Mutagenetix > Incidental Mutation

Incidental Mutation 'R2507:Prpf39'

251388

Institutional Source

Beutler Lab

Gene Symbol

Prpf39

Ensembl Gene

ENSMUSG00000035597

Gene Name

pre-mRNA processing factor 39

Synonyms

Srcs1

MMRRC Submission

040413-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.947) question?

Stock #

R2507 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

65083107-65110160 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 65104589 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 551 (F551L)

Ref Sequence

ENSEMBL: ENSMUSP00000112953 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021332] [ENSMUST00000120580] [ENSMUST00000129956] [ENSMUST00000220730] [ENSMUST00000221166] [ENSMUST00000221913] [ENSMUST00000223315]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000021332

SMART Domains

Protein: ENSMUSP00000021332
Gene: ENSMUSG00000020949

Domain	Start	End	E-Value	Type
PDB:2KFV\|A	1	73	2e-45	PDB
low complexity region	91	100	N/A	INTRINSIC
Pfam:FKBP_C	121	221	3.9e-33	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000120580
AA Change: F551L

PolyPhen 2 Score 0.358 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000112953
Gene: ENSMUSG00000035597
AA Change: F551L

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 benign
Transcript: ENSMUST00000129956

SMART Domains

Protein: ENSMUSP00000114713
Gene: ENSMUSG00000035597

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000157165

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220462

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220729

Predicted Effect

probably benign
Transcript: ENSMUST00000220730

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220957

Predicted Effect

probably benign
Transcript: ENSMUST00000221166

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220798

Predicted Effect

probably benign
Transcript: ENSMUST00000221608

Predicted Effect

probably benign
Transcript: ENSMUST00000221913

Predicted Effect

probably benign
Transcript: ENSMUST00000220983

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222154

Predicted Effect

probably benign
Transcript: ENSMUST00000223315

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222684

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223167

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700020N01Rik	A	G	10: 21,497,681 (GRCm39)		probably benign	Het
4930535I16Rik	G	A	4: 123,811,740 (GRCm39)		probably benign	Het
Akr1b1	C	T	6: 34,286,999 (GRCm39)	E186K	probably damaging	Het
Apc	A	T	18: 34,449,590 (GRCm39)	N2128I	possibly damaging	Het
Api5	T	C	2: 94,260,162 (GRCm39)	I31M	probably damaging	Het
Armcx4	T	G	X: 133,596,128 (GRCm39)	V2012G	possibly damaging	Het
Aurka	T	C	2: 172,212,365 (GRCm39)	E4G	probably benign	Het
B4galt5	T	A	2: 167,148,558 (GRCm39)	M187L	probably benign	Het
Bsn	T	C	9: 107,993,313 (GRCm39)	D813G	probably damaging	Het
Bub1	A	T	2: 127,643,343 (GRCm39)	D1000E	probably benign	Het
Cacna1f	T	G	X: 7,492,687 (GRCm39)		probably null	Het
Cdh6	A	G	15: 13,041,447 (GRCm39)	I539T	probably benign	Het
Cdhr3	T	C	12: 33,088,914 (GRCm39)	D756G	probably benign	Het
Cenph	A	T	13: 100,907,744 (GRCm39)	D85E	probably benign	Het
Chd9	C	T	8: 91,760,615 (GRCm39)	P2120L	probably benign	Het
Clec2h	A	G	6: 128,650,945 (GRCm39)	N75S	probably benign	Het
Cnga1	C	T	5: 72,776,404 (GRCm39)	V20I	possibly damaging	Het
Cox4i1	T	A	8: 121,400,029 (GRCm39)	V51E	possibly damaging	Het
Cpne3	A	T	4: 19,553,871 (GRCm39)	N53K	probably damaging	Het
Cpt1b	A	G	15: 89,303,301 (GRCm39)	F585L	probably benign	Het
Daam1	G	A	12: 72,021,997 (GRCm39)	D732N	probably damaging	Het
Dner	A	T	1: 84,560,801 (GRCm39)	C115S	probably damaging	Het
Dop1a	T	A	9: 86,395,170 (GRCm39)	F759Y	probably damaging	Het
