Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02747:Rpap1'

306071

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rpap1

Ensembl Gene

ENSMUSG00000034032

Gene Name

RNA polymerase II associated protein 1

Synonyms

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.966) question?

Stock #

IGL02747

Quality Score

Status

Chromosome

Chromosomal Location

119763304-119787537 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 119774128 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 433 (I433T)

Ref Sequence

ENSEMBL: ENSMUSP00000138873 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048493] [ENSMUST00000099529] [ENSMUST00000110793] [ENSMUST00000136419] [ENSMUST00000184294]

AlphaFold

Q80TE0

Predicted Effect

probably damaging
Transcript: ENSMUST00000048493
AA Change: I433T

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000037275
Gene: ENSMUSG00000034032
AA Change: I433T

Domain	Start	End	E-Value	Type
low complexity region	62	81	N/A	INTRINSIC
Pfam:RPAP1_N	225	270	2.4e-21	PFAM
Pfam:RPAP1_C	372	438	1.9e-27	PFAM
low complexity region	451	473	N/A	INTRINSIC
low complexity region	476	488	N/A	INTRINSIC
low complexity region	515	529	N/A	INTRINSIC
low complexity region	739	752	N/A	INTRINSIC
low complexity region	843	860	N/A	INTRINSIC
low complexity region	989	1007	N/A	INTRINSIC
low complexity region	1042	1052	N/A	INTRINSIC
low complexity region	1097	1108	N/A	INTRINSIC
low complexity region	1193	1204	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000099529
AA Change: I433T

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000097127
Gene: ENSMUSG00000034032
AA Change: I433T

Domain	Start	End	E-Value	Type
low complexity region	62	81	N/A	INTRINSIC
Pfam:RPAP1_N	224	272	1.7e-21	PFAM
Pfam:RPAP1_C	370	440	2.9e-27	PFAM
low complexity region	451	473	N/A	INTRINSIC
low complexity region	476	488	N/A	INTRINSIC
low complexity region	515	529	N/A	INTRINSIC
low complexity region	739	752	N/A	INTRINSIC
low complexity region	843	860	N/A	INTRINSIC
low complexity region	989	1007	N/A	INTRINSIC
low complexity region	1042	1052	N/A	INTRINSIC
low complexity region	1097	1108	N/A	INTRINSIC
low complexity region	1193	1204	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000110793
AA Change: I433T

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000106420
Gene: ENSMUSG00000034032
AA Change: I433T

Domain	Start	End	E-Value	Type
low complexity region	62	81	N/A	INTRINSIC
Pfam:RPAP1_N	224	272	1.7e-21	PFAM
Pfam:RPAP1_C	370	440	2.9e-27	PFAM
low complexity region	451	473	N/A	INTRINSIC
low complexity region	476	488	N/A	INTRINSIC
low complexity region	515	529	N/A	INTRINSIC
low complexity region	739	752	N/A	INTRINSIC
low complexity region	843	860	N/A	INTRINSIC
low complexity region	989	1007	N/A	INTRINSIC
low complexity region	1042	1052	N/A	INTRINSIC
low complexity region	1097	1108	N/A	INTRINSIC
low complexity region	1193	1204	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133146

Predicted Effect

probably benign
Transcript: ENSMUST00000136419

SMART Domains

Protein: ENSMUSP00000138619
Gene: ENSMUSG00000034032

Domain	Start	End	E-Value	Type
low complexity region	62	81	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139311

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141800

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156506

Predicted Effect

probably damaging
Transcript: ENSMUST00000184294
AA Change: I433T

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000138873
Gene: ENSMUSG00000034032
AA Change: I433T

Domain	Start	End	E-Value	Type
low complexity region	62	81	N/A	INTRINSIC
Pfam:RPAP1_N	224	272	4.8e-22	PFAM
Pfam:RPAP1_C	370	440	1.2e-27	PFAM
low complexity region	451	473	N/A	INTRINSIC
low complexity region	476	488	N/A	INTRINSIC
low complexity region	515	529	N/A	INTRINSIC
low complexity region	739	752	N/A	INTRINSIC
low complexity region	843	860	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This protein forms part of the RNA polymerase II (RNAPII) enzyme complex and may recruit RNAPII to chromatin through its interaction with acetylated histones. [provided by RefSeq, Jul 2012]

