Mutagenetix > Incidental Mutations

Incidental Mutation 'R0840:Prpf39'

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77129

Institutional Source

Beutler Lab

Gene Symbol

Prpf39

Ensembl Gene

ENSMUSG00000035597

Gene Name

pre-mRNA processing factor 39

Synonyms

Srcs1

MMRRC Submission

039019-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.945) question?

Stock #

R0840 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

65036333-65063386 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 65048206 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 219 (N219K)

Ref Sequence

ENSEMBL: ENSMUSP00000112953 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000120580
AA Change: N219K

PolyPhen 2 Score 0.207 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000112953
Gene: ENSMUSG00000035597
AA Change: N219K

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: ENSMUST00000220462

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220729

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220798

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221221

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222154

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223105

Predicted Effect

probably benign
Transcript: ENSMUST00000223315
AA Change: N100K

PolyPhen 2 Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)

Predicted Effect

probably benign
Transcript: ENSMUST00000223341

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.1%
20x: 94.1%

Validation Efficiency

100% (51/51)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810020O05Rik	G	T	6: 87,680,278		noncoding transcript	Het
2700049A03Rik	C	G	12: 71,158,883	Q434E	probably benign	Het
A930011G23Rik	T	C	5: 99,234,688	T234A	probably benign	Het
Acot5	G	A	12: 84,075,840	W399*	probably null	Het
Adra1a	A	G	14: 66,727,710	E383G	possibly damaging	Het
Ahnak	T	A	19: 9,005,063	I1237N	probably damaging	Het
Bsg	A	G	10: 79,709,685	T28A	probably damaging	Het
Cacna1i	A	T	15: 80,358,949	I436F	possibly damaging	Het
Cd109	T	C	9: 78,664,330	I417T	probably benign	Het
Cep295	A	T	9: 15,334,315	D948E	probably benign	Het
Clcn3	C	A	8: 60,929,154	V467F	probably benign	Het
Cntnap3	T	C	13: 64,787,910	S380G	possibly damaging	Het
Dab1	C	T	4: 104,731,751	A524V	probably benign	Het
Dll4	T	A	2: 119,326,485	N79K	probably benign	Het
Ep300	A	T	15: 81,644,933	N1558I	unknown	Het
Fblim1	A	G	4: 141,581,009	F330L	possibly damaging	Het
Fbxo46	T	A	7: 19,137,148	M564K	possibly damaging	Het
Fnip1	T	A	11: 54,493,181		probably benign	Het
Foxl2	A	T	9: 98,955,931	K91*	probably null	Het
Gapvd1	C	A	2: 34,729,113	V83F	probably benign	Het
Guk1	G	A	11: 59,185,095	R146C	probably damaging	Het
Irf8	G	A	8: 120,753,481	G153S	probably benign	Het
Kcnu1	T	A	8: 25,913,684	M1K	probably null	Het
Krt32	G	A	11: 100,081,242	P427S	probably benign	Het
Lrp12	A	G	15: 39,876,158	S529P	probably damaging	Het
Mettl22	T	C	16: 8,482,157	V134A	probably damaging	Het
Morc2b	G	T	17: 33,136,112	H895Q	probably benign	Het
Nrros	T	C	16: 32,143,423	D556G	probably damaging	Het
Nrxn3	A	G	12: 90,331,793	S1367G	possibly damaging	Het
Olfr129	A	G	17: 38,055,572	F7S	probably benign	Het
Olfr504	A	T	7: 108,565,616	S60T	probably benign	Het
Pcnx3	T	A	19: 5,685,701		probably null	Het
Pgap2	A	T	7: 102,237,448	M226L	probably damaging	Het
Pik3c2g	A	G	6: 139,896,072	I616M	probably damaging	Het
Pisd	A	G	5: 32,737,312	I380T	probably damaging	Het
Pkhd1	T	C	1: 20,350,521	I2454V	probably damaging	Het
Plpp2	A	G	10: 79,527,544	I151T	probably benign	Het
Polr3a	G	A	14: 24,452,200	T1295I	possibly damaging	Het
Pot1a	T	C	6: 25,748,284		probably benign	Het
Rnf17	T	A	14: 56,475,447	N790K	probably damaging	Het
Slit3	C	T	11: 35,623,436		probably benign	Het
Stx1a	T	A	5: 135,041,234		probably benign	Het
Tenm3	C	A	8: 48,335,742	V690F	probably damaging	Het
Tmcc3	A	G	10: 94,578,771	I143V	probably benign	Het
Tmem41b	G	A	7: 109,981,049	S36F	probably damaging	Het
Trim5	A	T	7: 104,265,771	W364R	probably damaging	Het
Ttn	T	C	2: 76,786,811	Y16403C	probably damaging	Het
Vps8	T	C	16: 21,456,321	S210P	probably damaging	Het
Zbtb3	T	A	19: 8,803,457	S145T	possibly damaging	Het
Zfp882	T	A	8: 71,914,686	C452*	probably null	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
IGL03189:Prpf39	APN	12	65043302	nonsense	probably null
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
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

Predicted Primers

PCR Primer
(F):5'- GAAACTGCACTCGTCTTTACTACCCTT -3'
(R):5'- ACTGCAATCTTTGCTGTTCTGGGTAT -3'

Sequencing Primer
(F):5'- TGATCAATTCTGCTATGATTCCAC -3'
(R):5'- cagatcctgctatgctgagac -3'

Posted On

2013-10-16