Mutagenetix > Incidental Mutation

Incidental Mutation 'R9688:L3mbtl1'

728958

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 #

R9688 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

162785392-162816442 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 162790697 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 81 (I81L)

Ref Sequence

ENSEMBL: ENSMUSP00000116118 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035751] [ENSMUST00000124264] [ENSMUST00000156954]

AlphaFold

A2A5N8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000035751
AA Change: I208L

PolyPhen 2 Score 0.903 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000044038
Gene: ENSMUSG00000035576
AA Change: I208L

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000124264
AA Change: I81L

PolyPhen 2 Score 0.903 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000116118
Gene: ENSMUSG00000035576
AA Change: I81L

Domain	Start	End	E-Value	Type
low complexity region	107	115	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000156954
AA Change: I208L

PolyPhen 2 Score 0.903 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000123217
Gene: ENSMUSG00000035576
AA Change: I208L

Domain	Start	End	E-Value	Type
low complexity region	234	242	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700093K21Rik	A	G	11: 23,469,067 (GRCm39)		probably null	Het
Abca2	G	C	2: 25,324,459 (GRCm39)	A272P	possibly damaging	Het
Adarb1	T	A	10: 77,147,099 (GRCm39)	D479V	probably damaging	Het
Amz2	T	C	11: 109,320,765 (GRCm39)	F162S	probably damaging	Het
Ano4	A	T	10: 89,180,506 (GRCm39)	M1K	probably null	Het
Antxr1	G	A	6: 87,114,334 (GRCm39)	R478C	probably damaging	Het
Apobr	T	C	7: 126,186,663 (GRCm39)	S725P	probably benign	Het
Arap2	A	T	5: 62,872,109 (GRCm39)	D506E	probably damaging	Het
Ash1l	T	G	3: 88,892,024 (GRCm39)	I1301S	probably damaging	Het
Camk1g	T	A	1: 193,031,029 (GRCm39)	R305W	probably damaging	Het
Ces2g	A	T	8: 105,691,304 (GRCm39)	I147F	probably benign	Het
Cfap61	T	C	2: 145,878,758 (GRCm39)	F505L	probably damaging	Het
Cndp1	G	C	18: 84,655,982 (GRCm39)	N62K	probably benign	Het
Cog6	G	T	3: 52,916,528 (GRCm39)	Q214K	probably benign	Het
Depdc5	T	A	5: 33,055,276 (GRCm39)	Y226*	probably null	Het
Elp5	T	A	11: 69,861,425 (GRCm39)	I185F	probably damaging	Het
Ercc6	A	C	14: 32,297,755 (GRCm39)	H1334P	probably benign	Het
Ern1	T	C	11: 106,349,836 (GRCm39)	T27A	possibly damaging	Het
Esf1	A	T	2: 140,010,095 (GRCm39)	D80E	probably damaging	Het
Evpl	T	C	11: 116,124,986 (GRCm39)	K159E	probably damaging	Het
Gbx1	T	C	5: 24,731,510 (GRCm39)	Y102C	probably damaging	Het
Gjd2	A	G	2: 113,842,109 (GRCm39)	S123P	probably benign	Het
H2-M11	A	G	17: 36,859,054 (GRCm39)	Y198C	probably damaging	Het
Hps1	A	C	19: 42,755,147 (GRCm39)	V265G	probably benign	Het
