Mutagenetix > Incidental Mutation

Incidental Mutation 'R6019:L3mbtl2'

478828

Institutional Source

Beutler Lab

Gene Symbol

L3mbtl2

Ensembl Gene

ENSMUSG00000022394

Gene Name

L3MBTL2 polycomb repressive complex 1 subunit

Synonyms

4732493N06Rik, m4mbt

MMRRC Submission

044193-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6019 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

81548090-81572516 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 81571143 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 668 (I668V)

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: I668V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000023029
Gene: ENSMUSG00000022394
AA Change: I668V

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

SMART Domains

Protein: ENSMUSP00000134333
Gene: ENSMUSG00000022394

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: I668V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000133967
Gene: ENSMUSG00000022394
AA Change: I668V

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: ENSMUST00000174274

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174401

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

Meta Mutation Damage Score

0.0803

Coding Region Coverage

1x: 99.9%
3x: 99.4%
10x: 97.2%
20x: 91.1%

Validation Efficiency

96% (81/84)

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcf3	C	T	16: 20,371,201 (GRCm39)	H436Y	possibly damaging	Het
Acad10	A	T	5: 121,772,864 (GRCm39)	H472Q	possibly damaging	Het
Ano8	G	A	8: 71,935,024 (GRCm39)	R393C	probably damaging	Het
Arhgap18	T	A	10: 26,736,646 (GRCm39)	V163E	probably damaging	Het
AW209491	C	T	13: 14,812,365 (GRCm39)	A406V	probably benign	Het
Brix1	C	T	15: 10,476,675 (GRCm39)	R267H	probably benign	Het
Cacng5	T	C	11: 107,775,214 (GRCm39)	M52V	probably benign	Het
Casz1	T	C	4: 149,031,495 (GRCm39)	C1249R	probably damaging	Het
Cenpj	C	T	14: 56,772,272 (GRCm39)	S1086N	probably benign	Het
Chi3l1	T	C	1: 134,117,310 (GRCm39)	F367S	probably benign	Het
Copg2	A	T	6: 30,787,868 (GRCm39)	I610N	possibly damaging	Het
Cpa6	T	C	1: 10,665,868 (GRCm39)	K57E	possibly damaging	Het
D5Ertd579e	C	T	5: 36,787,036 (GRCm39)	A111T	possibly damaging	Het
Dgat2	A	G	7: 98,803,838 (GRCm39)	M361T	probably benign	Het
Dnm3	G	T	1: 161,962,070 (GRCm39)	F46L	probably damaging	Het
Dph7	T	A	2: 24,853,552 (GRCm39)	C122*	probably null	Het
Dspp	A	T	5: 104,325,905 (GRCm39)	D756V	unknown	Het
Efcab3	T	C	11: 104,933,728 (GRCm39)		probably null	Het
Ep300	T	A	15: 81,525,583 (GRCm39)	M1469K	unknown	Het
Fsip2	T	C	2: 82,818,283 (GRCm39)	I4672T	possibly damaging	Het
Gapdh	A	T	6: 125,139,996 (GRCm39)	L67*	probably null	Het
Gpr75	A	G	11: 30,841,640 (GRCm39)	R182G	probably benign	Het
Gsr	G	T	8: 34,183,835 (GRCm39)	A366S	probably damaging	Het
Gypc	A	G	18: 32,663,248 (GRCm39)	I33T	probably damaging	Het
Hapln1	A	G	13: 89,756,219 (GRCm39)	D341G	probably benign	Het
Hnrnpd	A	G	5: 100,115,095 (GRCm39)	S148P	probably benign	Het
Hydin	A	T	8: 111,293,252 (GRCm39)	T3450S	probably benign	Het
Kif20b	T	C	19: 34,927,864 (GRCm39)	V1002A	probably benign	Het
Kif5c	T	C	2: 49,625,521 (GRCm39)	V597A	probably benign	Het
Kntc1	A	G	5: 123,900,579 (GRCm39)	T226A	probably benign	Het
Krt75	C	A	15: 101,482,158 (GRCm39)	V37L	probably benign	Het
Lrp1b	G	A	2: 41,192,982 (GRCm39)	A480V	probably damaging	Het
Lrp1b	T	A	2: 41,366,821 (GRCm39)	D485V	probably damaging	Het
Lrrc37a	T	C	11: 103,347,422 (GRCm39)	H3091R	unknown	Het
