Mutagenetix > Incidental Mutation

Incidental Mutation 'R0650:L3mbtl4'

62239

Institutional Source

Beutler Lab

Gene Symbol

L3mbtl4

Ensembl Gene

ENSMUSG00000041565

Gene Name

L3MBTL4 histone methyl-lysine binding protein

Synonyms

D930040M24Rik, A730037L19Rik

MMRRC Submission

038835-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0650 (G1)

Quality Score

216

Status

Validated

Chromosome

Chromosomal Location

68580792-69087081 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 69081286 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 558 (C558Y)

Ref Sequence

ENSEMBL: ENSMUSP00000094892 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000093007
AA Change: C558Y

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

SMART Domains

Protein: ENSMUSP00000094892
Gene: ENSMUSG00000041565
AA Change: C558Y

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

Meta Mutation Damage Score

0.7487

Coding Region Coverage

1x: 99.5%
3x: 99.0%
10x: 97.8%
20x: 96.0%

Validation Efficiency

99% (77/78)

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700020N15Rik	A	G	X: 68,989,391 (GRCm39)	S96G	unknown	Het
4930447C04Rik	T	C	12: 72,956,830 (GRCm39)	D120G	probably damaging	Het
Actmap	A	T	7: 26,902,072 (GRCm39)	H233L	probably damaging	Het
Adgrg5	T	A	8: 95,660,785 (GRCm39)		probably null	Het
Afg3l2	G	T	18: 67,548,627 (GRCm39)	H534Q	possibly damaging	Het
Ankar	G	A	1: 72,695,380 (GRCm39)		probably benign	Het
Arid2	T	A	15: 96,299,930 (GRCm39)	F1814L	possibly damaging	Het
Asb15	C	T	6: 24,566,163 (GRCm39)	A372V	probably damaging	Het
Atg16l1	A	T	1: 87,709,421 (GRCm39)	D403V	possibly damaging	Het
Bnc2	T	C	4: 84,211,433 (GRCm39)	D407G	probably benign	Het
Ccdc121	T	C	5: 31,643,312 (GRCm39)		probably benign	Het
Cdan1	A	G	2: 120,556,526 (GRCm39)	V633A	probably benign	Het
Cfap46	T	C	7: 139,185,571 (GRCm39)	Y2482C	unknown	Het
Chd8	T	C	14: 52,439,761 (GRCm39)	E964G	probably benign	Het
Cyp2s1	A	G	7: 25,508,683 (GRCm39)	V253A	probably damaging	Het
Depdc1b	A	G	13: 108,460,443 (GRCm39)	N18D	probably damaging	Het
Fis1	T	A	5: 136,991,048 (GRCm39)	V4E	probably damaging	Het
Gba2	T	A	4: 43,570,424 (GRCm39)		probably null	Het
Gm2381	C	T	7: 42,469,504 (GRCm39)	G207R	probably damaging	Het
Gpr89	T	A	3: 96,804,640 (GRCm39)		probably benign	Het
Gtf2i	A	G	5: 134,290,691 (GRCm39)		probably benign	Het
Herc2	T	G	7: 55,762,958 (GRCm39)	S896A	probably damaging	Het
Huwe1	T	C	X: 150,659,309 (GRCm39)	S921P	probably damaging	Het
Iqgap1	T	A	7: 80,386,143 (GRCm39)	K936I	probably damaging	Het
Kcna4	T	A	2: 107,125,927 (GRCm39)	Y220*	probably null	Het
Krt18	A	G	15: 101,937,920 (GRCm39)	D139G	possibly damaging	Het
