Mutagenetix > Incidental Mutation

Incidental Mutation 'R2065:L3mbtl4'

229121

Institutional Source

Beutler Lab

Gene Symbol

L3mbtl4

Ensembl Gene

ENSMUSG00000041565

Gene Name

L3MBTL4 histone methyl-lysine binding protein

Synonyms

D930040M24Rik, A730037L19Rik

MMRRC Submission

040070-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2065 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

68580792-69087081 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 68732687 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 56 (Q56K)

Ref Sequence

ENSEMBL: ENSMUSP00000094892 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000093007
AA Change: Q56K

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000094892
Gene: ENSMUSG00000041565
AA Change: Q56K

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: Q56K

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000121045
Gene: ENSMUSG00000041565
AA Change: Q56K

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: Q56K

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000117626
Gene: ENSMUSG00000041565
AA Change: Q56K

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150573

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933436I01Rik	T	A	X: 66,964,308 (GRCm39)	I184L	probably benign	Het
9530002B09Rik	T	A	4: 122,583,115 (GRCm39)		probably benign	Het
Adh6a	T	A	3: 138,030,998 (GRCm39)	D162E	probably benign	Het
Afap1l1	A	T	18: 61,872,193 (GRCm39)		probably null	Het
AI182371	A	G	2: 34,976,441 (GRCm39)		probably null	Het
Amy2a1	T	C	3: 113,324,217 (GRCm39)	I108V	probably benign	Het
Aox1	T	C	1: 58,098,351 (GRCm39)		probably null	Het
Ap3b2	A	G	7: 81,113,522 (GRCm39)	S896P	unknown	Het
Ascc2	A	T	11: 4,631,496 (GRCm39)	M646L	probably benign	Het
Atp11b	T	A	3: 35,893,223 (GRCm39)	Y859N	probably damaging	Het
Bag3	T	A	7: 128,147,498 (GRCm39)	V371D	probably damaging	Het
Bhmt	T	C	13: 93,754,120 (GRCm39)	Y363C	probably benign	Het
Btbd6	T	C	12: 112,941,755 (GRCm39)	Y356H	probably damaging	Het
C2cd2l	C	T	9: 44,227,632 (GRCm39)	R172Q	probably benign	Het
Ccnt1	A	T	15: 98,449,823 (GRCm39)	H156Q	probably benign	Het
Clptm1l	C	T	13: 73,755,842 (GRCm39)	Q153*	probably null	Het
Cnep1r1	G	T	8: 88,845,445 (GRCm39)		probably benign	Het
Cnksr2	A	C	X: 156,728,302 (GRCm39)	S224R	possibly damaging	Het
Cyp26b1	T	C	6: 84,553,537 (GRCm39)	M206V	probably benign	Het
Dtx2	C	T	5: 136,059,431 (GRCm39)	S493F	probably damaging	Het
Ece1	A	T	4: 137,685,393 (GRCm39)	M628L	probably benign	Het
Ehd1	T	C	19: 6,348,108 (GRCm39)	L362P	probably benign	Het
Epha1	G	T	6: 42,342,987 (GRCm39)	H187Q	probably benign	Het
Erich6b	T	C	14: 75,896,351 (GRCm39)	I79T	probably benign	Het
F7	T	A	8: 13,085,183 (GRCm39)	V403D	probably damaging	Het
Fbln7	G	T	2: 128,719,386 (GRCm39)	R61L	probably damaging	Het
Fbxo41	C	T	6: 85,455,453 (GRCm39)	W577*	probably null	Het
Fbxw28	T	C	9: 109,157,292 (GRCm39)	K319E	probably benign	Het
Fgb	C	A	3: 82,956,996 (GRCm39)	D25Y	probably benign	Het
Flg2	A	G	3: 93,109,538 (GRCm39)	E522G	unknown	Het
Fmnl2	A	G	2: 52,995,549 (GRCm39)	E424G	probably damaging	Het
Gm12695	T	C	4: 96,657,963 (GRCm39)	T69A	probably benign	Het
Gm7361	A	T	5: 26,467,149 (GRCm39)	D256V	probably damaging	Het
Hpse	A	G	5: 100,846,797 (GRCm39)	S211P	probably damaging	Het
Ifnb1	T	A	4: 88,440,996 (GRCm39)	I6F	possibly damaging	Het
