Mutagenetix > Incidental Mutation

Incidental Mutation 'R2237:L3mbtl2'

240495

Institutional Source

Beutler Lab

Gene Symbol

L3mbtl2

Ensembl Gene

ENSMUSG00000022394

Gene Name

L3MBTL2 polycomb repressive complex 1 subunit

Synonyms

4732493N06Rik, m4mbt

MMRRC Submission

040237-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2237 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

81548090-81572516 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 81568531 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 512 (T512S)

Ref Sequence

ENSEMBL: ENSMUSP00000133967 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023029] [ENSMUST00000072910] [ENSMUST00000172568] [ENSMUST00000172748] [ENSMUST00000173598] [ENSMUST00000174229]

AlphaFold

P59178

Predicted Effect

probably benign
Transcript: ENSMUST00000023029
AA Change: T512S

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

SMART Domains

Protein: ENSMUSP00000023029
Gene: ENSMUSG00000022394
AA Change: T512S

Domain	Start	End	E-Value	Type
low complexity region	8	21	N/A	INTRINSIC
low complexity region	35	57	N/A	INTRINSIC
PDB:2W0T\|A	82	110	6e-14	PDB
low complexity region	111	126	N/A	INTRINSIC
MBT	179	283	3.8e-26	SMART
MBT	291	391	9.68e-42	SMART
MBT	402	500	6.87e-24	SMART
MBT	508	604	2.57e-55	SMART
low complexity region	613	632	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000072910

SMART Domains

Protein: ENSMUSP00000072682
Gene: ENSMUSG00000063765

Domain	Start	End	E-Value	Type
low complexity region	10	20	N/A	INTRINSIC
LRRNT	31	65	3.72e-4	SMART
LRR	59	83	1e1	SMART
LRR_TYP	84	107	7.78e-3	SMART
LRR_TYP	108	131	5.81e-2	SMART
LRR_TYP	132	155	3.89e-3	SMART
LRR_TYP	156	179	6.42e-4	SMART
LRR	180	203	1.37e1	SMART
LRR_TYP	204	227	5.5e-3	SMART
LRR	252	275	3.24e0	SMART
LRR	276	299	2.92e1	SMART
LRRCT	309	357	3.81e-2	SMART
low complexity region	358	372	N/A	INTRINSIC
LRRNT	394	428	1.51e-4	SMART
LRR	427	446	1.26e2	SMART
LRR	447	470	3.97e0	SMART
LRR	471	494	1.08e-1	SMART
LRR	496	518	6.23e1	SMART
LRR	519	542	9.48e0	SMART
LRR	544	566	6.96e0	SMART
LRR	568	590	1.14e0	SMART
LRR_TYP	591	614	7.09e-6	SMART
LRR	617	639	3.76e1	SMART
LRR	640	665	6.59e1	SMART
LRRCT	674	722	2.87e-11	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000172568

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172620

Predicted Effect

probably benign
Transcript: ENSMUST00000172748
AA Change: T512S

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

SMART Domains

Protein: ENSMUSP00000134333
Gene: ENSMUSG00000022394
AA Change: T512S

Domain	Start	End	E-Value	Type
low complexity region	8	21	N/A	INTRINSIC
low complexity region	35	57	N/A	INTRINSIC
PDB:2W0T\|A	82	110	1e-13	PDB
low complexity region	111	126	N/A	INTRINSIC
MBT	179	283	3.8e-26	SMART
MBT	291	391	9.68e-42	SMART
MBT	402	500	6.87e-24	SMART
MBT	508	604	2.57e-55	SMART
low complexity region	613	632	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000173598

SMART Domains

Protein: ENSMUSP00000133834
Gene: ENSMUSG00000063765

Domain	Start	End	E-Value	Type
LRR	5	28	1.08e-1	SMART
LRR	30	52	6.23e1	SMART
LRR	53	76	9.48e0	SMART
LRR	78	100	6.96e0	SMART
LRR	102	124	1.14e0	SMART
LRR_TYP	125	148	7.09e-6	SMART
LRR	151	173	3.76e1	SMART
LRR	174	199	6.59e1	SMART
LRRCT	208	256	2.87e-11	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173761

