Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02452:Prpf6'

293705

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Prpf6

Ensembl Gene

ENSMUSG00000002455

Gene Name

pre-mRNA splicing factor 6

Synonyms

ANT-1, U5-102K, 2610031L17Rik, 1190003A07Rik

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02452

Quality Score

Status

Chromosome

Chromosomal Location

181591868-181655660 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 181649085 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 656 (N656K)

Ref Sequence

ENSEMBL: ENSMUSP00000121340 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002529] [ENSMUST00000136481]

Predicted Effect

probably benign
Transcript: ENSMUST00000002529
AA Change: N656K

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000002529
Gene: ENSMUSG00000002455
AA Change: N656K

Domain	Start	End	E-Value	Type
Pfam:PRP1_N	13	169	2.5e-52	PFAM
low complexity region	220	236	N/A	INTRINSIC
HAT	289	321	1.83e-1	SMART
HAT	323	355	2.83e1	SMART
HAT	384	416	1.08e-3	SMART
HAT	417	446	1.61e1	SMART
HAT	447	476	6.92e-2	SMART
HAT	554	586	2.2e-4	SMART
HAT	588	620	1.69e2	SMART
HAT	622	654	1.38e-1	SMART
HAT	656	687	3.41e1	SMART
HAT	689	721	3.99e1	SMART
HAT	723	755	3.38e-5	SMART
HAT	757	789	2.48e-3	SMART
HAT	791	823	5.64e1	SMART
Blast:TPR	841	874	2e-14	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000136481
AA Change: N656K

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000121340
Gene: ENSMUSG00000002455
AA Change: N656K

Domain	Start	End	E-Value	Type
Pfam:PRP1_N	13	169	1.3e-62	PFAM
low complexity region	220	236	N/A	INTRINSIC
HAT	289	321	1.83e-1	SMART
HAT	323	355	2.83e1	SMART
HAT	384	416	1.08e-3	SMART
HAT	417	446	1.61e1	SMART
HAT	447	476	6.92e-2	SMART
HAT	554	586	2.2e-4	SMART
HAT	588	620	1.69e2	SMART
HAT	622	654	1.38e-1	SMART
HAT	656	687	3.41e1	SMART
HAT	689	721	3.99e1	SMART
HAT	723	755	3.38e-5	SMART
HAT	757	789	2.48e-3	SMART
HAT	791	823	5.64e1	SMART
Blast:TPR	841	874	2e-14	BLAST

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene appears to be involved in pre-mRNA splicing, possibly acting as a bridging factor between U5 and U4/U6 snRNPs in formation of the spliceosome. The encoded protein also can bind androgen receptor, providing a link between transcriptional activation and splicing. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acadm	C	A	3: 153,941,970	V11F	probably damaging	Het
Alk	A	T	17: 71,902,625	Y941*	probably null	Het
Armc4	C	T	18: 7,129,461	E906K	probably damaging	Het
Blm	A	T	7: 80,503,377		probably null	Het
Blvrb	T	C	7: 27,459,340	V55A	possibly damaging	Het
Cdh23	T	A	10: 60,317,942	T2288S	probably damaging	Het
Csnk1g1	T	A	9: 66,007,785	M242K	probably damaging	Het
Cyp2c29	G	A	19: 39,290,847	G96D	possibly damaging	Het
Cyp2d26	T	A	15: 82,792,626	H173L	probably benign	Het
Cyp2g1	T	A	7: 26,811,446	S131T	probably benign	Het
Dupd1	G	A	14: 21,702,922	T52I	probably damaging	Het
Dzip3	T	A	16: 48,938,537		probably benign	Het
Espl1	T	C	15: 102,299,839	S427P	probably damaging	Het
Fasn	A	T	11: 120,808,180	D2424E	probably benign	Het
Flrt2	G	A	12: 95,779,483	M198I	probably benign	Het
Gen1	A	T	12: 11,242,575	S404R	probably benign	Het
Gm11596	A	T	11: 99,792,980	C105S	unknown	Het
Gm8765	A	T	13: 50,703,077	H917L	probably damaging	Het
Hdlbp	A	T	1: 93,417,511	V714D	probably damaging	Het
Igkv4-80	A	G	6: 69,016,832	V25A	probably benign	Het
Igkv8-27	C	T	6: 70,171,941	W76*	probably null	Het
Ikzf1	T	C	11: 11,748,545	L132P	probably damaging	Het
Kcna6	C	A	6: 126,738,480	C482F	possibly damaging	Het
Lhx9	A	T	1: 138,841,842	L47Q	probably damaging	Het
Lrp4	T	A	2: 91,474,002	D175E	probably damaging	Het
Lrrtm3	T	C	10: 64,088,036	K451E	probably damaging	Het
Mcm9	C	T	10: 53,541,557	V17M	probably damaging	Het
Mios	T	A	6: 8,222,492	S475R	probably benign	Het
Mmp24	C	T	2: 155,815,788	R533C	probably damaging	Het
Moxd1	C	T	10: 24,282,752	P435S	probably damaging	Het
Mta2	T	A	19: 8,950,306	I497N	probably benign	Het
Mtus2	T	C	5: 148,077,663	V422A	probably benign	Het
Ndufaf1	A	T	2: 119,656,426	F260Y	probably damaging	Het
Nfasc	C	T	1: 132,620,924		probably null	Het
Nid1	A	T	13: 13,508,720	T1128S	probably benign	Het
Olfr583	A	G	7: 103,051,931	D211G	probably benign	Het
Pcdh12	G	A	18: 38,281,693	P793L	probably benign	Het
Pclo	A	T	5: 14,676,966		probably benign	Het
Prpf31	T	A	7: 3,634,186	N161K	possibly damaging	Het
Ptprn	T	A	1: 75,258,169	H258L	probably benign	Het
Rab19	A	G	6: 39,389,798	T216A	probably benign	Het
Ryr3	A	C	2: 112,833,990	L1652W	probably damaging	Het
Six2	A	C	17: 85,685,378	S232R	possibly damaging	Het
Spag17	T	C	3: 100,027,391	V663A	probably benign	Het
Spag5	A	G	11: 78,304,623	N252S	probably benign	Het
Sptb	C	T	12: 76,609,036		probably null	Het
Synj1	A	G	16: 90,961,365		probably benign	Het
Tekt2	T	C	4: 126,324,852	H36R	possibly damaging	Het
Tjp1	A	T	7: 65,312,655	M1258K	probably damaging	Het
Txnrd3	T	C	6: 89,674,795	*502Q	probably null	Het

