Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01886:Prpf8'

179134

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Prpf8

Ensembl Gene

ENSMUSG00000020850

Gene Name

pre-mRNA processing factor 8

Synonyms

Sfprp8l, D11Bwg0410e, DBF3/PRP8, Prp8

Accession Numbers

Essential gene?

Probably essential (E-score: 0.959) question?

Stock #

IGL01886

Quality Score

Status

Chromosome

Chromosomal Location

75486816-75509449 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 75495744 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 1075 (Q1075K)

Ref Sequence

ENSEMBL: ENSMUSP00000099568 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000018449] [ENSMUST00000102510] [ENSMUST00000131283]

AlphaFold

Q99PV0

Predicted Effect

probably benign
Transcript: ENSMUST00000018449
AA Change: Q1075K

PolyPhen 2 Score 0.317 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000018449
Gene: ENSMUSG00000020850
AA Change: Q1075K

Domain	Start	End	E-Value	Type
Pfam:PRO8NT	58	209	1.6e-84	PFAM
low complexity region	369	388	N/A	INTRINSIC
Pfam:PROCN	393	801	3.6e-226	PFAM
low complexity region	802	814	N/A	INTRINSIC
Pfam:RRM_4	986	1079	7.1e-49	PFAM
Pfam:U5_2-snRNA_bdg	1208	1343	1.9e-73	PFAM
Pfam:U6-snRNA_bdg	1442	1601	3.7e-97	PFAM
Pfam:PRP8_domainIV	1760	1990	1.5e-132	PFAM
JAB_MPN	2099	2233	9.02e-30	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000102510
AA Change: Q1075K

PolyPhen 2 Score 0.317 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000099568
Gene: ENSMUSG00000020850
AA Change: Q1075K

Domain	Start	End	E-Value	Type
Pfam:PRO8NT	58	209	1.6e-90	PFAM
low complexity region	369	388	N/A	INTRINSIC
Pfam:PROCN	395	801	2.9e-239	PFAM
low complexity region	802	814	N/A	INTRINSIC
Pfam:RRM_4	986	1077	1.5e-51	PFAM
Pfam:U5_2-snRNA_bdg	1210	1343	1.1e-77	PFAM
Pfam:U6-snRNA_bdg	1442	1600	4.2e-97	PFAM
Pfam:PRP8_domainIV	1760	1989	9.8e-134	PFAM
JAB_MPN	2099	2233	9.02e-30	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000131283
AA Change: Q1020K

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000115635
Gene: ENSMUSG00000020850
AA Change: Q1020K

Domain	Start	End	E-Value	Type
Pfam:PRO8NT	58	92	1.9e-13	PFAM
Pfam:PRO8NT	90	154	2.5e-30	PFAM
low complexity region	314	333	N/A	INTRINSIC
Pfam:PROCN	338	746	1.7e-226	PFAM
low complexity region	747	759	N/A	INTRINSIC
Pfam:RRM_4	931	1024	5.3e-49	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133995