Krt87	T	C	15: 101,384,921 (GRCm39)	N392D	probably damaging	Het
Lamc2	T	A	1: 153,019,622 (GRCm39)	I440F	possibly damaging	Het
Lrrc28	T	C	7: 67,267,833 (GRCm39)	N98S	probably damaging	Het
Lrrk1	G	A	7: 65,942,084 (GRCm39)	A718V	probably damaging	Het
Mrgprx2	T	C	7: 48,132,666 (GRCm39)	I51V	probably damaging	Het
Myt1	A	T	2: 181,424,408 (GRCm39)	R25*	probably null	Het
Npdc1	C	T	2: 25,298,021 (GRCm39)	T199I	probably benign	Het
Nup98	T	A	7: 101,801,660 (GRCm39)	Y755F	probably damaging	Het
Or51q1c	A	G	7: 103,652,446 (GRCm39)		probably null	Het
Or5p69	T	A	7: 107,966,996 (GRCm39)	C100S	probably damaging	Het
Or5p76	G	T	7: 108,122,289 (GRCm39)	N289K	probably damaging	Het
Or8g22	T	A	9: 38,957,996 (GRCm39)	M240L	probably benign	Het
Osgin1	A	T	8: 120,172,211 (GRCm39)	Y335F	probably damaging	Het
Pde10a	A	T	17: 9,161,797 (GRCm39)	I493F	probably damaging	Het
Pdgfrb	A	G	18: 61,212,780 (GRCm39)	I895V	probably benign	Het
Peg10	T	TCCCCANNANNNN	6: 4,756,475 (GRCm39)		probably benign	Het
Pidd1	A	T	7: 141,020,726 (GRCm39)	L457*	probably null	Het
Pik3c2a	A	G	7: 115,945,482 (GRCm39)		probably benign	Het
Pkd1l3	C	G	8: 110,350,281 (GRCm39)	D375E	possibly damaging	Het
Plcg1	C	T	2: 160,595,283 (GRCm39)		probably benign	Het
Prr13	A	C	15: 102,370,650 (GRCm39)	*138C	probably null	Het
Prrc2b	T	C	2: 32,119,267 (GRCm39)		probably benign	Het
Psph	T	C	5: 129,868,633 (GRCm39)		probably benign	Het
Ripor1	A	G	8: 106,344,746 (GRCm39)		probably benign	Het
Scg3	A	G	9: 75,576,617 (GRCm39)	S253P	probably damaging	Het
Sema6a	G	A	18: 47,423,112 (GRCm39)		probably null	Het
Sgk1	A	G	10: 21,758,556 (GRCm39)	N7D	probably damaging	Het
Skor2	T	C	18: 76,964,255 (GRCm39)	F940L	probably benign	Het
Slbp	T	C	5: 33,802,833 (GRCm39)		probably benign	Het
Snrnp40	C	G	4: 130,271,836 (GRCm39)		probably null	Het
Susd5	A	T	9: 113,911,603 (GRCm39)	H171L	possibly damaging	Het
Sybu	T	C	15: 44,536,664 (GRCm39)	E354G	probably benign	Het
Synpo	T	C	18: 60,735,412 (GRCm39)	N845D	possibly damaging	Het
Tdrd6	A	T	17: 43,939,050 (GRCm39)	I666N	probably damaging	Het
Tm9sf4	T	C	2: 153,029,285 (GRCm39)	I111T	probably benign	Het
Tnc	T	C	4: 63,926,971 (GRCm39)	T852A	probably benign	Het
Tnfrsf10b	T	A	14: 70,013,625 (GRCm39)	I185K	probably damaging	Het
Tnks1bp1	A	G	2: 84,892,974 (GRCm39)	E305G	possibly damaging	Het
Tnrc6b	T	C	15: 80,668,959 (GRCm39)	V22A	probably benign	Het
Ttn	A	T	2: 76,598,956 (GRCm39)	F19319Y	probably damaging	Het
Ubr5	T	C	15: 38,031,051 (GRCm39)		probably benign	Het
Ugt2b5	T	A	5: 87,287,627 (GRCm39)	Q191L	probably benign	Het
Urod	T	C	4: 116,848,473 (GRCm39)	T300A	probably benign	Het
Vmn1r213	A	G	13: 23,195,564 (GRCm39)		probably benign	Het
Znfx1	G	A	2: 166,889,574 (GRCm39)	Q723*	probably null	Het

