Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03189:Prpf39'

412558

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Prpf39

Ensembl Gene

ENSMUSG00000035597

Gene Name

pre-mRNA processing factor 39

Synonyms

Srcs1

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.946) question?

Stock #

IGL03189

Quality Score

Status

Chromosome

Chromosomal Location

65036333-65063386 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 65043302 bp

Zygosity

Heterozygous

Amino Acid Change

Glycine to Stop codon at position 5 (G5*)

Ref Sequence

ENSEMBL: ENSMUSP00000152756 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000120580] [ENSMUST00000129956] [ENSMUST00000223315] [ENSMUST00000223341]

Predicted Effect

probably damaging
Transcript: ENSMUST00000120580
AA Change: W130L

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

SMART Domains

Protein: ENSMUSP00000112953
Gene: ENSMUSG00000035597
AA Change: W130L

Domain	Start	End	E-Value	Type
HAT	107	139	3.71e-2	SMART
HAT	141	173	4.39e-4	SMART
HAT	181	216	2.07e0	SMART
HAT	218	251	1.36e2	SMART
low complexity region	277	290	N/A	INTRINSIC
Blast:HAT	323	363	6e-18	BLAST
HAT	365	397	3.2e-6	SMART
HAT	398	431	3.21e1	SMART
HAT	505	537	3.63e1	SMART
low complexity region	645	664	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000129956
AA Change: W130L

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

SMART Domains

Protein: ENSMUSP00000114713
Gene: ENSMUSG00000035597
AA Change: W130L

Domain	Start	End	E-Value	Type
Blast:HAT	107	139	7e-17	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220462

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220798

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222154

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223105

Predicted Effect

probably benign
Transcript: ENSMUST00000223315

Predicted Effect

probably null
Transcript: ENSMUST00000223341
AA Change: G5*

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930412O13Rik	A	G	2: 9,883,823		probably benign	Het
Abcb1b	A	G	5: 8,845,814	T916A	probably benign	Het
Adam22	A	T	5: 8,111,897	Y50*	probably null	Het
Adprhl2	T	C	4: 126,317,294		probably benign	Het
Ahnak	G	A	19: 9,011,239	V3296M	possibly damaging	Het
Bfar	A	G	16: 13,687,501	D125G	possibly damaging	Het
Bmp3	A	T	5: 98,872,720	Q334L	probably benign	Het
Camsap2	A	T	1: 136,281,662	D697E	probably damaging	Het
Car11	A	G	7: 45,702,455	T103A	probably damaging	Het
Cecr2	T	A	6: 120,762,430	S1373T	probably benign	Het
Cenpm	A	G	15: 82,234,433	V160A	possibly damaging	Het
Chl1	A	T	6: 103,683,207	I365F	possibly damaging	Het
Col20a1	C	T	2: 181,009,407	Q1089*	probably null	Het
Csf1r	A	T	18: 61,105,986	T13S	probably benign	Het
Fam13a	T	C	6: 58,956,858	E249G	probably damaging	Het
Fgd6	G	A	10: 94,044,456	V391I	probably benign	Het
Fhdc1	G	A	3: 84,455,061		probably benign	Het
Fn3krp	T	C	11: 121,429,630	I267T	probably damaging	Het
Fras1	A	T	5: 96,743,071	I2820F	probably benign	Het
Fyb2	A	G	4: 105,015,742	I771V	probably damaging	Het
Glis1	A	G	4: 107,615,051	Y275C	probably damaging	Het
Hdgf	A	G	3: 87,913,428	T62A	possibly damaging	Het
Hsd17b3	C	T	13: 64,063,087		probably null	Het
Iqgap1	T	A	7: 80,713,842	Y1655F	probably benign	Het
Izumo1	A	G	7: 45,625,164	D181G	probably damaging	Het
Lrp2	T	C	2: 69,438,478		probably benign	Het
Mark1	T	C	1: 184,919,693	N95S	probably damaging	Het
Mbd5	A	G	2: 49,257,751	K658E	probably damaging	Het
Mcm6	C	T	1: 128,344,302	D453N	probably damaging	Het
Mfsd14a	T	C	3: 116,641,855	D187G	probably benign	Het
Mrpl19	G	T	6: 81,961,993	S276*	probably null	Het
Ncoa2	G	A	1: 13,190,136	T105M	probably damaging	Het
Nop14	A	G	5: 34,650,628		probably benign	Het
Olfr1018	A	G	2: 85,823,558	T196A	probably benign	Het
Olfr1152	G	A	2: 87,868,215	A75T	possibly damaging	Het
Olfr170	T	C	16: 19,606,591	T26A	probably benign	Het
Otud7b	G	A	3: 96,155,478	S678N	probably benign	Het
Pcdhb6	G	A	18: 37,336,152	V25M	probably damaging	Het
Serpinb9d	T	C	13: 33,202,912	V321A	probably damaging	Het
Sh2b1	A	G	7: 126,468,530	S613P	possibly damaging	Het
Snx30	T	C	4: 59,857,452	I55T	probably benign	Het
Spata13	T	C	14: 60,691,614	I207T	possibly damaging	Het
Suco	T	C	1: 161,857,337		probably benign	Het
Svs2	A	G	2: 164,237,112	S292P	possibly damaging	Het
Tcam1	A	G	11: 106,285,386	I313V	probably benign	Het
Tmem45a	A	T	16: 56,811,573	Y227*	probably null	Het
Tnfsf15	A	G	4: 63,730,052		probably benign	Het
Ttc26	C	T	6: 38,425,231	P553S	probably benign	Het
Vmn2r4	C	A	3: 64,389,168	R732L	possibly damaging	Het
Wdr7	C	T	18: 63,760,601	T602I	probably benign	Het

