Mutagenetix > Incidental Mutation

Incidental Mutation 'R0103:Prpf39'

34494

Institutional Source

Beutler Lab

Gene Symbol

Prpf39

Ensembl Gene

ENSMUSG00000035597

Gene Name

pre-mRNA processing factor 39

Synonyms

Srcs1

MMRRC Submission

038389-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.946) question?

Stock #

R0103 (G1)

Quality Score

175

Status

Validated (trace)

Chromosome

Chromosomal Location

65036333-65063386 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 65055283 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 378 (V378A)

Ref Sequence

ENSEMBL: ENSMUSP00000112953 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000120580
AA Change: V378A

PolyPhen 2 Score 0.556 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000112953
Gene: ENSMUSG00000035597
AA Change: V378A

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: ENSMUST00000222154

Predicted Effect

probably benign
Transcript: ENSMUST00000223315

Meta Mutation Damage Score

0.4578

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.0%
20x: 94.8%

Validation Efficiency

99% (84/85)

Allele List at MGI

Other mutations in this stock

Total: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	C	11: 9,273,951	R443S	probably damaging	Het
Anapc1	T	C	2: 128,680,452		probably benign	Het
Aqr	T	A	2: 114,149,016	I313F	probably damaging	Het
Arfgap3	A	T	15: 83,322,721		probably benign	Het
Asah2	G	T	19: 32,018,977	H374N	probably benign	Het
Avl9	G	T	6: 56,736,483	R242L	probably benign	Het
Ccdc106	C	A	7: 5,057,545	Q35K	probably benign	Het
Ccm2l	G	T	2: 153,067,919	E64*	probably null	Het
Cep85l	A	T	10: 53,278,174	D776E	possibly damaging	Het
Cfap52	T	A	11: 67,925,125	I611F	possibly damaging	Het
Cldn22	C	T	8: 47,824,554	T9M	probably benign	Het
Coa7	T	C	4: 108,338,141	L89P	possibly damaging	Het
Cox7a2l	A	T	17: 83,514,272	Y2N	probably damaging	Het
Ctns	A	C	11: 73,185,311	I299M	probably damaging	Het
Cyp27a1	A	C	1: 74,735,915	E301A	probably benign	Het
Cyp2b13	A	T	7: 26,088,710	K421M	probably damaging	Het
Cyp4f40	C	A	17: 32,676,309	C468*	probably null	Het
Cyp4f40	G	T	17: 32,676,308	C468F	probably damaging	Het
Dcun1d5	G	A	9: 7,188,788	C74Y	probably damaging	Het
Dennd4c	A	G	4: 86,812,446	Y860C	probably benign	Het
Dgkz	T	C	2: 91,934,205	T1028A	probably benign	Het
Dhx58	T	C	11: 100,695,270	T642A	probably damaging	Het
Dlg4	A	G	11: 70,031,193	Y87C	probably damaging	Het
Dnah6	C	T	6: 73,092,172	E2511K	probably damaging	Het
Entpd5	C	A	12: 84,396,943	E9*	probably null	Het
Fbln2	A	C	6: 91,271,550	I1066L	probably benign	Het
Fhl2	C	T	1: 43,153,221	R4H	probably benign	Het
Frmpd1	T	A	4: 45,229,884	I17K	probably damaging	Het
Gbp7	T	A	3: 142,546,538	N627K	probably benign	Het
Gm20388	A	G	8: 122,269,733		probably benign	Het