Coding Region Coverage

Validation Efficiency

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 a component of both U2- and U12-dependent spliceosomes, and found to be essential for the catalytic step II in pre-mRNA splicing process. It contains several WD repeats, which function in protein-protein interactions. This protein has a sequence similarity to yeast Prp8 protein. This gene is a candidate gene for autosomal dominant retinitis pigmentosa. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice that are either heterozygous or homozygous for a knock-in allele exhibit abnormal retinal pigment epithelium morphology and late-onset retinal degeneration. These changes are more severe in homozygous mutant mice. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akt1	C	T	12: 112,659,158 (GRCm38)	V136M	probably benign	Het
Ankrd34c	A	T	9: 89,730,265 (GRCm38)	L8M	possibly damaging	Het
Anks6	C	A	4: 47,044,850 (GRCm38)	W352L	probably damaging	Het
Arhgap12	A	T	18: 6,027,613 (GRCm38)	N768K	probably damaging	Het
C130026I21Rik	A	G	1: 85,254,186 (GRCm38)		probably benign	Het
Clec7a	A	T	6: 129,463,177 (GRCm38)		probably benign	Het
Cyp3a13	G	A	5: 137,898,820 (GRCm38)	P411S	probably damaging	Het
Elavl2	A	G	4: 91,264,093 (GRCm38)	V129A	probably damaging	Het
Ercc6	T	A	14: 32,569,580 (GRCm38)	S994T	possibly damaging	Het
Esco1	T	A	18: 10,595,262 (GRCm38)	K8I	probably damaging	Het
Esr1	T	A	10: 4,856,861 (GRCm38)	I259K	probably damaging	Het
Filip1l	A	G	16: 57,571,250 (GRCm38)	I734V	possibly damaging	Het
Gm10717	C	T	9: 3,025,616 (GRCm38)	S67L	probably benign	Het
Gm10718	A	T	9: 3,025,118 (GRCm38)	Y194F	probably benign	Het
Gm21738	G	A	14: 19,416,979 (GRCm38)	S144L	probably benign	Het
Grin3a	T	A	4: 49,702,814 (GRCm38)	I891F	probably damaging	Het
Kat7	T	C	11: 95,306,133 (GRCm38)	T27A	probably benign	Het
Kdm1a	A	G	4: 136,561,016 (GRCm38)		probably null	Het
Kifc5b	T	C	17: 26,932,117 (GRCm38)	V663A	probably damaging	Het
Lama1	T	G	17: 67,807,797 (GRCm38)	S2314A	probably benign	Het
Lrrc69	C	T	4: 14,703,984 (GRCm38)	V279I	probably benign	Het
Mast3	A	T	8: 70,782,139 (GRCm38)	L774Q	possibly damaging	Het
Med27	C	A	2: 29,413,482 (GRCm38)	P9Q	probably damaging	Het
Myo5a	C	A	9: 75,169,090 (GRCm38)		probably benign	Het
Myoz1	T	C	14: 20,655,309 (GRCm38)	K14E	probably damaging	Het
Neb	T	C	2: 52,183,845 (GRCm38)		probably benign	Het
Nlrp1a	T	C	11: 71,123,501 (GRCm38)	T308A	probably benign	Het
Olfr364-ps1	A	G	2: 37,146,509 (GRCm38)	Y99C	probably damaging	Het
Olfr926	G	T	9: 38,877,548 (GRCm38)	C124F	probably damaging	Het
Orc1	T	A	4: 108,603,957 (GRCm38)		probably null	Het
Pnkp	G	A	7: 44,862,207 (GRCm38)	A76T	probably damaging	Het
Polr3h	T	C	15: 81,917,390 (GRCm38)	E95G	probably damaging	Het
Prpf40b	T	A	15: 99,304,447 (GRCm38)	M62K	unknown	Het
Ptprg	A	G	14: 12,179,280 (GRCm38)	K766E	probably benign	Het
Rabgap1l	A	T	1: 160,342,042 (GRCm38)	N778K	probably damaging	Het
Riok3	T	A	18: 12,139,385 (GRCm38)	N204K	probably damaging	Het
Shank3	A	G	15: 89,531,663 (GRCm38)	K650E	probably damaging	Het
Sim1	T	A	10: 50,984,315 (GRCm38)	S758T	probably damaging	Het
Slu7	T	G	11: 43,439,260 (GRCm38)	N171K	probably damaging	Het
Sult6b2	A	G	6: 142,790,126 (GRCm38)		probably null	Het
Taf6l	C	T	19: 8,778,086 (GRCm38)		probably null	Het
Ubtfl1	G	A	9: 18,409,721 (GRCm38)	V182M	possibly damaging	Het
Vmn2r-ps159	C	T	4: 156,338,254 (GRCm38)		noncoding transcript	Het

