Mutagenetix > Incidental Mutations

Incidental Mutation 'R5604:L3mbtl4'

439216

Institutional Source

Beutler Lab

Gene Symbol

L3mbtl4

Ensembl Gene

ENSMUSG00000041565

Gene Name

L3MBTL4 histone methyl-lysine binding protein

Synonyms

MMRRC Submission

043156-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5604 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

68273797-68777961 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 68777922 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 609 (D609E)

Ref Sequence

ENSEMBL: ENSMUSP00000094892 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000093007]

Predicted Effect

probably benign
Transcript: ENSMUST00000093007
AA Change: D609E

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000094892
Gene: ENSMUSG00000041565
AA Change: D609E

Domain	Start	End	E-Value	Type
MBT	52	152	2.24e-46	SMART
MBT	160	260	6.29e-41	SMART
MBT	269	364	2.8e-47	SMART
Pfam:zf-C2HC	378	407	8.1e-16	PFAM
SAM	540	607	5.17e-11	SMART

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310034C09Rik	A	T	16: 88,759,390	N164I	possibly damaging	Het
4933402J07Rik	C	A	8: 87,568,497	R88S	possibly damaging	Het
Abca1	A	T	4: 53,067,168		probably null	Het
Abca13	T	A	11: 9,566,279	I4406K	probably damaging	Het
Adam6b	T	A	12: 113,490,800	Y412*	probably null	Het
Ahcyl2	C	T	6: 29,908,367	H370Y	probably damaging	Het
Ahi1	A	G	10: 20,987,005	Y693C	probably damaging	Het
Anapc4	T	A	5: 52,841,734	Y129*	probably null	Het
Ankrd35	A	G	3: 96,684,899	T834A	probably benign	Het
Antxr2	T	C	5: 97,948,310	K372E	probably damaging	Het
Arhgef1	C	T	7: 24,912,785	H198Y	probably benign	Het
Barhl2	T	C	5: 106,455,546	E249G	probably benign	Het
C2cd5	T	C	6: 143,012,021	E987G	probably benign	Het
C87436	T	C	6: 86,447,355	S290P	probably benign	Het
Ccser1	C	T	6: 61,313,804	T490M	probably damaging	Het
Cd8b1	T	C	6: 71,326,175	V78A	probably benign	Het
Cdc25c	A	G	18: 34,733,648	Y374H	probably damaging	Het
Cmya5	C	T	13: 93,092,763	R1939H	probably benign	Het
Cyp2d40	A	G	15: 82,764,055	F19S	probably damaging	Het
Dll3	A	G	7: 28,294,632	V460A	probably benign	Het
Dnajb12	GC	G	10: 59,892,752		probably null	Het
E4f1	A	G	17: 24,444,144	I729T	probably damaging	Het
Endou	A	C	15: 97,720,919	S75A	probably benign	Het
Epas1	C	T	17: 86,805,772	H129Y	probably damaging	Het
Grm1	T	A	10: 10,746,735	N415Y	probably damaging	Het
Hdc	A	T	2: 126,594,663	S429R	probably benign	Het
Hnf4g	C	T	3: 3,657,126	Q447*	probably null	Het
Htr6	C	T	4: 139,061,503	A414T	probably benign	Het
Insig1	T	C	5: 28,075,082	L224P	probably damaging	Het
Ipo9	G	A	1: 135,402,245	L486F	probably damaging	Het
Irak2	T	A	6: 113,690,831	S458T	possibly damaging	Het
Irs2	A	G	8: 11,005,007	S1142P	possibly damaging	Het
Kirrel	T	A	3: 87,089,155	N379I	possibly damaging	Het
Lama3	A	G	18: 12,439,348	T537A	probably benign	Het
Lce1i	A	T	3: 92,777,749	V40E	unknown	Het
Mprip	T	A	11: 59,758,467	V999D	probably benign	Het
Myd88	G	T	9: 119,339,763	T85K	possibly damaging	Het
Olfr395	T	A	11: 73,907,027	H155L	probably benign	Het
Padi6	A	T	4: 140,731,162	M473K	probably damaging	Het
Pcdh12	T	A	18: 38,268,882	S97C	probably damaging	Het
Pkd1l1	T	A	11: 8,833,877	D2026V	probably damaging	Het
Plcxd1	T	C	5: 110,102,585	V264A	probably benign	Het
Plekha4	T	C	7: 45,549,156	S558P	probably damaging	Het
Ppm1a	T	A	12: 72,790,681	M334K	probably benign	Het
Ppp1r13l	T	C	7: 19,375,599	S684P	possibly damaging	Het
Prdm4	TCTCCTCCT	TCTCCT	10: 85,893,123		probably null	Het
Prl2a1	T	C	13: 27,806,386		probably benign	Het
Ptch1	T	C	13: 63,525,122	K753E	probably benign	Het
Qrich1	A	G	9: 108,559,303		probably null	Het
Ror2	G	A	13: 53,117,165	R373C	probably benign	Het
Rtn4	C	A	11: 29,708,140	L765I	probably damaging	Het
Sema3a	T	C	5: 13,473,520		probably null	Het
Setd2	T	A	9: 110,604,216	D62E	probably damaging	Het
Ss18	A	T	18: 14,636,520	Y327N	unknown	Het
Ticam1	G	A	17: 56,271,756	T113I	probably benign	Het
Tnrc6a	A	G	7: 123,174,236	I1134V	probably damaging	Het
Top3b	T	G	16: 16,889,535	Y526*	probably null	Het
Tph2	T	C	10: 115,090,709	E384G	probably damaging	Het
Ttll11	A	T	2: 35,817,786	I503N	probably benign	Het
Zfp87	T	G	13: 67,517,826	K172N	probably damaging	Het