Other mutations in Prpf39

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00834:Prpf39	APN	12	65043263	missense	probably damaging	0.99
IGL01025:Prpf39	APN	12	65042481	unclassified	probably benign
IGL01323:Prpf39	APN	12	65042724	missense	possibly damaging	0.70
IGL02346:Prpf39	APN	12	65057736	missense	probably benign	0.02
IGL02966:Prpf39	APN	12	65042779	missense	probably benign	0.45
IGL03357:Prpf39	APN	12	65061437	unclassified	probably benign
R0103:Prpf39	UTSW	12	65055283	missense	possibly damaging	0.56
R0103:Prpf39	UTSW	12	65055283	missense	possibly damaging	0.56
R0328:Prpf39	UTSW	12	65043371	splice site	probably benign
R0549:Prpf39	UTSW	12	65056256	missense	probably benign	0.05
R0840:Prpf39	UTSW	12	65048206	missense	probably benign	0.21
R1248:Prpf39	UTSW	12	65053966	splice site	probably benign
R1322:Prpf39	UTSW	12	65042662	missense	possibly damaging	0.48
R1481:Prpf39	UTSW	12	65053314	missense	probably damaging	1.00
R2209:Prpf39	UTSW	12	65057915	critical splice donor site	probably null
R2232:Prpf39	UTSW	12	65044012	nonsense	probably null
R2507:Prpf39	UTSW	12	65057815	missense	probably benign	0.36
R2508:Prpf39	UTSW	12	65057815	missense	probably benign	0.36
R2959:Prpf39	UTSW	12	65042523	missense	probably damaging	1.00
R3117:Prpf39	UTSW	12	65057877	missense	possibly damaging	0.79
R3118:Prpf39	UTSW	12	65057877	missense	possibly damaging	0.79
R3980:Prpf39	UTSW	12	65061457	unclassified	probably benign
R4407:Prpf39	UTSW	12	65056266	missense	probably damaging	1.00
R4620:Prpf39	UTSW	12	65042563	missense	probably benign
R4926:Prpf39	UTSW	12	65044056	missense	possibly damaging	0.90
R5154:Prpf39	UTSW	12	65048277	missense	probably benign	0.29
R6248:Prpf39	UTSW	12	65042754	missense	probably damaging	1.00
R6334:Prpf39	UTSW	12	65042813	splice site	probably null
R6614:Prpf39	UTSW	12	65042563	missense	probably benign
R6749:Prpf39	UTSW	12	65056274	missense	possibly damaging	0.94
R6944:Prpf39	UTSW	12	65042680	missense	probably benign	0.03
R7023:Prpf39	UTSW	12	65053300	missense	possibly damaging	0.94
R7503:Prpf39	UTSW	12	65053393	missense	probably benign	0.04
R7532:Prpf39	UTSW	12	65053371	missense	probably benign	0.00
R7608:Prpf39	UTSW	12	65053446	missense	probably benign	0.41
R8286:Prpf39	UTSW	12	65056358	missense	probably benign
R8439:Prpf39	UTSW	12	65055262	missense	possibly damaging	0.95
R8787:Prpf39	UTSW	12	65042781	missense	possibly damaging	0.95

Posted On

2016-08-02