Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01759:L3mbtl3'

153533

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

L3mbtl3

Ensembl Gene

ENSMUSG00000039089

Gene Name

L3MBTL3 histone methyl-lysine binding protein

Synonyms

MBT-1

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01759

Quality Score

Status

Chromosome

Chromosomal Location

26274468-26375971 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 26331900 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 307 (F307S)

Ref Sequence

ENSEMBL: ENSMUSP00000133479 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040219] [ENSMUST00000105519] [ENSMUST00000174766]

AlphaFold

Q8BLB7

Predicted Effect

unknown
Transcript: ENSMUST00000040219
AA Change: F307S

SMART Domains

Protein: ENSMUSP00000037619
Gene: ENSMUSG00000039089
AA Change: F307S

Domain	Start	End	E-Value	Type
low complexity region	154	166	N/A	INTRINSIC
low complexity region	204	214	N/A	INTRINSIC
MBT	232	332	3.75e-48	SMART
MBT	340	439	3.67e-42	SMART
MBT	448	543	7.5e-48	SMART
low complexity region	604	615	N/A	INTRINSIC
low complexity region	662	770	N/A	INTRINSIC
SAM	808	875	2.49e-13	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000105519
AA Change: F282S

SMART Domains

Protein: ENSMUSP00000101158
Gene: ENSMUSG00000039089
AA Change: F282S

Domain	Start	End	E-Value	Type
low complexity region	129	141	N/A	INTRINSIC
low complexity region	179	189	N/A	INTRINSIC
MBT	207	307	3.75e-48	SMART
MBT	315	414	3.67e-42	SMART
MBT	423	518	7.5e-48	SMART
low complexity region	579	590	N/A	INTRINSIC
low complexity region	637	745	N/A	INTRINSIC
SAM	783	850	2.49e-13	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000174766
AA Change: F307S

SMART Domains

Protein: ENSMUSP00000133479
Gene: ENSMUSG00000039089
AA Change: F307S

Domain	Start	End	E-Value	Type
low complexity region	154	166	N/A	INTRINSIC
low complexity region	204	214	N/A	INTRINSIC
MBT	232	332	3.75e-48	SMART
MBT	340	439	3.67e-42	SMART
MBT	448	543	7.5e-48	SMART
low complexity region	604	615	N/A	INTRINSIC
low complexity region	662	770	N/A	INTRINSIC
SAM	808	875	2.49e-13	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217699