Other mutations in L3mbtl4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01626:L3mbtl4	APN	17	68630202	missense	probably damaging	1.00
IGL02274:L3mbtl4	APN	17	68764584	missense	probably benign	0.01
IGL02304:L3mbtl4	APN	17	68587185	nonsense	probably null
IGL02473:L3mbtl4	APN	17	68559777	missense	possibly damaging	0.93
IGL02543:L3mbtl4	APN	17	68461612	splice site	probably benign
IGL02706:L3mbtl4	APN	17	68486919	missense	probably damaging	1.00
IGL02729:L3mbtl4	APN	17	68484743	missense	probably benign	0.23
IGL02817:L3mbtl4	APN	17	68630254	missense	probably benign	0.30
IGL03237:L3mbtl4	APN	17	68777861	missense	probably damaging	1.00
IGL03371:L3mbtl4	APN	17	68461568	missense	probably damaging	1.00
R0092:L3mbtl4	UTSW	17	68425703	missense	probably benign	0.01
R0389:L3mbtl4	UTSW	17	68455780	missense	probably damaging	1.00
R0504:L3mbtl4	UTSW	17	68777912	missense	probably benign	0.07
R0598:L3mbtl4	UTSW	17	68459773	missense	probably benign	0.04
R0650:L3mbtl4	UTSW	17	68774291	missense	probably damaging	1.00
R0652:L3mbtl4	UTSW	17	68774291	missense	probably damaging	1.00
R0842:L3mbtl4	UTSW	17	68486962	missense	probably benign	0.19
R1900:L3mbtl4	UTSW	17	68459805	missense	probably damaging	0.99
R2065:L3mbtl4	UTSW	17	68425692	missense	probably benign	0.04
R2173:L3mbtl4	UTSW	17	68587193	missense	probably damaging	1.00
R2987:L3mbtl4	UTSW	17	68359518	missense	possibly damaging	0.89
R3119:L3mbtl4	UTSW	17	68425674	missense	probably benign	0.02
R3153:L3mbtl4	UTSW	17	68457248	nonsense	probably null
R4044:L3mbtl4	UTSW	17	68777914	missense	possibly damaging	0.63
R4579:L3mbtl4	UTSW	17	68764640	missense	probably benign
R4717:L3mbtl4	UTSW	17	68455713	missense	probably null	0.67
R4798:L3mbtl4	UTSW	17	68359480	start codon destroyed	probably null	0.03
R4831:L3mbtl4	UTSW	17	68461563	missense	probably damaging	0.98
R4852:L3mbtl4	UTSW	17	68559753	missense	probably damaging	1.00
R5226:L3mbtl4	UTSW	17	68764722	critical splice donor site	probably null
R5402:L3mbtl4	UTSW	17	68455774	missense	probably damaging	1.00
R6377:L3mbtl4	UTSW	17	68777923	missense	probably benign	0.04
R6708:L3mbtl4	UTSW	17	68630258	missense	probably benign	0.19
R6853:L3mbtl4	UTSW	17	68777920	missense	probably damaging	0.97
R6905:L3mbtl4	UTSW	17	68777888	missense	probably benign	0.05
R7018:L3mbtl4	UTSW	17	68486943	missense	probably damaging	1.00
R7045:L3mbtl4	UTSW	17	68461566	missense	probably benign	0.00
R7047:L3mbtl4	UTSW	17	68461566	missense	probably benign	0.00
R7049:L3mbtl4	UTSW	17	68461566	missense	probably benign	0.00
R7419:L3mbtl4	UTSW	17	68641542	missense	probably benign	0.28
R8271:L3mbtl4	UTSW	17	68486943	missense	probably damaging	1.00
R8493:L3mbtl4	UTSW	17	68630244	missense	probably damaging	1.00
X0063:L3mbtl4	UTSW	17	68630253	missense	probably benign	0.37
Z1176:L3mbtl4	UTSW	17	68425687	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACGAGGCCATGAAGATTCAC -3'
(R):5'- GCCTAAACCAGACTCTTTAAAGGG -3'

Sequencing Primer
(F):5'- CTGCTACTGCTGGATAAACAGATTCC -3'
(R):5'- GGGTCCTGATTAAATATTGGTACAC -3'

Posted On

2016-10-26