Mutagenetix > Incidental Mutation

Incidental Mutation 'R1634:Leo1'

172991

Institutional Source

Beutler Lab

Gene Symbol

Leo1

Ensembl Gene

ENSMUSG00000042487

Gene Name

Leo1, Paf1/RNA polymerase II complex component

Synonyms

LOC235497

MMRRC Submission

039671-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1634 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

75348806-75373714 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 75373542 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 656 (Y656H)

Ref Sequence

ENSEMBL: ENSMUSP00000046905 (fasta)

Gene Model

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

AlphaFold

Q5XJE5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000048937
AA Change: Y656H

PolyPhen 2 Score 0.885 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000046905
Gene: ENSMUSG00000042487
AA Change: Y656H

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: ENSMUST00000208453

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000213767

Meta Mutation Damage Score

0.0808

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.7%
20x: 90.4%

Validation Efficiency

97% (67/69)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam2	A	T	14: 66,295,180 (GRCm39)	F222I	probably damaging	Het
Adam34	A	T	8: 44,105,127 (GRCm39)	C173S	possibly damaging	Het
Ahi1	T	C	10: 20,841,592 (GRCm39)	V293A	probably damaging	Het
AI182371	A	T	2: 34,976,497 (GRCm39)	Y223N	probably damaging	Het
Asmt	C	A	X: 169,109,564 (GRCm39)	F181L	probably damaging	Het
Axin1	T	A	17: 26,406,965 (GRCm39)	H519Q	probably damaging	Het
Cdc5l	A	T	17: 45,715,632 (GRCm39)	V660E	probably damaging	Het
Cep152	C	T	2: 125,425,809 (GRCm39)	R852H	probably benign	Het
Cpne4	T	C	9: 104,866,778 (GRCm39)	V230A	possibly damaging	Het
Cttnbp2	A	T	6: 18,408,656 (GRCm39)	N988K	probably benign	Het
D430041D05Rik	A	G	2: 104,051,556 (GRCm39)	I767T	probably damaging	Het
Dgki	A	G	6: 36,892,425 (GRCm39)	M851T	probably benign	Het
Dnah8	T	C	17: 30,932,072 (GRCm39)		probably null	Het
Dscaml1	A	G	9: 45,584,047 (GRCm39)	E504G	probably damaging	Het
Dzank1	G	A	2: 144,323,589 (GRCm39)	A618V	probably benign	Het
Entrep3	A	C	3: 89,095,401 (GRCm39)	Y511S	probably damaging	Het
Fat2	T	A	11: 55,158,510 (GRCm39)	S3403C	probably damaging	Het
Fat2	C	T	11: 55,175,545 (GRCm39)	V1723I	probably benign	Het
Flt1	A	T	5: 147,613,240 (GRCm39)	F334I	probably damaging	Het
Galnt12	G	T	4: 47,108,585 (GRCm39)		probably null	Het
Gzmc	T	C	14: 56,469,737 (GRCm39)	I188V	possibly damaging	Het
Herc1	T	C	9: 66,380,820 (GRCm39)	S3566P	possibly damaging	Het
Hoxb4	C	A	11: 96,211,099 (GRCm39)		probably benign	Het
Idh3b	C	T	2: 130,123,665 (GRCm39)	V141I	probably benign	Het
Kif24	A	G	4: 41,393,529 (GRCm39)	S1249P	probably benign	Het
Map3k20	G	A	2: 72,240,521 (GRCm39)	W339*	probably null	Het
Map3k5	T	C	10: 20,012,657 (GRCm39)	V1259A	possibly damaging	Het
Masp2	A	G	4: 148,698,812 (GRCm39)	D631G	probably damaging	Het
Mink1	T	C	11: 70,499,706 (GRCm39)	S713P	probably benign	Het
Mpp7	A	T	18: 7,350,984 (GRCm39)	V571E	possibly damaging	Het
Nell1	A	G	7: 50,498,306 (GRCm39)	D574G	possibly damaging	Het
Obscn	T	C	11: 58,967,722 (GRCm39)	Y392C	probably damaging	Het
Odad2	A	G	18: 7,286,688 (GRCm39)	L181P	probably damaging	Het
Olfml2a	A	T	2: 38,850,231 (GRCm39)	Y649F	probably benign	Het
Or1f19	A	G	16: 3,411,073 (GRCm39)	D271G	probably benign	Het
Or4k45	T	C	2: 111,395,691 (GRCm39)	M33V	probably benign	Het
Prkcg	A	G	7: 3,371,986 (GRCm39)	D484G	probably damaging	Het
Rab27a	T	C	9: 72,982,851 (GRCm39)		probably null	Het
Rapgef6	TG	TGG	11: 54,437,223 (GRCm39)		probably null	Het
Rgl1	C	T	1: 152,400,523 (GRCm39)	R624H	probably damaging	Het
Ric8b	G	A	10: 84,806,612 (GRCm39)	G159D	probably damaging	Het
Sbno2	C	A	10: 79,896,468 (GRCm39)	A880S	possibly damaging	Het
Scn9a	A	G	2: 66,318,361 (GRCm39)	S1477P	probably damaging	Het
Sec22a	T	C	16: 35,139,243 (GRCm39)		probably benign	Het
Snx14	T	C	9: 88,267,792 (GRCm39)	I714M	probably benign	Het
Snx14	T	C	9: 88,289,543 (GRCm39)		probably benign	Het
Sphk2	T	A	7: 45,360,964 (GRCm39)	T347S	probably benign	Het
Spns1	C	T	7: 125,970,343 (GRCm39)		probably benign	Het
Susd2	A	G	10: 75,473,389 (GRCm39)	V675A	probably benign	Het
Sytl2	A	T	7: 90,044,390 (GRCm39)	D566V	probably damaging	Het
Tcf25	T	A	8: 124,123,830 (GRCm39)	I464N	possibly damaging	Het
Tex261	A	T	6: 83,752,004 (GRCm39)	I49N	possibly damaging	Het
Tjp1	A	G	7: 64,952,700 (GRCm39)	F1545L	possibly damaging	Het
Tmem176b	A	G	6: 48,811,500 (GRCm39)	S216P	probably damaging	Het
Topaz1	C	T	9: 122,609,740 (GRCm39)		probably benign	Het
Tra2a	C	T	6: 49,227,891 (GRCm39)		probably benign	Het
Ttn	A	G	2: 76,553,126 (GRCm39)	F22794S	possibly damaging	Het
Uox	G	A	3: 146,318,138 (GRCm39)	W93*	probably null	Het
Zan	A	T	5: 137,411,052 (GRCm39)		probably benign	Het
Zfp106	G	A	2: 120,364,158 (GRCm39)	R750*	probably null	Het
Zfp638	A	T	6: 83,956,894 (GRCm39)		probably null	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
R2118:Leo1	UTSW	9	75,353,094 (GRCm39)	missense	probably damaging	0.99
R2167:Leo1	UTSW	9	75,352,991 (GRCm39)	missense	probably benign	0.01
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'- TGCTGGGCTTGAACTCTGCAAAG -3'
(R):5'- AACCTGGACTCTCTAAAATGCCTGC -3'

Sequencing Primer
(F):5'- tcctcctgcctctgtcc -3'
(R):5'- ATGCCTGCAAAGTCAGCTTG -3'

Posted On

2014-04-24