Mutagenetix > Incidental Mutation

Incidental Mutation 'R7538:Prpf6'

583692

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

045610-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7538 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

181243112-181297454 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 181294248 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 818 (V818A)

Ref Sequence

ENSEMBL: ENSMUSP00000002529 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002529] [ENSMUST00000136481] [ENSMUST00000207856]

AlphaFold

Q91YR7

Predicted Effect

probably benign
Transcript: ENSMUST00000002529
AA Change: V818A

PolyPhen 2 Score 0.162 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000002529
Gene: ENSMUSG00000002455
AA Change: V818A

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: V818A

PolyPhen 2 Score 0.162 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000121340
Gene: ENSMUSG00000002455
AA Change: V818A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000207856

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

97% (77/79)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts8	C	A	9: 30,864,766 (GRCm39)	P419H	probably damaging	Het
Adgra3	C	T	5: 50,118,792 (GRCm39)	V919I	probably benign	Het
Akap12	G	A	10: 4,303,213 (GRCm39)	V113I	probably damaging	Het
Akr1d1	T	A	6: 37,513,043 (GRCm39)	I113K	probably benign	Het
Alx3	A	T	3: 107,511,680 (GRCm39)	I230F	probably damaging	Het
Apob	A	T	12: 8,052,219 (GRCm39)	D1220V	probably damaging	Het
Ascc3	T	C	10: 50,721,796 (GRCm39)	L2083P	probably damaging	Het
Atp10b	A	G	11: 43,116,373 (GRCm39)	I907V	probably benign	Het
B4galnt3	G	T	6: 120,271,384 (GRCm39)	S46*	probably null	Het
Bfsp1	A	C	2: 143,673,755 (GRCm39)		probably null	Het
Cant1	G	A	11: 118,302,291 (GRCm39)	R9W	possibly damaging	Het
Ccdc88a	A	T	11: 29,413,370 (GRCm39)	H636L	probably benign	Het
Cfi	G	A	3: 129,652,464 (GRCm39)	R297H	probably benign	Het
Cherp	T	A	8: 73,216,263 (GRCm39)	Q749L		Het
Clec10a	A	G	11: 70,060,604 (GRCm39)	D153G	probably benign	Het
Cnga1	T	C	5: 72,769,723 (GRCm39)	K99E	probably benign	Het
Cyp2r1	A	T	7: 114,162,002 (GRCm39)	V64D	probably damaging	Het
Dact3	T	A	7: 16,609,443 (GRCm39)	W32R	probably damaging	Het
Dennd4c	T	C	4: 86,692,753 (GRCm39)	C88R	probably damaging	Het
Dock8	A	T	19: 25,135,782 (GRCm39)	D1200V	probably damaging	Het
Drosha	C	G	15: 12,926,329 (GRCm39)	S1262W	probably damaging	Het
Dtnb	T	C	12: 3,823,611 (GRCm39)	M592T	possibly damaging	Het
Eef2k	T	A	7: 120,491,215 (GRCm39)	V567E	probably benign	Het
Fem1b	A	G	9: 62,718,449 (GRCm39)	S47P	probably damaging	Het
Fryl	T	C	5: 73,180,019 (GRCm39)	E2864G	probably benign	Het
Fscn2	A	G	11: 120,258,152 (GRCm39)	N358S	possibly damaging	Het
Fsip2	T	C	2: 82,818,894 (GRCm39)	S4876P	possibly damaging	Het
Ggh	C	G	4: 20,049,833 (GRCm39)	S88C	probably damaging	Het
Grhl2	T	C	15: 37,328,603 (GRCm39)	Y410H	probably damaging	Het
Gucy2c	C	T	6: 136,686,742 (GRCm39)	G831D	probably damaging	Het