Il2rg	A	G	X: 100,311,416 (GRCm39)	L57P	possibly damaging	Het
Invs	T	A	4: 48,396,287 (GRCm39)	L320Q	probably damaging	Het
Iqca1	T	C	1: 90,057,953 (GRCm39)	S249G	probably benign	Het
Itpr3	G	A	17: 27,317,050 (GRCm39)	M768I	probably benign	Het
Khdc1a	T	A	1: 21,421,196 (GRCm39)	M127K	probably benign	Het
Klhl42	T	A	6: 147,003,161 (GRCm39)	W312R	probably damaging	Het
Lce1k	G	A	3: 92,714,164 (GRCm39)	Q7*	probably null	Het
Lonp2	A	G	8: 87,392,403 (GRCm39)	T490A	probably damaging	Het
Mbd1	C	A	18: 74,409,955 (GRCm39)	T373K	probably damaging	Het
Mpp4	G	A	1: 59,182,941 (GRCm39)	P322L	possibly damaging	Het
Mrto4	T	C	4: 139,076,334 (GRCm39)	K86E	probably benign	Het
Naf1	A	G	8: 67,340,432 (GRCm39)	D414G	probably damaging	Het
Nbas	T	A	12: 13,616,158 (GRCm39)	L2232Q	probably damaging	Het
Ncr1	T	C	7: 4,341,206 (GRCm39)	F29L	probably benign	Het
Nup133	C	A	8: 124,641,314 (GRCm39)	D869Y	probably damaging	Het
Or2ab1	A	G	11: 58,488,396 (GRCm39)	N58S	probably damaging	Het
Or2ag1	T	A	7: 106,313,373 (GRCm39)	R172W	probably benign	Het
Or2d3c	T	G	7: 106,526,162 (GRCm39)	Y168S	probably damaging	Het
Or4k45	A	G	2: 111,395,057 (GRCm39)	I244T	probably damaging	Het
Or5p63	T	C	7: 107,811,547 (GRCm39)	Y63C	probably damaging	Het
Or5p73	T	A	7: 108,064,875 (GRCm39)	C115S	possibly damaging	Het
Orc2	A	G	1: 58,508,854 (GRCm39)	V431A	probably damaging	Het
Phc2	T	C	4: 128,640,929 (GRCm39)	F672S	probably damaging	Het
Pigr	G	A	1: 130,778,617 (GRCm39)	G767D	probably benign	Het
Plxnb3	T	A	X: 72,815,357 (GRCm39)	Y1845*	probably null	Het
Prl7a2	T	A	13: 27,844,870 (GRCm39)	Y172F	probably damaging	Het
Prokr1	T	C	6: 87,565,695 (GRCm39)	E50G	probably damaging	Het
Prph	A	T	15: 98,954,014 (GRCm39)	D196V	probably damaging	Het
Rapgef5	C	A	12: 117,547,739 (GRCm39)	C234*	probably null	Het
Sin3a	T	A	9: 57,018,084 (GRCm39)	D834E	possibly damaging	Het
Skint1	T	A	4: 111,882,730 (GRCm39)	V258D	probably benign	Het
Slc22a16	A	G	10: 40,461,016 (GRCm39)	I273V	possibly damaging	Het
Snx13	T	C	12: 35,188,065 (GRCm39)	M781T	possibly damaging	Het
Spag17	A	G	3: 99,920,524 (GRCm39)	I420V	probably benign	Het
Synj1	T	C	16: 90,788,537 (GRCm39)		probably null	Het
Tatdn2	A	G	6: 113,681,103 (GRCm39)	K379E	probably benign	Het
Tcaf2	T	A	6: 42,604,981 (GRCm39)	N601I	probably benign	Het
Thrap3	T	C	4: 126,069,189 (GRCm39)	Y654C	possibly damaging	Het
Tmcc1	C	CAT	6: 116,019,831 (GRCm39)		probably null	Het
Tmem132d	T	C	5: 127,861,505 (GRCm39)	D872G	probably benign	Het
Troap	T	C	15: 98,980,344 (GRCm39)	L508P	probably benign	Het
Trpd52l3	T	C	19: 29,981,362 (GRCm39)	V39A	probably benign	Het
Ttn	T	C	2: 76,544,717 (GRCm39)	N32795S	probably damaging	Het
Ubap2	C	T	4: 41,199,872 (GRCm39)	A752T	probably benign	Het
Ubr5	T	C	15: 38,041,086 (GRCm39)	D266G	probably damaging	Het
Ugt2b36	T	C	5: 87,240,100 (GRCm39)	E95G	probably benign	Het
Vmn2r120	T	A	17: 57,831,553 (GRCm39)	H412L	possibly damaging	Het
Zgrf1	T	C	3: 127,406,999 (GRCm39)	C1589R	probably damaging	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
R0650:L3mbtl4	UTSW	17	69,081,286 (GRCm39)	missense	probably damaging	1.00
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
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'- AGGGGAAGGTTACTGACTGT -3'
(R):5'- TCTGGTGTACACTCTGAAACACT -3'

Sequencing Primer
(F):5'- CTGACTGTTTATAGGAAATGAGAGAC -3'
(R):5'- CAATTCAGATTAGCTTTGATGGGTC -3'

Posted On

2014-09-17