Mutagenetix > Incidental Mutations

Incidental Mutation 'R7047:L3mbtl4'

547396

Institutional Source

Beutler Lab

Gene Symbol

L3mbtl4

Ensembl Gene

ENSMUSG00000041565

Gene Name

L3MBTL4 histone methyl-lysine binding protein

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7047 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

68273797-68777961 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 68461566 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 223 (R223L)

Ref Sequence

ENSEMBL: ENSMUSP00000117626 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000093007
AA Change: R223L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000094892
Gene: ENSMUSG00000041565
AA Change: R223L

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 benign
Transcript: ENSMUST00000124543
AA Change: R223L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000121045
Gene: ENSMUSG00000041565
AA Change: R223L

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

probably benign
Transcript: ENSMUST00000139383
AA Change: R223L

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000117626
Gene: ENSMUSG00000041565
AA Change: R223L

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: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

98% (53/54)

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	A	T	14: 32,660,174	I1278N	possibly damaging	Het
Adcy5	T	A	16: 35,267,215	L482Q	probably damaging	Het
Adora2a	A	G	10: 75,326,311	I95V	probably damaging	Het
Anapc1	A	C	2: 128,615,430	C1887G	probably damaging	Het
Arfgef2	T	A	2: 166,851,945		probably null	Het
Capn11	G	T	17: 45,638,696	S448*	probably null	Het
Capn7	C	T	14: 31,336,685		probably benign	Het
Cep55	T	A	19: 38,060,091	V65D	possibly damaging	Het
Col5a1	A	G	2: 27,928,084	K107R	unknown	Het
Dbh	T	A	2: 27,165,610	I32N	possibly damaging	Het
Disp1	C	A	1: 183,087,466	R1130L	probably damaging	Het
Dzip3	A	T	16: 48,982,126	N13K	probably benign	Het
Emilin1	A	G	5: 30,917,078	N221S	probably benign	Het
Ext2	A	G	2: 93,739,657	F470L	probably damaging	Het
Fam71f1	T	A	6: 29,323,810	L178H	probably damaging	Het
Filip1	T	A	9: 79,853,634	Q206L	probably damaging	Het
Gpr63	G	T	4: 25,007,320	A15S	probably benign	Het
Grhl3	T	C	4: 135,549,240		probably null	Het
Hspa5	C	T	2: 34,773,192	P127L	probably damaging	Het
Ift172	G	T	5: 31,275,894	Y193*	probably null	Het
Ints1	A	C	5: 139,758,471	L1512*	probably null	Het
Kat2b	A	G	17: 53,663,569	Q661R	probably benign	Het
Kat6a	A	G	8: 22,938,538	N1303S	possibly damaging	Het
Maml2	T	C	9: 13,620,881		probably benign	Het
Mixl1	A	G	1: 180,696,618		probably null	Het
Mocs1	T	C	17: 49,452,859		probably null	Het
Ms4a15	T	G	19: 10,984,872	N36T	probably damaging	Het
Msr1	G	A	8: 39,642,616	T2I	possibly damaging	Het
Nlgn1	A	C	3: 25,436,035	Y509*	probably null	Het
Nsmce1	C	A	7: 125,491,434	G4C	probably benign	Het
Olfr1218	A	T	2: 89,055,146	F93L	probably damaging	Het
Olfr621-ps1	A	G	7: 103,629,711	V83A	probably damaging	Het
Pan3	G	A	5: 147,546,365	G452D	probably damaging	Het
Pcyox1	G	T	6: 86,388,909	P441H	probably damaging	Het
Phf12	T	C	11: 78,013,273	V273A	probably damaging	Het
Plcd4	A	G	1: 74,551,989	E181G	possibly damaging	Het
Ptgfr	A	T	3: 151,835,541	I110N	possibly damaging	Het
Rab40c	A	C	17: 25,919,484	V8G	probably damaging	Het
Rasal3	T	A	17: 32,396,484	Y460F	probably damaging	Het
Rhbdf2	A	G	11: 116,603,651		probably null	Het
Ryr2	T	A	13: 11,824,400	N496Y	possibly damaging	Het
Sacs	A	T	14: 61,213,002	I4166F	probably damaging	Het
Sh2d3c	T	C	2: 32,721,160	M1T	probably null	Het
Smarca2	C	T	19: 26,669,155	S651L	possibly damaging	Het
Sned1	A	T	1: 93,285,818	R1204S	possibly damaging	Het
Spata31d1b	T	C	13: 59,712,435	Y41H	probably damaging	Het
Stab2	C	T	10: 86,858,152	C2075Y	probably damaging	Het
Tcte1	A	T	17: 45,533,368	Q90L	possibly damaging	Het
Tll2	C	T	19: 41,086,240	G945S	probably damaging	Het
Tmbim7	A	T	5: 3,670,112	T116S	probably benign	Het
Tnfrsf19	A	T	14: 61,005,218	C72*	probably null	Het
Usp17le	T	A	7: 104,768,433	T501S	probably benign	Het
Wnt5b	T	A	6: 119,448,256		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
R7018:L3mbtl4	UTSW	17	68486943	missense	probably damaging	1.00
R7045: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
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'- GCTCAGTCCTGTTGGTTGAC -3'
(R):5'- AAAAGTCCCCTATCTGCTGCC -3'

Sequencing Primer
(F):5'- CAGTCCTGTTGGTTGACCTGTTTG -3'
(R):5'- ACAGAGGGCTGCTCATTAATTC -3'

Posted On

2019-05-13