Predicted Effect

probably benign
Transcript: ENSMUST00000174229
AA Change: T512S

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

SMART Domains

Protein: ENSMUSP00000133967
Gene: ENSMUSG00000022394
AA Change: T512S

Domain	Start	End	E-Value	Type
low complexity region	8	21	N/A	INTRINSIC
low complexity region	35	57	N/A	INTRINSIC
PDB:2W0T\|A	82	110	8e-14	PDB
low complexity region	111	126	N/A	INTRINSIC
MBT	179	283	3.8e-26	SMART
MBT	291	391	9.68e-42	SMART
MBT	402	500	6.87e-24	SMART
MBT	508	604	2.57e-55	SMART
low complexity region	613	632	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174401

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174274

Predicted Effect

probably benign
Transcript: ENSMUST00000173898

SMART Domains

Protein: ENSMUSP00000133981
Gene: ENSMUSG00000063765

Domain	Start	End	E-Value	Type
LRR	21	40	1.26e2	SMART
LRR	41	64	3.97e0	SMART
LRR	65	88	1.08e-1	SMART
LRR	90	112	6.23e1	SMART
LRR	113	136	9.48e0	SMART
LRR	138	160	6.96e0	SMART
LRR	162	184	1.14e0	SMART
LRR_TYP	185	208	7.09e-6	SMART

