Mutagenetix > Incidental Mutation

Incidental Mutation 'R9448:Prpf39'

714083

Institutional Source

Beutler Lab

Gene Symbol

Prpf39

Ensembl Gene

ENSMUSG00000035597

Gene Name

pre-mRNA processing factor 39

Synonyms

Srcs1

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.947) question?

Stock #

R9448 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

65083107-65110160 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 65108034 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 646 (Y646N)

Ref Sequence

ENSEMBL: ENSMUSP00000112953 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021332] [ENSMUST00000120580] [ENSMUST00000129956] [ENSMUST00000220730] [ENSMUST00000221166] [ENSMUST00000221913]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000021332

SMART Domains

Protein: ENSMUSP00000021332
Gene: ENSMUSG00000020949

Domain	Start	End	E-Value	Type
PDB:2KFV\|A	1	73	2e-45	PDB
low complexity region	91	100	N/A	INTRINSIC
Pfam:FKBP_C	121	221	3.9e-33	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000120580
AA Change: Y646N

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000112953
Gene: ENSMUSG00000035597
AA Change: Y646N

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

probably benign
Transcript: ENSMUST00000220730

Predicted Effect

probably benign
Transcript: ENSMUST00000220983

Predicted Effect

probably benign
Transcript: ENSMUST00000221166

Predicted Effect

probably benign
Transcript: ENSMUST00000221608

Predicted Effect

probably benign
Transcript: ENSMUST00000221913

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2200002D01Rik	CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	7: 28,947,048 (GRCm39)		probably benign	Het
Adcy1	T	C	11: 7,099,575 (GRCm39)	V685A	possibly damaging	Het
Atg9a	G	T	1: 75,162,849 (GRCm39)	T417K	probably benign	Het
Atp6v1a	T	A	16: 43,931,872 (GRCm39)	K139*	probably null	Het
Baz1b	T	C	5: 135,239,656 (GRCm39)	I252T	probably damaging	Het
Ccdc191	T	A	16: 43,759,338 (GRCm39)	W380R		Het
Cep290	T	G	10: 100,395,546 (GRCm39)	V2118G	probably benign	Het
Crb2	A	G	2: 37,677,773 (GRCm39)	D352G	probably benign	Het
Csmd3	T	C	15: 47,460,315 (GRCm39)	D2581G		Het
Diras2	T	A	13: 52,662,122 (GRCm39)	T62S	possibly damaging	Het
Dmrt1	T	C	19: 25,523,255 (GRCm39)	V202A	possibly damaging	Het
Dok1	T	C	6: 83,009,972 (GRCm39)	K46E	probably damaging	Het
Dph7	A	T	2: 24,861,952 (GRCm39)	K455M	probably damaging	Het
Efcab8	G	C	2: 153,646,861 (GRCm39)	V397L	unknown	Het
Ehbp1	T	C	11: 22,087,881 (GRCm39)	N426S	probably benign	Het
Exo5	A	G	4: 120,778,888 (GRCm39)	W326R	probably damaging	Het
Fam149a	T	A	8: 45,792,411 (GRCm39)		probably null	Het
Flii	T	C	11: 60,606,393 (GRCm39)	N1099S	probably benign	Het
Flvcr1	T	C	1: 190,744,406 (GRCm39)	T381A	possibly damaging	Het
Foxl1	T	C	8: 121,855,608 (GRCm39)	V303A	probably benign	Het
Fsd1l	G	T	4: 53,694,826 (GRCm39)	E427*	probably null	Het
Galnt18	A	T	7: 111,153,649 (GRCm39)	I325N	probably damaging	Het
Gm5478	T	C	15: 101,553,662 (GRCm39)	N274S	probably damaging	Het
Grm7	A	T	6: 111,335,193 (GRCm39)	T535S	probably benign	Het
Heatr5b	T	C	17: 79,068,015 (GRCm39)	D1791G	probably benign	Het
