Mutagenetix > Incidental Mutation

Incidental Mutation 'R4918:Prpf18'

378360

Institutional Source

Beutler Lab

Gene Symbol

Prpf18

Ensembl Gene

ENSMUSG00000039449

Gene Name

pre-mRNA processing factor 18

Synonyms

2810441A10Rik

MMRRC Submission

042520-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4918 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

4626869-4656924 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 4641981 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 186 (D186G)

Ref Sequence

ENSEMBL: ENSMUSP00000116495 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035721] [ENSMUST00000152362] [ENSMUST00000192470]

AlphaFold

Q8BM39

Predicted Effect

probably benign
Transcript: ENSMUST00000035721
AA Change: D186G

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000041428
Gene: ENSMUSG00000039449
AA Change: D186G

Domain	Start	End	E-Value	Type
SFM	79	129	3.33e-24	SMART
Pfam:Prp18	188	332	5e-62	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140818

Predicted Effect

probably benign
Transcript: ENSMUST00000152362
AA Change: D186G

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000116495
Gene: ENSMUSG00000039449
AA Change: D186G

Domain	Start	End	E-Value	Type
SFM	79	129	3.33e-24	SMART
Pfam:Prp18	189	331	3.1e-66	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153881

Predicted Effect

probably benign
Transcript: ENSMUST00000192470

SMART Domains

Protein: ENSMUSP00000141457
Gene: ENSMUSG00000039449

Domain	Start	End	E-Value	Type
SFM	3	53	1.7e-26	SMART

Meta Mutation Damage Score

0.0972

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.4%
20x: 92.7%

Validation Efficiency

99% (116/117)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Pre-mRNA splicing occurs in 2 sequential transesterification steps. The protein encoded by this gene is found to be essential for the catalytic step II in pre-mRNA splicing process. It is found in the spliceosome, and contains seven WD repeats, which function in protein-protein interactions. This protein has a sequence similarity to the yeast splicing factor Prp18. [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
Abca6	T	A	11: 110,071,377 (GRCm39)	I1492F	probably damaging	Het
Ago4	A	C	4: 126,400,635 (GRCm39)	C693G	probably damaging	Het
Apobec2	T	C	17: 48,730,153 (GRCm39)	E171G	probably benign	Het
Arfgef3	T	A	10: 18,492,638 (GRCm39)	I1258F	probably damaging	Het
Arhgef40	A	G	14: 52,227,556 (GRCm39)	E434G	probably damaging	Het
Baz2b	T	A	2: 59,744,387 (GRCm39)	T1373S	possibly damaging	Het
Bcas1	T	C	2: 170,220,806 (GRCm39)	D324G	probably damaging	Het
Bdp1	A	T	13: 100,191,713 (GRCm39)	V1422E	probably damaging	Het
Bfsp1	C	T	2: 143,669,391 (GRCm39)	R396Q	probably benign	Het
Bnip1	C	T	17: 27,002,525 (GRCm39)		probably benign	Het
Bnip5	T	G	17: 29,127,337 (GRCm39)	Q224P	probably benign	Het
Bpifb9b	T	A	2: 154,156,026 (GRCm39)		probably null	Het
Casp8	T	C	1: 58,866,377 (GRCm39)	F126S	probably damaging	Het
Cdh26	T	C	2: 178,091,614 (GRCm39)	S58P	probably benign	Het
Cntnap2	T	C	6: 46,506,969 (GRCm39)		probably benign	Het
Col9a1	T	C	1: 24,276,339 (GRCm39)	I749T	possibly damaging	Het
Ddx50	A	T	10: 62,463,450 (GRCm39)	C414*	probably null	Het
Defb42	A	G	14: 63,285,790 (GRCm39)	I57V	probably benign	Het
Dennd5a	A	G	7: 109,500,296 (GRCm39)	F943S	probably damaging	Het
Dhx40	G	T	11: 86,695,217 (GRCm39)	H98N	possibly damaging	Het
Disp2	A	T	2: 118,620,935 (GRCm39)	S556C	probably damaging	Het
Dpysl5	T	G	5: 30,949,612 (GRCm39)	F461V	probably damaging	Het
Efcab11	T	C	12: 99,685,321 (GRCm39)	D151G	probably damaging	Het
Egfem1	T	C	3: 29,206,042 (GRCm39)	V93A	probably damaging	Het
Ehbp1	T	C	11: 22,096,592 (GRCm39)	D299G	probably benign	Het
Esyt2	T	C	12: 116,287,760 (GRCm39)	V226A	probably benign	Het
Fan1	A	T	7: 64,023,286 (GRCm39)		probably benign	Het
Fasn	T	G	11: 120,707,472 (GRCm39)	N799T	probably benign	Het
Fbxo3	T	G	2: 103,885,311 (GRCm39)	N388K	probably damaging	Het
Fer1l4	T	C	2: 155,873,220 (GRCm39)	K1287E	probably benign	Het
Fn1	A	T	1: 71,634,968 (GRCm39)		probably null	Het
Fsip2	G	A	2: 82,824,114 (GRCm39)	V6616I	possibly damaging	Het
Fut8	G	T	12: 77,521,818 (GRCm39)	A486S	probably damaging	Het
