Mutagenetix > Incidental Mutation

Incidental Mutation 'R2167:Leo1'

235554

Institutional Source

Beutler Lab

Gene Symbol

Leo1

Ensembl Gene

ENSMUSG00000042487

Gene Name

Leo1, Paf1/RNA polymerase II complex component

Synonyms

LOC235497

MMRRC Submission

040170-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2167 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

75348806-75373714 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 75352991 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 178 (N178S)

Ref Sequence

ENSEMBL: ENSMUSP00000046905 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048937]

AlphaFold

Q5XJE5

Predicted Effect

probably benign
Transcript: ENSMUST00000048937
AA Change: N178S

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000046905
Gene: ENSMUSG00000042487
AA Change: N178S

Domain	Start	End	E-Value	Type
low complexity region	10	30	N/A	INTRINSIC
low complexity region	33	43	N/A	INTRINSIC
low complexity region	64	78	N/A	INTRINSIC
internal_repeat_1	82	160	7.97e-7	PROSPERO
internal_repeat_1	177	253	7.97e-7	PROSPERO
low complexity region	255	269	N/A	INTRINSIC
low complexity region	317	330	N/A	INTRINSIC
low complexity region	345	356	N/A	INTRINSIC
Pfam:Leo1	375	537	5.8e-58	PFAM
low complexity region	578	584	N/A	INTRINSIC
low complexity region	608	618	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000213248

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000213767

Meta Mutation Damage Score

0.0573

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

Validation Efficiency

98% (57/58)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] LEO1, parafibromin (CDC73; MIM 607393), CTR9 (MIM 609366), and PAF1 (MIM 610506) form the PAF protein complex that associates with the RNA polymerase II subunit POLR2A (MIM 180660) and with a histone methyltransferase complex (Rozenblatt-Rosen et al., 2005 [PubMed 15632063]).[supplied by OMIM, Mar 2008]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	C	T	11: 9,238,532 (GRCm39)	T710M	probably benign	Het
Acan	A	G	7: 78,749,705 (GRCm39)	E1492G	probably benign	Het
Acsl1	A	G	8: 46,986,627 (GRCm39)	D638G	possibly damaging	Het
Acsl6	C	A	11: 54,217,983 (GRCm39)	T207K	probably benign	Het
Ahnak	A	T	19: 8,988,858 (GRCm39)	K3381*	probably null	Het
Art1	T	C	7: 101,756,031 (GRCm39)	V74A	probably damaging	Het
Bhmt2	A	T	13: 93,799,012 (GRCm39)	W270R	probably benign	Het
Calm2	T	C	17: 87,742,573 (GRCm39)	T118A	probably benign	Het
Ccdc88b	G	T	19: 6,831,452 (GRCm39)	Q497K	possibly damaging	Het
Ccne2	A	T	4: 11,197,249 (GRCm39)	M183L	probably benign	Het
Cdc42bpg	A	G	19: 6,367,707 (GRCm39)	I1026V	probably damaging	Het
Celsr2	T	C	3: 108,320,509 (GRCm39)	T768A	probably damaging	Het
Cog5	T	C	12: 31,887,288 (GRCm39)	F470L	probably damaging	Het
Cpne5	T	C	17: 29,381,306 (GRCm39)	D374G	probably damaging	Het
Disp2	A	C	2: 118,622,166 (GRCm39)	E966A	probably damaging	Het
Dmrtc2	C	T	7: 24,573,344 (GRCm39)		probably benign	Het
Eif2b3	T	A	4: 116,885,737 (GRCm39)	I93N	probably damaging	Het
Elfn2	C	A	15: 78,556,646 (GRCm39)	V634L	probably benign	Het
Fasl	T	G	1: 161,614,707 (GRCm39)	S119R	probably benign	Het
Foxp2	C	G	6: 15,437,901 (GRCm39)	P701A	probably damaging	Het
Helz	T	A	11: 107,563,790 (GRCm39)		probably benign	Het
Kctd6	T	C	14: 8,222,683 (GRCm38)	V175A	probably benign	Het
Lhx6	C	A	2: 35,993,371 (GRCm39)	R80L	probably damaging	Het
Man1a2	A	G	3: 100,499,216 (GRCm39)	L406P	probably damaging	Het
Mapkap1	T	C	2: 34,487,494 (GRCm39)	F231L	probably damaging	Het
Mknk2	A	G	10: 80,504,535 (GRCm39)	Y256H	probably damaging	Het
Msh6	A	G	17: 88,296,911 (GRCm39)	T1203A	probably damaging	Het
Nbeal2	T	C	9: 110,467,376 (GRCm39)	Y604C	probably damaging	Het
Ncam1	G	T	9: 49,479,781 (GRCm39)	Q66K	probably benign	Het
Nsd2	T	A	5: 34,040,263 (GRCm39)	H933Q	probably damaging	Het
Or10h5	T	A	17: 33,434,542 (GRCm39)	I262F	probably damaging	Het
Or13p3	T	C	4: 118,567,252 (GRCm39)	V216A	probably benign	Het
Or2d3c	A	G	7: 106,525,797 (GRCm39)	Y290H	probably damaging	Het
Or5h23	T	A	16: 58,905,949 (GRCm39)	K299I	probably benign	Het
Pappa	A	C	4: 65,074,682 (GRCm39)	D412A	probably damaging	Het
Ptch1	T	G	13: 63,672,773 (GRCm39)	E944A	probably benign	Het
Rassf6	C	T	5: 90,751,797 (GRCm39)	E308K	probably damaging	Het
Rb1	T	C	14: 73,449,091 (GRCm39)	T680A	probably damaging	Het
Rfpl4	T	A	7: 5,113,852 (GRCm39)	I104F	probably damaging	Het
Rin2	C	T	2: 145,702,366 (GRCm39)	T354I	probably benign	Het
Rnase6	A	C	14: 51,367,974 (GRCm39)	D122A	probably benign	Het
Rsf1	GGCG	GGCGACGGCAGCG	7: 97,229,113 (GRCm39)		probably benign	Het
Sec31b	G	A	19: 44,531,792 (GRCm39)	T39I	possibly damaging	Het
Slc12a1	A	G	2: 125,015,601 (GRCm39)	I385V	probably damaging	Het
Slc6a17	A	T	3: 107,398,817 (GRCm39)	Y261*	probably null	Het
Supt6	G	A	11: 78,098,993 (GRCm39)	P1626L	possibly damaging	Het
Tbx15	A	G	3: 99,233,771 (GRCm39)		probably benign	Het
Telo2	A	G	17: 25,329,792 (GRCm39)	V240A	probably benign	Het
Trhr	C	T	15: 44,092,638 (GRCm39)	L292F	probably damaging	Het
Trps1	G	A	15: 50,695,126 (GRCm39)	L340F	possibly damaging	Het
Ube2e1	T	C	14: 18,284,429 (GRCm38)		probably benign	Het
Yeats2	T	C	16: 20,032,151 (GRCm39)		probably benign	Het
Zbtb39	G	A	10: 127,578,844 (GRCm39)	E473K	probably benign	Het
Zfp235	T	A	7: 23,840,387 (GRCm39)	S269T	possibly damaging	Het
Zfp580	C	A	7: 5,056,063 (GRCm39)	P141Q	possibly damaging	Het

