Mutagenetix > Incidental Mutation

Incidental Mutation 'R6944:Prpf39'

540796

Institutional Source

Beutler Lab

Gene Symbol

Prpf39

Ensembl Gene

ENSMUSG00000035597

Gene Name

pre-mRNA processing factor 39

Synonyms

Srcs1

MMRRC Submission

045058-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.947) question?

Stock #

R6944 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

65083107-65110160 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 65089454 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 64 (V64E)

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

probably benign
Transcript: ENSMUST00000120580
AA Change: V64E

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000112953
Gene: ENSMUSG00000035597
AA Change: V64E

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
AA Change: V64E

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000114713
Gene: ENSMUSG00000035597
AA Change: V64E

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

Predicted Effect

probably benign
Transcript: ENSMUST00000223315

Predicted Effect

probably benign
Transcript: ENSMUST00000223341

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.2%

Validation Efficiency

97% (75/77)

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1b	T	G	5: 8,863,693 (GRCm39)	V216G	probably damaging	Het
Abcb5	T	C	12: 118,875,265 (GRCm39)	R636G	probably benign	Het
Ago1	G	T	4: 126,354,215 (GRCm39)	F198L	possibly damaging	Het
Ankrd42	C	T	7: 92,268,755 (GRCm39)		probably null	Het
Anxa11	T	A	14: 25,875,176 (GRCm39)	F274I	probably damaging	Het
Ascc1	T	C	10: 59,849,475 (GRCm39)	L122P	probably damaging	Het
Bptf	T	C	11: 106,971,649 (GRCm39)	S953G	probably damaging	Het
Chml	T	A	1: 175,515,727 (GRCm39)	N65Y	probably damaging	Het
Clcc1	A	G	3: 108,578,284 (GRCm39)	K262E	probably damaging	Het
Clhc1	T	G	11: 29,519,346 (GRCm39)	D384E	probably damaging	Het
Cnot2	G	A	10: 116,373,128 (GRCm39)		probably benign	Het
Cntnap1	T	C	11: 101,073,730 (GRCm39)	V627A	probably damaging	Het
Col6a4	A	G	9: 105,949,370 (GRCm39)	V755A	probably damaging	Het
Cyp4f18	T	A	8: 72,743,738 (GRCm39)	I406F	probably benign	Het
Dclre1a	T	C	19: 56,533,451 (GRCm39)	E381G	possibly damaging	Het
Dnah1	A	G	14: 30,990,861 (GRCm39)	Y3153H	probably damaging	Het
Dnah8	C	A	17: 31,013,633 (GRCm39)	D3791E	probably benign	Het
Dnah9	T	C	11: 65,975,975 (GRCm39)	E1358G	possibly damaging	Het
Eef1g	G	A	19: 8,945,656 (GRCm39)	R30H	probably benign	Het
Egln3	A	T	12: 54,230,738 (GRCm39)	I181N	probably benign	Het
Entpd6	A	G	2: 150,605,519 (GRCm39)	T250A	probably damaging	Het
Epb41l5	C	T	1: 119,536,859 (GRCm39)	R344Q	probably damaging	Het
Fam20b	T	C	1: 156,515,091 (GRCm39)	D258G	probably benign	Het
Fbxw18	A	T	9: 109,531,655 (GRCm39)	D21E	probably damaging	Het
Fbxw21	T	C	9: 108,986,603 (GRCm39)	E92G	probably damaging	Het
Fzd6	T	A	15: 38,889,212 (GRCm39)	M110K	possibly damaging	Het
Golgb1	C	T	16: 36,732,475 (GRCm39)	P574L	probably benign	Het
Gpr153	A	G	4: 152,363,820 (GRCm39)	E80G	probably damaging	Het
Gvin2	G	A	7: 105,551,187 (GRCm39)	Q622*	probably null	Het
Kcnt1	T	C	2: 25,767,840 (GRCm39)		probably benign	Het
