Mutagenetix > Incidental Mutation

Incidental Mutation 'R8857:L3mbtl2'

675435

Institutional Source

Beutler Lab

Gene Symbol

L3mbtl2

Ensembl Gene

ENSMUSG00000022394

Gene Name

L3MBTL2 polycomb repressive complex 1 subunit

Synonyms

4732493N06Rik, m4mbt

MMRRC Submission

068677-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8857 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

81548090-81572516 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 81571320 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 709 (F709L)

Ref Sequence

ENSEMBL: ENSMUSP00000134333 (fasta)

Gene Model

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

AlphaFold

P59178

Predicted Effect

probably benign
Transcript: ENSMUST00000023029

SMART Domains

Protein: ENSMUSP00000023029
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	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

unknown
Transcript: ENSMUST00000172748
AA Change: F709L

SMART Domains

Protein: ENSMUSP00000134333
Gene: ENSMUSG00000022394
AA Change: F709L

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

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: ENSMUST00000174229

SMART Domains

Protein: ENSMUSP00000133967
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	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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

98% (65/66)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim1	G	A	19: 57,119,287 (GRCm39)	L266F	possibly damaging	Het
Adgrf3	A	T	5: 30,402,065 (GRCm39)	C654*	probably null	Het
Adgrl1	C	A	8: 84,657,657 (GRCm39)	A421D	probably benign	Het
Adra1b	C	G	11: 43,727,092 (GRCm39)		probably benign	Het
Apba2	T	A	7: 64,399,939 (GRCm39)	V710E	possibly damaging	Het
Arhgef5	T	C	6: 43,264,558 (GRCm39)	V1523A	probably damaging	Het
AW551984	G	C	9: 39,511,831 (GRCm39)	A60G	probably damaging	Het
Bdh1	A	T	16: 31,265,450 (GRCm39)	T42S	probably benign	Het
C130073F10Rik	G	A	4: 101,747,555 (GRCm39)	P158L	possibly damaging	Het
Cacna2d4	A	T	6: 119,248,909 (GRCm39)	K457*	probably null	Het
Chd3	G	A	11: 69,253,146 (GRCm39)	P223L	probably benign	Het
Cnst	T	C	1: 179,437,878 (GRCm39)	S481P	probably damaging	Het
Col6a3	T	A	1: 90,703,485 (GRCm39)	K3027N	unknown	Het
Csf2rb2	T	C	15: 78,178,613 (GRCm39)	D111G	probably null	Het
Disc1	A	C	8: 125,891,870 (GRCm39)	E641A	probably damaging	Het
Fbln5	C	A	12: 101,726,990 (GRCm39)	C320F	probably damaging	Het
Fbn2	G	A	18: 58,286,933 (GRCm39)	T242I	probably damaging	Het
Frem1	T	A	4: 82,922,280 (GRCm39)		probably benign	Het
Gpsm1	G	C	2: 26,230,457 (GRCm39)	G469A	possibly damaging	Het
Hic1	A	G	11: 75,056,228 (GRCm39)	I887T	probably benign	Het
Hltf	T	C	3: 20,159,825 (GRCm39)	V692A	probably damaging	Het
Hsd17b13	A	G	5: 104,125,063 (GRCm39)	L40P	probably damaging	Het
Hydin	T	C	8: 111,298,587 (GRCm39)		probably null	Het
Irf2bpl	T	C	12: 86,929,359 (GRCm39)	Y438C	possibly damaging	Het
