Mutagenetix > Incidental Mutation

Incidental Mutation 'R6259:L3mbtl2'

506575

Institutional Source

Beutler Lab

Gene Symbol

L3mbtl2

Ensembl Gene

ENSMUSG00000022394

Gene Name

L3MBTL2 polycomb repressive complex 1 subunit

Synonyms

4732493N06Rik, m4mbt

MMRRC Submission

044376-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6259 (G1)

Quality Score

124.008

Status

Validated

Chromosome

Chromosomal Location

81548090-81572516 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 81566128 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 317 (E317G)

Ref Sequence

ENSEMBL: ENSMUSP00000133967 (fasta)

Gene Model

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

AlphaFold

P59178

Predicted Effect

probably damaging
Transcript: ENSMUST00000023029
AA Change: E317G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000023029
Gene: ENSMUSG00000022394
AA Change: E317G

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 damaging
Transcript: ENSMUST00000172568
AA Change: E317G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172620

Predicted Effect

probably damaging
Transcript: ENSMUST00000172748
AA Change: E317G

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000134333
Gene: ENSMUSG00000022394
AA Change: E317G

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 damaging
Transcript: ENSMUST00000174229
AA Change: E317G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000133967
Gene: ENSMUSG00000022394
AA Change: E317G

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

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

Predicted Effect

probably benign
Transcript: ENSMUST00000174497

SMART Domains

Protein: ENSMUSP00000133549
Gene: ENSMUSG00000022394

Domain	Start	End	E-Value	Type
Pfam:MBT	12	85	1.1e-21	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174274