Dst	T	C	1: 34,050,990 (GRCm39)	Y29H	probably damaging	Het
Dst	T	C	1: 34,227,498 (GRCm39)	V1875A	possibly damaging	Het
Duox1	A	G	2: 122,163,619 (GRCm39)	D817G	probably benign	Het
Emc2	A	T	15: 43,375,094 (GRCm39)		probably null	Het
Erich3	A	T	3: 154,404,296 (GRCm39)	E51V	probably null	Het
Exoc2	A	G	13: 31,066,348 (GRCm39)	Y443H	possibly damaging	Het
Fbf1	T	C	11: 116,046,252 (GRCm39)	R200G	probably benign	Het
Fdxr	G	A	11: 115,162,806 (GRCm39)	T100I	probably damaging	Het
Galnt11	C	G	5: 25,452,610 (GRCm39)	P41A	probably damaging	Het
Galnt4	A	G	10: 98,945,148 (GRCm39)	K291R	possibly damaging	Het
Gm12695	T	A	4: 96,642,426 (GRCm39)	E301V	probably damaging	Het
Gopc	C	T	10: 52,229,422 (GRCm39)		probably null	Het
Gria1	A	T	11: 57,180,146 (GRCm39)	T699S	probably null	Het
Gsr	T	G	8: 34,170,316 (GRCm39)	D200E	probably benign	Het
Ikzf2	G	A	1: 69,578,447 (GRCm39)	A282V	probably benign	Het
Irak2	T	C	6: 113,624,639 (GRCm39)	I45T	probably damaging	Het
Irx1	T	C	13: 72,107,939 (GRCm39)	K248E	probably damaging	Het
Kcns3	A	C	12: 11,142,087 (GRCm39)	V204G	possibly damaging	Het
Lmo1	C	A	7: 108,739,848 (GRCm39)	M91I	probably damaging	Het
Map3k21	A	G	8: 126,666,677 (GRCm39)	D623G	possibly damaging	Het
Map4	A	G	9: 109,866,551 (GRCm39)		probably benign	Het
Mark3	T	A	12: 111,593,676 (GRCm39)	V236E	probably damaging	Het
Med23	A	G	10: 24,786,711 (GRCm39)	D939G	probably damaging	Het
Mrgpra9	A	G	7: 46,885,242 (GRCm39)	C142R	possibly damaging	Het
N4bp2	T	A	5: 65,947,404 (GRCm39)	D11E	probably benign	Het
Ntng2	T	C	2: 29,097,531 (GRCm39)	N310S	probably damaging	Het
Or10ak7	T	C	4: 118,791,122 (GRCm39)	M308V	probably benign	Het
Or6b3	A	G	1: 92,439,100 (GRCm39)	S217P	probably damaging	Het
Pcolce	A	G	5: 137,605,313 (GRCm39)	V260A	possibly damaging	Het
Pds5b	C	A	5: 150,679,893 (GRCm39)	T533K	possibly damaging	Het
Pecr	A	G	1: 72,301,135 (GRCm39)	Y268H	probably benign	Het
Phax	T	A	18: 56,719,956 (GRCm39)	F299Y	probably damaging	Het
Phip	T	C	9: 82,797,392 (GRCm39)	H537R	possibly damaging	Het
Pramel32	T	A	4: 88,547,448 (GRCm39)	K161N	possibly damaging	Het
Ptch1	T	G	13: 63,672,773 (GRCm39)	E944A	probably benign	Het
Ralgapa1	G	A	12: 55,764,986 (GRCm39)	P889S	probably damaging	Het
Rpap1	A	G	2: 119,610,535 (GRCm39)		probably null	Het
Rufy3	T	C	5: 88,797,757 (GRCm39)	S645P	probably damaging	Het
Samd1	CGAGGAGGAGGAGGAGGAGGA	CGAGGAGGAGGAGGAGGA	8: 84,725,625 (GRCm39)		probably benign	Het
Spata7	G	T	12: 98,624,709 (GRCm39)	A172S	probably benign	Het
Stk35	A	G	2: 129,643,435 (GRCm39)	T140A	probably damaging	Het
Thop1	T	G	10: 80,906,098 (GRCm39)	M1R	probably null	Het
Tlr1	T	C	5: 65,082,639 (GRCm39)	Y646C	probably damaging	Het
Tpp2	A	G	1: 44,040,609 (GRCm39)	Y290C	probably benign	Het
Tpr	A	G	1: 150,268,695 (GRCm39)	M1V	probably null	Het
Trim6	T	C	7: 103,877,392 (GRCm39)	F161L	probably damaging	Het
Ubash3b	T	C	9: 41,068,650 (GRCm39)	K25E	possibly damaging	Het
Unc45b	G	A	11: 82,830,963 (GRCm39)		probably null	Het
Unc80	A	G	1: 66,651,266 (GRCm39)	N1537S	possibly damaging	Het
Usb1	T	C	8: 96,069,752 (GRCm39)	F100S	probably damaging	Het
Vmn1r17	C	A	6: 57,338,244 (GRCm39)	L40F	probably damaging	Het
Vmn1r233	A	T	17: 21,214,110 (GRCm39)	M280K	probably benign	Het
Zfp37	A	T	4: 62,109,493 (GRCm39)	C524S	probably damaging	Het
Zfp426	T	C	9: 20,381,727 (GRCm39)	K420R	probably benign	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
R2508:Prpf39	UTSW	12	65,104,589 (GRCm39)	missense	probably benign	0.36
R2959:Prpf39	UTSW	12	65,089,297 (GRCm39)	missense	probably damaging	1.00
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'- TCGCTATGTATGCACACTGACAAC -3'
(R):5'- AATTACCTCCACATGTTTAGTACAC -3'

Sequencing Primer
(F):5'- TGTATGCACACTGACAACATACACG -3'
(R):5'- ACATGAGTAAGCCTGGTTACCTGC -3'

Posted On

2014-12-04