Mutagenetix > Incidental Mutation

Incidental Mutation 'R7240:Puf60'

574703

Institutional Source

Beutler Lab

Gene Symbol

Puf60

Ensembl Gene

ENSMUSG00000002524

Gene Name

poly-U binding splicing factor 60

Synonyms

2410104I19Rik, 2810454F19Rik

MMRRC Submission

045347-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.963) question?

Stock #

R7240 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

75942031-75952773 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to G at 75944388 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000105572 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002599] [ENSMUST00000002603] [ENSMUST00000063747] [ENSMUST00000100527] [ENSMUST00000109946] [ENSMUST00000227316] [ENSMUST00000230924]

AlphaFold

Q3UEB3

Predicted Effect

silent
Transcript: ENSMUST00000002599

SMART Domains

Protein: ENSMUSP00000002599
Gene: ENSMUSG00000002524

Domain	Start	End	E-Value	Type
low complexity region	21	34	N/A	INTRINSIC
low complexity region	103	114	N/A	INTRINSIC
RRM	118	191	1.21e-22	SMART
RRM	215	288	1.6e-22	SMART
low complexity region	290	338	N/A	INTRINSIC
low complexity region	400	420	N/A	INTRINSIC
RRM	451	533	7.68e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000002603

SMART Domains

Protein: ENSMUSP00000002603
Gene: ENSMUSG00000022568

Domain	Start	End	E-Value	Type
LRR	58	80	1.99e0	SMART
LRR	81	104	2.54e2	SMART
LRR	127	149	3.56e2	SMART
LRR	150	172	2.33e1	SMART
LRR	173	195	2.45e0	SMART
LRR_TYP	196	218	7.78e-3	SMART
LRR	219	241	7.79e0	SMART
LRR	242	265	1.41e0	SMART
LRR	288	310	2.47e2	SMART
LRR_TYP	311	334	2.36e-2	SMART
LRR	335	356	7.8e1	SMART
LRR	357	380	1.22e2	SMART
low complexity region	455	466	N/A	INTRINSIC
low complexity region	502	511	N/A	INTRINSIC
coiled coil region	653	685	N/A	INTRINSIC
PDZ	722	801	2e-23	SMART
low complexity region	822	837	N/A	INTRINSIC
PDZ	856	936	1.23e-23	SMART
low complexity region	941	965	N/A	INTRINSIC
low complexity region	968	978	N/A	INTRINSIC
PDZ	998	1079	6.7e-25	SMART
PDZ	1095	1178	3.88e-21	SMART
low complexity region	1306	1321	N/A	INTRINSIC
coiled coil region	1390	1420	N/A	INTRINSIC
low complexity region	1452	1464	N/A	INTRINSIC
low complexity region	1498	1515	N/A	INTRINSIC
low complexity region	1549	1560	N/A	INTRINSIC
low complexity region	1648	1665	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000063747

SMART Domains

Protein: ENSMUSP00000068056
Gene: ENSMUSG00000022568

Domain	Start	End	E-Value	Type
LRR	58	80	1.99e0	SMART
LRR	81	104	2.54e2	SMART
LRR	127	149	3.56e2	SMART
LRR	150	172	2.33e1	SMART
LRR	173	195	2.45e0	SMART
LRR_TYP	196	218	7.78e-3	SMART
LRR	219	241	7.79e0	SMART
LRR	242	265	1.41e0	SMART
LRR	288	310	2.47e2	SMART
LRR_TYP	311	334	2.36e-2	SMART
LRR	335	356	7.8e1	SMART
LRR	357	380	1.22e2	SMART
low complexity region	455	466	N/A	INTRINSIC
low complexity region	502	511	N/A	INTRINSIC
coiled coil region	653	685	N/A	INTRINSIC
PDZ	722	801	2e-23	SMART
low complexity region	822	837	N/A	INTRINSIC
PDZ	856	936	1.23e-23	SMART
low complexity region	941	965	N/A	INTRINSIC
low complexity region	968	978	N/A	INTRINSIC
PDZ	998	1079	6.7e-25	SMART
PDZ	1095	1178	3.88e-21	SMART
low complexity region	1282	1293	N/A	INTRINSIC
coiled coil region	1362	1392	N/A	INTRINSIC
low complexity region	1424	1436	N/A	INTRINSIC
low complexity region	1470	1487	N/A	INTRINSIC
low complexity region	1521	1532	N/A	INTRINSIC
low complexity region	1595	1612	N/A	INTRINSIC

Predicted Effect

silent
Transcript: ENSMUST00000100527

SMART Domains

Protein: ENSMUSP00000098096
Gene: ENSMUSG00000002524

Domain	Start	End	E-Value	Type
low complexity region	21	34	N/A	INTRINSIC
RRM	135	208	1.21e-22	SMART
RRM	232	305	1.6e-22	SMART
low complexity region	307	355	N/A	INTRINSIC
low complexity region	417	437	N/A	INTRINSIC
RRM	468	550	7.68e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000109946

