Mutagenetix > Incidental Mutation

Incidental Mutation 'R0479:Prpf6'

43248

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

038679-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0479 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

181243112-181297454 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 181292920 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 794 (N794S)

Ref Sequence

ENSEMBL: ENSMUSP00000121340 (fasta)

Gene Model

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

AlphaFold

Q91YR7

Predicted Effect

probably benign
Transcript: ENSMUST00000002529
AA Change: N794S

PolyPhen 2 Score 0.176 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000002529
Gene: ENSMUSG00000002455
AA Change: N794S

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: N794S

PolyPhen 2 Score 0.176 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000121340
Gene: ENSMUSG00000002455
AA Change: N794S

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

Meta Mutation Damage Score

0.0689

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.6%

Validation Efficiency

98% (105/107)

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: 102 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ackr1	A	G	1: 173,159,712 (GRCm39)	V269A	probably benign	Het
Acsl1	G	A	8: 46,984,109 (GRCm39)	G543R	probably damaging	Het
Adam18	T	C	8: 25,141,838 (GRCm39)	N244D	probably benign	Het
Adgra3	C	T	5: 50,147,607 (GRCm39)	V478M	probably benign	Het
Arhgap39	C	T	15: 76,619,086 (GRCm39)	D833N	probably damaging	Het
Arhgef10	A	T	8: 15,041,070 (GRCm39)	E723V	probably damaging	Het
Arid3a	C	A	10: 79,787,128 (GRCm39)	N519K	possibly damaging	Het
Atrn	T	A	2: 130,841,085 (GRCm39)	Y1162*	probably null	Het
Cacng5	T	A	11: 107,768,777 (GRCm39)	N172Y	probably benign	Het
Cct8	C	T	16: 87,284,594 (GRCm39)	V198M	probably damaging	Het
Cep192	G	A	18: 67,991,089 (GRCm39)	S1857N	probably damaging	Het
Cherp	A	T	8: 73,216,991 (GRCm39)	D657E	possibly damaging	Het
Clca3a2	T	G	3: 144,796,610 (GRCm39)	D199A	probably damaging	Het
Cops7b	A	G	1: 86,532,798 (GRCm39)	T219A	probably benign	Het
Crb1	C	T	1: 139,126,352 (GRCm39)	M1392I	probably damaging	Het
Csf3r	A	C	4: 125,937,616 (GRCm39)	E833D	probably damaging	Het
Cutc	A	G	19: 43,756,655 (GRCm39)	E247G	probably damaging	Het
Cyp2c38	A	G	19: 39,451,449 (GRCm39)	L17P	probably damaging	Het
D5Ertd615e	T	A	5: 45,320,796 (GRCm39)		noncoding transcript	Het
Ddx60	G	T	8: 62,422,691 (GRCm39)	G643W	probably damaging	Het
Depdc1a	C	T	3: 159,226,497 (GRCm39)	T268I	probably damaging	Het
Dgke	T	C	11: 88,943,296 (GRCm39)	E231G	probably benign	Het
Dhrs7b	T	A	11: 60,746,513 (GRCm39)		probably benign	Het
Dll3	A	G	7: 28,000,974 (GRCm39)	V27A	probably damaging	Het
Dnmt3c	T	A	2: 153,556,861 (GRCm39)		probably null	Het
Duox1	T	C	2: 122,176,861 (GRCm39)	F1461L	probably damaging	Het
Enpep	A	G	3: 129,106,323 (GRCm39)	V301A	possibly damaging	Het
Eny2	T	A	15: 44,299,000 (GRCm39)		probably null	Het
Esr1	A	G	10: 4,947,911 (GRCm39)	D488G	probably damaging	Het
Ets1	A	G	9: 32,641,476 (GRCm39)	K110E	probably damaging	Het
Eya2	T	A	2: 165,557,876 (GRCm39)	Y157*	probably null	Het
F830045P16Rik	T	G	2: 129,314,608 (GRCm39)	D223A	possibly damaging	Het
Fbh1	A	G	2: 11,763,230 (GRCm39)	Y475H	probably damaging	Het
Fbxo39	T	C	11: 72,208,419 (GRCm39)	I257T	probably damaging	Het
Fkbp10	T	C	11: 100,306,740 (GRCm39)	V23A	probably damaging	Het
Foxp3	A	G	X: 7,453,583 (GRCm39)	I128V	possibly damaging	Het
Fzd7	T	C	1: 59,522,867 (GRCm39)	F250S	probably damaging	Het
Gaa	A	G	11: 119,172,062 (GRCm39)	T722A	possibly damaging	Het
Gemin5	A	G	11: 58,030,377 (GRCm39)	V816A	probably benign	Het
Glb1l3	T	A	9: 26,740,389 (GRCm39)	T314S	probably benign	Het
H2-Ab1	A	G	17: 34,483,942 (GRCm39)	E101G	possibly damaging	Het
Hydin	A	C	8: 111,325,720 (GRCm39)	T4710P	probably damaging	Het
Ica1	C	T	6: 8,754,627 (GRCm39)	V48M	probably damaging	Het
