Mutagenetix > Incidental Mutation

Incidental Mutation 'R1481:Prpf39'

164394

Institutional Source

Beutler Lab

Gene Symbol

Prpf39

Ensembl Gene

ENSMUSG00000035597

Gene Name

pre-mRNA processing factor 39

Synonyms

Srcs1

MMRRC Submission

039534-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.942) question?

Stock #

R1481 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

65036333-65063386 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 65053314 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 135 (P135S)

Ref Sequence

ENSEMBL: ENSMUSP00000152508 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000120580
AA Change: P254S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000112953
Gene: ENSMUSG00000035597
AA Change: P254S

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

noncoding transcript
Transcript: ENSMUST00000220798

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221221

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222154

Predicted Effect

probably damaging
Transcript: ENSMUST00000223315
AA Change: P135S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Meta Mutation Damage Score

0.4517

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.6%

Validation Efficiency

100% (71/71)

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	T	C	3: 37,008,434	V3365A	probably damaging	Het
Arhgef5	A	G	6: 43,274,634	H773R	probably damaging	Het
Bmp3	G	A	5: 98,872,470	V251M	probably damaging	Het
Ccdc175	C	A	12: 72,101,948		probably benign	Het
Ccdc178	C	T	18: 22,105,621	G313D	probably benign	Het
Cd300ld2	T	A	11: 115,012,633	I129F	probably benign	Het
Cep170	T	C	1: 176,782,385	Q120R	possibly damaging	Het
Ckb	T	C	12: 111,671,262	H145R	probably benign	Het
Cntnap5a	T	A	1: 116,117,663	N336K	probably damaging	Het
Coil	T	A	11: 88,974,060	C38S	possibly damaging	Het
Cps1	T	C	1: 67,143,882	V133A	probably damaging	Het
Cspg4	A	G	9: 56,887,810	E943G	probably damaging	Het
Cyp2c54	C	T	19: 40,047,588	D293N	probably benign	Het
Cyp2f2	T	C	7: 27,121,877	S72P	probably benign	Het
Dip2c	G	A	13: 9,551,866		probably null	Het
Dock6	T	C	9: 21,820,622	T1158A	probably benign	Het
Dscaml1	G	A	9: 45,672,643	V469I	probably benign	Het
Efcab14	A	G	4: 115,756,517	T221A	probably benign	Het
Ehbp1	T	C	11: 22,006,782	*1207W	probably null	Het
Eln	T	C	5: 134,706,572	K786E	probably damaging	Het
Fyb	C	T	15: 6,619,647	P385S	probably benign	Het
Galr1	A	G	18: 82,405,741	I137T	possibly damaging	Het
Gcm1	A	T	9: 78,059,717	K73*	probably null	Het
Gemin5	T	C	11: 58,141,654	N775D	probably damaging	Het
Gli3	C	T	13: 15,613,850	H147Y	probably damaging	Het
Gm10754	G	T	10: 97,682,227		probably benign	Het
Gpr37	T	C	6: 25,669,138	D569G	probably damaging	Het
Grina	T	A	15: 76,249,089	Y286N	probably damaging	Het
Gtf3c1	C	A	7: 125,693,138		probably null	Het
Kcnc4	C	T	3: 107,448,218	V305M	probably benign	Het
Kntc1	T	C	5: 123,778,275	F724L	probably benign	Het
Kpnb1	T	C	11: 97,178,310	Y249C	probably damaging	Het
Krt6b	T	C	15: 101,678,374	T269A	probably benign	Het
Lamc1	T	C	1: 153,221,634	K1555E	probably damaging	Het
Maneal	T	C	4: 124,861,857	Y104C	probably damaging	Het
Map1b	T	C	13: 99,431,171	T1681A	unknown	Het
Mettl17	T	C	14: 51,890,703	L272P	probably benign	Het
Mib2	T	A	4: 155,656,999	S357C	probably benign	Het
Mmp19	C	A	10: 128,798,178	T316K	possibly damaging	Het
Mroh9	C	T	1: 163,026,509	G774E	probably damaging	Het
Myh1	T	C	11: 67,205,499		probably benign	Het
Ncor2	C	A	5: 125,027,138	E963*	probably null	Het
Nol6	T	A	4: 41,123,596	T51S	probably benign	Het
Nsun3	A	T	16: 62,735,369	C265S	probably damaging	Het
Nup214	C	T	2: 32,034,466	S1669F	probably damaging	Het
Nutm2	T	A	13: 50,469,481	N71K	probably damaging	Het
Olfr498	C	T	7: 108,465,960	T212I	probably benign	Het
Olfr713	T	G	7: 107,036,149	L5R	probably benign	Het
Orc3	T	A	4: 34,607,228	E34V	possibly damaging	Het
Pcdhb13	T	A	18: 37,442,836	L89Q	probably damaging	Het
Polr3a	A	T	14: 24,452,548	V1241E	probably null	Het
Psrc1	T	C	3: 108,384,993	V34A	probably benign	Het
Rab27a	G	A	9: 73,082,402	V52M	probably benign	Het
Rassf9	A	G	10: 102,546,034	T424A	probably benign	Het
Ripor3	G	T	2: 168,000,377	R61S	possibly damaging	Het
Ryr3	C	T	2: 112,636,522		probably benign	Het
Samd4b	C	T	7: 28,414,010	G177R	probably damaging	Het
Setbp1	C	T	18: 78,783,301	V1366M	probably benign	Het
Smad1	G	A	8: 79,343,730	A393V	probably benign	Het
Tctn2	T	C	5: 124,607,763		noncoding transcript	Het
Tmem45a	A	T	16: 56,811,602	F218I	possibly damaging	Het
Tpte	A	T	8: 22,355,471	R512S	probably damaging	Het
Trim37	T	A	11: 87,129,759	L22*	probably null	Het
Ttc6	A	G	12: 57,737,130	N1792D	probably damaging	Het
Ttn	A	G	2: 76,945,616	M1694T	probably damaging	Het
Vmn1r181	T	A	7: 23,984,712	W201R	probably damaging	Het
Wdr74	C	T	19: 8,738,228	L198F	possibly damaging	Het
Zfp560	T	C	9: 20,348,790	T259A	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
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
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
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
R9101:Prpf39	UTSW	12	65043304	missense	probably damaging	1.00
R9153:Prpf39	UTSW	12	65059897	missense	probably damaging	0.99
R9448:Prpf39	UTSW	12	65061260	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TGTCTTCTACATTCCACTGCAAAGACAG -3'
(R):5'- GGCACACTTTATCACCATTCCATTCCTG -3'

Sequencing Primer
(F):5'- CAAAGACAGTGGGATGGAATTATATC -3'
(R):5'- GCTACCTAGTTTCTTATTCACTGAC -3'

Posted On

2014-03-28