Mutagenetix > Incidental Mutation

Incidental Mutation 'R4935:Leo1'

380310

Institutional Source

Beutler Lab

Gene Symbol

Leo1

Ensembl Gene

ENSMUSG00000042487

Gene Name

Leo1, Paf1/RNA polymerase II complex component

Synonyms

LOC235497

MMRRC Submission

042535-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4935 (G1)

Quality Score

203

Status

Not validated

Chromosome

Chromosomal Location

75348806-75373714 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 75353159 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 234 (D234G)

Ref Sequence

ENSEMBL: ENSMUSP00000046905 (fasta)

Gene Model

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

AlphaFold

Q5XJE5

Predicted Effect

probably benign
Transcript: ENSMUST00000048937
AA Change: D234G

PolyPhen 2 Score 0.130 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000046905
Gene: ENSMUSG00000042487
AA Change: D234G

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

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 94.8%
20x: 86.9%

Validation Efficiency

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A730071L15Rik	A	G	11: 6,150,442 (GRCm39)	*138W	probably null	Het
Abcb1a	T	A	5: 8,787,773 (GRCm39)		probably null	Het
Acp6	T	C	3: 97,079,060 (GRCm39)		probably null	Het
Adcyap1	A	T	17: 93,511,541 (GRCm39)	I172L	probably benign	Het
Adgrf1	A	C	17: 43,606,130 (GRCm39)	I85L	probably benign	Het
Afdn	A	T	17: 14,111,228 (GRCm39)	T1604S	probably benign	Het
Angpt2	T	C	8: 18,742,131 (GRCm39)	Y475C	probably damaging	Het
Ank2	A	G	3: 126,749,713 (GRCm39)	S439P	probably damaging	Het
Ank3	T	A	10: 69,812,033 (GRCm39)	N366K	probably damaging	Het
Ankrd11	A	G	8: 123,626,922 (GRCm39)	S87P	probably benign	Het
Ano7	T	A	1: 93,323,036 (GRCm39)	S459T	possibly damaging	Het
Asxl3	G	A	18: 22,656,369 (GRCm39)	V1460M	probably benign	Het
Atg16l1	A	C	1: 87,694,764 (GRCm39)	N147T	possibly damaging	Het
Atp10a	T	C	7: 58,463,512 (GRCm39)	V1015A	probably damaging	Het
Atxn7	T	A	14: 14,100,401 (GRCm38)	S696T	probably benign	Het
Babam1	C	T	8: 71,852,446 (GRCm39)	T184I	probably benign	Het
Blk	A	G	14: 63,618,711 (GRCm39)	S175P	possibly damaging	Het
Col5a1	T	A	2: 27,914,754 (GRCm39)	F123L	probably damaging	Het
Csmd3	T	C	15: 48,024,480 (GRCm39)	Y496C	probably damaging	Het
Dnah3	A	T	7: 119,615,700 (GRCm39)	Y1676*	probably null	Het
Fdxacb1	T	A	9: 50,683,243 (GRCm39)	M402K	probably benign	Het
Frmd5	A	G	2: 121,393,405 (GRCm39)	V141A	possibly damaging	Het
Gapvd1	G	A	2: 34,594,504 (GRCm39)	R685*	probably null	Het
Grik2	A	G	10: 49,116,826 (GRCm39)	L645P	probably damaging	Het
H2aj	T	A	6: 136,785,681 (GRCm39)	V115E	possibly damaging	Het
Hrh3	T	C	2: 179,743,061 (GRCm39)	Y189C	probably damaging	Het
Kcnc2	A	G	10: 112,108,133 (GRCm39)	T175A	probably benign	Het
Kcnv2	A	G	19: 27,300,332 (GRCm39)	Y61C	probably damaging	Het
Kif24	T	C	4: 41,394,939 (GRCm39)	R645G	probably damaging	Het
Knl1	A	G	2: 118,899,438 (GRCm39)	I380V	possibly damaging	Het
Lamb2	A	G	9: 108,364,700 (GRCm39)	I1151M	possibly damaging	Het
Lrp1b	T	G	2: 41,388,405 (GRCm39)	N407H	probably benign	Het
Matn2	T	C	15: 34,428,831 (GRCm39)	S732P	probably damaging	Het
Mrps30	A	T	13: 118,523,431 (GRCm39)	F114I	possibly damaging	Het
Or1l8	T	C	2: 36,817,713 (GRCm39)	N138D	probably benign	Het
Or4f17-ps1	G	A	2: 111,357,793 (GRCm39)	V45I	probably damaging	Het
Or5b123	T	C	19: 13,597,066 (GRCm39)	I180T	probably benign	Het
Oxr1	T	C	15: 41,676,980 (GRCm39)	V179A	probably benign	Het
Plaur	A	T	7: 24,166,141 (GRCm39)	S71C	possibly damaging	Het
Plbd2	T	C	5: 120,624,786 (GRCm39)	N461D	possibly damaging	Het
Plcb2	T	A	2: 118,549,396 (GRCm39)	Y322F	probably damaging	Het
Prkab2	T	C	3: 97,569,671 (GRCm39)	V79A	probably damaging	Het
Ptpn3	A	T	4: 57,197,568 (GRCm39)	C774S	probably damaging	Het
Ring1	A	C	17: 34,242,016 (GRCm39)	L131R	probably benign	Het
Rxfp2	G	A	5: 149,975,097 (GRCm39)		probably null	Het
Selenbp1	A	T	3: 94,845,269 (GRCm39)	I122F	probably benign	Het
Septin7	A	G	9: 25,217,468 (GRCm39)	H394R	probably benign	Het
Slc1a7	G	A	4: 107,864,758 (GRCm39)	V266I	probably damaging	Het
Slc2a10	A	G	2: 165,359,578 (GRCm39)	T481A	probably benign	Het
Spmap2l	T	C	5: 77,185,200 (GRCm39)		probably null	Het
Tapbp	A	G	17: 34,144,596 (GRCm39)	M231V	probably benign	Het
Tbxas1	A	T	6: 38,999,981 (GRCm39)	N256I	probably benign	Het
Uimc1	A	G	13: 55,240,998 (GRCm39)	I30T	probably damaging	Het
Usp48	C	A	4: 137,377,669 (GRCm39)	N231K	probably benign	Het
Zfhx3	T	G	8: 109,674,482 (GRCm39)	V1844G	possibly damaging	Het
Znrf3	A	T	11: 5,233,422 (GRCm39)	C212S	probably 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
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
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'- CAGAACTCTGACGACGACGAG -3'
(R):5'- CTGCACACAAACAAGAGTAGAG -3'

Sequencing Primer
(F):5'- TCTGACGACGACGAGGAGAAAATG -3'
(R):5'- AACTGGCTGCAACTCCTG -3'

Posted On

2016-04-15