Gnptab	A	G	10: 88,429,519	Y331C	probably damaging	Het
Hdac4	T	C	1: 91,975,644	E521G	possibly damaging	Het
Hibadh	T	A	6: 52,557,877	M173L	probably benign	Het
Iba57	C	T	11: 59,163,613	A27T	probably benign	Het
Itga1	T	C	13: 115,016,254	I211V	probably benign	Het
Keg1	A	T	19: 12,718,916	I155F	possibly damaging	Het
Krt84	T	C	15: 101,530,236	E272G	probably damaging	Het
Lrp2	C	A	2: 69,477,040	V2892L	probably benign	Het
Ltb	A	G	17: 35,195,040		probably benign	Het
Masp1	G	A	16: 23,458,018	P579L	probably damaging	Het
Mtor	T	A	4: 148,533,902	M1724K	probably benign	Het
Myo3a	T	G	2: 22,544,322		probably benign	Het
Myo9b	C	T	8: 71,323,849		probably benign	Het
Ncor1	G	T	11: 62,343,045	Q444K	possibly damaging	Het
Nek7	A	T	1: 138,544,242	C53*	probably null	Het
Obscn	G	T	11: 59,062,696	Y4044*	probably null	Het
Olfr1458	G	A	19: 13,103,278	R3C	possibly damaging	Het
Pcdh15	A	T	10: 74,210,425	D178V	probably damaging	Het
Pcsk6	T	C	7: 65,929,097		probably benign	Het
Phxr4	T	C	9: 13,431,791		probably benign	Het
Pkhd1	T	A	1: 20,523,359	D1510V	probably benign	Het
Pkhd1l1	T	C	15: 44,597,141	C4249R	probably benign	Het
Plxnb2	A	G	15: 89,161,769	Y968H	possibly damaging	Het
Psd2	A	G	18: 36,004,717	N455S	probably damaging	Het
Ptch2	C	A	4: 117,109,425		probably benign	Het
Rab4b	A	G	7: 27,174,502	I117T	probably benign	Het
Rad9b	A	T	5: 122,331,527	V348E	probably damaging	Het
Rcor1	T	C	12: 111,109,778		probably benign	Het
Rhoc	A	T	3: 104,791,991	E32V	possibly damaging	Het
Rnf40	T	G	7: 127,600,571	V925G	probably damaging	Het
Rptor	G	T	11: 119,884,967	R988L	probably benign	Het
Slc25a32	A	T	15: 39,099,897	Y176*	probably null	Het
Slc7a1	T	A	5: 148,352,426	K4*	probably null	Het
Ss18	A	C	18: 14,679,421	Y38D	probably damaging	Het
Syt4	T	A	18: 31,447,220		probably benign	Het
Taar4	A	T	10: 23,961,406	N305Y	probably damaging	Het
Taar7b	A	T	10: 24,000,294	Y119F	probably benign	Het
Tcaf1	G	T	6: 42,686,390	D185E	probably benign	Het
Tmem138	T	C	19: 10,574,952	N62S	possibly damaging	Het
Tnfaip2	C	T	12: 111,445,810	T215M	probably benign	Het
Tnfrsf21	C	T	17: 43,038,213	H239Y	probably benign	Het
Tnfrsf25	C	T	4: 152,116,948	P65S	possibly damaging	Het
Trp53bp1	A	T	2: 121,236,759	S495R	possibly damaging	Het
Trpv3	T	C	11: 73,293,979	F597S	probably damaging	Het
Tsc22d4	A	C	5: 137,747,116	M1L	possibly damaging	Het
Ttc39a	A	G	4: 109,421,453		probably null	Het
Ttn	T	G	2: 76,761,226	H21033P	probably damaging	Het
Ugt2a3	A	G	5: 87,336,718	V149A	possibly damaging	Het
Ush2a	T	G	1: 188,319,070	I251R	possibly damaging	Het
Vamp4	T	C	1: 162,589,539	C114R	possibly damaging	Het
Wdr33	T	C	18: 31,833,335	V135A	probably damaging	Het
Zc3h13	T	A	14: 75,330,468	V1067E	probably damaging	Het
Zcwpw1	G	A	5: 137,810,113	W274*	probably null	Het
Zfp219	T	A	14: 52,006,706	H627L	probably damaging	Het

