Mutagenetix > Incidental Mutation

Incidental Mutation 'R7474:L3mbtl1'

579323

Institutional Source

Beutler Lab

Gene Symbol

L3mbtl1

Ensembl Gene

ENSMUSG00000035576

Gene Name

L3MBTL1 histone methyl-lysine binding protein

Synonyms

L3MBTL1

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7474 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

162943472-162974522 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 162966604 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 574 (D574V)

Ref Sequence

ENSEMBL: ENSMUSP00000044038 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035751]

AlphaFold

A2A5N8

Predicted Effect

probably damaging
Transcript: ENSMUST00000035751
AA Change: D574V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000044038
Gene: ENSMUSG00000035576
AA Change: D574V

Domain	Start	End	E-Value	Type
low complexity region	234	242	N/A	INTRINSIC
MBT	280	380	5.34e-53	SMART
MBT	388	487	2.17e-53	SMART
MBT	496	591	1.49e-51	SMART
Pfam:zf-C2HC	627	655	1.7e-17	PFAM
SAM	754	821	3.49e-8	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene represents a polycomb group gene. The encoded protein functions to regulate gene activity, likely via chromatin modification. The encoded protein may also be necessary for mitosis. Alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, Sep 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal nervous system phenotype, hematopoietic system phenotype, immune system phenotype, cellular phenotype, and lifespan. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,328,088	C3089*	probably null	Het
Abcc1	A	G	16: 14,472,986	T1487A	possibly damaging	Het
Agfg1	T	A	1: 82,882,411	L333*	probably null	Het
Agfg2	C	A	5: 137,653,868	V410F	possibly damaging	Het
Amotl2	T	C	9: 102,730,111	V706A	probably benign	Het
Apob	A	T	12: 8,009,185	T2556S	probably benign	Het
Asb18	T	A	1: 89,993,033	H174L	possibly damaging	Het
Atp10a	G	A	7: 58,658,527	E25K	unknown	Het
Aup1	T	C	6: 83,054,967	L65P	probably benign	Het
Blvra	T	C	2: 127,086,849	F86L	probably damaging	Het
Cabp4	T	C	19: 4,139,399	D53G	probably benign	Het
Cd300c2	T	A	11: 114,998,296	E153V	probably benign	Het
Crxos	A	G	7: 15,902,931	E143G	possibly damaging	Het
Csmd2	A	G	4: 128,546,127	N3125D		Het
Cyp2c67	T	A	19: 39,617,432	Q340L	probably null	Het
Dscam	T	A	16: 96,819,889	N540Y	possibly damaging	Het
E2f8	G	A	7: 48,875,760	R155W	probably damaging	Het
Ext1	A	T	15: 53,344,489	V292D	probably damaging	Het
Extl3	T	C	14: 65,076,641	E364G	possibly damaging	Het
Fmn2	CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC	CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC	1: 174,609,203		probably benign	Het
Fsd1	A	T	17: 55,988,149	D46V	possibly damaging	Het