Ifna16	C	A	4: 88,594,874 (GRCm39)	E74*	probably null	Het
Inca1	C	T	11: 70,579,810 (GRCm39)		probably null	Het
Jag2	A	G	12: 112,872,564 (GRCm39)	V1230A	probably benign	Het
Jam3	G	A	9: 27,010,204 (GRCm39)	T260M	probably benign	Het
Klhl5	A	T	5: 65,321,930 (GRCm39)	D652V	probably damaging	Het
Lgalsl	C	T	11: 20,779,442 (GRCm39)	A68T	probably benign	Het
Map3k14	T	A	11: 103,130,059 (GRCm39)	D286V	possibly damaging	Het
Mdn1	A	G	4: 32,745,590 (GRCm39)	I4083V	probably damaging	Het
Ms4a5	T	C	19: 11,254,058 (GRCm39)	I136M	possibly damaging	Het
Mtcl3	T	C	10: 29,072,691 (GRCm39)	V661A	possibly damaging	Het
Naa16	A	T	14: 79,573,309 (GRCm39)	Y820*	probably null	Het
Nbea	G	T	3: 55,557,165 (GRCm39)	N2537K	probably benign	Het
Ncapd3	A	G	9: 26,967,349 (GRCm39)	S562G	probably benign	Het
Or5t5	A	C	2: 86,617,005 (GRCm39)	K310N	probably damaging	Het
Or6c1b	C	A	10: 129,272,967 (GRCm39)	C95*	probably null	Het
Pcdhac2	A	G	18: 37,277,628 (GRCm39)	S203G	probably benign	Het
Pds5a	A	T	5: 65,812,196 (GRCm39)	F309I	probably benign	Het
Pdzd8	G	A	19: 59,333,683 (GRCm39)	L113F	probably benign	Het
Pex12	T	C	11: 83,189,257 (GRCm39)	Y4C	possibly damaging	Het
Ppfibp2	A	G	7: 107,318,448 (GRCm39)	D332G	probably benign	Het
Psg23	A	T	7: 18,344,547 (GRCm39)	W303R	probably damaging	Het
Pyy	T	A	11: 101,998,099 (GRCm39)	D27V	probably damaging	Het
Rc3h1	A	G	1: 160,770,234 (GRCm39)	Q302R	probably damaging	Het
Rhoh	A	G	5: 66,049,656 (GRCm39)		probably benign	Het
Samd9l	A	G	6: 3,377,087 (GRCm39)	M58T	probably damaging	Het
Scaf11	A	C	15: 96,313,808 (GRCm39)	H1324Q	probably damaging	Het
Serinc2	C	A	4: 130,158,133 (GRCm39)	A105S	probably damaging	Het
Setx	A	T	2: 29,036,328 (GRCm39)	S938C	probably damaging	Het
Sgo2a	A	T	1: 58,056,737 (GRCm39)	T974S	probably damaging	Het
Sh3rf1	T	C	8: 61,679,348 (GRCm39)	V130A	probably benign	Het
Slc43a2	T	C	11: 75,434,112 (GRCm39)	F97L	probably damaging	Het
Slc9a9	C	A	9: 95,111,107 (GRCm39)	Q642K	probably benign	Het
Sox6	G	T	7: 115,076,225 (GRCm39)	D804E	probably benign	Het
Tbx15	A	T	3: 99,233,708 (GRCm39)	R290S	possibly damaging	Het
Tent4a	A	G	13: 69,655,199 (GRCm39)	L425P	probably damaging	Het
Terf2	A	G	8: 107,821,543 (GRCm39)	S176P	probably damaging	Het
Ttc6	A	T	12: 57,720,602 (GRCm39)	H956L	possibly damaging	Het
Tti2	T	C	8: 31,644,279 (GRCm39)	V292A	probably damaging	Het
Vmn1r29	A	T	6: 58,284,739 (GRCm39)	E153V	probably benign	Het
Vmn1r55	G	T	7: 5,149,669 (GRCm39)	H251Q	probably benign	Het
Yeats4	T	C	10: 117,051,586 (GRCm39)	T224A	probably benign	Het
Yipf4	T	A	17: 74,806,078 (GRCm39)	F239Y	probably benign	Het
Zan	T	C	5: 137,466,717 (GRCm39)	D380G	probably damaging	Het
Zbtb9	T	C	17: 27,193,894 (GRCm39)	F433S	probably damaging	Het
Zic5	T	C	14: 122,701,435 (GRCm39)	K432R	unknown	Het

