Mutagenetix > Incidental Mutation

Incidental Mutation 'R7429:Rpap3'

576347

Institutional Source

Beutler Lab

Gene Symbol

Rpap3

Ensembl Gene

ENSMUSG00000022466

Gene Name

RNA polymerase II associated protein 3

Synonyms

D15Ertd682e, 2310042P20Rik

MMRRC Submission

045507-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7429 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

97572978-97603706 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 97586031 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 320 (L320Q)

Ref Sequence

ENSEMBL: ENSMUSP00000023104 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023104]

AlphaFold

Q9D706

Predicted Effect

possibly damaging
Transcript: ENSMUST00000023104
AA Change: L320Q

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000023104
Gene: ENSMUSG00000022466
AA Change: L320Q

Domain	Start	End	E-Value	Type
coiled coil region	9	45	N/A	INTRINSIC
low complexity region	63	78	N/A	INTRINSIC
low complexity region	114	125	N/A	INTRINSIC
TPR	134	167	1.12e-7	SMART
TPR	168	201	2.07e1	SMART
TPR	202	235	2.36e-6	SMART
low complexity region	252	273	N/A	INTRINSIC
TPR	284	317	6.58e-5	SMART
TPR	318	351	4.45e-2	SMART
TPR	352	385	3.87e-2	SMART
Pfam:RPAP3_C	540	631	3.8e-26	PFAM

Meta Mutation Damage Score

0.1712

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.2%

Validation Efficiency

100% (71/71)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an RNA polymerase II-associated protein. The encoded protein may function in transcriptional regulation and may also regulate apoptosis. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2009]

Allele List at MGI

All alleles(10) : Targeted, other(1) Gene trapped(9)