Msi1	A	G	5: 115,589,550 (GRCm39)	Y361C	probably damaging	Het
Mtus1	G	T	8: 41,536,077 (GRCm39)	N546K	probably benign	Het
Mup17	T	A	4: 61,511,936 (GRCm39)	T113S	probably benign	Het
Myh11	T	A	16: 14,023,938 (GRCm39)	D1479V	probably damaging	Het
Ncor1	C	T	11: 62,263,987 (GRCm39)	E198K	probably benign	Het
Nrde2	A	G	12: 100,098,501 (GRCm39)	V722A	probably benign	Het
Or13a28	T	C	7: 140,217,925 (GRCm39)	F104L	probably benign	Het
Or51f23	C	T	7: 102,453,491 (GRCm39)	R269*	probably null	Het
Or5ac24	C	T	16: 59,165,798 (GRCm39)	D89N	possibly damaging	Het
Otog	A	G	7: 45,938,374 (GRCm39)	M2028V	probably benign	Het
Paox	T	A	7: 139,711,655 (GRCm39)	V169E	probably damaging	Het
Pcsk9	T	G	4: 106,314,073 (GRCm39)	D174A	probably benign	Het
Pde4b	A	G	4: 102,427,966 (GRCm39)	E41G	possibly damaging	Het
Pip4k2c	A	G	10: 127,034,943 (GRCm39)	I419T	probably damaging	Het
Plekhg3	G	T	12: 76,624,715 (GRCm39)	E1186*	probably null	Het
Pole	C	A	5: 110,472,380 (GRCm39)	P1548T	probably benign	Het
Pole	C	T	5: 110,472,381 (GRCm39)	P1548L	probably benign	Het
Polq	A	G	16: 36,882,126 (GRCm39)	E1430G	probably damaging	Het
Potefam3c	A	T	8: 69,881,966 (GRCm39)	C337S	probably benign	Het
Pramel47	G	A	5: 95,488,072 (GRCm39)	S2N	probably damaging	Het
Ptgr2	T	C	12: 84,344,920 (GRCm39)	S98P	probably damaging	Het
Ralgapa1	A	G	12: 55,730,827 (GRCm39)	Y1903H	possibly damaging	Het
Rasgrp1	T	C	2: 117,122,376 (GRCm39)	D338G	probably damaging	Het
Rif1	C	G	2: 51,985,856 (GRCm39)	L614V	probably damaging	Het
Rnase13	C	T	14: 52,159,860 (GRCm39)	C93Y	probably damaging	Het
Rnd2	C	T	11: 101,359,825 (GRCm39)	L57F	probably damaging	Het
S100z	T	A	13: 95,613,934 (GRCm39)	M59L	probably benign	Het
Ska1	T	A	18: 74,332,992 (GRCm39)	D142V	probably benign	Het
Slc16a3	T	C	11: 120,847,931 (GRCm39)		probably null	Het
Snd1	T	C	6: 28,880,233 (GRCm39)	V669A	probably benign	Het
Snrpd3	A	T	10: 75,368,029 (GRCm39)	T49S	probably damaging	Het
Sort1	T	C	3: 108,264,549 (GRCm39)	L856P	possibly damaging	Het
Srek1ip1	T	A	13: 104,970,830 (GRCm39)		probably null	Het
Ssrp1	T	C	2: 84,875,796 (GRCm39)	S552P	probably damaging	Het
Stab2	A	G	10: 86,838,886 (GRCm39)	V60A	probably benign	Het
Stard9	GCCC	GCC	2: 120,524,196 (GRCm39)		probably null	Het
Tll1	A	C	8: 64,494,525 (GRCm39)	H743Q	possibly damaging	Het
Tpo	G	T	12: 30,144,980 (GRCm39)	R590S	possibly damaging	Het
Trbv12-1	A	T	6: 41,090,780 (GRCm39)	T51S	probably benign	Het
Trbv30	C	T	6: 41,258,708 (GRCm39)	A40V	probably benign	Het
Tulp4	T	A	17: 6,283,490 (GRCm39)	V1173E	possibly damaging	Het
Upk1a	A	T	7: 30,311,810 (GRCm39)		probably null	Het
Vinac1	T	C	2: 128,879,610 (GRCm39)	Q772R	probably benign	Het
Vmn1r199	A	G	13: 22,566,769 (GRCm39)	D21G	possibly damaging	Het
Vmn2r7	T	C	3: 64,623,643 (GRCm39)	T317A	probably damaging	Het
Wdfy3	A	G	5: 101,997,289 (GRCm39)	V3112A	probably damaging	Het
Zbtb8os	T	C	4: 129,234,542 (GRCm39)	V40A	possibly damaging	Het
Zfp1002	T	A	2: 150,097,132 (GRCm39)	H99L	probably damaging	Het
Zwint	A	G	10: 72,492,685 (GRCm39)	K108E	possibly damaging	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
R2237:L3mbtl2	UTSW	15	81,568,531 (GRCm39)	missense	probably benign
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
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'- AGTTTCTCACCAGCTGTGCC -3'
(R):5'- ACCAGTCTAGTTTTCCAGTGTG -3'

Sequencing Primer
(F):5'- TGTGCCTGCAGCCTTGAG -3'
(R):5'- GGCTGTCCATTCACTGCACAG -3'

Posted On

2017-06-26