Itgb4	A	T	11: 115,871,853 (GRCm39)	N219I	probably benign	Het
Knop1	T	C	7: 118,451,949 (GRCm39)	K257E		Het
Krtap19-5	A	T	16: 88,693,139 (GRCm39)	F58I	unknown	Het
Map1a	G	A	2: 121,138,098 (GRCm39)	R2924H	probably damaging	Het
Mfsd13a	A	G	19: 46,356,567 (GRCm39)	D224G	probably benign	Het
Mme	A	T	3: 63,256,070 (GRCm39)	N510I	probably damaging	Het
Morc2a	T	A	11: 3,627,484 (GRCm39)		probably null	Het
Mptx2	T	C	1: 173,102,452 (GRCm39)	E79G	probably benign	Het
Nutm1	A	G	2: 112,081,523 (GRCm39)	M380T	probably benign	Het
Or5ac25	A	T	16: 59,182,041 (GRCm39)	I180N	probably damaging	Het
P2rx1	A	G	11: 72,903,197 (GRCm39)		probably benign	Het
Padi4	A	G	4: 140,501,472 (GRCm39)	I7T	probably damaging	Het
Phf20l1	T	C	15: 66,513,781 (GRCm39)	S1013P	probably benign	Het
Plb1	T	C	5: 32,521,556 (GRCm39)	V1469A	unknown	Het
Polr1g	C	T	7: 19,093,355 (GRCm39)		probably benign	Het
Prkab1	T	C	5: 116,158,147 (GRCm39)	N150D	probably damaging	Het
Qsox1	A	G	1: 155,658,333 (GRCm39)	V412A	possibly damaging	Het
Rai1	A	G	11: 60,077,393 (GRCm39)	S486G	probably benign	Het
Rev3l	T	A	10: 39,670,965 (GRCm39)	Y170*	probably null	Het
Rims2	T	A	15: 39,543,044 (GRCm39)	M1426K	possibly damaging	Het
Selenoi	C	A	5: 30,461,160 (GRCm39)	S132*	probably null	Het
Shtn1	T	C	19: 58,978,800 (GRCm39)	I498M	probably damaging	Het
Sin3b	T	C	8: 73,483,523 (GRCm39)	M970T	probably benign	Het
Slc17a8	A	G	10: 89,427,022 (GRCm39)	F360L	probably damaging	Het
Slc7a11	A	G	3: 50,393,305 (GRCm39)	Y113H	probably damaging	Het
Spast	T	A	17: 74,675,938 (GRCm39)	M327K	possibly damaging	Het
Sphkap	T	A	1: 83,258,288 (GRCm39)	I152F	probably damaging	Het
Tecpr1	T	C	5: 144,153,117 (GRCm39)	E204G	possibly damaging	Het
Tiam1	A	T	16: 89,662,145 (GRCm39)	S658T	probably damaging	Het
Tmem174	G	T	13: 98,773,433 (GRCm39)	H132Q	probably damaging	Het
Tnfrsf10b	G	A	14: 70,012,543 (GRCm39)	V117I	probably benign	Het
Tnr	A	G	1: 159,713,728 (GRCm39)	T719A	probably benign	Het
Tomm34	G	A	2: 163,896,379 (GRCm39)	P292S	probably damaging	Het
Trav15-1-dv6-1	T	A	14: 53,797,615 (GRCm39)	F88Y	probably damaging	Het
Trp63	A	T	16: 25,639,226 (GRCm39)	H138L	probably damaging	Het
U2af2	T	A	7: 5,065,290 (GRCm39)	S2T	probably damaging	Het
Uroc1	T	C	6: 90,334,510 (GRCm39)	V574A	possibly damaging	Het
Zc3h7b	G	A	15: 81,656,681 (GRCm39)	R166Q	probably benign	Het
Zfp488	A	C	14: 33,692,760 (GRCm39)	S134R	probably benign	Het
Zfp950	T	C	19: 61,116,001 (GRCm39)	D2G	probably benign	Het
Zfyve1	T	A	12: 83,598,374 (GRCm39)	H618L	probably damaging	Het
Zp1	T	G	19: 10,893,888 (GRCm39)	D439A	probably 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
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
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'- CAAAGTCCTCTCTGAAGGAAGC -3'
(R):5'- CCCTCAATTTATTTTGGGCGG -3'

Sequencing Primer
(F):5'- GAAGCTAACTTCCTCAGCAGC -3'
(R):5'- CCTCAATTTATTTTGGGCGGAGGTG -3'

Posted On

2021-07-15