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.3%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit failure of the inner cell mass to form a normal primitive ectoderm capable of gastrulation leading to abnormal embryo development, embryonic growth arrest, and lethality during organogenesis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam18	T	C	8: 25,136,303 (GRCm39)	E406G	probably benign	Het
Alox8	A	C	11: 69,076,597 (GRCm39)	S572A	probably benign	Het
Aoah	G	A	13: 20,978,481 (GRCm39)		probably benign	Het
Arhgap36	G	T	X: 48,582,282 (GRCm39)	V60L	possibly damaging	Het
Arhgef37	T	A	18: 61,637,477 (GRCm39)	Y395F	probably damaging	Het
Bard1	G	A	1: 71,114,135 (GRCm39)	P282L	probably damaging	Het
Brd7	T	A	8: 89,073,541 (GRCm39)	E283V	probably benign	Het
Btbd9	T	C	17: 30,553,302 (GRCm39)	I387V	probably benign	Het
Cacna1a	T	C	8: 85,360,394 (GRCm39)		probably null	Het
Cacna1c	T	C	6: 118,629,704 (GRCm39)	Q1205R	possibly damaging	Het
Camsap2	A	T	1: 136,273,069 (GRCm39)	L36Q	probably damaging	Het
Ccnj	T	C	19: 40,834,219 (GRCm39)	F261L	probably benign	Het
Cd200r4	T	A	16: 44,641,260 (GRCm39)	M1K	probably null	Het
Cdca7l	A	G	12: 117,837,761 (GRCm39)	E237G	probably damaging	Het
Cep128	T	C	12: 91,314,341 (GRCm39)	T146A	probably benign	Het
Clhc1	T	G	11: 29,519,329 (GRCm39)	S379A	probably benign	Het
Dbf4	T	A	5: 8,458,542 (GRCm39)	I158L	possibly damaging	Het
Deup1	A	C	9: 15,486,597 (GRCm39)	I455S	probably damaging	Het
Dlec1	T	C	9: 118,967,259 (GRCm39)		probably null	Het
Eomes	A	G	9: 118,311,359 (GRCm39)	D394G	probably damaging	Het
Epn1	A	G	7: 5,100,601 (GRCm39)	N518S	probably damaging	Het
Espl1	G	A	15: 102,224,004 (GRCm39)	R1185H	probably damaging	Het
Evc2	T	C	5: 37,535,527 (GRCm39)	S401P	probably benign	Het
Fbxw15	A	G	9: 109,384,303 (GRCm39)	S403P	probably damaging	Het
Hsd17b1	G	A	11: 100,970,652 (GRCm39)	V236M	probably damaging	Het
Htatsf1	G	T	X: 56,111,864 (GRCm39)	D642Y	unknown	Het
Iqca1l	A	T	5: 24,753,292 (GRCm39)	N453K	probably benign	Het
Itpripl2	T	C	7: 118,089,294 (GRCm39)	T422A	probably benign	Het
Izumo4	T	C	10: 80,538,664 (GRCm39)	S39P	probably damaging	Het
Kcnh5	T	A	12: 75,054,493 (GRCm39)	M484L	probably benign	Het
Kctd8	T	A	5: 69,267,752 (GRCm39)	I453F	probably damaging	Het
Kif5c	A	G	2: 49,584,020 (GRCm39)	T152A	probably benign	Het
Kntc1	T	C	5: 123,941,733 (GRCm39)	V1809A	possibly damaging	Het
Ltbp1	C	A	17: 75,617,158 (GRCm39)	D1032E	probably benign	Het
Mindy4	T	C	6: 55,278,055 (GRCm39)	F633S	probably damaging	Het
Muc5b	T	G	7: 141,415,826 (GRCm39)	I2924S	probably benign	Het
Nfe2l2	G	A	2: 75,506,898 (GRCm39)	P401S	probably benign	Het
Nid1	T	C	13: 13,675,070 (GRCm39)	V930A	probably benign	Het
Nt5c1b	C	A	12: 10,425,558 (GRCm39)	T309K	probably damaging	Het
Nt5m	A	G	11: 59,743,696 (GRCm39)	K108R	probably benign	Het
Or10v5	T	C	19: 11,805,814 (GRCm39)	D192G	probably damaging	Het
Or13p3	A	G	4: 118,567,192 (GRCm39)	D196G	probably damaging	Het
Osbpl9	T	A	4: 109,013,854 (GRCm39)	Q80L	probably damaging	Het
Osm	A	G	11: 4,188,505 (GRCm39)	N44S	possibly damaging	Het
Pclo	C	T	5: 14,763,952 (GRCm39)	P4142S	unknown	Het
Pdlim2	T	G	14: 70,408,698 (GRCm39)	T173P	probably benign	Het
Pex1	T	C	5: 3,668,915 (GRCm39)		probably null	Het
Phka2	A	G	X: 159,324,408 (GRCm39)	E254G	probably damaging	Het
Pik3cb	A	G	9: 98,923,081 (GRCm39)	Y984H	probably damaging	Het
Plscr2	T	C	9: 92,172,877 (GRCm39)	C179R	probably damaging	Het
Rbpms2	C	A	9: 65,558,893 (GRCm39)	Y183*	probably null	Het
Ryr2	T	A	13: 11,677,146 (GRCm39)	E3235V	probably benign	Het
Sesn3	T	C	9: 14,219,761 (GRCm39)	V50A	probably benign	Het
Siglecf	T	C	7: 43,004,409 (GRCm39)	V246A	probably benign	Het
Sp2	C	T	11: 96,846,762 (GRCm39)	C527Y	probably damaging	Het
Spata31e2	A	T	1: 26,724,241 (GRCm39)	M313K	possibly damaging	Het
Spata4	A	C	8: 55,055,664 (GRCm39)	K185T	probably benign	Het
Spin2c	A	G	X: 152,616,672 (GRCm39)	I162V	probably damaging	Het
Stac	G	A	9: 111,519,190 (GRCm39)		probably benign	Het
Tas1r3	A	T	4: 155,946,675 (GRCm39)	M310K	possibly damaging	Het
Tenm3	G	A	8: 48,795,372 (GRCm39)	P585L	probably damaging	Het
Tnfsf11	A	T	14: 78,537,421 (GRCm39)	S81T	possibly damaging	Het
Topaz1	C	T	9: 122,600,212 (GRCm39)	T984I	probably benign	Het
Ttll2	G	A	17: 7,619,522 (GRCm39)	T135I	probably benign	Het
Ubr4	A	G	4: 139,170,101 (GRCm39)	S1584G	probably damaging	Het
Ugcg	C	T	4: 59,207,798 (GRCm39)	P46S	probably benign	Het
Vmn2r80	G	A	10: 79,004,104 (GRCm39)	E106K	probably damaging	Het
Xpc	T	C	6: 91,475,090 (GRCm39)	H643R	probably damaging	Het
Zan	G	A	5: 137,456,099 (GRCm39)	Q1354*	probably null	Het
Zpld2	A	C	4: 133,929,516 (GRCm39)	M263R	unknown	Het