SMART Domains

Protein: ENSMUSP00000105572
Gene: ENSMUSG00000022568

Domain	Start	End	E-Value	Type
LRR	58	80	1.99e0	SMART
LRR	81	104	2.54e2	SMART
LRR	127	149	3.56e2	SMART
LRR	150	172	2.33e1	SMART
LRR	173	195	2.45e0	SMART
LRR_TYP	196	218	7.78e-3	SMART
LRR	219	241	7.79e0	SMART
LRR	242	265	1.41e0	SMART
LRR	288	310	2.47e2	SMART
LRR_TYP	311	334	2.36e-2	SMART
LRR	335	356	7.8e1	SMART
LRR	357	380	1.22e2	SMART
low complexity region	455	466	N/A	INTRINSIC
low complexity region	502	511	N/A	INTRINSIC
coiled coil region	653	685	N/A	INTRINSIC
PDZ	722	801	2e-23	SMART
low complexity region	822	837	N/A	INTRINSIC
PDZ	856	936	1.23e-23	SMART
low complexity region	941	965	N/A	INTRINSIC
low complexity region	968	978	N/A	INTRINSIC
PDZ	998	1079	6.7e-25	SMART
PDZ	1095	1178	3.88e-21	SMART
low complexity region	1282	1293	N/A	INTRINSIC
coiled coil region	1362	1392	N/A	INTRINSIC
low complexity region	1424	1436	N/A	INTRINSIC
low complexity region	1470	1487	N/A	INTRINSIC
low complexity region	1521	1532	N/A	INTRINSIC
low complexity region	1620	1637	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000227316
AA Change: Y129H

Predicted Effect

unknown
Transcript: ENSMUST00000230924
AA Change: Y126H

Meta Mutation Damage Score

0.0846

Coding Region Coverage

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

Validation Efficiency

96% (50/52)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a nucleic acid-binding protein that plays a role in a variety of nuclear processes, including pre-mRNA splicing and transcriptional regulation. The encoded protein forms a complex with the far upstream DNA element (FUSE) and FUSE-binding protein at the myelocytomatosis oncogene (MYC) promoter. This complex represses MYC transcription through the core-TFIIH basal transcription factor. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2012]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210017I01Rik	A	G	3: 92,512,382 (GRCm39)	I59T	unknown	Het
Aspm	C	T	1: 139,406,389 (GRCm39)	Q1759*	probably null	Het
Atn1	A	T	6: 124,724,861 (GRCm39)	I124K	unknown	Het
Catsper2	TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT	TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT	2: 121,228,053 (GRCm39)		probably benign	Het
Ccdc88c	C	T	12: 100,911,198 (GRCm39)	V879M	probably benign	Het
Cd300c	A	G	11: 114,850,609 (GRCm39)	C65R	possibly damaging	Het
Cd69	A	T	6: 129,247,005 (GRCm39)	S112T	possibly damaging	Het
Cdh19	T	C	1: 110,821,137 (GRCm39)	T534A	probably benign	Het
Cdk5rap2	T	A	4: 70,210,145 (GRCm39)	D701V	probably damaging	Het
D130052B06Rik	A	G	11: 33,573,874 (GRCm39)	H157R	possibly damaging	Het
Dpf1	T	A	7: 29,011,052 (GRCm39)	F150L	probably benign	Het
Dsg1c	T	C	18: 20,416,166 (GRCm39)	L689P	probably damaging	Het
Dstyk	G	A	1: 132,381,861 (GRCm39)	M538I	probably benign	Het
E4f1	T	A	17: 24,663,299 (GRCm39)	I669F	probably damaging	Het
Gm7138	T	C	10: 77,612,589 (GRCm39)	T64A	unknown	Het
Gnai2	A	C	9: 107,492,972 (GRCm39)	D310E		Het
Iqca1	A	G	1: 89,998,272 (GRCm39)	V567A	possibly damaging	Het
Iqgap1	A	T	7: 80,409,587 (GRCm39)	N249K	probably benign	Het
Lamc1	A	G	1: 153,110,396 (GRCm39)	V1093A	possibly damaging	Het
Mfap3	A	G	11: 57,420,582 (GRCm39)	K188E	probably damaging	Het
N4bp2	T	A	5: 65,951,888 (GRCm39)	V431D	probably damaging	Het
Notch4	A	G	17: 34,795,445 (GRCm39)	T792A	probably benign	Het
Ntn4	A	G	10: 93,581,603 (GRCm39)	H592R	probably damaging	Het
Ofcc1	A	G	13: 40,362,317 (GRCm39)	C202R	probably benign	Het
Or10j2	T	C	1: 173,098,561 (GRCm39)	I273T	probably benign	Het
Or2a7	A	G	6: 43,151,435 (GRCm39)	K172E	probably benign	Het
Or5p55	T	C	7: 107,567,395 (GRCm39)	S264P	probably benign	Het
Or5p72	A	G	7: 108,022,140 (GRCm39)	M121V	probably damaging	Het
Or8b55	A	G	9: 38,727,009 (GRCm39)	D70G	probably benign	Het
Or8g24	A	T	9: 38,989,906 (GRCm39)	M45K	probably damaging	Het
Parpbp	G	A	10: 87,960,802 (GRCm39)	T228I	probably damaging	Het
Pcdhgb8	G	A	18: 37,896,756 (GRCm39)	V609M	probably damaging	Het
Pla2g4d	T	C	2: 120,100,830 (GRCm39)	N543S	probably damaging	Het
Rbm6	A	T	9: 107,730,095 (GRCm39)	D184E	probably damaging	Het
Rnase9	A	C	14: 51,276,436 (GRCm39)	S181A	probably benign	Het
Rnpc3	T	A	3: 113,410,480 (GRCm39)	R270S	probably damaging	Het
Rundc1	T	C	11: 101,322,374 (GRCm39)		probably null	Het
Ryr1	T	C	7: 28,751,440 (GRCm39)	S3715G	possibly damaging	Het
Scn3a	A	T	2: 65,299,386 (GRCm39)	D1373E	possibly damaging	Het
Serpina3k	T	G	12: 104,306,861 (GRCm39)	I31S	probably benign	Het
Sipa1l2	A	G	8: 126,196,599 (GRCm39)	F712L	probably damaging	Het
Slc22a29	A	G	19: 8,138,875 (GRCm39)	V529A	probably damaging	Het
Tdrd3	A	G	14: 87,696,239 (GRCm39)	N58S	probably benign	Het
Tmc2	C	T	2: 130,076,724 (GRCm39)	T350I	possibly damaging	Het
Tpst2	T	C	5: 112,455,544 (GRCm39)	C28R	probably benign	Het
Trbv21	A	T	6: 41,179,892 (GRCm39)	K69N	probably benign	Het
Trpm2	A	G	10: 77,771,710 (GRCm39)		probably null	Het
Ttn	A	G	2: 76,679,334 (GRCm39)	V10796A	unknown	Het
Ush2a	A	G	1: 188,643,858 (GRCm39)	T4407A	possibly damaging	Het
Vmn2r95	A	G	17: 18,672,225 (GRCm39)	H726R	probably benign	Het
Zfp777	A	G	6: 48,021,383 (GRCm39)	S80P	probably benign	Het