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the malignant brain tumor (MBT) family of chromatin interacting transcriptional repressors. Members of this family function as methyl-lysine readers, which recognize methylated lysine residues on histone protein tails, and are associated with the repression of gene expression. The encoded protein may regulate hematopoiesis. Homozygous deletion of this gene has been observed in human patients with medulloblastoma. [provided by RefSeq, Oct 2016]
PHENOTYPE: Mice homozygous for a null mutation die between E17.5 ? 19.5 due to disturbed erythropoiesis which result in anemia. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi3	A	T	11: 95,835,799	D150E	probably damaging	Het
Akr1c14	T	A	13: 4,081,139	I277N	probably damaging	Het
Ap1b1	C	T	11: 5,019,433	T263I	probably damaging	Het
Atp6v0d2	C	A	4: 19,878,335	V313L	probably damaging	Het
BC030867	T	C	11: 102,255,596	C233R	probably benign	Het
Car2	G	A	3: 14,895,628		probably null	Het
Cdh17	T	A	4: 11,771,262		probably benign	Het
Cep295	A	G	9: 15,323,559		probably null	Het
Cep97	T	C	16: 55,930,573	K27E	probably damaging	Het
Cops5	A	T	1: 10,027,249	N258K	probably damaging	Het
Dchs1	T	A	7: 105,755,302	T2678S	probably benign	Het
Dnah10	T	A	5: 124,755,786	F861Y	probably benign	Het
Dock10	T	C	1: 80,526,273	E1777G	probably damaging	Het
Dock5	G	A	14: 67,881,259	Q23*	probably null	Het
Ermp1	T	C	19: 29,615,836	K752R	probably benign	Het
Fam160a1	A	C	3: 85,688,447	I377S	probably damaging	Het
Gjd2	T	A	2: 114,011,106	I297L	probably benign	Het
Gm1123	T	C	9: 99,023,254	M68V	probably benign	Het
Gm28372	C	T	2: 130,406,898	R59W	probably damaging	Het
Gm9912	A	C	3: 149,185,438	F20V	unknown	Het
Gpat2	T	C	2: 127,430,896	F176S	possibly damaging	Het
Gpr150	T	C	13: 76,055,665	H387R	possibly damaging	Het
Gpr20	T	A	15: 73,696,420	D40V	probably damaging	Het
Jakmip3	A	T	7: 139,020,904	Q331L	probably damaging	Het
Kif5b	A	T	18: 6,211,019		probably benign	Het
Kif5b	A	G	18: 6,225,647	V179A	probably damaging	Het
Krt14	A	T	11: 100,204,416		probably benign	Het
Laptm4a	T	C	12: 8,934,687		probably benign	Het
Marveld3	T	C	8: 109,948,087	S366G	possibly damaging	Het
Mga	C	A	2: 119,951,195	T2234K	possibly damaging	Het
Mkrn2os	T	C	6: 115,592,331	N54S	probably benign	Het
Mras	T	C	9: 99,411,495	I31V	probably damaging	Het
Myh1	A	G	11: 67,219,906	D1518G	probably damaging	Het
Myoz2	A	T	3: 123,013,781	Y127N	possibly damaging	Het
Nhlrc1	C	A	13: 47,013,962	W273L	probably benign	Het
Nol9	C	T	4: 152,046,043		probably benign	Het
Nrxn2	T	C	19: 6,509,929	V1206A	probably damaging	Het
Olfr180	A	T	16: 58,915,928	F238I	probably damaging	Het
Olfr523	T	C	7: 140,176,534	I138T	probably benign	Het
Olfr694	T	C	7: 106,689,333	T133A	probably benign	Het
Olfr774	T	A	10: 129,239,072	F308I	probably benign	Het
Olfr971	T	A	9: 39,839,611	M59K	probably damaging	Het
Pappa	T	C	4: 65,205,158		probably null	Het
Pfkl	A	G	10: 78,000,731	S151P	probably damaging	Het
Pgbd5	C	T	8: 124,384,379	G191D	probably damaging	Het
Pikfyve	T	C	1: 65,253,353	V1276A	probably benign	Het
Pla2g4c	T	A	7: 13,348,316	Y486N	probably damaging	Het
Rasal2	C	A	1: 157,175,932	V386L	probably benign	Het
S1pr3	G	A	13: 51,419,512	R243Q	probably damaging	Het
Slc44a4	A	G	17: 34,921,243	D208G	probably benign	Het
Slc6a4	T	C	11: 77,013,288	S190P	probably damaging	Het
Snapc5	A	T	9: 64,180,497		probably null	Het
Tbc1d14	C	A	5: 36,571,569	R151L	probably damaging	Het
Tecpr2	T	A	12: 110,931,392		probably benign	Het
Tmem219	G	A	7: 126,897,138	P44L	probably damaging	Het
Ube2e1	T	C	14: 18,330,951	R51G	probably null	Het
Ugp2	T	C	11: 21,353,447	K53E	probably benign	Het
Vmn1r214	T	C	13: 23,034,492	I52T	probably benign	Het
Vmn2r124	C	T	17: 18,064,068	T457I	probably benign	Het
Vps13b	A	G	15: 35,878,789	E2978G	probably damaging	Het
Zfr	A	G	15: 12,159,655	D679G	probably damaging	Het
Zhx3	T	C	2: 160,780,714	N511S	probably damaging	Het