Other mutations in L3mbtl2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01111:L3mbtl2	APN	15	81,569,099 (GRCm39)	missense	possibly damaging	0.89
IGL01380:L3mbtl2	APN	15	81,555,326 (GRCm39)	missense	possibly damaging	0.75
IGL01479:L3mbtl2	APN	15	81,560,593 (GRCm39)	missense	probably benign	0.05
IGL02943:L3mbtl2	APN	15	81,570,456 (GRCm39)	missense	possibly damaging	0.56
IGL03406:L3mbtl2	APN	15	81,566,194 (GRCm39)	missense	probably damaging	1.00
PIT4431001:L3mbtl2	UTSW	15	81,560,508 (GRCm39)	missense	probably benign	0.32
R0393:L3mbtl2	UTSW	15	81,552,942 (GRCm39)	missense	probably damaging	1.00
R0394:L3mbtl2	UTSW	15	81,552,942 (GRCm39)	missense	probably damaging	1.00
R0449:L3mbtl2	UTSW	15	81,552,942 (GRCm39)	missense	probably damaging	1.00
R0565:L3mbtl2	UTSW	15	81,568,487 (GRCm39)	splice site	probably benign
R1263:L3mbtl2	UTSW	15	81,567,169 (GRCm39)	missense	probably benign	0.00
R1426:L3mbtl2	UTSW	15	81,560,518 (GRCm39)	missense	possibly damaging	0.95
R1542:L3mbtl2	UTSW	15	81,566,352 (GRCm39)	missense	probably null	0.45
R1556:L3mbtl2	UTSW	15	81,566,203 (GRCm39)	missense	probably benign	0.23
R1922:L3mbtl2	UTSW	15	81,559,822 (GRCm39)	missense	probably damaging	1.00
R2135:L3mbtl2	UTSW	15	81,566,215 (GRCm39)	missense	possibly damaging	0.94
R4112:L3mbtl2	UTSW	15	81,566,170 (GRCm39)	missense	possibly damaging	0.90
R4577:L3mbtl2	UTSW	15	81,570,486 (GRCm39)	missense	probably benign
R4583:L3mbtl2	UTSW	15	81,569,107 (GRCm39)	missense	probably damaging	1.00
R4779:L3mbtl2	UTSW	15	81,566,813 (GRCm39)	missense	probably benign
R4787:L3mbtl2	UTSW	15	81,548,175 (GRCm39)	utr 5 prime	probably benign
R5448:L3mbtl2	UTSW	15	81,568,534 (GRCm39)	missense	possibly damaging	0.93
R5776:L3mbtl2	UTSW	15	81,569,072 (GRCm39)	missense	probably damaging	1.00
R6019:L3mbtl2	UTSW	15	81,571,143 (GRCm39)	missense	probably benign	0.00
R6058:L3mbtl2	UTSW	15	81,551,555 (GRCm39)	missense	probably benign
R6259:L3mbtl2	UTSW	15	81,566,128 (GRCm39)	missense	probably damaging	1.00
R7178:L3mbtl2	UTSW	15	81,555,275 (GRCm39)	missense	probably benign	0.00
R7311:L3mbtl2	UTSW	15	81,551,588 (GRCm39)	missense	possibly damaging	0.76
R8797:L3mbtl2	UTSW	15	81,569,615 (GRCm39)	missense	possibly damaging	0.61
R8857:L3mbtl2	UTSW	15	81,571,320 (GRCm39)	missense	unknown
R9035:L3mbtl2	UTSW	15	81,560,744 (GRCm39)	intron	probably benign
R9718:L3mbtl2	UTSW	15	81,572,123 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TCCTGTGTGTTAGGGCCATC -3'
(R):5'- GTCCAGCAAGTATCCACATTAACAG -3'

Sequencing Primer
(F):5'- TGTTAGGGCCATCCAGGAG -3'
(R):5'- CCACATTAACAGTTTTCTAGAAGCCG -3'

Posted On

2014-10-15