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933407L21Rik	T	C	1: 85,859,028 (GRCm39)	C60R	unknown	Het
A430033K04Rik	A	G	5: 138,634,445 (GRCm39)	D20G	possibly damaging	Het
Aadacl4fm2	T	A	4: 144,291,626 (GRCm39)	I27F	probably benign	Het
Abca9	CA	C	11: 110,018,252 (GRCm39)		probably null	Het
Ankle2	C	T	5: 110,382,384 (GRCm39)	T120I	possibly damaging	Het
Ap2b1	C	T	11: 83,258,824 (GRCm39)	T765I	probably benign	Het
Atp8b4	A	T	2: 126,245,291 (GRCm39)	V286E	possibly damaging	Het
Brms1l	T	C	12: 55,892,084 (GRCm39)	L126P	probably damaging	Het
Btbd7	T	C	12: 102,804,039 (GRCm39)	T334A	probably damaging	Het
Cdh18	T	C	15: 23,366,942 (GRCm39)	V216A	possibly damaging	Het
Chka	A	G	19: 3,942,787 (GRCm39)	Y415C	probably damaging	Het
Cnih1	C	T	14: 47,017,679 (GRCm39)	V52I	possibly damaging	Het
Cox4i1	T	A	8: 121,400,770 (GRCm39)	M145K	probably damaging	Het
Cubn	G	T	2: 13,327,804 (GRCm39)	R2674S	possibly damaging	Het
Cyfip1	A	G	7: 55,550,341 (GRCm39)	E692G	probably damaging	Het
Dido1	G	A	2: 180,331,319 (GRCm39)	T43M	possibly damaging	Het
Edc4	T	C	8: 106,618,216 (GRCm39)	S1245P	probably damaging	Het
Enpp1	G	T	10: 24,587,848 (GRCm39)	H14Q	probably benign	Het
Etaa1	C	T	11: 17,890,281 (GRCm39)	R860Q	probably damaging	Het
Fam181b	G	A	7: 92,729,403 (GRCm39)	V59M	probably benign	Het
Fam184b	G	A	5: 45,698,230 (GRCm39)	T655I	probably benign	Het
Fcgr3	A	G	1: 170,885,442 (GRCm39)	M61T	probably benign	Het
Fign	T	C	2: 63,809,404 (GRCm39)	D622G	probably damaging	Het
Frmd3	A	G	4: 74,063,342 (GRCm39)	D223G	probably damaging	Het
Galnt4	A	G	10: 98,945,610 (GRCm39)	H445R	probably damaging	Het
Gm44501	A	G	17: 40,887,517 (GRCm39)	T12A	probably null	Het
Hnrnpll	T	A	17: 80,357,276 (GRCm39)	I247F	probably damaging	Het
Hs3st4	T	C	7: 123,996,605 (GRCm39)	F424L	probably damaging	Het
Ifi206	A	T	1: 173,308,157 (GRCm39)	V613E		Het
Insig1	T	C	5: 28,280,077 (GRCm39)	F223S	probably damaging	Het
Iqgap1	C	T	7: 80,401,188 (GRCm39)	E500K	probably benign	Het
Itgav	G	A	2: 83,624,602 (GRCm39)	V731M	probably damaging	Het
Lrrfip2	T	G	9: 111,014,194 (GRCm39)		probably null	Het
Mark4	C	A	7: 19,160,092 (GRCm39)	G723C	probably damaging	Het
Marveld3	A	G	8: 110,675,100 (GRCm39)	S239P	possibly damaging	Het
Mast3	A	C	8: 71,232,947 (GRCm39)	C1122G	probably damaging	Het
Ms4a4d	A	G	19: 11,535,297 (GRCm39)	I198M	probably benign	Het
Mup14	C	T	4: 61,259,447 (GRCm39)	G35E	probably damaging	Het
Myo1a	T	A	10: 127,542,716 (GRCm39)	V118E	probably damaging	Het
Nfatc3	A	G	8: 106,835,035 (GRCm39)	T794A	probably benign	Het
Or1p1c	T	A	11: 74,160,579 (GRCm39)	D121E	probably damaging	Het
Or51g2	A	T	7: 102,622,969 (GRCm39)	S77T	probably damaging	Het
Or7g16	T	C	9: 18,726,650 (GRCm39)	*313W	probably null	Het
Pde6c	T	A	19: 38,129,887 (GRCm39)	Y266N	probably damaging	Het
Pde9a	T	C	17: 31,689,680 (GRCm39)	L435P	probably damaging	Het
Pgm1	T	A	4: 99,813,192 (GRCm39)	M1K	probably null	Het
Plcb4	T	C	2: 135,810,242 (GRCm39)	Y626H	probably damaging	Het
Rnf10	T	C	5: 115,386,739 (GRCm39)	N517D	probably damaging	Het
Rptor	T	C	11: 119,737,654 (GRCm39)	W576R	probably damaging	Het
Scarb2	T	C	5: 92,633,093 (GRCm39)	I80V	probably benign	Het
Serpinc1	A	G	1: 160,823,011 (GRCm39)	T251A	probably benign	Het
Sgk3	A	G	1: 9,942,483 (GRCm39)	D85G	probably benign	Het
Sipa1l3	T	C	7: 29,086,631 (GRCm39)	D653G	probably benign	Het
Slc2a1	A	G	4: 118,993,510 (GRCm39)	Y449C	probably damaging	Het
Snx13	T	C	12: 35,183,357 (GRCm39)	V760A	possibly damaging	Het
Snx7	T	C	3: 117,630,861 (GRCm39)	N249S	probably benign	Het
Soat2	C	A	15: 102,062,735 (GRCm39)	H124Q	probably damaging	Het
Sugt1	T	A	14: 79,857,241 (GRCm39)		probably null	Het
Syne2	C	T	12: 75,980,770 (GRCm39)	T1509M	probably damaging	Het
Syne2	T	A	12: 76,087,184 (GRCm39)	L214*	probably null	Het
Taok2	T	C	7: 126,469,849 (GRCm39)	Q993R	possibly damaging	Het
Tmem161b	A	G	13: 84,430,866 (GRCm39)		probably null	Het
Tspan17	G	A	13: 54,943,785 (GRCm39)	E213K	probably benign	Het
Ttc6	T	A	12: 57,704,888 (GRCm39)	I631N	probably benign	Het
Ttn	T	A	2: 76,641,283 (GRCm39)	L13574F	probably damaging	Het
U2af1l4	A	G	7: 30,262,815 (GRCm39)	E12G	probably benign	Het
Usp39	T	C	6: 72,319,900 (GRCm39)	Y106C	probably damaging	Het
Vmn1r185	A	C	7: 26,310,603 (GRCm39)	F301V	probably benign	Het
Zbp1	T	A	2: 173,055,611 (GRCm39)	K184N	unknown	Het
Zfp438	A	G	18: 5,214,139 (GRCm39)	V273A	probably benign	Het
Zswim5	A	G	4: 116,833,054 (GRCm39)	T596A	possibly damaging	Het