Glp2r	G	T	11: 67,648,419 (GRCm39)	Y94*	probably null	Het
Gm10764	A	G	10: 87,126,579 (GRCm39)		noncoding transcript	Het
Gm6788	C	T	19: 28,740,664 (GRCm39)		noncoding transcript	Het
Gm8122	T	C	14: 43,091,573 (GRCm39)	N65S	unknown	Het
Golga4	C	A	9: 118,387,213 (GRCm39)	S1445Y	probably damaging	Het
Gsdmd	A	G	15: 75,736,241 (GRCm39)	I123M	probably benign	Het
Hsf4	A	G	8: 105,999,367 (GRCm39)	E235G	probably benign	Het
Ifi206	T	A	1: 173,309,610 (GRCm39)	T129S	possibly damaging	Het
Jakmip1	G	A	5: 37,248,619 (GRCm39)	R93Q	probably damaging	Het
Kcnj1	T	A	9: 32,308,056 (GRCm39)	L160Q	probably damaging	Het
Kif1a	T	A	1: 93,002,700 (GRCm39)	E233V	probably benign	Het
Krt5	A	T	15: 101,618,742 (GRCm39)	Y340N	probably damaging	Het
Krt90	T	A	15: 101,470,914 (GRCm39)	H116L	possibly damaging	Het
Large2	A	G	2: 92,196,452 (GRCm39)		probably benign	Het
Marchf4	T	G	1: 72,467,938 (GRCm39)	S365R	probably benign	Het
Mei4	A	G	9: 81,772,216 (GRCm39)	T10A	probably benign	Het
Meis1	T	C	11: 18,959,222 (GRCm39)		probably benign	Het
Mllt1	T	C	17: 57,206,813 (GRCm39)	T344A	probably benign	Het
Mrps28	A	G	3: 8,947,614 (GRCm39)		probably benign	Het
Ncdn	G	A	4: 126,643,731 (GRCm39)	L364F	possibly damaging	Het
Nckap1l	A	G	15: 103,392,040 (GRCm39)	N825S	probably benign	Het
Nfat5	T	A	8: 108,051,284 (GRCm39)	D47E	probably damaging	Het
Nfix	T	C	8: 85,498,458 (GRCm39)	I172V	probably benign	Het
Nkx3-1	G	A	14: 69,428,367 (GRCm39)	G72S	probably benign	Het
Nsf	G	A	11: 103,801,185 (GRCm39)		probably benign	Het
Or1b1	A	T	2: 36,995,170 (GRCm39)	I164N	possibly damaging	Het
Or1n1b	A	G	2: 36,780,344 (GRCm39)	I172T	probably damaging	Het
Or3a1b	A	T	11: 74,012,705 (GRCm39)	I197F	probably benign	Het
Or51g2	A	T	7: 102,622,614 (GRCm39)	I195N	possibly damaging	Het
Or5ak20	C	T	2: 85,183,632 (GRCm39)	V213I	probably benign	Het
Or5b106	T	A	19: 13,123,355 (GRCm39)	I223L	possibly damaging	Het
Or5bw2	C	T	7: 6,573,643 (GRCm39)	L218F	possibly damaging	Het
Or9g10	T	C	2: 85,584,465 (GRCm39)		probably benign	Het
Pcdh20	A	C	14: 88,705,104 (GRCm39)	L732R	probably damaging	Het
Pgbd5	C	A	8: 125,097,305 (GRCm39)	K408N	probably benign	Het
Pip4k2c	T	C	10: 127,035,196 (GRCm39)	T391A	possibly damaging	Het
Ppm1k	T	A	6: 57,487,762 (GRCm39)	N354Y	probably damaging	Het
Rab3gap1	T	A	1: 127,816,914 (GRCm39)	W58R	possibly damaging	Het
Rbp3	T	C	14: 33,677,368 (GRCm39)	Y439H	probably damaging	Het
Rere	T	A	4: 150,703,601 (GRCm39)	W1528R	probably damaging	Het
Rsf1	T	C	7: 97,311,612 (GRCm39)	S781P	probably damaging	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Ryr2	A	G	13: 11,609,872 (GRCm39)	V753A	probably damaging	Het
Schip1	A	T	3: 68,315,818 (GRCm39)		probably benign	Het
Scin	T	A	12: 40,119,373 (GRCm39)	I552F	possibly damaging	Het
Scn3a	T	C	2: 65,291,799 (GRCm39)	N1649S	probably damaging	Het
Sh3rf3	A	T	10: 58,842,925 (GRCm39)	D297V	probably damaging	Het
Slc20a2	C	T	8: 23,051,020 (GRCm39)	S351L	probably damaging	Het
Slc35e2	C	A	4: 155,700,693 (GRCm39)	P272Q	probably damaging	Het
Slc4a1	A	G	11: 102,243,279 (GRCm39)	V784A	probably damaging	Het
Slco1b2	G	A	6: 141,615,096 (GRCm39)	V334I	probably benign	Het
Slf2	T	G	19: 44,960,100 (GRCm39)	D1022E	probably damaging	Het
Spag6	A	T	2: 18,750,360 (GRCm39)	I469F	probably benign	Het
Spsb2	A	C	6: 124,786,711 (GRCm39)	E148A	probably benign	Het
Sulf1	A	G	1: 12,888,720 (GRCm39)	D335G	probably damaging	Het
Tchhl1	A	G	3: 93,377,623 (GRCm39)	D109G	possibly damaging	Het
Thoc7	T	C	14: 13,953,154 (GRCm38)	I83V	probably damaging	Het
Thsd7a	A	C	6: 12,327,558 (GRCm39)	I1438S	probably damaging	Het
Tm4sf1	C	T	3: 57,200,448 (GRCm39)	G85S	probably damaging	Het
Tmem63a	T	A	1: 180,794,086 (GRCm39)	I541N	probably benign	Het
Trav6d-4	T	C	14: 52,991,240 (GRCm39)	F95S	probably damaging	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Ttn	T	C	2: 76,589,598 (GRCm39)	T21219A	probably damaging	Het
Unc80	T	C	1: 66,685,709 (GRCm39)	Y2278H	possibly damaging	Het
Usp8	A	T	2: 126,562,060 (GRCm39)	K85*	probably null	Het
Vmn2r69	T	A	7: 85,055,967 (GRCm39)	M724L	probably benign	Het
Zeb2	A	G	2: 44,886,894 (GRCm39)	I706T	probably damaging	Het
Zfp512	T	C	5: 31,634,209 (GRCm39)	S407P	probably damaging	Het
Zfp791	T	A	8: 85,837,580 (GRCm39)	I95L	probably benign	Het