Gcnt2	T	A	13: 40,958,257	L374H	probably damaging	Het
Gm10309	G	A	17: 86,504,667		probably benign	Het
Gm13084	T	C	4: 143,811,699	D234G	probably benign	Het
Gm14410	A	T	2: 177,202,825		probably null	Het
Gm5114	A	T	7: 39,407,980	S738R	probably benign	Het
Gtf3c2	C	A	5: 31,167,756	G502W	probably damaging	Het
Insc	G	A	7: 114,768,823		probably null	Het
Kcnt2	T	C	1: 140,570,478	Y898H	possibly damaging	Het
Kctd19	C	A	8: 105,392,032	R299L	probably benign	Het
Klf10	T	C	15: 38,297,202	N198S	probably benign	Het
Lamc1	G	A	1: 153,332,265	A92V	possibly damaging	Het
Lrrc63	T	A	14: 75,126,203	T163S	possibly damaging	Het
Mak	T	A	13: 41,051,480	K127N	probably damaging	Het
Mdga2	G	A	12: 66,486,761	Q945*	probably null	Het
Mthfr	T	A	4: 148,052,602	I519N	possibly damaging	Het
Mtmr2	C	A	9: 13,799,225	H357N	probably damaging	Het
Myh13	A	T	11: 67,327,164	E21V	possibly damaging	Het
Myh13	A	C	11: 67,367,711	Q184P		Het
Nans	T	A	4: 46,502,484	L307Q	probably damaging	Het
Ncan	C	A	8: 70,102,041	R1042L	possibly damaging	Het
Nrg3	T	C	14: 39,011,999	E310G	probably damaging	Het
Obsl1	A	C	1: 75,498,184	N857K	probably benign	Het
Olfml2a	T	C	2: 38,960,261	V663A	probably damaging	Het
Olfr1104	T	C	2: 87,022,554		probably benign	Het
Olfr116	T	C	17: 37,624,386	D83G	probably benign	Het
Olfr213	G	T	6: 116,541,038	C195F	probably damaging	Het
Olfr603	A	G	7: 103,383,762	I80T	probably damaging	Het
Olfr621-ps1	C	A	7: 103,629,147	W271L	unknown	Het
Pla2g4a	T	C	1: 149,865,200	M363V	possibly damaging	Het
Prickle1	A	T	15: 93,508,671	V157D	possibly damaging	Het
Pstk	A	G	7: 131,373,633	N105S	probably benign	Het
Ptpn21	A	G	12: 98,737,363		probably null	Het
Rnf2	T	A	1: 151,471,716	E277D	probably benign	Het
Rnpepl1	T	C	1: 92,918,972	F532S	probably benign	Het
Rtn1	C	T	12: 72,308,390	A261T	possibly damaging	Het
Ryr2	A	G	13: 11,594,876	S4355P	probably benign	Het
Sacs	T	G	14: 61,211,178	L3558V	probably benign	Het
Senp6	T	C	9: 80,142,328	V1047A	probably damaging	Het
Slco2b1	A	T	7: 99,664,832	C515S	probably damaging	Het
Smgc	T	A	15: 91,860,694	V732E	possibly damaging	Het
Sorcs1	T	C	19: 50,153,112	M1105V	possibly damaging	Het
Spats1	A	G	17: 45,457,161	Y160H	possibly damaging	Het
Tnfsf14	T	A	17: 57,190,848	D128V		Het
Tns3	T	C	11: 8,530,894	Q234R	probably damaging	Het
Uxs1	A	G	1: 43,757,024	V306A	possibly damaging	Het
Vac14	T	A	8: 110,636,434	V304D	probably damaging	Het
Vangl1	A	G	3: 102,184,249	F174L	probably benign	Het
Vav1	A	G	17: 57,299,102	E242G	probably benign	Het
Vsir	A	G	10: 60,368,922	N305D	probably benign	Het
Vwce	T	A	19: 10,646,941	C399S	possibly damaging	Het
Wrn	A	T	8: 33,329,181	L248M	probably damaging	Het
Zfp141	T	A	7: 42,476,254	K265*	probably null	Het
Zfp735	A	T	11: 73,711,176	K315N	possibly damaging	Het