Other mutations in L3mbtl3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00905:L3mbtl3	APN	10	26313846	critical splice donor site	probably null
IGL01357:L3mbtl3	APN	10	26330185	missense	unknown
IGL01712:L3mbtl3	APN	10	26276235	missense	probably damaging	0.96
IGL01928:L3mbtl3	APN	10	26330245	missense	unknown
IGL01955:L3mbtl3	APN	10	26318438	missense	unknown
IGL02674:L3mbtl3	APN	10	26282813	missense	unknown
IGL02731:L3mbtl3	APN	10	26344176	critical splice donor site	probably null
IGL03188:L3mbtl3	APN	10	26342617	missense	unknown
IGL03252:L3mbtl3	APN	10	26331812	splice site	probably benign
IGL03298:L3mbtl3	APN	10	26282798	missense	unknown
IGL03400:L3mbtl3	APN	10	26315526	missense	unknown
R0121:L3mbtl3	UTSW	10	26313870	missense	unknown
R0468:L3mbtl3	UTSW	10	26327732	missense	unknown
R0497:L3mbtl3	UTSW	10	26282874	splice site	probably benign
R0586:L3mbtl3	UTSW	10	26327834	missense	unknown
R0633:L3mbtl3	UTSW	10	26302685	missense	unknown
R0679:L3mbtl3	UTSW	10	26313933	nonsense	probably null
R1302:L3mbtl3	UTSW	10	26327769	missense	unknown
R2128:L3mbtl3	UTSW	10	26313868	missense	unknown
R2267:L3mbtl3	UTSW	10	26331857	nonsense	probably null
R3121:L3mbtl3	UTSW	10	26344221	intron	probably benign
R3410:L3mbtl3	UTSW	10	26339299	missense	unknown
R4237:L3mbtl3	UTSW	10	26340948	missense	unknown
R4257:L3mbtl3	UTSW	10	26280122	missense	unknown
R4308:L3mbtl3	UTSW	10	26282792	missense	unknown
R4359:L3mbtl3	UTSW	10	26327741	missense	unknown
R4407:L3mbtl3	UTSW	10	26313884	missense	unknown
R4613:L3mbtl3	UTSW	10	26282795	missense	unknown
R4663:L3mbtl3	UTSW	10	26337817	missense	unknown
R4843:L3mbtl3	UTSW	10	26331879	missense	unknown
R4886:L3mbtl3	UTSW	10	26292770	missense	unknown
R5158:L3mbtl3	UTSW	10	26303688	missense	unknown
R5247:L3mbtl3	UTSW	10	26327808	missense	unknown
R5580:L3mbtl3	UTSW	10	26303706	missense	unknown
R5966:L3mbtl3	UTSW	10	26331864	missense	unknown
R6218:L3mbtl3	UTSW	10	26292747	missense	unknown
R6508:L3mbtl3	UTSW	10	26318427	missense	unknown
R6563:L3mbtl3	UTSW	10	26302863	splice site	probably null
R6709:L3mbtl3	UTSW	10	26282797	missense	unknown
R6927:L3mbtl3	UTSW	10	26292669	nonsense	probably null
R6984:L3mbtl3	UTSW	10	26282855	missense	unknown
R7010:L3mbtl3	UTSW	10	26282861	critical splice acceptor site	probably null
R7229:L3mbtl3	UTSW	10	26292662	missense	unknown
R7231:L3mbtl3	UTSW	10	26339282	missense	unknown
R7296:L3mbtl3	UTSW	10	26282830	missense	unknown
R7363:L3mbtl3	UTSW	10	26340952	missense	unknown
R7490:L3mbtl3	UTSW	10	26339231	missense	unknown
R7775:L3mbtl3	UTSW	10	26352317	missense	unknown
R7815:L3mbtl3	UTSW	10	26280378	missense	unknown
R8272:L3mbtl3	UTSW	10	26303668	missense	unknown
R8762:L3mbtl3	UTSW	10	26276223	missense	probably damaging	1.00
R8925:L3mbtl3	UTSW	10	26344186	missense	unknown
R8927:L3mbtl3	UTSW	10	26344186	missense	unknown
R9043:L3mbtl3	UTSW	10	26280254	missense	unknown
R9228:L3mbtl3	UTSW	10	26336257	missense	unknown
Z1177:L3mbtl3	UTSW	10	26280402	nonsense	probably null
Z1177:L3mbtl3	UTSW	10	26302663	missense	unknown

Posted On

2014-02-04