Mutagenetix > Incidental Mutation

Incidental Mutation 'R9372:Pfdn5'

709408

Institutional Source

Beutler Lab

Gene Symbol

Pfdn5

Ensembl Gene

ENSMUSG00000001289

Gene Name

prefoldin 5

Synonyms

D15Ertd697e, c-myc binding protein MM-1, 1700010A06Rik, MM-1, 1190001O17Rik, EIG-1

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9372 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

102234551-102239925 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 102235286 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000129178 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001331] [ENSMUST00000001335] [ENSMUST00000062492] [ENSMUST00000064924] [ENSMUST00000113682] [ENSMUST00000165671] [ENSMUST00000165717] [ENSMUST00000166658] [ENSMUST00000169637] [ENSMUST00000170627] [ENSMUST00000229050]

AlphaFold

Q9WU28

Predicted Effect

probably benign
Transcript: ENSMUST00000001331

SMART Domains

Protein: ENSMUSP00000001331
Gene: ENSMUSG00000001285

Domain	Start	End	E-Value	Type
Pfam:UPF0160	41	161	4.8e-54	PFAM
Pfam:UPF0160	158	312	1.3e-59	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000001335

SMART Domains

Protein: ENSMUSP00000001335
Gene: ENSMUSG00000001289

Domain	Start	End	E-Value	Type
SCOP:d1fxkc_	12	58	4e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000062492

SMART Domains

Protein: ENSMUSP00000126970
Gene: ENSMUSG00000001289

Domain	Start	End	E-Value	Type
Pfam:Prefoldin	1	75	2.2e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000064924

SMART Domains

Protein: ENSMUSP00000064465
Gene: ENSMUSG00000058290

Domain	Start	End	E-Value	Type
low complexity region	236	245	N/A	INTRINSIC
low complexity region	433	445	N/A	INTRINSIC
low complexity region	785	794	N/A	INTRINSIC
low complexity region	907	918	N/A	INTRINSIC
low complexity region	1312	1317	N/A	INTRINSIC
low complexity region	1565	1579	N/A	INTRINSIC
low complexity region	1625	1636	N/A	INTRINSIC
Pfam:Peptidase_C50	1716	2065	4.2e-93	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000113682

SMART Domains

Protein: ENSMUSP00000109312
Gene: ENSMUSG00000001285

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:UPF0160	45	365	1.5e-143	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000165671

SMART Domains

Protein: ENSMUSP00000128526
Gene: ENSMUSG00000001289

Domain	Start	End	E-Value	Type
Pfam:Prefoldin	1	75	2.2e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000165717

SMART Domains

Protein: ENSMUSP00000132441
Gene: ENSMUSG00000001289

Domain	Start	End	E-Value	Type
Pfam:Prefoldin	1	72	1.4e-20	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000166658

SMART Domains

Protein: ENSMUSP00000129178
Gene: ENSMUSG00000001289

Domain	Start	End	E-Value	Type
Pfam:Prefoldin	22	143	8.6e-32	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000169637

SMART Domains

Protein: ENSMUSP00000128263
Gene: ENSMUSG00000001289

Domain	Start	End	E-Value	Type
Pfam:Prefoldin	1	58	3.4e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000170627

SMART Domains

Protein: ENSMUSP00000131245
Gene: ENSMUSG00000001289

Domain	Start	End	E-Value	Type
Pfam:Prefoldin	7	99	4.6e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000171244

SMART Domains

Protein: ENSMUSP00000129494
Gene: ENSMUSG00000001285

Domain	Start	End	E-Value	Type
Pfam:UPF0160	41	209	1.7e-76	PFAM
Pfam:UPF0160	204	306	3.3e-43	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000229050