Other mutations in Prpf18

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0437:Prpf18	UTSW	2	4,648,572 (GRCm39)	missense	possibly damaging	0.94
R3735:Prpf18	UTSW	2	4,648,484 (GRCm39)	missense	probably benign	0.13
R4929:Prpf18	UTSW	2	4,629,348 (GRCm39)	splice site	probably null
R5122:Prpf18	UTSW	2	4,648,520 (GRCm39)	missense	probably damaging	0.97
R5284:Prpf18	UTSW	2	4,650,481 (GRCm39)	nonsense	probably null
R5478:Prpf18	UTSW	2	4,643,705 (GRCm39)	missense	probably benign	0.01
R6272:Prpf18	UTSW	2	4,638,258 (GRCm39)	missense	probably damaging	1.00
R7217:Prpf18	UTSW	2	4,650,435 (GRCm39)	missense	probably benign	0.01
R9046:Prpf18	UTSW	2	4,640,464 (GRCm39)	missense	possibly damaging	0.69

Predicted Primers

PCR Primer
(F):5'- TCCATTATCCAGCACACATAGG -3'
(R):5'- GCATAAGACGTAGCGCATCTC -3'

Sequencing Primer
(F):5'- CATAGGGTGAGAGGCTCCAGC -3'
(R):5'- GCGCATCTCTACATAGAATGTGCAG -3'

Posted On

2016-04-15