Mutagenetix > Incidental Mutation

Incidental Mutation 'R2959:Prpf39'

255860

Institutional Source

Beutler Lab

Gene Symbol

Prpf39

Ensembl Gene

ENSMUSG00000035597

Gene Name

pre-mRNA processing factor 39

Synonyms

Srcs1

Accession Numbers

Essential gene?

Probably essential (E-score: 0.952) question?

Stock #

R2959 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

65083107-65110160 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 65089297 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 12 (S12P)

Ref Sequence

ENSEMBL: ENSMUSP00000114713 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000120580
AA Change: S12P

PolyPhen 2 Score 0.645 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000112953
Gene: ENSMUSG00000035597
AA Change: S12P

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: S12P

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000114713
Gene: ENSMUSG00000035597
AA Change: S12P

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 benign
Transcript: ENSMUST00000223341

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 12 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Angptl4	G	A	17: 33,996,008 (GRCm39)	P323S	possibly damaging	Het
Cdk5rap2	ATGTG	ATG	4: 70,208,214 (GRCm39)		probably null	Het
Dnajc16	T	A	4: 141,493,856 (GRCm39)	K571*	probably null	Het
Gm10608	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	9: 118,989,784 (GRCm39)		probably null	Het
Gm5407	A	T	16: 49,117,326 (GRCm39)		noncoding transcript	Het
Gpd2	C	T	2: 57,228,987 (GRCm39)	R264*	probably null	Het
H2-M2	T	C	17: 37,794,345 (GRCm39)	T26A	probably benign	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Prss1	G	T	6: 41,440,172 (GRCm39)	D170Y	probably damaging	Het
Satb1	T	C	17: 52,082,331 (GRCm39)	D441G	possibly damaging	Het
Tas2r106	A	T	6: 131,655,068 (GRCm39)	L261*	probably null	Het
Zfp719	T	A	7: 43,239,851 (GRCm39)	S480T	possibly damaging	Het

Other mutations in Prpf39

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00834:Prpf39	APN	12	65,090,037 (GRCm39)	missense	probably damaging	0.99
IGL01025:Prpf39	APN	12	65,089,255 (GRCm39)	unclassified	probably benign
IGL01323:Prpf39	APN	12	65,089,498 (GRCm39)	missense	possibly damaging	0.70
IGL02346:Prpf39	APN	12	65,104,510 (GRCm39)	missense	probably benign	0.02
IGL02966:Prpf39	APN	12	65,089,553 (GRCm39)	missense	probably benign	0.45
IGL03189:Prpf39	APN	12	65,090,076 (GRCm39)	nonsense	probably null
IGL03357:Prpf39	APN	12	65,108,211 (GRCm39)	unclassified	probably benign
R0103:Prpf39	UTSW	12	65,102,057 (GRCm39)	missense	possibly damaging	0.56
R0103:Prpf39	UTSW	12	65,102,057 (GRCm39)	missense	possibly damaging	0.56
R0328:Prpf39	UTSW	12	65,090,145 (GRCm39)	splice site	probably benign
R0549:Prpf39	UTSW	12	65,103,030 (GRCm39)	missense	probably benign	0.05
R0840:Prpf39	UTSW	12	65,094,980 (GRCm39)	missense	probably benign	0.21
R1248:Prpf39	UTSW	12	65,100,740 (GRCm39)	splice site	probably benign
R1322:Prpf39	UTSW	12	65,089,436 (GRCm39)	missense	possibly damaging	0.48
R1481:Prpf39	UTSW	12	65,100,088 (GRCm39)	missense	probably damaging	1.00
R2209:Prpf39	UTSW	12	65,104,689 (GRCm39)	critical splice donor site	probably null
R2232:Prpf39	UTSW	12	65,090,786 (GRCm39)	nonsense	probably null
R2507:Prpf39	UTSW	12	65,104,589 (GRCm39)	missense	probably benign	0.36
R2508:Prpf39	UTSW	12	65,104,589 (GRCm39)	missense	probably benign	0.36
R3117:Prpf39	UTSW	12	65,104,651 (GRCm39)	missense	possibly damaging	0.79
R3118:Prpf39	UTSW	12	65,104,651 (GRCm39)	missense	possibly damaging	0.79
R3980:Prpf39	UTSW	12	65,108,231 (GRCm39)	unclassified	probably benign
R4407:Prpf39	UTSW	12	65,103,040 (GRCm39)	missense	probably damaging	1.00
R4620:Prpf39	UTSW	12	65,089,337 (GRCm39)	missense	probably benign
R4926:Prpf39	UTSW	12	65,090,830 (GRCm39)	missense	possibly damaging	0.90
R5154:Prpf39	UTSW	12	65,095,051 (GRCm39)	missense	probably benign	0.29
R6248:Prpf39	UTSW	12	65,089,528 (GRCm39)	missense	probably damaging	1.00
R6334:Prpf39	UTSW	12	65,089,587 (GRCm39)	splice site	probably null
R6614:Prpf39	UTSW	12	65,089,337 (GRCm39)	missense	probably benign
R6749:Prpf39	UTSW	12	65,103,048 (GRCm39)	missense	possibly damaging	0.94
R6944:Prpf39	UTSW	12	65,089,454 (GRCm39)	missense	probably benign	0.03
R7023:Prpf39	UTSW	12	65,100,074 (GRCm39)	missense	possibly damaging	0.94
R7503:Prpf39	UTSW	12	65,100,167 (GRCm39)	missense	probably benign	0.04
R7532:Prpf39	UTSW	12	65,100,145 (GRCm39)	missense	probably benign	0.00
R7608:Prpf39	UTSW	12	65,100,220 (GRCm39)	missense	probably benign	0.41
R8286:Prpf39	UTSW	12	65,103,132 (GRCm39)	missense	probably benign
R8439:Prpf39	UTSW	12	65,102,036 (GRCm39)	missense	possibly damaging	0.95
R8787:Prpf39	UTSW	12	65,089,555 (GRCm39)	missense	possibly damaging	0.95
R9101:Prpf39	UTSW	12	65,090,078 (GRCm39)	missense	probably damaging	1.00
R9153:Prpf39	UTSW	12	65,106,671 (GRCm39)	missense	probably damaging	0.99
R9448:Prpf39	UTSW	12	65,108,034 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CTTGCAATACCAAGTACTCAGAAG -3'
(R):5'- GGAAGGTTCACAGCATTTGC -3'

Sequencing Primer
(F):5'- CCTTGGGGACTAGACATGCATAC -3'
(R):5'- GAAGGTTCACAGCATTTGCCATTTC -3'

Posted On

2014-12-29