Hars1	A	T	18: 36,904,194 (GRCm39)	D228E	probably benign	Het
Hdhd5	T	C	6: 120,498,257 (GRCm39)	D114G	possibly damaging	Het
Kcna2	A	G	3: 107,011,884 (GRCm39)	Y155C	probably benign	Het
Klc1	A	G	12: 111,751,879 (GRCm39)	K441R	probably benign	Het
Kmt2a	A	G	9: 44,759,041 (GRCm39)	L936P	probably damaging	Het
Map3k6	T	C	4: 132,979,238 (GRCm39)	V1197A	probably benign	Het
Mthfsd	C	T	8: 121,825,525 (GRCm39)	A349T	probably benign	Het
Mtmr7	G	A	8: 41,050,427 (GRCm39)	R123W	probably damaging	Het
Muc16	G	A	9: 18,566,747 (GRCm39)	T1924I	unknown	Het
Muc16	T	A	9: 18,553,427 (GRCm39)	I4289F	probably benign	Het
Mybpc3	A	C	2: 90,950,832 (GRCm39)	D220A	probably damaging	Het
Neb	A	T	2: 52,146,587 (GRCm39)		probably null	Het
Nectin2	A	G	7: 19,464,544 (GRCm39)	W287R	probably damaging	Het
Nipsnap1	A	T	11: 4,834,089 (GRCm39)	T114S	probably damaging	Het
Nol9	T	C	4: 152,124,115 (GRCm39)	S102P	probably benign	Het
Olfml2b	A	T	1: 170,477,402 (GRCm39)	K179I	possibly damaging	Het
Or4a80	G	T	2: 89,582,665 (GRCm39)	P169H	probably damaging	Het
Pcnt	T	C	10: 76,235,773 (GRCm39)	M1403V	probably benign	Het
Phf7	T	C	14: 30,960,386 (GRCm39)	D284G	probably benign	Het
Pias3	A	G	3: 96,609,534 (GRCm39)	T319A	possibly damaging	Het
Pik3ip1	A	T	11: 3,283,558 (GRCm39)	I189F	probably damaging	Het
Pik3r1	T	A	13: 101,825,914 (GRCm39)	T371S	probably damaging	Het
Prmt7	A	G	8: 106,964,018 (GRCm39)	D304G	probably benign	Het
Pstpip2	A	G	18: 77,959,305 (GRCm39)	E185G	probably damaging	Het
Ptprz1	T	G	6: 22,999,895 (GRCm39)	F662V	possibly damaging	Het
Rasgrp3	T	C	17: 75,803,411 (GRCm39)	F70L	probably benign	Het
Rcor1	A	T	12: 111,034,271 (GRCm39)		probably null	Het
Rnasel	A	G	1: 153,630,306 (GRCm39)	K274R	probably benign	Het
Rsbn1l	G	A	5: 21,101,455 (GRCm39)	T695I	probably benign	Het
Rsf1	GGCG	GGCGACGGCCGCG	7: 97,229,113 (GRCm39)		probably benign	Het
Sema3a	T	C	5: 13,611,787 (GRCm39)	V351A	probably benign	Het
Serpina12	A	G	12: 104,004,587 (GRCm39)	L15P	unknown	Het
Siah1a	G	A	8: 87,451,840 (GRCm39)	R215C	probably benign	Het
Sin3a	T	A	9: 57,011,210 (GRCm39)	V489D	possibly damaging	Het
Slc22a17	A	G	14: 55,149,575 (GRCm39)	I208T	probably benign	Het
Slc36a4	G	A	9: 15,645,511 (GRCm39)	V313M	possibly damaging	Het
Sod1	T	A	16: 90,023,114 (GRCm39)	L145*	probably null	Het
Svep1	T	C	4: 58,053,260 (GRCm39)	N3362D	possibly damaging	Het
Taf4b	T	C	18: 14,946,602 (GRCm39)	L475P	probably damaging	Het
Telo2	G	T	17: 25,329,795 (GRCm39)	T239K	probably benign	Het
Trmt11	T	G	10: 30,436,870 (GRCm39)	D290A	probably damaging	Het
Trpc4	A	T	3: 54,225,516 (GRCm39)	D955V	possibly damaging	Het
Trpv6	T	C	6: 41,603,101 (GRCm39)	N257S	probably benign	Het
Usp12	T	C	5: 146,731,430 (GRCm39)	T15A	probably benign	Het
Vars2	G	T	17: 35,971,672 (GRCm39)	Q526K	probably damaging	Het
Vipas39	A	G	12: 87,310,677 (GRCm39)		probably null	Het
Zfp689	A	T	7: 127,044,010 (GRCm39)	C207S	probably damaging	Het
Zfpl1	C	A	19: 6,134,432 (GRCm39)	E18*	probably null	Het

