569S	probably damaging	Het
Baiap3	A	G	17: 25,464,203 (GRCm39)	W849R	possibly damaging	Het
Baz1a	A	T	12: 54,977,097 (GRCm39)	Y9*	probably null	Het
Catsperg2	C	T	7: 29,405,049 (GRCm39)	D702N	possibly damaging	Het
Clasrp	G	T	7: 19,318,226 (GRCm39)		probably benign	Het
Col11a1	G	A	3: 113,932,414 (GRCm39)	R113H	unknown	Het
Col19a1	T	C	1: 24,565,467 (GRCm39)	K288R	unknown	Het
Ctnnbl1	C	T	2: 157,641,337 (GRCm39)		probably benign	Het
Cttnbp2	A	G	6: 18,405,177 (GRCm39)		probably benign	Het
Dnah1	T	A	14: 31,025,864 (GRCm39)	I828F	probably benign	Het
Dpf2	G	T	19: 5,957,155 (GRCm39)	Q23K	probably damaging	Het
Dsc3	T	A	18: 20,114,229 (GRCm39)	I342F	probably damaging	Het
Enpp3	A	G	10: 24,671,614 (GRCm39)	L460P	probably damaging	Het
Epb41l2	A	G	10: 25,380,090 (GRCm39)	E871G	probably damaging	Het
Exoc2	T	C	13: 31,040,780 (GRCm39)		probably null	Het
Fam243	G	A	16: 92,118,075 (GRCm39)	S71L	probably benign	Het
Fpr-rs7	A	T	17: 20,333,888 (GRCm39)	S201T	probably benign	Het
Gtf2ird2	T	C	5: 134,245,797 (GRCm39)	F685S	probably damaging	Het
Helz2	C	T	2: 180,882,646 (GRCm39)	R49H	possibly damaging	Het
Ica1	A	G	6: 8,667,375 (GRCm39)		probably benign	Het
Ift56	A	G	6: 38,402,049 (GRCm39)		probably null	Het
Iqca1	C	A	1: 90,070,453 (GRCm39)	G133V	probably null	Het
Kif21a	A	G	15: 90,881,744 (GRCm39)		probably null	Het
Lamb3	T	A	1: 193,013,216 (GRCm39)	C480*	probably null	Het
Lamc2	A	G	1: 153,027,828 (GRCm39)	S199P	probably damaging	Het
Lrfn3	T	C	7: 30,059,676 (GRCm39)	N183S	probably benign	Het
Mest	C	A	6: 30,742,813 (GRCm39)	H146Q	probably damaging	Het
Mmp27	T	C	9: 7,579,010 (GRCm39)	V339A	probably damaging	Het
Myo16	T	C	8: 10,426,285 (GRCm39)		probably benign	Het
Myoz1	C	T	14: 20,703,679 (GRCm39)		probably benign	Het
Nlrp5	A	G	7: 23,117,133 (GRCm39)	M286V	probably benign	Het
Optc	T	C	1: 133,832,893 (GRCm39)	K69R	probably benign	Het
Or13c3	C	T	4: 52,855,566 (GRCm39)	V316I	probably benign	Het
Or2y1c	A	T	11: 49,361,158 (GRCm39)	Y60F	probably damaging	Het
Or4a77	A	C	2: 89,487,181 (GRCm39)	N201K	possibly damaging	Het
Or8g18	C	T	9: 39,149,725 (GRCm39)	M1I	probably null	Het
Osbpl3	A	T	6: 50,323,357 (GRCm39)	M242K	probably damaging	Het
Pdzd9	T	A	7: 120,267,624 (GRCm39)	S64C	probably damaging	Het
Pik3cg	A	G	12: 32,245,672 (GRCm39)	S859P	possibly damaging	Het
Ppp1r12a	G	T	10: 108,066,414 (GRCm39)	A202S	possibly damaging	Het
Rab32	A	T	10: 10,426,611 (GRCm39)	F112I	possibly damaging	Het
Ror2	T	C	13: 53,267,253 (GRCm39)	Y394C	probably damaging	Het
Rtn3	A	G	19: 7,445,245 (GRCm39)		probably benign	Het
Sbk1	C	T	7: 125,891,007 (GRCm39)	P147L	probably damaging	Het
Shpk	T	A	11: 73,094,857 (GRCm39)	M91K	probably damaging	Het
Slco6c1	C	T	1: 97,055,826 (GRCm39)	S25N	probably benign	Het
Snx2	A	T	18: 53,327,594 (GRCm39)	T107S	probably benign	Het
Tle2	G	A	10: 81,422,148 (GRCm39)	V397I	possibly damaging	Het
Tmem131l	T	C	3: 83,805,724 (GRCm39)	D1573G	probably damaging	Het
Tnfrsf8	A	G	4: 145,011,708 (GRCm39)		probably benign	Het
Tpmt	T	C	13: 47,194,965 (GRCm39)	E36G	probably benign	Het
Trim30c	T	A	7: 104,032,688 (GRCm39)	T257S	probably benign	Het
Tsc2	A	G	17: 24,815,932 (GRCm39)	L150P	probably benign	Het
Upf3a	G	C	8: 13,848,338 (GRCm39)	G378A	possibly damaging	Het
Yeats2	A	T	16: 20,011,966 (GRCm39)	K514*	probably null	Het
Zfp11	A	G	5: 129,734,589 (GRCm39)	Y291H	probably benign	Het
Zfp457	T	C	13: 67,441,378 (GRCm39)	D399G	possibly damaging	Het