Other mutations in L3mbtl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00236:L3mbtl1	APN	2	162967063	missense	probably damaging	1.00
IGL01090:L3mbtl1	APN	2	162966005	missense	probably damaging	1.00
IGL01291:L3mbtl1	APN	2	162970180	missense	probably benign	0.30
IGL02897:L3mbtl1	APN	2	162965772	missense	probably damaging	1.00
IGL02974:L3mbtl1	APN	2	162970183	missense	possibly damaging	0.68
IGL02986:L3mbtl1	APN	2	162970305	missense	probably damaging	1.00
IGL03057:L3mbtl1	APN	2	162967383	missense	probably damaging	1.00
IGL03372:L3mbtl1	APN	2	162971157	splice site	probably benign
ANU05:L3mbtl1	UTSW	2	162970180	missense	probably benign	0.30
R0006:L3mbtl1	UTSW	2	162964569	missense	possibly damaging	0.94
R0006:L3mbtl1	UTSW	2	162964569	missense	possibly damaging	0.94
R0067:L3mbtl1	UTSW	2	162948828	missense	probably damaging	1.00
R0067:L3mbtl1	UTSW	2	162948828	missense	probably damaging	1.00
R0078:L3mbtl1	UTSW	2	162947226	missense	probably benign	0.12
R0505:L3mbtl1	UTSW	2	162947335	splice site	probably benign
R0748:L3mbtl1	UTSW	2	162971163	splice site	probably benign
R0748:L3mbtl1	UTSW	2	162971164	critical splice acceptor site	probably null
R0761:L3mbtl1	UTSW	2	162966047	missense	probably damaging	1.00
R1789:L3mbtl1	UTSW	2	162974502	missense	probably benign
R1970:L3mbtl1	UTSW	2	162959572	missense	probably damaging	1.00
R2114:L3mbtl1	UTSW	2	162960070	splice site	probably null
R2115:L3mbtl1	UTSW	2	162960070	splice site	probably null
R2116:L3mbtl1	UTSW	2	162960070	splice site	probably null
R2117:L3mbtl1	UTSW	2	162960070	splice site	probably null
R2513:L3mbtl1	UTSW	2	162967585	missense	probably benign
R3848:L3mbtl1	UTSW	2	162948201	missense	probably damaging	1.00
R4877:L3mbtl1	UTSW	2	162948568	missense	probably damaging	0.98
R4930:L3mbtl1	UTSW	2	162965772	missense	probably damaging	1.00
R5930:L3mbtl1	UTSW	2	162967336	small deletion	probably benign
R5932:L3mbtl1	UTSW	2	162967336	small deletion	probably benign
R6562:L3mbtl1	UTSW	2	162970204	missense	probably benign	0.28
R6601:L3mbtl1	UTSW	2	162948175	start gained	probably benign
R6995:L3mbtl1	UTSW	2	162961448	missense	probably damaging	1.00
R7188:L3mbtl1	UTSW	2	162949540	critical splice donor site	probably null
R7346:L3mbtl1	UTSW	2	162967006	missense	probably benign	0.01
R7379:L3mbtl1	UTSW	2	162960979	missense	probably damaging	1.00
R7553:L3mbtl1	UTSW	2	162948231	missense	probably benign	0.01
R7599:L3mbtl1	UTSW	2	162964514	missense	possibly damaging	0.70
R8745:L3mbtl1	UTSW	2	162970217	missense	probably benign	0.08
R8910:L3mbtl1	UTSW	2	162970293	missense	probably benign	0.00
R9039:L3mbtl1	UTSW	2	162966068	missense	probably damaging	1.00
R9216:L3mbtl1	UTSW	2	162965052	missense	probably benign	0.04
R9253:L3mbtl1	UTSW	2	162947712	missense	probably benign	0.00
R9483:L3mbtl1	UTSW	2	162948814	missense	probably benign	0.01
R9509:L3mbtl1	UTSW	2	162967383	missense	probably damaging	1.00
R9683:L3mbtl1	UTSW	2	162970308	missense	possibly damaging	0.88
R9688:L3mbtl1	UTSW	2	162948777	missense	possibly damaging	0.90

Predicted Primers

PCR Primer
(F):5'- AACTCTGAGAAGCCATGGCC -3'
(R):5'- TAGTGTAGCATGAAGTCCTAAGG -3'

Sequencing Primer
(F):5'- CAGAGGCAGTCACTCTGTAG -3'
(R):5'- TGTAGCATGAAGTCCTAAGGAGTTAC -3'

Posted On

2019-10-07