Other mutations in Prpf6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01461:Prpf6	APN	2	181,273,304 (GRCm39)	missense	probably benign
IGL01729:Prpf6	APN	2	181,296,710 (GRCm39)	missense	probably damaging	1.00
IGL02077:Prpf6	APN	2	181,282,457 (GRCm39)	missense	probably damaging	1.00
IGL02187:Prpf6	APN	2	181,257,809 (GRCm39)	missense	probably damaging	1.00
IGL02452:Prpf6	APN	2	181,290,878 (GRCm39)	missense	probably benign	0.00
IGL02881:Prpf6	APN	2	181,273,864 (GRCm39)	missense	probably benign	0.21
IGL03220:Prpf6	APN	2	181,274,672 (GRCm39)	missense	probably damaging	1.00
IGL02837:Prpf6	UTSW	2	181,264,056 (GRCm39)	missense	probably damaging	1.00
R0069:Prpf6	UTSW	2	181,257,756 (GRCm39)	splice site	probably null
R0189:Prpf6	UTSW	2	181,297,250 (GRCm39)	missense	probably benign	0.00
R0479:Prpf6	UTSW	2	181,292,920 (GRCm39)	missense	probably benign	0.18
R0532:Prpf6	UTSW	2	181,264,004 (GRCm39)	missense	possibly damaging	0.71
R0628:Prpf6	UTSW	2	181,277,841 (GRCm39)	missense	probably damaging	0.96
R0674:Prpf6	UTSW	2	181,273,767 (GRCm39)	missense	probably benign	0.05
R1863:Prpf6	UTSW	2	181,249,967 (GRCm39)	missense	possibly damaging	0.81
R1954:Prpf6	UTSW	2	181,273,870 (GRCm39)	missense	probably benign
R1955:Prpf6	UTSW	2	181,273,870 (GRCm39)	missense	probably benign
R4612:Prpf6	UTSW	2	181,273,872 (GRCm39)	missense	possibly damaging	0.81
R4627:Prpf6	UTSW	2	181,243,267 (GRCm39)	missense	probably damaging	0.96
R5033:Prpf6	UTSW	2	181,291,899 (GRCm39)	missense	possibly damaging	0.69
R5053:Prpf6	UTSW	2	181,291,246 (GRCm39)	missense	probably benign	0.00
R5121:Prpf6	UTSW	2	181,277,836 (GRCm39)	missense	probably benign
R5181:Prpf6	UTSW	2	181,291,339 (GRCm39)	missense	probably damaging	0.98
R5380:Prpf6	UTSW	2	181,250,059 (GRCm39)	missense	probably damaging	1.00
R5490:Prpf6	UTSW	2	181,249,958 (GRCm39)	missense	probably benign	0.01
R5638:Prpf6	UTSW	2	181,287,381 (GRCm39)	missense	probably benign	0.32
R5680:Prpf6	UTSW	2	181,290,933 (GRCm39)	missense	probably damaging	0.99
R6152:Prpf6	UTSW	2	181,263,580 (GRCm39)	missense	probably damaging	1.00
R6252:Prpf6	UTSW	2	181,289,156 (GRCm39)	missense	probably damaging	1.00
R6317:Prpf6	UTSW	2	181,273,229 (GRCm39)	missense	probably benign	0.06
R6501:Prpf6	UTSW	2	181,263,713 (GRCm39)	nonsense	probably null
R6789:Prpf6	UTSW	2	181,257,844 (GRCm39)	nonsense	probably null
R7023:Prpf6	UTSW	2	181,262,433 (GRCm39)	missense	probably damaging	1.00
R7043:Prpf6	UTSW	2	181,291,297 (GRCm39)	missense	probably benign
R7214:Prpf6	UTSW	2	181,282,389 (GRCm39)	missense	probably damaging	1.00
R7696:Prpf6	UTSW	2	181,250,035 (GRCm39)	missense	possibly damaging	0.88
R8020:Prpf6	UTSW	2	181,287,363 (GRCm39)	missense	probably benign	0.05
R8345:Prpf6	UTSW	2	181,291,951 (GRCm39)	missense	probably benign
R8786:Prpf6	UTSW	2	181,262,415 (GRCm39)	missense	possibly damaging	0.77
R9151:Prpf6	UTSW	2	181,250,001 (GRCm39)	missense	possibly damaging	0.70
R9623:Prpf6	UTSW	2	181,289,137 (GRCm39)	missense	possibly damaging	0.62
RF016:Prpf6	UTSW	2	181,273,869 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CTGGCAAGGCTGGTATAATTCAG -3'
(R):5'- ACGCTGGAGCAGGAGTTTTG -3'

Sequencing Primer
(F):5'- GCAAGGCTGGTATAATTCAGGTTAC -3'
(R):5'- ATGTAGCTCATCCTGTGCAAAC -3'

Posted On

2019-10-17