Predicted Effect

probably benign
Transcript: ENSMUST00000229942

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the prefoldin alpha subunit family. The encoded protein is one of six subunits of prefoldin, a molecular chaperone complex that binds and stabilizes newly synthesized polypeptides, thereby allowing them to fold correctly. The complex, consisting of two alpha and four beta subunits, forms a double beta barrel assembly with six protruding coiled-coils. The encoded protein may also repress the transcriptional activity of the proto-oncogene c-Myc. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for an ENU-induced mutation exhibit photoreceptor degeneration, central nervous system abnormalities, and male infertility. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2200002D01Rik	CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	7: 28,947,048 (GRCm39)		probably benign	Het
Aass	T	C	6: 23,078,856 (GRCm39)	T719A	probably damaging	Het
Abcb8	A	G	5: 24,605,114 (GRCm39)	E100G	probably benign	Het
Actr1b	C	T	1: 36,741,561 (GRCm39)	E104K	probably damaging	Het
Atad5	T	A	11: 79,985,094 (GRCm39)	S60R	possibly damaging	Het
Bcan	G	T	3: 87,895,610 (GRCm39)	A842D	probably benign	Het
Cacna2d2	G	A	9: 107,394,802 (GRCm39)	E623K	probably benign	Het
Cdk15	T	C	1: 59,370,142 (GRCm39)	Y393H	probably benign	Het
Ceacam12	C	T	7: 17,803,229 (GRCm39)	R212C	probably benign	Het
Ceacam5	T	C	7: 17,481,267 (GRCm39)	I338T	possibly damaging	Het
Crcp	A	G	5: 130,088,664 (GRCm39)	D139G	possibly damaging	Het
Crls1	T	A	2: 132,707,802 (GRCm39)	Y290*	probably null	Het
Dcun1d5	A	G	9: 7,206,780 (GRCm39)	N206D	probably damaging	Het
Dmtf1	A	T	5: 9,190,399 (GRCm39)	V105E	possibly damaging	Het
Dnah7a	T	C	1: 53,543,474 (GRCm39)	Y2232C	probably benign	Het
Dnajc25	T	A	4: 59,003,394 (GRCm39)	V55E	probably damaging	Het
Dpy19l4	T	C	4: 11,303,343 (GRCm39)	M193V	possibly damaging	Het
Dsc1	A	T	18: 20,221,489 (GRCm39)	V662E	probably damaging	Het
Enpp6	G	A	8: 47,506,627 (GRCm39)	V144I	possibly damaging	Het
Fip1l1	A	G	5: 74,707,463 (GRCm39)	T204A	possibly damaging	Het
Flvcr2	T	C	12: 85,793,795 (GRCm39)	V57A	probably benign	Het
Fsip2	T	G	2: 82,822,756 (GRCm39)	I6163S	possibly damaging	Het
Gipr	T	A	7: 18,896,863 (GRCm39)	M136L	probably benign	Het
Gm7298	A	G	6: 121,748,746 (GRCm39)	I674V	probably benign	Het
Gtf2a1	C	T	12: 91,534,592 (GRCm39)	V221I	probably damaging	Het
Haus3	A	T	5: 34,321,002 (GRCm39)	D481E	probably benign	Het
Hinfp	A	C	9: 44,209,083 (GRCm39)	V345G	probably damaging	Het
Hs3st5	A	T	10: 36,708,698 (GRCm39)	K78*	probably null	Het
Ighv1-31	T	C	12: 114,792,894 (GRCm39)	Y114C	probably damaging	Het
Ighv5-15	T	A	12: 113,790,357 (GRCm39)	T88S	probably damaging	Het
Ildr1	G	A	16: 36,542,721 (GRCm39)	D418N	probably damaging	Het
Ints10	C	T	8: 69,271,967 (GRCm39)	T556I	probably damaging	Het
Isoc1	G	T	18: 58,792,757 (GRCm39)	R65L	possibly damaging	Het
Itm2c	C	T	1: 85,833,055 (GRCm39)	R130C	probably damaging	Het
Jup	C	T	11: 100,270,391 (GRCm39)	C372Y	probably damaging	Het
Kif11	T	C	19: 37,399,892 (GRCm39)	V793A	probably benign	Het
Klrg1	A	C	6: 122,256,699 (GRCm39)	V29G	probably benign	Het
Lrch4	A	G	5: 137,631,953 (GRCm39)	T114A	possibly damaging	Het
Map3k3	C	T	11: 106,033,335 (GRCm39)	T196M	probably damaging	Het
Marchf1	C	A	8: 66,921,145 (GRCm39)	T274N	probably benign	Het
Nxpe5	A	T	5: 138,249,445 (GRCm39)	T412S	probably benign	Het
Or10q1	C	T	19: 13,727,069 (GRCm39)	H200Y	probably benign	Het
Pcnt	A	G	10: 76,258,960 (GRCm39)	W502R	probably damaging	Het
Pkn2	A	T	3: 142,535,018 (GRCm39)	V232E	probably damaging	Het
Ppfibp1	T	C	6: 146,898,307 (GRCm39)	S88P	probably damaging	Het
Prr23a4	A	G	9: 98,785,478 (GRCm39)	I48V	probably benign	Het
Ptprz1	G	A	6: 23,045,706 (GRCm39)	E2159K	probably damaging	Het
Smyd3	T	C	1: 178,871,470 (GRCm39)	E303G	possibly damaging	Het
Snx13	T	A	12: 35,151,048 (GRCm39)	N336K	possibly damaging	Het
Src	A	G	2: 157,311,808 (GRCm39)	E512G	possibly damaging	Het
Stard9	T	A	2: 120,495,420 (GRCm39)	C98*	probably null	Het
Tapbpl	A	G	6: 125,203,672 (GRCm39)	V336A	probably benign	Het
Tbrg1	G	A	9: 37,563,945 (GRCm39)	T230I	probably damaging	Het
Tm7sf3	C	T	6: 146,525,179 (GRCm39)	D89N	possibly damaging	Het
Tmem132c	G	A	5: 127,640,145 (GRCm39)	G772D	probably damaging	Het
Tmem219	C	T	7: 126,496,017 (GRCm39)	G119S	possibly damaging	Het
Ttbk2	T	A	2: 120,603,766 (GRCm39)	S325C	probably benign	Het
Ttc28	A	T	5: 111,331,073 (GRCm39)	Y431F	probably benign	Het
Vmn1r27	A	T	6: 58,192,746 (GRCm39)	M86K	possibly damaging	Het
Vmn2r15	G	A	5: 109,441,953 (GRCm39)	P160L	possibly damaging	Het
Zfc3h1	A	T	10: 115,221,223 (GRCm39)	S41C	unknown	Het
Zfp260	C	A	7: 29,804,232 (GRCm39)	T44K	probably benign	Het
Zfp7	TGCGGGAAAGGTTTCCACCTGAGCG	TGCG	15: 76,774,800 (GRCm39)		probably benign	Het
Zfp760	A	G	17: 21,941,035 (GRCm39)	N70S	probably benign	Het
Zfp788	T	A	7: 41,299,708 (GRCm39)	Y781*	probably null	Het
Zfp800	A	T	6: 28,256,433 (GRCm39)	S52T	possibly damaging	Het