Other mutations in Prpf6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01461:Prpf6	APN	2	181631511	missense	probably benign
IGL01729:Prpf6	APN	2	181654917	missense	probably damaging	1.00
IGL02077:Prpf6	APN	2	181640664	missense	probably damaging	1.00
IGL02187:Prpf6	APN	2	181616016	missense	probably damaging	1.00
IGL02881:Prpf6	APN	2	181632071	missense	probably benign	0.21
IGL03220:Prpf6	APN	2	181632879	missense	probably damaging	1.00
IGL02837:Prpf6	UTSW	2	181622263	missense	probably damaging	1.00
R0069:Prpf6	UTSW	2	181615963	splice site	probably null
R0189:Prpf6	UTSW	2	181655457	missense	probably benign	0.00
R0479:Prpf6	UTSW	2	181651127	missense	probably benign	0.18
R0532:Prpf6	UTSW	2	181622211	missense	possibly damaging	0.71
R0628:Prpf6	UTSW	2	181636048	missense	probably damaging	0.96
R0674:Prpf6	UTSW	2	181631974	missense	probably benign	0.05
R1863:Prpf6	UTSW	2	181608174	missense	possibly damaging	0.81
R1954:Prpf6	UTSW	2	181632077	missense	probably benign
R1955:Prpf6	UTSW	2	181632077	missense	probably benign
R4612:Prpf6	UTSW	2	181632079	missense	possibly damaging	0.81
R4627:Prpf6	UTSW	2	181601474	missense	probably damaging	0.96
R5033:Prpf6	UTSW	2	181650106	missense	possibly damaging	0.69
R5053:Prpf6	UTSW	2	181649453	missense	probably benign	0.00
R5121:Prpf6	UTSW	2	181636043	missense	probably benign
R5181:Prpf6	UTSW	2	181649546	missense	probably damaging	0.98
R5380:Prpf6	UTSW	2	181608266	missense	probably damaging	1.00
R5490:Prpf6	UTSW	2	181608165	missense	probably benign	0.01
R5638:Prpf6	UTSW	2	181645588	missense	probably benign	0.32
R5680:Prpf6	UTSW	2	181649140	missense	probably damaging	0.99
R6152:Prpf6	UTSW	2	181621787	missense	probably damaging	1.00
R6252:Prpf6	UTSW	2	181647363	missense	probably damaging	1.00
R6317:Prpf6	UTSW	2	181631436	missense	probably benign	0.06
R6501:Prpf6	UTSW	2	181621920	nonsense	probably null
R6789:Prpf6	UTSW	2	181616051	nonsense	probably null
R7023:Prpf6	UTSW	2	181620640	missense	probably damaging	1.00
R7043:Prpf6	UTSW	2	181649504	missense	probably benign
R7214:Prpf6	UTSW	2	181640596	missense	probably damaging	1.00
R7538:Prpf6	UTSW	2	181652455	missense	probably benign	0.16

Posted On

2015-04-16