Other mutations in L3mbtl4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01626:L3mbtl4	APN	17	68,937,197 (GRCm39)	missense	probably damaging	1.00
IGL02274:L3mbtl4	APN	17	69,071,579 (GRCm39)	missense	probably benign	0.01
IGL02304:L3mbtl4	APN	17	68,894,180 (GRCm39)	nonsense	probably null
IGL02473:L3mbtl4	APN	17	68,866,772 (GRCm39)	missense	possibly damaging	0.93
IGL02543:L3mbtl4	APN	17	68,768,607 (GRCm39)	splice site	probably benign
IGL02706:L3mbtl4	APN	17	68,793,914 (GRCm39)	missense	probably damaging	1.00
IGL02729:L3mbtl4	APN	17	68,791,738 (GRCm39)	missense	probably benign	0.23
IGL02817:L3mbtl4	APN	17	68,937,249 (GRCm39)	missense	probably benign	0.30
IGL03237:L3mbtl4	APN	17	69,084,856 (GRCm39)	missense	probably damaging	1.00
IGL03371:L3mbtl4	APN	17	68,768,563 (GRCm39)	missense	probably damaging	1.00
R0092:L3mbtl4	UTSW	17	68,732,698 (GRCm39)	missense	probably benign	0.01
R0389:L3mbtl4	UTSW	17	68,762,775 (GRCm39)	missense	probably damaging	1.00
R0504:L3mbtl4	UTSW	17	69,084,907 (GRCm39)	missense	probably benign	0.07
R0598:L3mbtl4	UTSW	17	68,766,768 (GRCm39)	missense	probably benign	0.04
R0652:L3mbtl4	UTSW	17	69,081,286 (GRCm39)	missense	probably damaging	1.00
R0842:L3mbtl4	UTSW	17	68,793,957 (GRCm39)	missense	probably benign	0.19
R1900:L3mbtl4	UTSW	17	68,766,800 (GRCm39)	missense	probably damaging	0.99
R2065:L3mbtl4	UTSW	17	68,732,687 (GRCm39)	missense	probably benign	0.04
R2173:L3mbtl4	UTSW	17	68,894,188 (GRCm39)	missense	probably damaging	1.00
R2987:L3mbtl4	UTSW	17	68,666,513 (GRCm39)	missense	possibly damaging	0.89
R3119:L3mbtl4	UTSW	17	68,732,669 (GRCm39)	missense	probably benign	0.02
R3153:L3mbtl4	UTSW	17	68,764,243 (GRCm39)	nonsense	probably null
R4044:L3mbtl4	UTSW	17	69,084,909 (GRCm39)	missense	possibly damaging	0.63
R4579:L3mbtl4	UTSW	17	69,071,635 (GRCm39)	missense	probably benign
R4717:L3mbtl4	UTSW	17	68,762,708 (GRCm39)	missense	probably null	0.67
R4798:L3mbtl4	UTSW	17	68,666,475 (GRCm39)	start codon destroyed	probably null	0.03
R4831:L3mbtl4	UTSW	17	68,768,558 (GRCm39)	missense	probably damaging	0.98
R4852:L3mbtl4	UTSW	17	68,866,748 (GRCm39)	missense	probably damaging	1.00
R5226:L3mbtl4	UTSW	17	69,071,717 (GRCm39)	critical splice donor site	probably null
R5402:L3mbtl4	UTSW	17	68,762,769 (GRCm39)	missense	probably damaging	1.00
R5604:L3mbtl4	UTSW	17	69,084,917 (GRCm39)	missense	probably benign	0.01
R6377:L3mbtl4	UTSW	17	69,084,918 (GRCm39)	missense	probably benign	0.04
R6708:L3mbtl4	UTSW	17	68,937,253 (GRCm39)	missense	probably benign	0.19
R6853:L3mbtl4	UTSW	17	69,084,915 (GRCm39)	missense	probably damaging	0.97
R6905:L3mbtl4	UTSW	17	69,084,883 (GRCm39)	missense	probably benign	0.05
R7018:L3mbtl4	UTSW	17	68,793,938 (GRCm39)	missense	probably damaging	1.00
R7045:L3mbtl4	UTSW	17	68,768,561 (GRCm39)	missense	probably benign	0.00
R7047:L3mbtl4	UTSW	17	68,768,561 (GRCm39)	missense	probably benign	0.00
R7049:L3mbtl4	UTSW	17	68,768,561 (GRCm39)	missense	probably benign	0.00
R7419:L3mbtl4	UTSW	17	68,948,537 (GRCm39)	missense	probably benign	0.28
R8271:L3mbtl4	UTSW	17	68,793,938 (GRCm39)	missense	probably damaging	1.00
R8493:L3mbtl4	UTSW	17	68,937,239 (GRCm39)	missense	probably damaging	1.00
R8863:L3mbtl4	UTSW	17	68,986,419 (GRCm39)	missense	probably benign
R8891:L3mbtl4	UTSW	17	68,762,781 (GRCm39)	missense	possibly damaging	0.60
R8996:L3mbtl4	UTSW	17	68,769,997 (GRCm39)	missense	probably benign	0.00
R9598:L3mbtl4	UTSW	17	68,866,767 (GRCm39)	missense	probably benign	0.08
R9789:L3mbtl4	UTSW	17	68,766,794 (GRCm39)	missense	probably benign	0.16
X0063:L3mbtl4	UTSW	17	68,937,248 (GRCm39)	missense	probably benign	0.37
Z1176:L3mbtl4	UTSW	17	68,732,682 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCCCCATACTGATTAAGGTCACCAC -3'
(R):5'- GGCAGCAATGACTTCTCACATCCG -3'

Sequencing Primer
(F):5'- ATACTGATTAAGGTCACCACTGTCC -3'
(R):5'- CTCCCACATAATAGTCTGAGAGGTG -3'

Posted On

2013-07-30