Other mutations in Pfdn5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
PIT4520001:Pfdn5	UTSW	15	102,237,158 (GRCm39)	missense	probably benign	0.02
R1474:Pfdn5	UTSW	15	102,236,946 (GRCm39)	splice site	probably null
R2011:Pfdn5	UTSW	15	102,234,956 (GRCm39)	missense	possibly damaging	0.72
R2012:Pfdn5	UTSW	15	102,234,956 (GRCm39)	missense	possibly damaging	0.72
R4565:Pfdn5	UTSW	15	102,235,220 (GRCm39)	unclassified	probably benign
R4613:Pfdn5	UTSW	15	102,237,187 (GRCm39)	missense	probably benign	0.19
R7888:Pfdn5	UTSW	15	102,237,024 (GRCm39)	missense	probably damaging	1.00
R7936:Pfdn5	UTSW	15	102,236,978 (GRCm39)	missense	possibly damaging	0.93
R9292:Pfdn5	UTSW	15	102,234,883 (GRCm39)	missense	possibly damaging	0.93

Predicted Primers

PCR Primer
(F):5'- CGCATGTTGCCTACAGAAAAC -3'
(R):5'- CAAATGCCAGCTTTGTCTCC -3'

Sequencing Primer
(F):5'- CATGTTGCCTACAGAAAACTAAAATG -3'
(R):5'- AAATGCCAGCTTTGTCTCCATATTG -3'

Posted On

2022-04-18