Other mutations in Prpf39

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00834:Prpf39	APN	12	65,043,263 (GRCm38)	missense	probably damaging	0.99
IGL01025:Prpf39	APN	12	65,042,481 (GRCm38)	unclassified	probably benign
IGL01323:Prpf39	APN	12	65,042,724 (GRCm38)	missense	possibly damaging	0.70
IGL02346:Prpf39	APN	12	65,057,736 (GRCm38)	missense	probably benign	0.02
IGL02966:Prpf39	APN	12	65,042,779 (GRCm38)	missense	probably benign	0.45
IGL03189:Prpf39	APN	12	65,043,302 (GRCm38)	nonsense	probably null
IGL03357:Prpf39	APN	12	65,061,437 (GRCm38)	unclassified	probably benign
R0103:Prpf39	UTSW	12	65,055,283 (GRCm38)	missense	possibly damaging	0.56
R0328:Prpf39	UTSW	12	65,043,371 (GRCm38)	splice site	probably benign
R0549:Prpf39	UTSW	12	65,056,256 (GRCm38)	missense	probably benign	0.05
R0840:Prpf39	UTSW	12	65,048,206 (GRCm38)	missense	probably benign	0.21
R1248:Prpf39	UTSW	12	65,053,966 (GRCm38)	splice site	probably benign
R1322:Prpf39	UTSW	12	65,042,662 (GRCm38)	missense	possibly damaging	0.48
R1481:Prpf39	UTSW	12	65,053,314 (GRCm38)	missense	probably damaging	1.00
R2209:Prpf39	UTSW	12	65,057,915 (GRCm38)	critical splice donor site	probably null
R2232:Prpf39	UTSW	12	65,044,012 (GRCm38)	nonsense	probably null
R2507:Prpf39	UTSW	12	65,057,815 (GRCm38)	missense	probably benign	0.36
R2508:Prpf39	UTSW	12	65,057,815 (GRCm38)	missense	probably benign	0.36
R2959:Prpf39	UTSW	12	65,042,523 (GRCm38)	missense	probably damaging	1.00
R3117:Prpf39	UTSW	12	65,057,877 (GRCm38)	missense	possibly damaging	0.79
R3118:Prpf39	UTSW	12	65,057,877 (GRCm38)	missense	possibly damaging	0.79
R3980:Prpf39	UTSW	12	65,061,457 (GRCm38)	unclassified	probably benign
R4407:Prpf39	UTSW	12	65,056,266 (GRCm38)	missense	probably damaging	1.00
R4620:Prpf39	UTSW	12	65,042,563 (GRCm38)	missense	probably benign
R4926:Prpf39	UTSW	12	65,044,056 (GRCm38)	missense	possibly damaging	0.90
R5154:Prpf39	UTSW	12	65,048,277 (GRCm38)	missense	probably benign	0.29
R6248:Prpf39	UTSW	12	65,042,754 (GRCm38)	missense	probably damaging	1.00
R6334:Prpf39	UTSW	12	65,042,813 (GRCm38)	splice site	probably null
R6614:Prpf39	UTSW	12	65,042,563 (GRCm38)	missense	probably benign
R6749:Prpf39	UTSW	12	65,056,274 (GRCm38)	missense	possibly damaging	0.94
R6944:Prpf39	UTSW	12	65,042,680 (GRCm38)	missense	probably benign	0.03
R7023:Prpf39	UTSW	12	65,053,300 (GRCm38)	missense	possibly damaging	0.94
R7503:Prpf39	UTSW	12	65,053,393 (GRCm38)	missense	probably benign	0.04
R7532:Prpf39	UTSW	12	65,053,371 (GRCm38)	missense	probably benign	0.00
R7608:Prpf39	UTSW	12	65,053,446 (GRCm38)	missense	probably benign	0.41
R8286:Prpf39	UTSW	12	65,056,358 (GRCm38)	missense	probably benign
R8439:Prpf39	UTSW	12	65,055,262 (GRCm38)	missense	possibly damaging	0.95
R8787:Prpf39	UTSW	12	65,042,781 (GRCm38)	missense	possibly damaging	0.95
R9101:Prpf39	UTSW	12	65,043,304 (GRCm38)	missense	probably damaging	1.00
R9153:Prpf39	UTSW	12	65,059,897 (GRCm38)	missense	probably damaging	0.99
R9448:Prpf39	UTSW	12	65,061,260 (GRCm38)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AGCTTAGCTTCCTCAGCCCCAA -3'
(R):5'- TGCAAGCAGACCATCTCCTAATGC -3'

Sequencing Primer
(F):5'- gaagacagccagggctac -3'
(R):5'- CCATCTCCTAATGCAACAGATATAG -3'

Posted On

2013-05-09