Other mutations in Leo1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00433:Leo1	APN	9	75,357,762 (GRCm39)	splice site	probably benign
IGL01412:Leo1	APN	9	75,373,524 (GRCm39)	missense	probably benign	0.08
IGL01789:Leo1	APN	9	75,361,896 (GRCm39)	splice site	probably benign
IGL02116:Leo1	APN	9	75,356,697 (GRCm39)	missense	probably damaging	1.00
IGL02303:Leo1	APN	9	75,353,281 (GRCm39)	splice site	probably benign
FR4449:Leo1	UTSW	9	75,357,855 (GRCm39)	critical splice donor site	probably benign
FR4976:Leo1	UTSW	9	75,357,854 (GRCm39)	critical splice donor site	probably benign
R0729:Leo1	UTSW	9	75,364,420 (GRCm39)	missense	possibly damaging	0.78
R0811:Leo1	UTSW	9	75,352,831 (GRCm39)	missense	probably benign	0.02
R0812:Leo1	UTSW	9	75,352,831 (GRCm39)	missense	probably benign	0.02
R0960:Leo1	UTSW	9	75,352,522 (GRCm39)	missense	probably benign	0.01
R1272:Leo1	UTSW	9	75,357,795 (GRCm39)	missense	possibly damaging	0.95
R1349:Leo1	UTSW	9	75,356,751 (GRCm39)	missense	possibly damaging	0.80
R1372:Leo1	UTSW	9	75,356,751 (GRCm39)	missense	possibly damaging	0.80
R1634:Leo1	UTSW	9	75,373,542 (GRCm39)	missense	possibly damaging	0.88
R2118:Leo1	UTSW	9	75,353,094 (GRCm39)	missense	probably damaging	0.99
R2484:Leo1	UTSW	9	75,352,755 (GRCm39)	missense	possibly damaging	0.66
R3963:Leo1	UTSW	9	75,357,762 (GRCm39)	splice site	probably benign
R4628:Leo1	UTSW	9	75,352,979 (GRCm39)	missense	probably damaging	1.00
R4935:Leo1	UTSW	9	75,353,159 (GRCm39)	missense	probably benign	0.13
R5590:Leo1	UTSW	9	75,364,423 (GRCm39)	missense	possibly damaging	0.90
R5875:Leo1	UTSW	9	75,357,842 (GRCm39)	missense	probably damaging	0.98
R6394:Leo1	UTSW	9	75,352,752 (GRCm39)	missense	probably benign	0.00
R7203:Leo1	UTSW	9	75,353,278 (GRCm39)	splice site	probably null
R7472:Leo1	UTSW	9	75,355,623 (GRCm39)	missense	probably damaging	1.00
R7654:Leo1	UTSW	9	75,362,961 (GRCm39)	missense	possibly damaging	0.66
R7671:Leo1	UTSW	9	75,352,844 (GRCm39)	missense	probably benign	0.00
R7998:Leo1	UTSW	9	75,352,558 (GRCm39)	missense	probably benign	0.04
R8679:Leo1	UTSW	9	75,373,544 (GRCm39)	nonsense	probably null
R8680:Leo1	UTSW	9	75,353,277 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- GGATAATGAGCCCTCTGACGAG -3'
(R):5'- GGTCCTCATCGTCCGAATTCTG -3'

Sequencing Primer
(F):5'- ACCAGCACAGTGGCTCTGAAG -3'
(R):5'- GCTTCTCCTCGTCATTATCAGAAG -3'

Posted On

2014-10-01