Kcnt2	T	G	1: 140,511,803 (GRCm39)	V962G	probably benign	Het
Malt1	T	C	18: 65,570,991 (GRCm39)	V109A	probably benign	Het
Marchf7	A	G	2: 60,064,587 (GRCm39)	I288V	probably benign	Het
Mief1	C	T	15: 80,133,644 (GRCm39)	R234C	probably damaging	Het
Morc3	A	G	16: 93,667,460 (GRCm39)	S613G	probably benign	Het
Myt1	A	G	2: 181,439,387 (GRCm39)	E345G	possibly damaging	Het
Napb	T	C	2: 148,548,889 (GRCm39)	T133A	probably benign	Het
Nwd1	T	C	8: 73,380,162 (GRCm39)	V16A	possibly damaging	Het
Oas1f	G	A	5: 120,986,247 (GRCm39)	E67K	probably benign	Het
Obscn	T	C	11: 58,929,756 (GRCm39)	K5153R	probably damaging	Het
Or2w3b	T	A	11: 58,623,068 (GRCm39)	S308C	possibly damaging	Het
Or5a3	G	T	19: 12,400,628 (GRCm39)	M318I	probably benign	Het
Or5g26	C	T	2: 85,494,195 (GRCm39)	M194I	probably benign	Het
Or6d12	T	C	6: 116,492,791 (GRCm39)	F18L	possibly damaging	Het
Pdcd2	T	C	17: 15,745,632 (GRCm39)	N185S	possibly damaging	Het
Pgap1	A	T	1: 54,569,320 (GRCm39)	W349R	probably damaging	Het
Ptpn13	T	A	5: 103,624,857 (GRCm39)	W54R	probably null	Het
Rbms3	G	T	9: 116,939,173 (GRCm39)	P29Q	probably damaging	Het
Rnf123	A	G	9: 107,940,822 (GRCm39)	L679P	probably benign	Het
Samd4	T	A	14: 47,254,092 (GRCm39)	D84E	possibly damaging	Het
Scarf1	T	C	11: 75,413,032 (GRCm39)	V426A	probably benign	Het
Slc12a1	A	G	2: 125,002,454 (GRCm39)	N145D	probably damaging	Het
Slc2a6	A	T	2: 26,916,076 (GRCm39)	M99K	probably damaging	Het
Slc34a2	A	T	5: 53,222,225 (GRCm39)	I306L	probably benign	Het
Slx4ip	A	G	2: 136,910,195 (GRCm39)	K397E	probably damaging	Het
Smr3a	C	T	5: 88,155,949 (GRCm39)		probably benign	Het
Spata31h1	A	C	10: 82,132,056 (GRCm39)	I318R	probably benign	Het
Spef2	T	C	15: 9,592,835 (GRCm39)	E1502G	probably damaging	Het
Sri	A	T	5: 8,113,365 (GRCm39)	T119S	probably benign	Het
Synrg	T	A	11: 83,915,912 (GRCm39)	L1085H	probably damaging	Het
Taf7	A	T	18: 37,775,910 (GRCm39)	L219H	probably damaging	Het
Tmco3	T	A	8: 13,353,729 (GRCm39)	V347E	probably damaging	Het
Tmem8b	A	T	4: 43,674,465 (GRCm39)	I250F	probably damaging	Het
Tom1l2	A	G	11: 60,139,817 (GRCm39)	V239A	probably damaging	Het
Trpm1	T	A	7: 63,893,181 (GRCm39)	M1011K	probably damaging	Het
Tspan9	A	T	6: 127,942,769 (GRCm39)	Y153N	probably benign	Het
Ttll11	T	C	2: 35,642,306 (GRCm39)	H675R	probably benign	Het
Unc50	C	T	1: 37,471,743 (GRCm39)	T131M	probably damaging	Het
Vgf	T	A	5: 137,061,206 (GRCm39)	I456N	probably damaging	Het
Vmn1r223	A	G	13: 23,433,483 (GRCm39)	I26V	unknown	Het
Vmn1r39	T	C	6: 66,782,205 (GRCm39)	M1V	probably null	Het
Vmn2r111	T	C	17: 22,778,032 (GRCm39)	N549S	possibly damaging	Het
Vmn2r14	T	C	5: 109,363,925 (GRCm39)	T664A	probably benign	Het
Vmn2r14	G	A	5: 109,364,140 (GRCm39)	T592I	probably benign	Het
Vmn2r96	T	A	17: 18,817,891 (GRCm39)	F489L	probably benign	Het
Vmn2r-ps158	T	C	7: 42,697,393 (GRCm39)	F817L	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
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
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'- CCACATGGAAGAGTACAGGAACTC -3'
(R):5'- ATATTCAGCATCGTGTCCCC -3'

Sequencing Primer
(F):5'- CTCTGATAATGGCAGCACAGGC -3'
(R):5'- AGCATCGTGTCCCCAGACTC -3'

Posted On

2018-11-28