Igkv12-98	T	C	6: 68,548,156 (GRCm39)	I95T	probably damaging	Het
Il1rl2	A	G	1: 40,366,604 (GRCm39)	Y46C	probably benign	Het
Inhca	G	T	9: 103,149,781 (GRCm39)	Q259K	probably benign	Het
Kdr	T	C	5: 76,102,569 (GRCm39)	E1186G	probably benign	Het
Knstrn	T	C	2: 118,644,975 (GRCm39)		probably null	Het
Krt9	TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC	TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC	11: 100,079,903 (GRCm39)		probably benign	Het
Ltbp1	C	T	17: 75,666,455 (GRCm39)	Q1383*	probably null	Het
Mep1a	T	C	17: 43,805,869 (GRCm39)		probably null	Het
Mep1b	A	G	18: 21,217,199 (GRCm39)	D106G	probably damaging	Het
Moxd2	T	C	6: 40,864,160 (GRCm39)	N90S	probably benign	Het
Ms4a4c	T	A	19: 11,392,317 (GRCm39)		probably null	Het
Nlrp4e	A	T	7: 23,000,956 (GRCm39)	M84L	probably benign	Het
Noc2l	C	A	4: 156,320,781 (GRCm39)	R66S	probably benign	Het
Nox4	A	T	7: 87,045,001 (GRCm39)	L580F	unknown	Het
Numb	A	G	12: 83,888,990 (GRCm39)		probably null	Het
Or1l4	A	G	2: 37,091,221 (GRCm39)		probably benign	Het
Or5w13	A	T	2: 87,523,824 (GRCm39)	V134E	probably damaging	Het
Parp8	T	A	13: 117,039,360 (GRCm39)	K274*	probably null	Het
Pcdh1	G	A	18: 38,330,492 (GRCm39)	P976L	probably damaging	Het
Pcnt	T	C	10: 76,256,360 (GRCm39)	K627E	probably damaging	Het
Pdzk1	A	T	3: 96,761,922 (GRCm39)	D178V	probably damaging	Het
Phldb1	G	T	9: 44,622,546 (GRCm39)	L36M	possibly damaging	Het
Pip5k1c	A	G	10: 81,141,645 (GRCm39)	E111G	probably damaging	Het
Plcb4	G	A	2: 135,752,045 (GRCm39)	E84K	possibly damaging	Het
Psmc6	T	C	14: 45,568,483 (GRCm39)	F69L	probably benign	Het
Ptk2	T	A	15: 73,215,041 (GRCm39)	S46C	possibly damaging	Het
Ptpn6	G	A	6: 124,709,771 (GRCm39)	R23W	probably damaging	Het
Ptprb	T	A	10: 116,149,819 (GRCm39)	Y143*	probably null	Het
Qrich2	T	C	11: 116,338,091 (GRCm39)	E141G	probably benign	Het
Rsf1	G	GCCGGCGGCT	7: 97,229,116 (GRCm39)		probably benign	Het
Scn5a	A	G	9: 119,381,127 (GRCm39)	L136P	probably damaging	Het
Slc12a6	T	C	2: 112,179,704 (GRCm39)	F676S	probably damaging	Het
Spata31f1a	A	T	4: 42,850,250 (GRCm39)	Y635*	probably null	Het
Spata31f1e	T	C	4: 42,793,440 (GRCm39)	R231G	probably benign	Het
Spata32	C	T	11: 103,099,648 (GRCm39)	G286R	probably damaging	Het
Tbx19	T	C	1: 164,981,090 (GRCm39)	K135E	probably damaging	Het
Tdrd6	T	C	17: 43,936,567 (GRCm39)	T1494A	probably benign	Het
Tmem62	A	C	2: 120,808,211 (GRCm39)	D71A	probably damaging	Het
Tnfsf15	A	T	4: 63,663,305 (GRCm39)	V6D	possibly damaging	Het
Tulp4	T	C	17: 6,248,948 (GRCm39)	V182A	possibly damaging	Het
Vmn2r73	A	T	7: 85,522,027 (GRCm39)	V104D	probably benign	Het
Zdhhc8	C	A	16: 18,039,558 (GRCm39)	G159C		Het
Zfy2	A	G	Y: 2,109,904 (GRCm39)	W338R	probably damaging	Het
Znfx1	T	G	2: 166,888,844 (GRCm39)	Q788P	probably benign	Het
Zscan26	A	G	13: 21,632,431 (GRCm39)	V100A	probably benign	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
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

Predicted Primers

PCR Primer
(F):5'- AGTACCTTGCTGCCAAAAGATG -3'
(R):5'- ACTGTCCATAATTCCAAGGATTCTG -3'

Sequencing Primer
(F):5'- CCTTGCTGCCAAAAGATGATTGAC -3'
(R):5'- TTCCAAGGATTCTGATAATTGTACTG -3'

Posted On

2022-06-15