Other mutations in Lsm14a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01564:Lsm14a	APN	7	34,088,780 (GRCm39)	intron	probably benign
IGL02259:Lsm14a	APN	7	34,070,558 (GRCm39)	missense	probably damaging	1.00
IGL02940:Lsm14a	APN	7	34,070,596 (GRCm39)	nonsense	probably null
baluchistan	UTSW	7	34,052,826 (GRCm39)	nonsense	probably null
beast	UTSW	7	34,074,799 (GRCm39)	missense	probably damaging	1.00
R0234:Lsm14a	UTSW	7	34,065,042 (GRCm39)	missense	probably damaging	1.00
R0234:Lsm14a	UTSW	7	34,065,042 (GRCm39)	missense	probably damaging	1.00
R1344:Lsm14a	UTSW	7	34,052,982 (GRCm39)	missense	probably damaging	1.00
R1641:Lsm14a	UTSW	7	34,050,799 (GRCm39)	missense	probably damaging	0.99
R1667:Lsm14a	UTSW	7	34,065,079 (GRCm39)	missense	possibly damaging	0.93
R2135:Lsm14a	UTSW	7	34,070,609 (GRCm39)	missense	probably damaging	1.00
R2331:Lsm14a	UTSW	7	34,056,915 (GRCm39)	missense	probably benign
R3709:Lsm14a	UTSW	7	34,053,204 (GRCm39)	missense	probably damaging	0.99
R3710:Lsm14a	UTSW	7	34,053,204 (GRCm39)	missense	probably damaging	0.99
R4304:Lsm14a	UTSW	7	34,056,858 (GRCm39)	critical splice donor site	probably null
R4998:Lsm14a	UTSW	7	34,074,799 (GRCm39)	missense	probably damaging	1.00
R5304:Lsm14a	UTSW	7	34,053,154 (GRCm39)	missense	possibly damaging	0.58
R5383:Lsm14a	UTSW	7	34,088,789 (GRCm39)	missense	possibly damaging	0.48
R5639:Lsm14a	UTSW	7	34,052,935 (GRCm39)	missense	probably damaging	1.00
R6370:Lsm14a	UTSW	7	34,056,906 (GRCm39)	missense	probably benign	0.17
R7443:Lsm14a	UTSW	7	34,053,263 (GRCm39)	missense	probably benign
R7559:Lsm14a	UTSW	7	34,052,826 (GRCm39)	nonsense	probably null
R7812:Lsm14a	UTSW	7	34,088,301 (GRCm39)	intron	probably benign
R8115:Lsm14a	UTSW	7	34,074,662 (GRCm39)	missense	probably benign	0.21
R9273:Lsm14a	UTSW	7	34,088,225 (GRCm39)	intron	probably benign
R9729:Lsm14a	UTSW	7	34,088,898 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGACACCCGTTTTCAAGACAAGATCC -3'
(R):5'- AGCAGTTACTTTATGAACTTAGGCCGC -3'

Sequencing Primer
(F):5'- GAGGATTACCTCAAACTTTTCCTAC -3'
(R):5'- agttcaagtcccagcacc -3'

Posted On

2013-10-16