Mutagenetix > Incidental Mutation

Incidental Mutation 'R9101:Prpf39'

691703

Institutional Source

Beutler Lab

Gene Symbol

Prpf39

Ensembl Gene

ENSMUSG00000035597

Gene Name

pre-mRNA processing factor 39

Synonyms

Srcs1

MMRRC Submission

068915-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.947) question?

Stock #

R9101 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

65083107-65110160 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 65090078 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 131 (K131E)

Ref Sequence

ENSEMBL: ENSMUSP00000112953 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000120580
AA Change: K131E

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

SMART Domains

Protein: ENSMUSP00000112953
Gene: ENSMUSG00000035597
AA Change: K131E

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 damaging
Transcript: ENSMUST00000129956
AA Change: K131E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000114713
Gene: ENSMUSG00000035597
AA Change: K131E

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

Predicted Effect

probably benign
Transcript: ENSMUST00000223315

Predicted Effect

silent
Transcript: ENSMUST00000223341

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

98% (59/60)

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam6b	T	C	12: 113,455,376 (GRCm39)	V731A	probably benign	Het
Adamts7	T	C	9: 90,071,794 (GRCm39)		probably null	Het
Afdn	T	C	17: 14,043,706 (GRCm39)	V388A	probably damaging	Het
Alg3	A	G	16: 20,427,599 (GRCm39)	Y113H	possibly damaging	Het
Aox1	C	T	1: 58,371,796 (GRCm39)	P820L	probably benign	Het
Avil	A	G	10: 126,852,873 (GRCm39)	D731G	probably benign	Het
Blvra	C	T	2: 126,927,890 (GRCm39)	L47F	probably damaging	Het
Bmerb1	T	A	16: 13,867,259 (GRCm39)	I39N	probably damaging	Het
Ccdc85c	C	A	12: 108,240,917 (GRCm39)	R159L	unknown	Het
Clcn2	T	C	16: 20,525,979 (GRCm39)	D797G	probably benign	Het
Cmklr1	G	C	5: 113,752,043 (GRCm39)	H319Q	probably benign	Het
Dclre1a	A	T	19: 56,532,738 (GRCm39)	F619I	possibly damaging	Het
Dnajb1	C	A	8: 84,335,119 (GRCm39)	D53E	probably benign	Het
Dnmt1	T	C	9: 20,852,839 (GRCm39)	D89G	probably damaging	Het
Gck	A	G	11: 5,856,516 (GRCm39)	Y214H	probably damaging	Het
Gm9507	A	G	10: 77,647,650 (GRCm39)	S10P	unknown	Het
Hacd2	G	A	16: 34,920,156 (GRCm39)	V138I	probably benign	Het
Hhip	A	T	8: 80,770,591 (GRCm39)	V272D	probably damaging	Het
Hoga1	A	C	19: 42,048,347 (GRCm39)	T72P	possibly damaging	Het
Idh2	TCCCAGG	T	7: 79,748,079 (GRCm39)		probably benign	Het
Kif21b	G	A	1: 136,078,893 (GRCm39)	G414S	probably damaging	Het
Klk1b5	T	A	7: 43,500,205 (GRCm39)	D264E	probably benign	Het
Lars1	G	A	18: 42,376,942 (GRCm39)	R205C	probably damaging	Het
Ly6a	A	T	15: 74,869,419 (GRCm39)	L12Q	probably null	Het
