Mutagenetix > Incidental Mutation

Incidental Mutation 'R8729:Lsm11'

662660

Institutional Source

Beutler Lab

Gene Symbol

Lsm11

Ensembl Gene

ENSMUSG00000044847

Gene Name

U7 snRNP-specific Sm-like protein LSM11

Synonyms

2210404M20Rik

MMRRC Submission

068577-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8729 (G1)

Quality Score

87.0076

Status

Validated

Chromosome

Chromosomal Location

45819096-45835762 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 45835727 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 5 (E5K)

Ref Sequence

ENSEMBL: ENSMUSP00000117531 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000011398] [ENSMUST00000062458] [ENSMUST00000109254] [ENSMUST00000129820]

AlphaFold

Q8BUV6

Predicted Effect

probably benign
Transcript: ENSMUST00000011398

SMART Domains

Protein: ENSMUSP00000011398
Gene: ENSMUSG00000011254

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
Pfam:Thg1	35	164	1e-53	PFAM
Pfam:Thg1C	167	283	2.6e-47	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000062458
AA Change: E5K

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000057343
Gene: ENSMUSG00000044847
AA Change: E5K

Domain	Start	End	E-Value	Type
low complexity region	7	23	N/A	INTRINSIC
low complexity region	33	51	N/A	INTRINSIC
low complexity region	65	106	N/A	INTRINSIC
Pfam:LSM	159	240	3.6e-8	PFAM
low complexity region	273	306	N/A	INTRINSIC
SCOP:d1b34b_	327	358	2e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000109254

SMART Domains

Protein: ENSMUSP00000104877
Gene: ENSMUSG00000011254

Domain	Start	End	E-Value	Type
Pfam:Thg1	2	104	2.1e-37	PFAM
Pfam:Thg1C	105	235	6.5e-54	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000129820
AA Change: E5K

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000117531
Gene: ENSMUSG00000044847
AA Change: E5K

Domain	Start	End	E-Value	Type
low complexity region	7	23	N/A	INTRINSIC
low complexity region	33	51	N/A	INTRINSIC
low complexity region	65	106	N/A	INTRINSIC
SCOP:d1b34b_	156	225	3e-8	SMART
Blast:Sm	158	359	1e-104	BLAST
SCOP:d1b34b_	327	358	2e-3	SMART

Meta Mutation Damage Score

0.1300

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 97.9%

Validation Efficiency

100% (55/55)