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174401

Meta Mutation Damage Score

0.6341

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 96.0%

Validation Efficiency

99% (74/75)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730507C01Rik	C	A	12: 18,584,120 (GRCm39)	N393K	probably benign	Het
Acap3	A	T	4: 155,980,575 (GRCm39)	I19F	possibly damaging	Het
Acsbg3	A	G	17: 57,184,513 (GRCm39)	Y96C	probably benign	Het
Adamts5	C	T	16: 85,696,641 (GRCm39)	R172H	probably benign	Het
Adgra3	A	G	5: 50,156,483 (GRCm39)	F416L	possibly damaging	Het
Amy1	T	C	3: 113,363,059 (GRCm39)	D96G	possibly damaging	Het
Ank2	A	G	3: 126,810,635 (GRCm39)	S484P	probably benign	Het
Arsa	A	G	15: 89,359,724 (GRCm39)	C68R	probably damaging	Het
Asprv1	A	G	6: 86,605,361 (GRCm39)	Y69C	probably benign	Het
Ass1	A	G	2: 31,378,654 (GRCm39)	E162G	possibly damaging	Het
Atf7	G	T	15: 102,455,673 (GRCm39)	N230K	probably damaging	Het
Atp10b	A	G	11: 43,092,065 (GRCm39)	M367V	probably benign	Het
Atp11b	A	G	3: 35,861,050 (GRCm39)	Y179C	probably damaging	Het
BC004004	A	T	17: 29,517,686 (GRCm39)	Q300L	possibly damaging	Het
Bglap3	A	T	3: 88,276,067 (GRCm39)	I95N	probably damaging	Het
Cacna1h	T	C	17: 25,616,630 (GRCm39)		probably null	Het
Caskin2	C	T	11: 115,691,279 (GRCm39)	G1141D	probably damaging	Het
Clcn4	G	A	7: 7,294,529 (GRCm39)	R351W	possibly damaging	Het
Col11a1	T	C	3: 113,932,096 (GRCm39)	C89R	probably benign	Het
Csrp1	T	G	1: 135,667,252 (GRCm39)		probably null	Het
Cwf19l2	T	C	9: 3,458,879 (GRCm39)	I776T	probably damaging	Het
Cyp2b19	A	T	7: 26,470,817 (GRCm39)	Q486L	possibly damaging	Het
Cyp2j9	T	A	4: 96,472,243 (GRCm39)	Y165F	probably benign	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Dennd1c	G	A	17: 57,374,104 (GRCm39)	R522C	probably damaging	Het
Dmgdh	T	C	13: 93,888,816 (GRCm39)	V818A	probably benign	Het
Dst	T	A	1: 34,221,477 (GRCm39)	V2427E	probably benign	Het
Duox1	C	T	2: 122,175,264 (GRCm39)	T1354M	probably benign	Het
Ehbp1	A	G	11: 22,235,684 (GRCm39)		probably benign	Het
Epc2	T	A	2: 49,378,866 (GRCm39)		probably null	Het
Eya2	T	C	2: 165,558,019 (GRCm39)	V205A	probably benign	Het
Fat4	A	G	3: 39,061,395 (GRCm39)	H4326R	probably benign	Het
Gaa	C	A	11: 119,171,997 (GRCm39)	A700D	probably benign	Het
Gm10100	G	T	10: 77,562,498 (GRCm39)	C60F	possibly damaging	Het
Hhip	T	A	8: 80,699,033 (GRCm39)	R678W	probably damaging	Het
Il21r	T	A	7: 125,229,891 (GRCm39)	I266K	possibly damaging	Het
Itgb4	C	T	11: 115,874,983 (GRCm39)	R447W	probably benign	Het
Kif26b	T	C	1: 178,744,970 (GRCm39)	S1689P	probably damaging	Het
Lgr6	C	T	1: 134,921,748 (GRCm39)	A199T	probably damaging	Het
Lratd1	T	A	12: 14,200,646 (GRCm39)	D27V	probably damaging	Het
Lrr1	A	G	12: 69,221,589 (GRCm39)	N244D	probably damaging	Het
Lrrk2	A	T	15: 91,586,450 (GRCm39)	H422L	probably benign	Het
Map4k5	A	G	12: 69,899,514 (GRCm39)	S46P	probably damaging	Het
Ngf	A	G	3: 102,417,113 (GRCm39)		probably benign	Het
Nploc4	T	C	11: 120,276,691 (GRCm39)	I452V	probably benign	Het
Oas1d	T	A	5: 121,057,244 (GRCm39)	Y283*	probably null	Het
Or52h1	A	T	7: 103,829,261 (GRCm39)	M118K	possibly damaging	Het
Or56b35	A	T	7: 104,963,264 (GRCm39)	I18F	probably benign	Het
Or5b109	A	G	19: 13,211,785 (GRCm39)	H57R	probably damaging	Het
Or5l13	T	C	2: 87,779,779 (GRCm39)	N266S	probably benign	Het
Pdzrn4	A	T	15: 92,655,562 (GRCm39)	E485V	probably damaging	Het
Peg3	A	G	7: 6,712,810 (GRCm39)	V804A	probably damaging	Het
Piezo2	T	A	18: 63,250,749 (GRCm39)	Y450F	possibly damaging	Het
Pprc1	T	A	19: 46,052,849 (GRCm39)	V789E	probably damaging	Het
Prcc	A	G	3: 87,769,454 (GRCm39)	M436T	possibly damaging	Het
Prepl	A	T	17: 85,377,859 (GRCm39)	V507D	probably damaging	Het
Rag1	T	A	2: 101,474,797 (GRCm39)	N115I	possibly damaging	Het
Rap1gap	T	C	4: 137,409,068 (GRCm39)		probably null	Het
Reln	A	C	5: 22,265,331 (GRCm39)	F454V	probably damaging	Het
Slc39a11	A	T	11: 113,354,780 (GRCm39)	S150T	probably benign	Het
Slc45a1	T	A	4: 150,722,817 (GRCm39)	I356F	possibly damaging	Het
Snrnp200	G	A	2: 127,060,343 (GRCm39)	G529D	possibly damaging	Het
Stkld1	A	T	2: 26,839,393 (GRCm39)	D353V	possibly damaging	Het
Susd2	T	C	10: 75,473,880 (GRCm39)	S572G	probably damaging	Het
Synrg	T	A	11: 83,899,484 (GRCm39)	D563E	probably damaging	Het
Tmem131	C	T	1: 36,858,209 (GRCm39)	V713I	probably benign	Het
Tnfrsf8	A	G	4: 145,004,094 (GRCm39)		probably null	Het
Trim26	C	T	17: 37,167,110 (GRCm39)	A267V	probably benign	Het
Trpm1	T	G	7: 63,918,226 (GRCm39)	F522C	possibly damaging	Het
Uggt1	T	C	1: 36,273,997 (GRCm39)	I29V	probably benign	Het
Unc5d	C	T	8: 29,156,820 (GRCm39)	M808I	probably benign	Het
Vmn2r108	T	A	17: 20,683,371 (GRCm39)	D611V	possibly damaging	Het
Vps13a	A	C	19: 16,664,534 (GRCm39)	Y1436*	probably null	Het
Wdfy3	C	T	5: 102,020,831 (GRCm39)	R2491Q	possibly damaging	Het
Zfp518a	G	T	19: 40,901,225 (GRCm39)	V385F	probably benign	Het
Zfp541	C	T	7: 15,829,451 (GRCm39)	A1222V	probably benign	Het
Zfp709	TCGACG	TCG	8: 72,644,552 (GRCm39)		probably benign	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
R6019:L3mbtl2	UTSW	15	81,571,143 (GRCm39)	missense	probably benign	0.00
R6058:L3mbtl2	UTSW	15	81,551,555 (GRCm39)	missense	probably benign
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'- CCTGTCCTGACCCTTAAAACAAAG -3'
(R):5'- GGGGACTCCACATATGGCAC -3'

Sequencing Primer
(F):5'- CTGGAACTCACTTTGTAGACCAGG -3'
(R):5'- TATGGCACCAGAAGTCGTCATC -3'

Posted On

2018-03-15