Mutagenetix > Incidental Mutation

Incidental Mutation 'R7599:L3mbtl1'

587881

Institutional Source

Beutler Lab

Gene Symbol

L3mbtl1

Ensembl Gene

ENSMUSG00000035576

Gene Name

L3MBTL1 histone methyl-lysine binding protein

Synonyms

L3MBTL1

MMRRC Submission

045673-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7599 (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 C at 162806434 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Proline at position 442 (T442P)

Ref Sequence

ENSEMBL: ENSMUSP00000044038 (fasta)

Gene Model

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

AlphaFold

A2A5N8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000035751
AA Change: T442P

PolyPhen 2 Score 0.705 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000044038
Gene: ENSMUSG00000035576
AA Change: T442P

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts3	T	C	5: 90,009,256 (GRCm39)	S136G	probably benign	Het
Apba3	T	A	10: 81,108,180 (GRCm39)	N445K	probably damaging	Het
Aqp6	A	G	15: 99,501,652 (GRCm39)	K237E	possibly damaging	Het
Arhgap23	A	G	11: 97,391,169 (GRCm39)	T1229A	probably benign	Het
Bpifb1	T	C	2: 154,056,071 (GRCm39)	I379T	probably damaging	Het
Bpnt2	G	A	4: 4,778,207 (GRCm39)	T177I	probably damaging	Het
Ccdc169	A	G	3: 55,047,530 (GRCm39)	D7G	probably damaging	Het
Cyp2f2	T	A	7: 26,830,784 (GRCm39)		probably null	Het
Daam2	T	A	17: 49,787,755 (GRCm39)	K453*	probably null	Het
Dennd4c	T	C	4: 86,729,849 (GRCm39)	L817P	probably damaging	Het
Efcab6	T	A	15: 83,755,189 (GRCm39)	R1376W	probably damaging	Het
Esrra	G	T	19: 6,891,214 (GRCm39)	A182E	possibly damaging	Het
Fam234b	T	A	6: 135,203,874 (GRCm39)	V392E	probably damaging	Het
Fanca	A	G	8: 123,997,999 (GRCm39)	V1229A	probably benign	Het
Fdps	G	T	3: 89,006,693 (GRCm39)	Q66K	probably benign	Het
Fer1l6	T	A	15: 58,499,438 (GRCm39)	D1269E	probably benign	Het
Foxred1	G	A	9: 35,116,932 (GRCm39)	R353W	probably damaging	Het
Gabrg2	C	T	11: 41,858,451 (GRCm39)	V226I	possibly damaging	Het
Gcnt2	C	A	13: 41,014,343 (GRCm39)	C171*	probably null	Het
Glyat	C	A	19: 12,617,172 (GRCm39)	A8E	probably damaging	Het
Golgb1	C	A	16: 36,695,758 (GRCm39)	R86S	unknown	Het
Hc	T	A	2: 34,940,431 (GRCm39)	T136S	probably damaging	Het
Hdac1	G	T	4: 129,411,259 (GRCm39)	S421*	probably null	Het
Hmcn2	G	T	2: 31,246,298 (GRCm39)	A756S	possibly damaging	Het
Igkv8-26	A	G	6: 70,170,571 (GRCm39)	N54S	probably benign	Het
Itgae	T	A	11: 73,012,786 (GRCm39)	V706E	possibly damaging	Het
Itgax	G	A	7: 127,747,262 (GRCm39)	V992M	probably damaging	Het
Klk10	A	G	7: 43,433,851 (GRCm39)	D221G	probably benign	Het
Klkb1	T	C	8: 45,731,150 (GRCm39)	I205V	probably benign	Het
Kpna2	T	C	11: 106,889,583 (GRCm39)	N8S	probably null	Het
Lrp1b	C	T	2: 40,551,561 (GRCm39)	C4181Y		Het
Mcat	T	C	15: 83,431,872 (GRCm39)	Y332C	probably damaging	Het