Allele List at MGI

Other mutations in this stock

Total: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,373,282	L3373*	probably null	Het
Ap1s3	T	C	1: 79,623,692	Y94C	probably damaging	Het
BC048403	A	C	10: 121,745,550	Q152P	possibly damaging	Het
Dbx2	T	C	15: 95,632,439	T216A	probably benign	Het
Dsg4	A	G	18: 20,446,938	R67G	probably damaging	Het
Eng	G	A	2: 32,672,958		probably null	Het
Gm28042	T	A	2: 120,031,394	I206N	probably damaging	Het
Gsdmc4	C	T	15: 63,893,871	M276I	probably benign	Het
Itih2	A	G	2: 10,097,945	S793P	probably benign	Het
Kcnj13	T	C	1: 87,389,365	N9D	probably benign	Het
Krt78	T	A	15: 101,950,384		probably benign	Het
Megf10	A	G	18: 57,290,493	K985E	probably benign	Het
Naa25	A	G	5: 121,414,605		probably benign	Het
Olfr918	T	C	9: 38,673,084	Y133C	probably benign	Het
Plekhm2	T	C	4: 141,634,272	T307A	possibly damaging	Het
Ppp1cc	A	G	5: 122,174,073	K301E	probably benign	Het
Ralgds	T	C	2: 28,548,110		probably benign	Het
Rccd1	A	T	7: 80,320,490	D126E	probably benign	Het
Reps1	T	C	10: 18,123,600	S712P	probably damaging	Het
Rnf103	T	A	6: 71,509,177	I264N	probably damaging	Het
Ryr2	T	G	13: 11,655,677	N3478H	probably damaging	Het
Sox30	A	G	11: 45,980,945	D209G	probably benign	Het
Sox6	A	G	7: 115,489,746	F628S	probably damaging	Het
Tas1r3	C	T	4: 155,860,460	G768D	possibly damaging	Het
Tesk2	T	C	4: 116,802,879	V398A	probably benign	Het
Tmem135	A	T	7: 89,144,670	I388N	probably damaging	Het
Tpgs2	A	G	18: 25,139,145		probably benign	Het
Vmn2r120	G	A	17: 57,524,719	H357Y	probably benign	Het

Other mutations in Rpap1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01807:Rpap1	APN	2	119782708	missense	possibly damaging	0.50
IGL02009:Rpap1	APN	2	119780113	missense	possibly damaging	0.51
IGL02068:Rpap1	APN	2	119782654	missense	probably benign	0.02
IGL02100:Rpap1	APN	2	119769326	missense	probably benign	0.06
IGL02528:Rpap1	APN	2	119774950	splice site	probably null
IGL02530:Rpap1	APN	2	119783239	splice site	probably benign
IGL03371:Rpap1	APN	2	119775057	splice site	probably benign
R0138:Rpap1	UTSW	2	119764899	splice site	probably null
R0325:Rpap1	UTSW	2	119771840	missense	probably benign
R0616:Rpap1	UTSW	2	119778120	missense	probably damaging	1.00
R1081:Rpap1	UTSW	2	119771269	missense	probably damaging	1.00
R1657:Rpap1	UTSW	2	119783778	missense	possibly damaging	0.53
R1837:Rpap1	UTSW	2	119769885	critical splice donor site	probably null
R2307:Rpap1	UTSW	2	119783766	missense	probably benign	0.00
R2308:Rpap1	UTSW	2	119783766	missense	probably benign	0.00
R2375:Rpap1	UTSW	2	119770407	missense	possibly damaging	0.50
R2507:Rpap1	UTSW	2	119780054	critical splice donor site	probably null
R2508:Rpap1	UTSW	2	119780054	critical splice donor site	probably null
R4155:Rpap1	UTSW	2	119774179	missense	probably damaging	1.00
R4156:Rpap1	UTSW	2	119774179	missense	probably damaging	1.00
R4157:Rpap1	UTSW	2	119774179	missense	probably damaging	1.00
R4657:Rpap1	UTSW	2	119775006	missense	probably benign	0.03
R4837:Rpap1	UTSW	2	119778251	missense	probably benign	0.32
R4880:Rpap1	UTSW	2	119783865	missense	probably damaging	0.97
R5010:Rpap1	UTSW	2	119770041	missense	probably benign
R5111:Rpap1	UTSW	2	119771247	missense	probably damaging	1.00
R5650:Rpap1	UTSW	2	119773850	missense	probably benign
R6144:Rpap1	UTSW	2	119772647	nonsense	probably null
R6353:Rpap1	UTSW	2	119776896	splice site	probably null
R6646:Rpap1	UTSW	2	119780131	missense	probably benign	0.03
R6731:Rpap1	UTSW	2	119778296	missense	probably benign
R6872:Rpap1	UTSW	2	119775369	missense	probably damaging	1.00
R6878:Rpap1	UTSW	2	119778176	missense	probably damaging	1.00
R7060:Rpap1	UTSW	2	119773562	missense	probably damaging	1.00
R7558:Rpap1	UTSW	2	119771254	missense	probably benign
R7640:Rpap1	UTSW	2	119764410	missense	possibly damaging	0.63
R7862:Rpap1	UTSW	2	119775412	critical splice acceptor site	probably null
R8055:Rpap1	UTSW	2	119764803	missense	probably benign	0.13
R8934:Rpap1	UTSW	2	119769249	critical splice donor site	probably null
R9032:Rpap1	UTSW	2	119778295	missense	probably benign	0.00
R9220:Rpap1	UTSW	2	119774188	missense	probably damaging	0.99
R9422:Rpap1	UTSW	2	119783038	intron	probably benign
R9651:Rpap1	UTSW	2	119768003	missense	probably damaging	1.00
R9776:Rpap1	UTSW	2	119776797	missense	probably benign	0.00
X0028:Rpap1	UTSW	2	119771062	missense	probably benign
Z1177:Rpap1	UTSW	2	119783752	missense	probably damaging	1.00

Posted On

2015-04-16