Other mutations in Rpap3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01835:Rpap3	APN	15	97,601,120 (GRCm39)	missense	possibly damaging	0.85
IGL02714:Rpap3	APN	15	97,594,458 (GRCm39)	missense	possibly damaging	0.93
IGL03409:Rpap3	APN	15	97,579,620 (GRCm39)	missense	possibly damaging	0.46
R0095:Rpap3	UTSW	15	97,578,417 (GRCm39)	splice site	probably benign
R0847:Rpap3	UTSW	15	97,601,082 (GRCm39)	critical splice donor site	probably null
R1496:Rpap3	UTSW	15	97,584,364 (GRCm39)	missense	possibly damaging	0.86
R1562:Rpap3	UTSW	15	97,592,098 (GRCm39)	missense	possibly damaging	0.86
R1603:Rpap3	UTSW	15	97,599,002 (GRCm39)	missense	possibly damaging	0.53
R1801:Rpap3	UTSW	15	97,592,090 (GRCm39)	missense	possibly damaging	0.73
R2163:Rpap3	UTSW	15	97,578,229 (GRCm39)	missense	possibly damaging	0.71
R4969:Rpap3	UTSW	15	97,584,407 (GRCm39)	missense	probably benign
R5226:Rpap3	UTSW	15	97,601,104 (GRCm39)	missense	possibly damaging	0.53
R6610:Rpap3	UTSW	15	97,586,049 (GRCm39)	missense	probably benign	0.24
R6613:Rpap3	UTSW	15	97,579,722 (GRCm39)	critical splice acceptor site	probably null
R7040:Rpap3	UTSW	15	97,576,993 (GRCm39)	missense	possibly damaging	0.51
R7430:Rpap3	UTSW	15	97,586,031 (GRCm39)	missense	possibly damaging	0.96
R7829:Rpap3	UTSW	15	97,579,589 (GRCm39)	missense	probably benign	0.02
R7853:Rpap3	UTSW	15	97,576,299 (GRCm39)	missense	possibly damaging	0.92
R8223:Rpap3	UTSW	15	97,589,185 (GRCm39)	missense	probably benign	0.02
R8366:Rpap3	UTSW	15	97,579,548 (GRCm39)	missense	probably benign	0.18
R8897:Rpap3	UTSW	15	97,585,998 (GRCm39)	missense	probably benign	0.02
R9043:Rpap3	UTSW	15	97,584,443 (GRCm39)	missense	possibly damaging	0.86
R9144:Rpap3	UTSW	15	97,589,184 (GRCm39)	missense	possibly damaging	0.68
R9453:Rpap3	UTSW	15	97,579,641 (GRCm39)	missense
R9530:Rpap3	UTSW	15	97,579,655 (GRCm39)	missense	probably benign
YA93:Rpap3	UTSW	15	97,591,114 (GRCm39)	missense	possibly damaging	0.86

Predicted Primers

PCR Primer
(F):5'- CTCTAACCTAGCACTGCTGC -3'
(R):5'- CTCTAGACTCCATTAGGGCGAG -3'

Sequencing Primer
(F):5'- CCTAGCACTGCTGCAAAAATAG -3'
(R):5'- CTCCATTAGGGCGAGAACATAG -3'

Posted On

2019-10-07