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam4	A	T	12: 81,468,176 (GRCm39)	Y148*	probably null	Het
Ank3	A	G	10: 69,838,428 (GRCm39)	D1812G	possibly damaging	Het
Ankrd17	C	T	5: 90,443,452 (GRCm39)	C405Y	probably benign	Het
Ankrd61	A	G	5: 143,827,803 (GRCm39)	Y391H	probably benign	Het
Calcb	A	C	7: 114,319,428 (GRCm39)	E70A	probably benign	Het
Ccr1	T	C	9: 123,763,831 (GRCm39)	K233R	probably benign	Het
Ccz1	T	C	5: 143,948,310 (GRCm39)	D115G	probably damaging	Het
Col14a1	T	A	15: 55,310,893 (GRCm39)	L1203*	probably null	Het
Csmd2	G	A	4: 128,356,638 (GRCm39)	D1648N		Het
Csn1s1	T	C	5: 87,824,998 (GRCm39)		probably null	Het
Depp1	C	A	6: 116,628,762 (GRCm39)	P35H	probably damaging	Het
Eif2ak3	C	A	6: 70,821,864 (GRCm39)	P52Q	probably benign	Het
Galnt18	T	C	7: 111,119,198 (GRCm39)	E441G	probably null	Het
Gpat2	C	A	2: 127,275,739 (GRCm39)	Q506K	probably damaging	Het
Gramd1a	C	A	7: 30,843,248 (GRCm39)	R20L	possibly damaging	Het
Helz	G	T	11: 107,528,754 (GRCm39)		probably null	Het
Hif1a	A	G	12: 73,990,902 (GRCm39)	N725D	probably damaging	Het
Ighv3-3	A	T	12: 114,160,252 (GRCm39)	W53R	possibly damaging	Het
Kat2a	T	C	11: 100,601,337 (GRCm39)	K331R	probably benign	Het
Klk1b4	T	A	7: 43,856,884 (GRCm39)	F3I	probably damaging	Het
Krt78	T	G	15: 101,855,455 (GRCm39)	Q785H	probably damaging	Het
Luzp2	A	G	7: 54,816,985 (GRCm39)	K145R	probably damaging	Het
Man2b2	T	C	5: 36,973,462 (GRCm39)	T506A	probably benign	Het
Msrb3	A	C	10: 120,687,974 (GRCm39)	C34G	probably null	Het
Muc16	T	C	9: 18,571,346 (GRCm39)	D391G	unknown	Het
Mybpc2	C	T	7: 44,155,611 (GRCm39)	V881M	probably damaging	Het
Myh15	A	G	16: 48,881,851 (GRCm39)	K31R	probably damaging	Het
Ndnf	A	T	6: 65,680,758 (GRCm39)	K346*	probably null	Het
Nfs1	G	A	2: 155,965,727 (GRCm39)	T118I	probably benign	Het
Niban2	T	A	2: 32,799,946 (GRCm39)	L91Q	probably damaging	Het
Nlrp9c	T	G	7: 26,071,428 (GRCm39)	K893N	probably benign	Het
Nmd3	A	T	3: 69,655,682 (GRCm39)	K454N	possibly damaging	Het
Or5ae1	T	C	7: 84,565,523 (GRCm39)	C179R	probably damaging	Het
Pcdhb9	C	A	18: 37,535,639 (GRCm39)	D544E	possibly damaging	Het
Pck1	A	G	2: 172,997,866 (GRCm39)	I312V	probably damaging	Het
Pkd2l2	G	A	18: 34,566,354 (GRCm39)	V522I	probably benign	Het
Polr3c	C	T	3: 96,634,796 (GRCm39)		probably benign	Het
Prkd2	T	A	7: 16,583,052 (GRCm39)	H271Q	probably damaging	Het
Rpp21	A	G	17: 36,566,927 (GRCm39)	S59P	probably benign	Het
Rxfp4	T	A	3: 88,559,305 (GRCm39)	N382I	unknown	Het
Sirt1	A	G	10: 63,156,705 (GRCm39)	F642L	probably damaging	Het
Sp2	T	C	11: 96,852,099 (GRCm39)	D275G	possibly damaging	Het
Speer4a3	A	G	5: 26,158,178 (GRCm39)	V58A	probably damaging	Het
Srp72	C	T	5: 77,142,005 (GRCm39)	T414I	probably benign	Het
Syne1	T	A	10: 5,179,275 (GRCm39)	M4400L	probably benign	Het
Tbx15	A	T	3: 99,220,376 (GRCm39)	H156L	possibly damaging	Het
Tbxas1	G	T	6: 38,978,272 (GRCm39)	M140I	probably benign	Het
Tcof1	G	T	18: 60,962,145 (GRCm39)	P695T	unknown	Het
Tmprss9	A	T	10: 80,726,177 (GRCm39)	M476L	probably benign	Het
Trat1	A	T	16: 48,562,591 (GRCm39)	I73N	probably damaging	Het
Trp53bp2	A	T	1: 182,276,587 (GRCm39)	E856V	probably benign	Het
Ttc28	T	A	5: 111,383,509 (GRCm39)		probably null	Het
Ttn	AC	A	2: 76,749,528 (GRCm39)		probably null	Het
Twf1	T	C	15: 94,479,212 (GRCm39)	N216D	probably benign	Het
Unc80	C	A	1: 66,647,649 (GRCm39)	H1530N	probably benign	Het
Vmn1r235	A	T	17: 21,481,875 (GRCm39)	M67L	probably benign	Het
Vmn2r111	A	T	17: 22,767,239 (GRCm39)	Y753N	probably damaging	Het
Zkscan5	T	A	5: 145,157,071 (GRCm39)	N524K	probably benign	Het

Other mutations in Lsm11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01106:Lsm11	APN	11	45,824,490 (GRCm39)	nonsense	probably null
IGL01633:Lsm11	APN	11	45,824,615 (GRCm39)	missense	probably benign	0.00
IGL02447:Lsm11	APN	11	45,828,191 (GRCm39)	missense	probably damaging	1.00
R1474:Lsm11	UTSW	11	45,824,730 (GRCm39)	missense	probably benign	0.11
R4666:Lsm11	UTSW	11	45,824,640 (GRCm39)	missense	probably damaging	0.98
R5022:Lsm11	UTSW	11	45,835,666 (GRCm39)	missense	probably damaging	1.00
R5023:Lsm11	UTSW	11	45,835,666 (GRCm39)	missense	probably damaging	1.00
R5736:Lsm11	UTSW	11	45,835,594 (GRCm39)	missense	possibly damaging	0.80
R5935:Lsm11	UTSW	11	45,835,445 (GRCm39)	missense	probably benign	0.02
R6861:Lsm11	UTSW	11	45,824,781 (GRCm39)	missense	probably benign	0.00
R7694:Lsm11	UTSW	11	45,824,768 (GRCm39)	missense	probably benign	0.10
R8158:Lsm11	UTSW	11	45,824,824 (GRCm39)	missense	probably benign	0.17
R8396:Lsm11	UTSW	11	45,835,591 (GRCm39)	missense	probably benign	0.44
R8416:Lsm11	UTSW	11	45,824,730 (GRCm39)	missense	probably benign	0.11
R9204:Lsm11	UTSW	11	45,824,789 (GRCm39)	missense	probably benign	0.05

Predicted Primers

PCR Primer
(F):5'- TTCAGGAAGCTCTCGTACTCCG -3'
(R):5'- GCTTTGTTTTCGAATAATGTGTCCC -3'

Sequencing Primer
(F):5'- GTACTCCGCCACGTTGTTGAAG -3'
(R):5'- GTTTTCGAATAATGTGTCCCTACTTG -3'

Posted On

2021-03-08