Mutagenetix > Incidental Mutation

Incidental Mutation 'R7023:Prpf6'

545743

Institutional Source

Beutler Lab

Gene Symbol

Prpf6

Ensembl Gene

ENSMUSG00000002455

Gene Name

pre-mRNA splicing factor 6

Synonyms

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

MMRRC Submission

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R7023 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

181591868-181655660 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 181620640 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 144 (D144G)

Ref Sequence

ENSEMBL: ENSMUSP00000121340 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002529] [ENSMUST00000132714] [ENSMUST00000136481]

AlphaFold

Q91YR7

Predicted Effect

probably damaging
Transcript: ENSMUST00000002529
AA Change: D144G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000002529
Gene: ENSMUSG00000002455
AA Change: D144G

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: ENSMUST00000132714

SMART Domains

Protein: ENSMUSP00000117711
Gene: ENSMUSG00000002455

Domain	Start	End	E-Value	Type
Pfam:PRP1_N	1	54	6e-11	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000136481
AA Change: D144G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000121340
Gene: ENSMUSG00000002455
AA Change: D144G

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

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833420G17Rik	A	G	13: 119,473,907	H372R	probably benign	Het
4933405O20Rik	T	C	7: 50,600,253	I345T	probably damaging	Het
4933427D14Rik	A	G	11: 72,178,403		probably null	Het
6430548M08Rik	T	C	8: 120,145,357	V8A	probably damaging	Het
9530053A07Rik	T	A	7: 28,140,038	C425*	probably null	Het
Adam2	A	T	14: 66,043,056	D501E	probably benign	Het
Agbl3	T	C	6: 34,814,769	V602A	probably benign	Het
Akap12	T	C	10: 4,356,895	M1235T	probably benign	Het
Arid5a	G	A	1: 36,317,550		probably benign	Het
Asxl1	T	A	2: 153,400,549	D1006E	probably benign	Het
AY074887	T	C	9: 54,950,865		probably benign	Het
Btbd9	T	A	17: 30,527,572	R93S	probably benign	Het
Cabp2	A	T	19: 4,082,658		probably null	Het
Cacna1e	T	C	1: 154,725,693	D76G	probably null	Het
Cd177	A	G	7: 24,759,762	I74T	probably benign	Het
Chchd1	G	A	14: 20,703,242		probably benign	Het
Col28a1	T	C	6: 8,083,763	R565G	possibly damaging	Het
Cpvl	T	A	6: 53,967,812	I80F	probably benign	Het
Csgalnact1	T	C	8: 68,358,429	T530A	probably benign	Het
Cybrd1	A	G	2: 71,138,578	D265G	probably benign	Het
Cyp2c69	A	T	19: 39,877,542	N202K	probably benign	Het
D1Pas1	A	G	1: 186,968,008	N45D	probably damaging	Het
Dclre1a	A	G	19: 56,540,206	V839A	probably damaging	Het
Degs1	A	T	1: 182,279,065	Y210N	probably damaging	Het
Doc2g	A	G	19: 4,004,778	S220G	probably benign	Het
Epb41l2	T	A	10: 25,512,977	L885Q	probably damaging	Het
Fabp1	A	T	6: 71,203,085		probably null	Het
Fat2	G	A	11: 55,310,502	S582L	probably benign	Het
Fras1	A	G	5: 96,710,084	N2079S	probably benign	Het
Gdf6	T	C	4: 9,860,210	Y431H	probably damaging	Het
Gfra1	A	T	19: 58,454,332	L6Q	probably damaging	Het
Gm45861	T	G	8: 27,581,006	S1305A	unknown	Het
Gse1	T	C	8: 120,230,648		probably benign	Het
Kmt2e	A	G	5: 23,500,487	H1303R	possibly damaging	Het
Lck	T	C	4: 129,548,865	D499G	possibly damaging	Het
Lepr	A	T	4: 101,789,287	Y805F	probably damaging	Het
Lin7a	A	T	10: 107,382,628	Y11F	possibly damaging	Het