Other mutations in Prpf8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01375:Prpf8	APN	11	75,494,295 (GRCm38)	missense	possibly damaging	0.94
IGL01376:Prpf8	APN	11	75,494,295 (GRCm38)	missense	possibly damaging	0.94
IGL01393:Prpf8	APN	11	75,494,295 (GRCm38)	missense	possibly damaging	0.94
IGL01395:Prpf8	APN	11	75,494,295 (GRCm38)	missense	possibly damaging	0.94
IGL01554:Prpf8	APN	11	75,495,646 (GRCm38)	missense	probably damaging	1.00
IGL01560:Prpf8	APN	11	75,490,406 (GRCm38)	missense	possibly damaging	0.55
IGL01946:Prpf8	APN	11	75,499,992 (GRCm38)	missense	probably damaging	1.00
IGL02022:Prpf8	APN	11	75,501,834 (GRCm38)	nonsense	probably null
IGL02077:Prpf8	APN	11	75,495,809 (GRCm38)	missense	probably damaging	0.96
IGL02141:Prpf8	APN	11	75,490,672 (GRCm38)	missense	possibly damaging	0.68
IGL02455:Prpf8	APN	11	75,509,258 (GRCm38)	missense	probably benign	0.32
cutter	UTSW	11	75,495,426 (GRCm38)	splice site	probably null
BB009:Prpf8	UTSW	11	75,492,597 (GRCm38)	missense	possibly damaging	0.92
BB019:Prpf8	UTSW	11	75,492,597 (GRCm38)	missense	possibly damaging	0.92
PIT4514001:Prpf8	UTSW	11	75,496,355 (GRCm38)	missense	possibly damaging	0.53
R0254:Prpf8	UTSW	11	75,506,362 (GRCm38)	missense	possibly damaging	0.93
R0270:Prpf8	UTSW	11	75,505,249 (GRCm38)	missense	probably damaging	0.99
R0504:Prpf8	UTSW	11	75,501,942 (GRCm38)	splice site	probably benign
R0573:Prpf8	UTSW	11	75,490,654 (GRCm38)	missense	probably damaging	1.00
R0613:Prpf8	UTSW	11	75,503,444 (GRCm38)	missense	probably damaging	1.00
R0893:Prpf8	UTSW	11	75,493,949 (GRCm38)	missense	probably damaging	1.00
R0967:Prpf8	UTSW	11	75,494,430 (GRCm38)	missense	probably damaging	1.00
R0975:Prpf8	UTSW	11	75,508,674 (GRCm38)	unclassified	probably benign
R1123:Prpf8	UTSW	11	75,495,285 (GRCm38)	missense	probably damaging	1.00
R1183:Prpf8	UTSW	11	75,490,330 (GRCm38)	missense	possibly damaging	0.95
R1857:Prpf8	UTSW	11	75,495,423 (GRCm38)	critical splice donor site	probably null
R1901:Prpf8	UTSW	11	75,504,744 (GRCm38)	missense	probably damaging	0.99
R1950:Prpf8	UTSW	11	75,496,511 (GRCm38)	missense	possibly damaging	0.72
R2116:Prpf8	UTSW	11	75,487,721 (GRCm38)	missense	possibly damaging	0.51
R2147:Prpf8	UTSW	11	75,490,531 (GRCm38)	missense	probably benign
R2185:Prpf8	UTSW	11	75,487,113 (GRCm38)	nonsense	probably null
R2271:Prpf8	UTSW	11	75,495,363 (GRCm38)	missense	probably damaging	1.00
R2272:Prpf8	UTSW	11	75,495,363 (GRCm38)	missense	probably damaging	1.00
R2898:Prpf8	UTSW	11	75,496,034 (GRCm38)	missense	probably benign	0.00
R3744:Prpf8	UTSW	11	75,506,721 (GRCm38)	splice site	probably null
R3893:Prpf8	UTSW	11	75,500,257 (GRCm38)	missense	possibly damaging	0.73
R4400:Prpf8	UTSW	11	75,490,702 (GRCm38)	missense	possibly damaging	0.63
R4510:Prpf8	UTSW	11	75,491,826 (GRCm38)	missense	probably damaging	0.96
R4511:Prpf8	UTSW	11	75,491,826 (GRCm38)	missense	probably damaging	0.96
R4784:Prpf8	UTSW	11	75,492,505 (GRCm38)	missense	probably damaging	1.00
R5089:Prpf8	UTSW	11	75,509,228 (GRCm38)	splice site	probably null
R5186:Prpf8	UTSW	11	75,489,783 (GRCm38)	missense	possibly damaging	0.93
R5215:Prpf8	UTSW	11	75,500,204 (GRCm38)	missense	probably benign	0.02
R5288:Prpf8	UTSW	11	75,495,799 (GRCm38)	missense	probably damaging	1.00
R5362:Prpf8	UTSW	11	75,506,410 (GRCm38)	missense	possibly damaging	0.53