Mastl	A	G	2: 23,008,449 (GRCm39)	*866Q	probably null	Het
Mpzl3	T	A	9: 44,981,983 (GRCm39)	M217K	possibly damaging	Het
Mroh2b	T	A	15: 4,929,935 (GRCm39)	M7K	probably benign	Het
Mtarc2	T	A	1: 184,554,687 (GRCm39)	R273W	probably null	Het
Nefh	A	G	11: 4,890,925 (GRCm39)	S565P	probably damaging	Het
Nox4	G	A	7: 87,025,448 (GRCm39)	R525Q	probably benign	Het
Nsd1	C	T	13: 55,461,359 (GRCm39)	L2632F		Het
Or10d1	T	A	9: 39,483,805 (GRCm39)	Y250F	probably benign	Het
Or1a1b	C	T	11: 74,097,322 (GRCm39)	C240Y	probably damaging	Het
Or4a71	A	T	2: 89,358,721 (GRCm39)	I11N	possibly damaging	Het
Or51ac3	A	T	7: 103,213,680 (GRCm39)	F269I	possibly damaging	Het
Or51r1	T	C	7: 102,228,137 (GRCm39)	V145A	probably benign	Het
Or5m10b	A	G	2: 85,694,523 (GRCm39)		probably benign	Het
Or5w18	T	C	2: 87,632,924 (GRCm39)	Y60H	probably damaging	Het
Pcdhga6	T	C	18: 37,841,393 (GRCm39)	V371A	possibly damaging	Het
Pdss2	A	G	10: 43,269,945 (GRCm39)	K263E	possibly damaging	Het
Phf3	C	T	1: 30,843,026 (GRCm39)	A1978T	possibly damaging	Het
Phykpl	C	A	11: 51,483,741 (GRCm39)	T207K	probably benign	Het
Pkd2	T	A	5: 104,628,230 (GRCm39)	C435S	probably damaging	Het
Pramel11	T	A	4: 143,623,646 (GRCm39)	N176I	probably benign	Het
Pramel52-ps	G	A	5: 94,531,899 (GRCm39)	C261Y	probably damaging	Het
Prkra	T	A	2: 76,478,184 (GRCm39)	H6L	probably benign	Het
Prpf40a	A	G	2: 53,035,255 (GRCm39)	V762A	probably benign	Het
Prr27	C	T	5: 87,991,330 (GRCm39)	T314I	probably damaging	Het
Ptges3	A	G	10: 127,907,998 (GRCm39)	D116G	possibly damaging	Het
Rab11fip5	G	T	6: 85,317,675 (GRCm39)	F1071L	probably benign	Het
Rsf1	GCG	GCGACGGCGCCG	7: 97,229,114 (GRCm39)		probably benign	Het
Slc45a3	T	C	1: 131,905,175 (GRCm39)	V66A	possibly damaging	Het
Spata31e5	T	A	1: 28,815,740 (GRCm39)	D764V	probably benign	Het
Ten1	A	G	11: 116,096,562 (GRCm39)	Y72C	probably damaging	Het
Tenm3	A	G	8: 48,745,186 (GRCm39)	L1125S	probably damaging	Het
Thpo	T	A	16: 20,544,557 (GRCm39)	I159F	possibly damaging	Het
Tmppe	T	C	9: 114,234,309 (GRCm39)	S203P	probably damaging	Het
Ttc23l	A	T	15: 10,537,661 (GRCm39)	I203N	probably benign	Het
Vars2	A	G	17: 35,969,980 (GRCm39)	L803P	possibly damaging	Het
Vmn2r110	T	A	17: 20,794,471 (GRCm39)	I733F		Het
Xxylt1	T	C	16: 30,899,745 (GRCm39)	N137D	possibly damaging	Het
Zc3h13	G	A	14: 75,561,042 (GRCm39)	R544Q	unknown	Het
Zfhx4	C	T	3: 5,477,198 (GRCm39)	T3271I	probably benign	Het
Zfp943	T	A	17: 22,212,392 (GRCm39)	C493S	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
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
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'- TTGATCCTCAGCTCCAGGGAAG -3'
(R):5'- TAGCTACAAATGCCACAAGAGTG -3'

Sequencing Primer
(F):5'- AAGGGCAGGTTACTGTGC -3'
(R):5'- GAGTGACAAATGCAAATAAAATACCC -3'

Posted On

2021-12-30