Other mutations in L3mbtl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00236:L3mbtl1	APN	2	162,808,983 (GRCm39)	missense	probably damaging	1.00
IGL01090:L3mbtl1	APN	2	162,807,925 (GRCm39)	missense	probably damaging	1.00
IGL01291:L3mbtl1	APN	2	162,812,100 (GRCm39)	missense	probably benign	0.30
IGL02897:L3mbtl1	APN	2	162,807,692 (GRCm39)	missense	probably damaging	1.00
IGL02974:L3mbtl1	APN	2	162,812,103 (GRCm39)	missense	possibly damaging	0.68
IGL02986:L3mbtl1	APN	2	162,812,225 (GRCm39)	missense	probably damaging	1.00
IGL03057:L3mbtl1	APN	2	162,809,303 (GRCm39)	missense	probably damaging	1.00
IGL03372:L3mbtl1	APN	2	162,813,077 (GRCm39)	splice site	probably benign
ANU05:L3mbtl1	UTSW	2	162,812,100 (GRCm39)	missense	probably benign	0.30
R0006:L3mbtl1	UTSW	2	162,806,489 (GRCm39)	missense	possibly damaging	0.94
R0006:L3mbtl1	UTSW	2	162,806,489 (GRCm39)	missense	possibly damaging	0.94
R0067:L3mbtl1	UTSW	2	162,790,748 (GRCm39)	missense	probably damaging	1.00
R0067:L3mbtl1	UTSW	2	162,790,748 (GRCm39)	missense	probably damaging	1.00
R0078:L3mbtl1	UTSW	2	162,789,146 (GRCm39)	missense	probably benign	0.12
R0505:L3mbtl1	UTSW	2	162,789,255 (GRCm39)	splice site	probably benign
R0748:L3mbtl1	UTSW	2	162,813,084 (GRCm39)	critical splice acceptor site	probably null
R0748:L3mbtl1	UTSW	2	162,813,083 (GRCm39)	splice site	probably benign
R0761:L3mbtl1	UTSW	2	162,807,967 (GRCm39)	missense	probably damaging	1.00
R1789:L3mbtl1	UTSW	2	162,816,422 (GRCm39)	missense	probably benign
R1970:L3mbtl1	UTSW	2	162,801,492 (GRCm39)	missense	probably damaging	1.00
R2114:L3mbtl1	UTSW	2	162,801,990 (GRCm39)	splice site	probably null
R2115:L3mbtl1	UTSW	2	162,801,990 (GRCm39)	splice site	probably null
R2116:L3mbtl1	UTSW	2	162,801,990 (GRCm39)	splice site	probably null
R2117:L3mbtl1	UTSW	2	162,801,990 (GRCm39)	splice site	probably null
R2513:L3mbtl1	UTSW	2	162,809,505 (GRCm39)	missense	probably benign
R3848:L3mbtl1	UTSW	2	162,790,121 (GRCm39)	missense	probably damaging	1.00
R4877:L3mbtl1	UTSW	2	162,790,488 (GRCm39)	missense	probably damaging	0.98
R4930:L3mbtl1	UTSW	2	162,807,692 (GRCm39)	missense	probably damaging	1.00
R5930:L3mbtl1	UTSW	2	162,809,256 (GRCm39)	small deletion	probably benign
R5932:L3mbtl1	UTSW	2	162,809,256 (GRCm39)	small deletion	probably benign
R6562:L3mbtl1	UTSW	2	162,812,124 (GRCm39)	missense	probably benign	0.28
R6601:L3mbtl1	UTSW	2	162,790,095 (GRCm39)	start gained	probably benign
R6995:L3mbtl1	UTSW	2	162,803,368 (GRCm39)	missense	probably damaging	1.00
R7188:L3mbtl1	UTSW	2	162,791,460 (GRCm39)	critical splice donor site	probably null
R7346:L3mbtl1	UTSW	2	162,808,926 (GRCm39)	missense	probably benign	0.01
R7379:L3mbtl1	UTSW	2	162,802,899 (GRCm39)	missense	probably damaging	1.00
R7474:L3mbtl1	UTSW	2	162,808,524 (GRCm39)	missense	probably damaging	1.00
R7553:L3mbtl1	UTSW	2	162,790,151 (GRCm39)	missense	probably benign	0.01
R7599:L3mbtl1	UTSW	2	162,806,434 (GRCm39)	missense	possibly damaging	0.70
R8745:L3mbtl1	UTSW	2	162,812,137 (GRCm39)	missense	probably benign	0.08
R8910:L3mbtl1	UTSW	2	162,812,213 (GRCm39)	missense	probably benign	0.00
R9039:L3mbtl1	UTSW	2	162,807,988 (GRCm39)	missense	probably damaging	1.00
R9216:L3mbtl1	UTSW	2	162,806,972 (GRCm39)	missense	probably benign	0.04
R9253:L3mbtl1	UTSW	2	162,789,632 (GRCm39)	missense	probably benign	0.00
R9483:L3mbtl1	UTSW	2	162,790,734 (GRCm39)	missense	probably benign	0.01
R9509:L3mbtl1	UTSW	2	162,809,303 (GRCm39)	missense	probably damaging	1.00
R9683:L3mbtl1	UTSW	2	162,812,228 (GRCm39)	missense	possibly damaging	0.88

Predicted Primers

PCR Primer
(F):5'- CAACAAAGTAGTGGCCTAGACG -3'
(R):5'- CCCCTATCTTGGATTGACACG -3'

Sequencing Primer
(F):5'- CTAGACGTTGGTTCATCGGGAGAC -3'
(R):5'- CCCTATCTTGGATTGACACGAATACG -3'

Posted On

2022-10-06