R5384:Prpf8	UTSW	11	75,495,799 (GRCm38)	missense	probably damaging	1.00
R5386:Prpf8	UTSW	11	75,495,799 (GRCm38)	missense	probably damaging	1.00
R5423:Prpf8	UTSW	11	75,508,958 (GRCm38)	missense	probably damaging	1.00
R5472:Prpf8	UTSW	11	75,503,643 (GRCm38)	missense	possibly damaging	0.89
R5539:Prpf8	UTSW	11	75,503,638 (GRCm38)	missense	probably benign	0.20
R5620:Prpf8	UTSW	11	75,505,101 (GRCm38)	missense	possibly damaging	0.95
R5669:Prpf8	UTSW	11	75,504,738 (GRCm38)	missense	probably damaging	1.00
R5887:Prpf8	UTSW	11	75,500,908 (GRCm38)	missense	possibly damaging	0.87
R5948:Prpf8	UTSW	11	75,509,189 (GRCm38)	missense	possibly damaging	0.95
R6073:Prpf8	UTSW	11	75,494,022 (GRCm38)	critical splice donor site	probably null
R6250:Prpf8	UTSW	11	75,493,508 (GRCm38)	missense	possibly damaging	0.95
R6358:Prpf8	UTSW	11	75,491,495 (GRCm38)	missense	probably benign	0.33
R6629:Prpf8	UTSW	11	75,495,426 (GRCm38)	splice site	probably null
R6804:Prpf8	UTSW	11	75,499,809 (GRCm38)	missense	possibly damaging	0.71
R6922:Prpf8	UTSW	11	75,490,736 (GRCm38)	missense	probably damaging	1.00
R7035:Prpf8	UTSW	11	75,504,828 (GRCm38)	missense	possibly damaging	0.72
R7038:Prpf8	UTSW	11	75,496,158 (GRCm38)	missense	probably benign	0.02
R7089:Prpf8	UTSW	11	75,508,548 (GRCm38)	missense	probably damaging	0.99
R7101:Prpf8	UTSW	11	75,490,400 (GRCm38)	missense	possibly damaging	0.85
R7114:Prpf8	UTSW	11	75,503,355 (GRCm38)	nonsense	probably null
R7182:Prpf8	UTSW	11	75,490,727 (GRCm38)	missense	possibly damaging	0.96
R7290:Prpf8	UTSW	11	75,493,957 (GRCm38)	missense	possibly damaging	0.85
R7323:Prpf8	UTSW	11	75,491,784 (GRCm38)	missense	probably benign	0.32
R7485:Prpf8	UTSW	11	75,508,912 (GRCm38)	nonsense	probably null
R7522:Prpf8	UTSW	11	75,509,276 (GRCm38)	missense	possibly damaging	0.82
R7546:Prpf8	UTSW	11	75,508,374 (GRCm38)	missense	probably damaging	1.00
R7596:Prpf8	UTSW	11	75,491,504 (GRCm38)	missense	probably benign	0.03
R7699:Prpf8	UTSW	11	75,500,196 (GRCm38)	missense	probably benign	0.02
R7731:Prpf8	UTSW	11	75,508,906 (GRCm38)	missense	probably damaging	0.97
R7821:Prpf8	UTSW	11	75,494,474 (GRCm38)	missense	probably benign	0.01
R7932:Prpf8	UTSW	11	75,492,597 (GRCm38)	missense	possibly damaging	0.92
R8039:Prpf8	UTSW	11	75,502,542 (GRCm38)	missense	possibly damaging	0.95
R8067:Prpf8	UTSW	11	75,500,150 (GRCm38)	missense	probably damaging	0.98
R8316:Prpf8	UTSW	11	75,499,815 (GRCm38)	missense	possibly damaging	0.71
R8560:Prpf8	UTSW	11	75,491,774 (GRCm38)	nonsense	probably null
R8823:Prpf8	UTSW	11	75,493,456 (GRCm38)	missense	probably benign	0.05
R8977:Prpf8	UTSW	11	75,496,044 (GRCm38)	missense	probably benign	0.12
R9116:Prpf8	UTSW	11	75,489,763 (GRCm38)	missense	possibly damaging	0.71
R9166:Prpf8	UTSW	11	75,496,514 (GRCm38)	missense	possibly damaging	0.53
R9360:Prpf8	UTSW	11	75,490,330 (GRCm38)	missense	possibly damaging	0.95
R9453:Prpf8	UTSW	11	75,506,386 (GRCm38)	missense	possibly damaging	0.56
R9518:Prpf8	UTSW	11	75,503,660 (GRCm38)	missense	possibly damaging	0.72
R9532:Prpf8	UTSW	11	75,494,782 (GRCm38)	missense	probably benign	0.01
R9626:Prpf8	UTSW	11	75,494,855 (GRCm38)	missense	possibly damaging	0.53
R9760:Prpf8	UTSW	11	75,503,431 (GRCm38)	missense	probably benign	0.20
X0028:Prpf8	UTSW	11	75,506,764 (GRCm38)	missense	probably damaging	0.99
Z1177:Prpf8	UTSW	11	75,503,334 (GRCm38)	missense	probably benign	0.35

Posted On

2014-05-07