Ica1	T	C	6: 8,754,683 (GRCm39)	Y29C	probably damaging	Het
Ints7	T	A	1: 191,346,666 (GRCm39)		probably null	Het
Iqub	T	C	6: 24,505,809 (GRCm39)	E33G	probably benign	Het
Itgb1bp2	T	A	X: 100,492,806 (GRCm39)	C10S	probably damaging	Het
Katnip	T	C	7: 125,442,518 (GRCm39)	L809S	probably benign	Het
Kcnd1	T	A	X: 7,697,461 (GRCm39)	I391N	possibly damaging	Het
Kdm8	T	C	7: 125,051,812 (GRCm39)	L135P	probably damaging	Het
Ksr1	T	C	11: 78,916,109 (GRCm39)	D574G	probably damaging	Het
Lama5	C	T	2: 179,826,250 (GRCm39)	R2331H	probably benign	Het
Larp1	C	A	11: 57,933,646 (GRCm39)	N357K	possibly damaging	Het
Lgi3	C	T	14: 70,771,992 (GRCm39)		probably benign	Het
Lmbrd1	T	A	1: 24,785,878 (GRCm39)		probably benign	Het
Methig1	A	T	15: 100,272,825 (GRCm39)	K53*	probably null	Het
Mfap3	T	A	11: 57,420,469 (GRCm39)	I150N	probably damaging	Het
Mug1	A	T	6: 121,817,186 (GRCm39)	Q85L	probably benign	Het
Npl	A	G	1: 153,391,155 (GRCm39)	V200A	probably damaging	Het
Nuf2	A	T	1: 169,326,503 (GRCm39)		probably benign	Het
Obscn	A	G	11: 59,003,533 (GRCm39)	V1255A	probably damaging	Het
Or2z8	C	T	8: 72,812,244 (GRCm39)	T240M	probably damaging	Het
Or5h18	C	T	16: 58,847,491 (GRCm39)	V260M	possibly damaging	Het
Or8b51	T	C	9: 38,569,478 (GRCm39)	D70G	probably damaging	Het
P2rx1	T	C	11: 72,903,787 (GRCm39)	V283A	probably damaging	Het
Pex2	C	A	3: 5,626,355 (GRCm39)	L151F	probably damaging	Het
Pias1	A	G	9: 62,800,400 (GRCm39)		probably benign	Het
Pmfbp1	A	T	8: 110,257,105 (GRCm39)		probably benign	Het
Pogz	A	G	3: 94,783,947 (GRCm39)	K545E	possibly damaging	Het
Ppp3cb	T	C	14: 20,553,309 (GRCm39)		probably null	Het
Prl	G	A	13: 27,248,911 (GRCm39)	D189N	probably damaging	Het
Prr36	G	A	8: 4,263,930 (GRCm39)	Q579*	probably null	Het
Ptprq	A	T	10: 107,479,855 (GRCm39)	Y1138*	probably null	Het
Rabepk	A	T	2: 34,675,592 (GRCm39)	H179Q	probably damaging	Het
Rest	T	C	5: 77,430,598 (GRCm39)	S1006P	probably damaging	Het
Rimklb	A	C	6: 122,441,175 (GRCm39)		probably benign	Het
Rnpepl1	T	C	1: 92,846,587 (GRCm39)		probably benign	Het
Ro60	A	T	1: 143,633,489 (GRCm39)	D536E	possibly damaging	Het
Sacs	T	A	14: 61,428,928 (GRCm39)	L329Q	probably damaging	Het
Safb	C	T	17: 56,913,025 (GRCm39)	R914C	probably damaging	Het
Setd5	A	T	6: 113,091,994 (GRCm39)	I272F	probably damaging	Het
Sgk1	G	T	10: 21,872,209 (GRCm39)	A262S	probably benign	Het
Skint2	G	A	4: 112,481,238 (GRCm39)	V34I	possibly damaging	Het
Skint5	G	C	4: 113,512,869 (GRCm39)	Q888E	unknown	Het
Slc4a3	T	C	1: 75,528,472 (GRCm39)		probably benign	Het
Sox10	T	C	15: 79,047,519 (GRCm39)	E133G	probably damaging	Het
Spryd3	G	A	15: 102,038,835 (GRCm39)	R129*	probably null	Het
Stag1	T	A	9: 100,810,144 (GRCm39)	N782K	probably benign	Het
Stam	T	C	2: 14,122,306 (GRCm39)	L132P	probably damaging	Het
Stard9	T	A	2: 120,528,077 (GRCm39)	S1445T	probably damaging	Het
Syt5	C	T	7: 4,546,108 (GRCm39)	R94Q	probably benign	Het
Tbc1d23	A	T	16: 56,992,177 (GRCm39)	H594Q	probably damaging	Het
Tecta	T	A	9: 42,249,235 (GRCm39)	I1871F	probably damaging	Het
Tek	A	G	4: 94,692,549 (GRCm39)	D219G	probably benign	Het
Thrb	T	C	14: 18,033,643 (GRCm38)	F469L	probably damaging	Het
Tyr	T	C	7: 87,142,429 (GRCm39)	S44G	possibly damaging	Het
Usp20	T	A	2: 30,907,487 (GRCm39)	V673E	probably benign	Het
Usp28	T	C	9: 48,948,513 (GRCm39)	S873P	probably damaging	Het
Usp43	C	T	11: 67,788,100 (GRCm39)	V306M	possibly damaging	Het
Wdr17	G	T	8: 55,104,456 (GRCm39)		probably null	Het
Wsb2	T	G	5: 117,514,744 (GRCm39)		probably benign	Het
Xkrx	A	T	X: 133,051,715 (GRCm39)	L312Q	probably damaging	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
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
R7538:Prpf6	UTSW	2	181,294,248 (GRCm39)	missense	probably benign	0.16
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'- CCCAGTGTTTCCAAAAGTGGTCCTC -3'
(R):5'- TGCCTCAGAACATGAAATCAAACTGTCC -3'

Sequencing Primer
(F):5'- AAAAGTGGTCCTCTGACTTCC -3'
(R):5'- CTGAAGTCTTTGTAACCACATCAACG -3'

Posted On

2013-05-23