Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01479:L3mbtl2'

88551

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

L3mbtl2

Ensembl Gene

ENSMUSG00000022394

Gene Name

L3MBTL2 polycomb repressive complex 1 subunit

Synonyms

m4mbt, 4732493N06Rik

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01479

Quality Score

Status

Chromosome

Chromosomal Location

81663889-81688315 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 81676392 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 285 (T285A)

Ref Sequence

ENSEMBL: ENSMUSP00000133967 (fasta)

Gene Model

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

AlphaFold

P59178

Predicted Effect

probably benign
Transcript: ENSMUST00000023029
AA Change: T285A

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000023029
Gene: ENSMUSG00000022394
AA Change: T285A

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: ENSMUST00000172568
AA Change: T285A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172604

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172620

Predicted Effect

probably benign
Transcript: ENSMUST00000172748
AA Change: T285A

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000134333
Gene: ENSMUSG00000022394
AA Change: T285A

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: ENSMUST00000173607

Predicted Effect

probably benign
Transcript: ENSMUST00000174229
AA Change: T285A

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000133967
Gene: ENSMUSG00000022394
AA Change: T285A

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

unknown
Transcript: ENSMUST00000174497
AA Change: T82A

SMART Domains

Protein: ENSMUSP00000133549
Gene: ENSMUSG00000022394
AA Change: T82A

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

Coding Region Coverage

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: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akr1c12	T	C	13: 4,272,935	K225R	probably benign	Het
Amn	C	A	12: 111,271,793	A47E	probably damaging	Het
Arhgef1	T	C	7: 24,912,603	I137T	probably benign	Het
Cep57l1	T	C	10: 41,728,639	K165E	possibly damaging	Het
Chfr	A	G	5: 110,144,993		probably benign	Het
Dnah9	A	G	11: 65,955,717	V2923A	probably benign	Het
Dnaja2	T	C	8: 85,553,951	Y35C	probably damaging	Het
Dnajc2	T	C	5: 21,757,893	T481A	probably damaging	Het
Foxred2	A	G	15: 77,952,289		probably null	Het
Gin1	C	T	1: 97,792,372	T364I	possibly damaging	Het
Glt8d2	C	T	10: 82,660,736	V163I	probably damaging	Het
Gm10118	T	C	10: 63,926,820		probably benign	Het
Hps5	C	T	7: 46,762,942		probably null	Het
Kdm4c	A	G	4: 74,343,501	K638E	probably benign	Het
Mab21l1	A	G	3: 55,783,832	Y280C	probably damaging	Het
Mcoln2	T	A	3: 146,175,652		probably benign	Het
Myo9b	G	T	8: 71,359,342	R1926L	probably damaging	Het
Rrp12	A	G	19: 41,865,202	V1251A	probably benign	Het
Rtn4rl1	A	G	11: 75,265,342	D200G	probably damaging	Het
Sbsn	G	A	7: 30,752,357	A266T	possibly damaging	Het
Sgca	A	T	11: 94,963,378	C335*	probably null	Het
Spag1	T	C	15: 36,233,199		probably benign	Het
Sult6b1	A	T	17: 78,905,576	V82D	probably benign	Het
Tigit	T	C	16: 43,659,522	T137A	probably benign	Het
Tmem125	G	A	4: 118,541,623	Q204*	probably null	Het
Tmem59l	C	T	8: 70,486,098	R111Q	probably benign	Het
Vmn2r95	G	A	17: 18,443,862	G448R	probably damaging	Het
Zfp64	T	C	2: 168,951,679	H49R	probably damaging	Het

Other mutations in L3mbtl2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01111:L3mbtl2	APN	15	81684898	missense	possibly damaging	0.89
IGL01380:L3mbtl2	APN	15	81671125	missense	possibly damaging	0.75
IGL02943:L3mbtl2	APN	15	81686255	missense	possibly damaging	0.56
IGL03406:L3mbtl2	APN	15	81681993	missense	probably damaging	1.00
PIT4431001:L3mbtl2	UTSW	15	81676307	missense	probably benign	0.32
R0393:L3mbtl2	UTSW	15	81668741	missense	probably damaging	1.00
R0394:L3mbtl2	UTSW	15	81668741	missense	probably damaging	1.00
R0449:L3mbtl2	UTSW	15	81668741	missense	probably damaging	1.00
R0565:L3mbtl2	UTSW	15	81684286	splice site	probably benign
R1263:L3mbtl2	UTSW	15	81682968	missense	probably benign	0.00
R1426:L3mbtl2	UTSW	15	81676317	missense	possibly damaging	0.95
R1542:L3mbtl2	UTSW	15	81682151	missense	probably null	0.45
R1556:L3mbtl2	UTSW	15	81682002	missense	probably benign	0.23
R1922:L3mbtl2	UTSW	15	81675621	missense	probably damaging	1.00
R2135:L3mbtl2	UTSW	15	81682014	missense	possibly damaging	0.94
R2237:L3mbtl2	UTSW	15	81684330	missense	probably benign
R4112:L3mbtl2	UTSW	15	81681969	missense	possibly damaging	0.90
R4577:L3mbtl2	UTSW	15	81686285	missense	probably benign
R4583:L3mbtl2	UTSW	15	81684906	missense	probably damaging	1.00
R4779:L3mbtl2	UTSW	15	81682612	missense	probably benign
R4787:L3mbtl2	UTSW	15	81663974	utr 5 prime	probably benign
R5448:L3mbtl2	UTSW	15	81684333	missense	possibly damaging	0.93
R5776:L3mbtl2	UTSW	15	81684871	missense	probably damaging	1.00
R6019:L3mbtl2	UTSW	15	81686942	missense	probably benign	0.00
R6058:L3mbtl2	UTSW	15	81667354	missense	probably benign
R6259:L3mbtl2	UTSW	15	81681927	missense	probably damaging	1.00
R7178:L3mbtl2	UTSW	15	81671074	missense	probably benign	0.00
R7311:L3mbtl2	UTSW	15	81667387	missense	possibly damaging	0.76
R8797:L3mbtl2	UTSW	15	81685414	missense	possibly damaging	0.61
R8857:L3mbtl2	UTSW	15	81687119	missense	unknown

Posted On

2013-11-18