Lrrc43	A	G	5: 123,503,763	K559E	probably damaging	Het
Megf6	T	C	4: 154,254,145	L467P	possibly damaging	Het
Mprip	G	A	11: 59,737,389	G221R	probably damaging	Het
Myo5c	T	C	9: 75,301,456	V1683A	probably damaging	Het
Nbeal2	G	A	9: 110,638,618	R501W	probably damaging	Het
Ncf1	G	T	5: 134,225,262	A219E	possibly damaging	Het
Nckap1l	T	C	15: 103,476,066	I616T	probably benign	Het
Nlrp2	A	T	7: 5,328,229	C389*	probably null	Het
Nrg3	T	C	14: 38,376,376	E507G	probably damaging	Het
Olfr1180	A	G	2: 88,412,415	L81P	probably damaging	Het
P4ha2	A	T	11: 54,131,246	T532S	probably benign	Het
Pappa	A	T	4: 65,351,718	H1623L	probably benign	Het
Paqr6	A	G	3: 88,366,046	Y115C	probably damaging	Het
Pcolce2	A	T	9: 95,678,468	Q190L	probably benign	Het
Poll	A	G	19: 45,558,838	I65T	probably benign	Het
Prmt9	T	C	8: 77,549,457		probably benign	Het
Prpf39	T	C	12: 65,053,300	V130A	possibly damaging	Het
Rgs6	T	A	12: 83,092,104		probably benign	Het
Rimbp2	A	G	5: 128,802,783		probably null	Het
Ripor2	A	G	13: 24,671,846	T90A	probably benign	Het
Rnf150	T	C	8: 82,864,077	F23S	probably damaging	Het
Rpp40	G	A	13: 35,898,906	R200W	possibly damaging	Het
Rtp3	G	A	9: 110,986,646	S217L	probably benign	Het
Sacs	A	C	14: 61,208,815	K2770T	probably benign	Het
Scn10a	A	T	9: 119,613,544	I1545N	probably damaging	Het
Scn2b	G	T	9: 45,126,140	V162L	probably damaging	Het
Sema6d	A	G	2: 124,664,911	T880A	probably damaging	Het
Slc36a4	A	G	9: 15,719,633	D16G	probably benign	Het
Slc4a8	T	A	15: 100,791,643	I378K	probably benign	Het
Smco2	T	A	6: 146,858,856	L70*	probably null	Het
Sptb	C	T	12: 76,625,088	V364I	probably damaging	Het
Susd4	A	G	1: 182,765,048	H3R	probably damaging	Het
Tbc1d16	T	C	11: 119,158,791	Q293R	probably damaging	Het
Tnfsf9	T	A	17: 57,107,317	M248K	possibly damaging	Het
Toporsl	A	G	4: 52,611,211	N368S	possibly damaging	Het
Trip11	T	C	12: 101,885,867	E361G	probably benign	Het
Trrap	T	A	5: 144,792,154	M626K	possibly damaging	Het
Ttn	A	T	2: 76,942,874	S2395T	probably damaging	Het
Ubqln3	T	C	7: 104,141,423	R487G	probably damaging	Het
Vdac1	A	G	11: 52,374,366	Y22C	probably damaging	Het
Vmn1r59	C	T	7: 5,454,478	M94I	probably benign	Het
Vmn2r10	G	T	5: 109,002,028	D383E	probably damaging	Het
Vmn2r115	T	C	17: 23,359,811	Y753H	probably damaging	Het
Vmn2r97	G	T	17: 18,914,401	C27F	probably damaging	Het
Wasf1	T	A	10: 40,936,475	V420E	unknown	Het
Zfp94	A	T	7: 24,303,396	L201Q	probably damaging	Het
Zgpat	TGGAGGAGGAGGAGGAGGA	TGGAGGAGGAGGAGGA	2: 181,366,018		probably benign	Het
Zmym4	C	A	4: 126,868,800	R1410L	probably damaging	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
IGL02452:Prpf6	APN	2	181649085	missense	probably benign	0.00
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
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
R7696:Prpf6	UTSW	2	181608242	missense	possibly damaging	0.88
R8020:Prpf6	UTSW	2	181645570	missense	probably benign	0.05
R8345:Prpf6	UTSW	2	181650158	missense	probably benign
R8786:Prpf6	UTSW	2	181620622	missense	possibly damaging	0.77
R9151:Prpf6	UTSW	2	181608208	missense	possibly damaging	0.70
RF016:Prpf6	UTSW	2	181632076	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GAATATCTCTGAAAGTAAGATACCCAG -3'
(R):5'- CAGATGATCAAACTGACACTGAAG -3'

Sequencing Primer
(F):5'- TCATTGGACCCCTTAGAACTGGAG -3'
(R):5'- TGACACTGAAGCACAAACTTCC -3'

Posted On

2019-05-13