Mecom	T	C	3: 30,010,534 (GRCm39)	D648G	probably damaging	Het
Mesp2	A	T	7: 79,460,717 (GRCm39)	D14V	probably damaging	Het
Mlh3	A	T	12: 85,314,973 (GRCm39)	Y404*	probably null	Het
Mterf3	A	T	13: 67,065,212 (GRCm39)	F230I	probably damaging	Het
Nrxn3	T	C	12: 89,478,832 (GRCm39)	V602A	probably benign	Het
Or4a74	T	A	2: 89,439,571 (GRCm39)	I292F	possibly damaging	Het
Plekhg6	A	G	6: 125,351,623 (GRCm39)	F209L	probably damaging	Het
Pmp22	C	A	11: 63,049,174 (GRCm39)	A139D	probably damaging	Het
Polr2e	T	C	10: 79,874,404 (GRCm39)	D34G	possibly damaging	Het
Ppard	T	A	17: 28,516,091 (GRCm39)	L105H	probably damaging	Het
Ptpn14	T	A	1: 189,582,942 (GRCm39)	D596E	probably benign	Het
Ptprz1	C	T	6: 23,002,518 (GRCm39)	A1536V	not run	Het
Qng1	T	A	13: 58,529,649 (GRCm39)	H321L	probably damaging	Het
Rabgap1	TGGGG	TGGG	2: 37,392,908 (GRCm39)		probably null	Het
Retreg1	T	A	15: 25,971,727 (GRCm39)	D222E	probably benign	Het
Rmnd1	T	C	10: 4,363,404 (GRCm39)	K282R	probably benign	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,229,111 (GRCm39)		probably benign	Het
Sall3	C	T	18: 81,015,267 (GRCm39)	R887H	possibly damaging	Het
Samd3	A	G	10: 26,139,711 (GRCm39)	D281G	probably benign	Het
Scube1	T	A	15: 83,497,653 (GRCm39)	D766V	probably damaging	Het
Sec24b	TGC	TGCAGC	3: 129,834,460 (GRCm39)		probably benign	Het
Slc2a2	A	G	3: 28,752,166 (GRCm39)	M1V	probably null	Het
Slc39a2	A	T	14: 52,132,488 (GRCm39)	T144S	probably benign	Het
Slc5a9	T	C	4: 111,734,937 (GRCm39)	H619R	probably benign	Het
Slco4a1	T	C	2: 180,113,048 (GRCm39)	F427L	probably benign	Het
Snapc3	C	A	4: 83,336,073 (GRCm39)	Y28*	probably null	Het
St3gal6	C	T	16: 58,293,800 (GRCm39)	R243H	probably benign	Het
Stat2	T	A	10: 128,113,066 (GRCm39)	N119K	possibly damaging	Het
Syne2	G	C	12: 76,013,145 (GRCm39)	V2779L	probably benign	Het
Tacc1	T	A	8: 25,691,301 (GRCm39)	M1L	probably damaging	Het
Tbc1d32	A	T	10: 56,027,929 (GRCm39)	F724L	possibly damaging	Het
Ttc23l	A	G	15: 10,533,766 (GRCm39)	I259T	possibly damaging	Het
Ucn2	T	C	9: 108,815,292 (GRCm39)	I18T	probably benign	Het
Wdr35	G	C	12: 9,074,886 (GRCm39)	A1000P	probably benign	Het
Wnk1	C	A	6: 119,906,789 (GRCm39)	C244F	possibly damaging	Het
Zeb2	T	G	2: 44,884,625 (GRCm39)	D1022A	probably damaging	Het
Zfp26	A	T	9: 20,349,129 (GRCm39)	H478Q	probably damaging	Het
Zfp410	A	G	12: 84,378,630 (GRCm39)	K265R	probably benign	Het
Zfp575	T	C	7: 24,286,093 (GRCm39)	D21G	probably benign	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
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
R9688:L3mbtl1	UTSW	2	162,790,697 (GRCm39)	missense	possibly damaging	0.90

Predicted Primers

PCR Primer
(F):5'- AGGCAATCCTTGTAGGGAAC -3'
(R):5'- GATACACGGGACAGCTCACTAC -3'

Sequencing Primer
(F):5'- GGAACCCACTCCTGTGTTTAC -3'
(R):5'- GGGACAGCTCACTACCTACTC -3'

Posted On

2019-10-24