Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02175:Prpf3'

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283055

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Prpf3

Ensembl Gene

ENSMUSG00000015748

Gene Name

pre-mRNA processing factor 3

Synonyms

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02175

Quality Score

Status

Chromosome

Chromosomal Location

95830124-95855885 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 95834107 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 579 (V579A)

Ref Sequence

ENSEMBL: ENSMUSP00000124950 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000015892] [ENSMUST00000159901] [ENSMUST00000161476]

Predicted Effect

probably damaging
Transcript: ENSMUST00000015892
AA Change: V579A

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000015892
Gene: ENSMUSG00000015748
AA Change: V579A

Domain	Start	End	E-Value	Type
PWI	3	76	5.99e-29	SMART
low complexity region	112	135	N/A	INTRINSIC
Pfam:PRP3	308	521	1.3e-82	PFAM
low complexity region	526	534	N/A	INTRINSIC
Pfam:DUF1115	544	673	1.1e-51	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000159901

SMART Domains

Protein: ENSMUSP00000124444
Gene: ENSMUSG00000015748

Domain	Start	End	E-Value	Type
Pfam:DUF1115	1	105	3.3e-16	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160155

Predicted Effect

probably damaging
Transcript: ENSMUST00000161476
AA Change: V579A

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000124950
Gene: ENSMUSG00000015748
AA Change: V579A

Domain	Start	End	E-Value	Type
PWI	3	76	5.99e-29	SMART
low complexity region	112	135	N/A	INTRINSIC
Pfam:PRP3	307	522	5.4e-74	PFAM
low complexity region	526	534	N/A	INTRINSIC
Pfam:DUF1115	543	674	3.2e-45	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161482

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000163059

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The removal of introns from nuclear pre-mRNAs occurs on complexes called spliceosomes, which are made up of 4 small nuclear ribonucleoprotein (snRNP) particles and an undefined number of transiently associated splicing factors. This gene product is one of several proteins that associate with U4 and U6 snRNPs. Mutations in this gene are associated with retinitis pigmentosa-18. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null mutation display embryonic lethality. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc12	A	T	8: 86,535,013		probably null	Het
Adgrf5	A	G	17: 43,451,010	I1199V	probably damaging	Het
Atm	T	A	9: 53,480,665	H1808L	probably damaging	Het
Cadps	C	T	14: 12,467,092	V942M	probably damaging	Het
Capns1	T	C	7: 30,190,532	D116G	probably benign	Het
Ccdc110	T	G	8: 45,940,623	M124R	probably benign	Het
Cdh23	T	C	10: 60,331,308	N1855S	possibly damaging	Het
Dstyk	T	A	1: 132,449,391	L245*	probably null	Het
Dync2h1	A	G	9: 7,111,548	Y289H	possibly damaging	Het
Efcab6	G	A	15: 83,896,100	A1044V	probably damaging	Het
Egr1	T	C	18: 34,863,055	S297P	probably benign	Het
Ercc6l2	T	C	13: 63,869,190		probably benign	Het
Frem2	C	T	3: 53,655,599	A496T	possibly damaging	Het
Hook2	T	A	8: 84,991,402	W53R	probably damaging	Het
Med19	T	A	2: 84,678,663		probably null	Het
Mgrn1	A	G	16: 4,920,368	N262S	probably benign	Het
Nbas	T	G	12: 13,566,259		probably null	Het
Ndc80	A	C	17: 71,511,419	M314R	probably benign	Het
Nelfcd	A	T	2: 174,420,382	T89S	probably benign	Het
Nlrp4a	A	T	7: 26,475,097	E969D	probably damaging	Het
Ntrk3	A	G	7: 78,247,228	V687A	probably damaging	Het
Oc90	A	C	15: 65,883,825	S224R	possibly damaging	Het
Olfr1241	T	C	2: 89,482,282	I284M	possibly damaging	Het
Plxnb1	C	T	9: 109,100,846	H257Y	possibly damaging	Het
Rarres1	T	C	3: 67,495,756	N104S	probably benign	Het
Serpina1d	T	C	12: 103,765,696		probably null	Het
Sik2	G	A	9: 50,895,609	Q834*	probably null	Het
Slc39a10	G	A	1: 46,818,128	A696V	probably damaging	Het
Snx13	T	A	12: 35,132,062	N703K	possibly damaging	Het
Spaca9	T	C	2: 28,695,924	I43V	probably benign	Het
Tor1aip2	T	C	1: 156,065,006	S353P	probably damaging	Het
Trmt1l	T	C	1: 151,448,484	S361P	probably benign	Het
Trpm2	T	C	10: 77,937,907	H558R	probably benign	Het
Vmn1r75	T	C	7: 11,880,847	C127R	probably damaging	Het
Zfp879	A	T	11: 50,837,916	Y84N	probably benign	Het

Other mutations in Prpf3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02825:Prpf3	APN	3	95853480	missense	probably damaging	1.00
R0940:Prpf3	UTSW	3	95844223	missense	probably damaging	1.00
R1542:Prpf3	UTSW	3	95836470	missense	probably benign	0.08
R1545:Prpf3	UTSW	3	95847803	missense	probably damaging	0.99
R2063:Prpf3	UTSW	3	95844239	missense	probably benign
R2084:Prpf3	UTSW	3	95848989	missense	probably benign	0.44
R2160:Prpf3	UTSW	3	95845230	missense	probably benign	0.19
R3110:Prpf3	UTSW	3	95849800	intron	probably benign
R3112:Prpf3	UTSW	3	95849800	intron	probably benign
R4636:Prpf3	UTSW	3	95834170	missense	probably damaging	0.99
R4671:Prpf3	UTSW	3	95851664	missense	possibly damaging	0.76
R4689:Prpf3	UTSW	3	95836489	nonsense	probably null
R4702:Prpf3	UTSW	3	95834092	missense	probably damaging	0.97
R5080:Prpf3	UTSW	3	95833797	missense	probably benign	0.45
R5177:Prpf3	UTSW	3	95849724	intron	probably benign
R5290:Prpf3	UTSW	3	95853545	missense	probably benign	0.39
R5397:Prpf3	UTSW	3	95853579	missense	probably benign	0.09
R6329:Prpf3	UTSW	3	95832578	missense	probably damaging	1.00
R7133:Prpf3	UTSW	3	95833740	splice site	probably null
R8433:Prpf3	UTSW	3	95851651	missense	probably damaging	1.00
X0063:Prpf3	UTSW	3	95840715	nonsense	probably null

Posted On

2015-04-16