Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01357:L3mbtl3'

75580

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 #

IGL01357

Quality Score

Status

Chromosome

Chromosomal Location

26274468-26375971 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 26330185 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 361 (N361I)

Ref Sequence

ENSEMBL: ENSMUSP00000133479 (fasta)

Gene Model

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

Predicted Effect

unknown
Transcript: ENSMUST00000040219
AA Change: N361I

SMART Domains

Protein: ENSMUSP00000037619
Gene: ENSMUSG00000039089
AA Change: N361I

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: N336I

SMART Domains

Protein: ENSMUSP00000101158
Gene: ENSMUSG00000039089
AA Change: N336I

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: N361I

SMART Domains

Protein: ENSMUSP00000133479
Gene: ENSMUSG00000039089
AA Change: N361I

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022B05Rik	C	A	8: 124,639,333	V224F	probably damaging	Het
Abca4	T	A	3: 122,103,583	M637K	probably damaging	Het
Abca8a	A	G	11: 110,031,572	V1395A	probably benign	Het
Adam20	A	C	8: 40,796,560	D569A	probably benign	Het
Axl	A	G	7: 25,774,169	L344P	probably benign	Het
B3gat1	T	C	9: 26,756,987	L291P	probably damaging	Het
Cdc25c	A	T	18: 34,734,857		probably null	Het
Crat	A	T	2: 30,407,724	Y263N	probably damaging	Het
Crb2	A	G	2: 37,795,511		probably benign	Het
Dhx33	G	A	11: 70,993,861	Q40*	probably null	Het
Dnah7a	A	T	1: 53,662,381	V205D	probably benign	Het
Emsy	A	T	7: 98,590,870	Y1011*	probably null	Het
Fbln5	C	T	12: 101,750,887	S414N	probably damaging	Het
Fev	T	C	1: 74,882,524	E89G	possibly damaging	Het
Fgg	A	G	3: 83,014,228	E406G	possibly damaging	Het
Glra1	A	T	11: 55,514,889	M425K	possibly damaging	Het
Gm8214	C	T	1: 183,681,932		noncoding transcript	Het
Kdm3b	A	G	18: 34,793,014	E69G	probably damaging	Het
Kntc1	T	A	5: 123,757,814	V89E	probably damaging	Het
Macrod2	A	G	2: 142,384,330	N457S	probably damaging	Het
Mal	C	A	2: 127,640,314	M56I	probably damaging	Het
Mfsd5	C	T	15: 102,281,447	T418M	probably benign	Het
Mmaa	C	A	8: 79,267,971	R402L	probably benign	Het
Myo15	T	C	11: 60,502,289		probably benign	Het
Nme1	A	G	11: 93,959,491	S122P	possibly damaging	Het
Nxt1	A	G	2: 148,675,396	E19G	probably damaging	Het
Nynrin	A	T	14: 55,870,417	T994S	probably benign	Het
Orc2	T	G	1: 58,497,392	E56D	probably benign	Het
Orc2	T	C	1: 58,497,393	E56G	probably benign	Het
Pid1	G	A	1: 84,038,305	T113I	probably damaging	Het
Plcg2	G	A	8: 117,614,161		probably benign	Het
Rad50	A	G	11: 53,707,021	V12A	probably damaging	Het
Serpinb9c	C	T	13: 33,151,879	V197I	probably benign	Het
Sfxn2	A	T	19: 46,585,773	N134I	probably damaging	Het
Spen	T	C	4: 141,517,113	R204G	unknown	Het
Strip2	A	G	6: 29,939,167		probably benign	Het
Tas2r135	A	T	6: 42,406,144	I206L	probably benign	Het
Tmem243	A	G	5: 9,101,348	T11A	probably damaging	Het
Tmprss11c	A	G	5: 86,231,807	V401A	probably damaging	Het
Trim50	T	A	5: 135,363,954	I241N	probably damaging	Het
Ttn	A	C	2: 76,951,520	S1015A	possibly damaging	Het
Wee1	T	C	7: 110,142,035	S622P	probably benign	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
IGL01712:L3mbtl3	APN	10	26276235	missense	probably damaging	0.96
IGL01759:L3mbtl3	APN	10	26331900	missense	unknown
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
Z1177:L3mbtl3	UTSW	10	26280402	nonsense	probably null
Z1177:L3mbtl3	UTSW	10	26302663	missense	unknown

Posted On

2013-10-07