Mutagenetix > Incidental Mutation

Incidental Mutation 'R7018:L3mbtl4'

545474

Institutional Source

Beutler Lab

Gene Symbol

L3mbtl4

Ensembl Gene

ENSMUSG00000041565

Gene Name

L3MBTL4 histone methyl-lysine binding protein

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7018 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

68273797-68777961 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 68486943 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 314 (R314H)

Ref Sequence

ENSEMBL: ENSMUSP00000121045 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000093007] [ENSMUST00000124543] [ENSMUST00000139383]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000093007
AA Change: R314H

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

SMART Domains

Protein: ENSMUSP00000094892
Gene: ENSMUSG00000041565
AA Change: R314H

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000124543
AA Change: R314H

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

SMART Domains

Protein: ENSMUSP00000121045
Gene: ENSMUSG00000041565
AA Change: R314H

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	376	407	3.3e-15	PFAM

Predicted Effect

silent
Transcript: ENSMUST00000139383

SMART Domains

Protein: ENSMUSP00000117626
Gene: ENSMUSG00000041565

Domain	Start	End	E-Value	Type
MBT	52	152	2.24e-46	SMART
MBT	160	260	6.29e-41	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (64/64)

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apcdd1	G	T	18: 62,937,049	R129L	probably damaging	Het
Arhgef28	C	T	13: 97,965,435	V844I	probably damaging	Het
Arhgef5	T	C	6: 43,288,731	V1569A	probably damaging	Het
Atr	T	A	9: 95,866,694	S431T	probably benign	Het
Cdh11	T	C	8: 102,634,321	D795G	possibly damaging	Het
Crygf	T	C	1: 65,927,971	S85P	probably benign	Het
Diexf	A	G	1: 193,114,855	I563T	probably benign	Het
Dip2c	T	A	13: 9,659,278	Y1385N	probably damaging	Het
Dnah14	G	A	1: 181,626,944	V840I	possibly damaging	Het
Dsg1a	T	C	18: 20,328,738	F299L	possibly damaging	Het
Fgfr4	A	T	13: 55,166,200	S576C	probably damaging	Het
Frmd8	T	C	19: 5,869,518	D167G	probably damaging	Het
Gm5105	G	A	3: 138,049,558	T89I	unknown	Het
Grhl1	C	T	12: 24,575,997	S35L	possibly damaging	Het
Gsn	A	G	2: 35,293,506	E242G	probably benign	Het
Hcrtr1	A	G	4: 130,135,868	I140T	probably damaging	Het
Ifnlr1	T	C	4: 135,703,824	Y208H	possibly damaging	Het
Ighv1-58	T	C	12: 115,312,365	Y51C	probably damaging	Het
Iqcj	T	A	3: 68,041,247	Y21*	probably null	Het
Kcnc4	T	C	3: 107,458,862	Y10C	probably benign	Het
Kcnk7	G	T	19: 5,706,132	G129W	probably damaging	Het
Kcnq2	T	A	2: 181,081,724	R620*	probably null	Het
Klk13	C	A	7: 43,726,702	P267Q	probably benign	Het
Krt1	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	15: 101,850,378		probably benign	Het
Lamc2	T	A	1: 153,136,742	M729L	probably benign	Het
Lyst	T	G	13: 13,743,459		probably null	Het
Med13l	G	A	5: 118,751,986	R1909H	probably damaging	Het
Mstn	T	A	1: 53,064,084	L193Q	possibly damaging	Het
Mylk	T	C	16: 35,000,426	V125A	possibly damaging	Het
Nalcn	T	A	14: 123,409,821	M547L	probably damaging	Het
Nckap5	A	G	1: 126,025,048	S1256P	probably damaging	Het
Nkain1	T	C	4: 130,532,118	Y189C	probably damaging	Het
Olfr1164	T	A	2: 88,093,256	I227F	probably benign	Het
Olfr193	A	G	16: 59,110,607	M1T	probably null	Het
Olfr490	T	G	7: 108,286,344	I261L	probably benign	Het
Olfr761	A	T	17: 37,952,502	I174N	probably damaging	Het
Oosp3	T	A	19: 11,699,419	D47E	probably benign	Het
Pcdh15	G	T	10: 74,466,354	G942W	probably damaging	Het
Pcyox1l	C	A	18: 61,707,554		probably benign	Het
Peg3	T	C	7: 6,708,839	E1128G	possibly damaging	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 109,624,195		probably benign	Het
Plscr1	T	A	9: 92,264,662	V119D	probably damaging	Het
Prss56	A	T	1: 87,185,948	D258V	possibly damaging	Het
Ptpn23	T	G	9: 110,385,816	K85Q	possibly damaging	Het
Ranbp3l	C	A	15: 9,007,285	S7Y	probably benign	Het
Rnf31	T	C	14: 55,592,233	L85P	probably damaging	Het
Rptn	T	C	3: 93,397,900	C847R	possibly damaging	Het
Six4	T	A	12: 73,108,953	E413D	probably benign	Het
Slc30a2	G	A	4: 134,347,415	R161Q	probably damaging	Het
Sned1	T	C	1: 93,284,421	V1115A	probably damaging	Het
Spen	T	C	4: 141,493,444	K401E	unknown	Het
Srbd1	T	A	17: 86,136,415	R128W	possibly damaging	Het
Strc	A	T	2: 121,369,058	I1300N	probably damaging	Het
Susd1	T	G	4: 59,390,627	T230P	probably benign	Het
Thumpd2	G	T	17: 81,055,897	S47*	probably null	Het
Tmprss11a	C	T	5: 86,428,570	V141I	probably damaging	Het
Tmprss15	T	C	16: 79,024,853	Y438C	possibly damaging	Het
Tnfrsf1a	T	C	6: 125,356,951	S56P	probably damaging	Het
Ttc39d	T	C	17: 80,216,181	W90R	probably benign	Het
Vmn2r111	T	C	17: 22,559,051	N549S	possibly damaging	Het
Wdr20rt	A	T	12: 65,225,762		probably null	Het
Zfp646	C	A	7: 127,882,322	Q1224K	probably benign	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
R5604:L3mbtl4	UTSW	17	68777922	missense	probably benign	0.01
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
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
R8863:L3mbtl4	UTSW	17	68679424	missense	probably benign
R8891:L3mbtl4	UTSW	17	68455786	missense	possibly damaging	0.60
R8996:L3mbtl4	UTSW	17	68463002	missense	probably benign	0.00
R9598:L3mbtl4	UTSW	17	68559772	missense	probably benign	0.08
R9789:L3mbtl4	UTSW	17	68459799	missense	probably benign	0.16
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'- GTACCACGACCATGATGCTG -3'
(R):5'- CTGAAGTCAGTCAAGGCTACATC -3'

Sequencing Primer
(F):5'- GGAACAGTGACCTGGCTTG -3'
(R):5'- GTCAGTCAAGGCTACATCCATAATGG -3'

Posted On

2019-05-13