Other mutations in Puf60

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02406:Puf60	APN	15	75,946,458 (GRCm39)	missense	probably damaging	0.98
IGL02468:Puf60	APN	15	75,947,685 (GRCm39)	splice site	probably benign
IGL03252:Puf60	APN	15	75,943,699 (GRCm39)	missense	probably damaging	1.00
IGL03256:Puf60	APN	15	75,942,445 (GRCm39)	missense	possibly damaging	0.47
IGL03344:Puf60	APN	15	75,942,229 (GRCm39)	missense	possibly damaging	0.83
R0194:Puf60	UTSW	15	75,942,334 (GRCm39)	missense	probably damaging	1.00
R0688:Puf60	UTSW	15	75,942,623 (GRCm39)	missense	probably damaging	1.00
R1746:Puf60	UTSW	15	75,942,633 (GRCm39)	missense	probably benign	0.08
R1770:Puf60	UTSW	15	75,942,723 (GRCm39)	missense	probably benign	0.00
R1782:Puf60	UTSW	15	75,943,724 (GRCm39)	missense	probably benign	0.32
R1818:Puf60	UTSW	15	75,943,323 (GRCm39)	missense	possibly damaging	0.91
R2172:Puf60	UTSW	15	75,942,313 (GRCm39)	missense	probably damaging	1.00
R4726:Puf60	UTSW	15	75,944,183 (GRCm39)	splice site	probably null
R5049:Puf60	UTSW	15	75,942,323 (GRCm39)	missense	probably damaging	1.00
R6927:Puf60	UTSW	15	75,947,663 (GRCm39)	missense	probably benign
R7199:Puf60	UTSW	15	75,943,717 (GRCm39)	missense	probably damaging	0.99
R8784:Puf60	UTSW	15	75,949,525 (GRCm39)	missense	unknown
R9058:Puf60	UTSW	15	75,944,382 (GRCm39)	missense	probably benign	0.07
R9058:Puf60	UTSW	15	75,942,425 (GRCm39)	missense	probably benign	0.11

Predicted Primers

PCR Primer
(F):5'- GTACTCCACGAAGGCAAAGC -3'
(R):5'- TGGGTACTTCCATGTCCTGC -3'

Sequencing Primer
(F):5'- CTGAATACAGGAAGGTGTTAGAAGGC -3'
(R):5'- TAAACCCTGGCTGCAAGG -3'

Posted On

2019-10-07