Mutagenetix > Incidental Mutation

Incidental Mutation 'R4565:Pfdn5'

343301

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

041790-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4565 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

102234551-102239925 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to C at 102235220 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

noncoding transcript
Transcript: ENSMUST00000168805

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000170281

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000170078

Predicted Effect

probably benign
Transcript: ENSMUST00000166658

SMART Domains

Protein: ENSMUSP00000129178
Gene: ENSMUSG00000001289

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231207

Predicted Effect

probably benign
Transcript: ENSMUST00000229942

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: ENSMUST00000170627

SMART Domains

Protein: ENSMUSP00000131245
Gene: ENSMUSG00000001289

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230222

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230617

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: ENSMUST00000229050

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.4%

Validation Efficiency

97% (37/38)

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: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930011G23Rik	T	C	5: 99,375,806 (GRCm39)		probably benign	Het
Acot11	C	T	4: 106,617,327 (GRCm39)	G240R	probably damaging	Het
Afg3l1	A	T	8: 124,228,608 (GRCm39)	K725*	probably null	Het
Alkbh1	T	C	12: 87,478,236 (GRCm39)	D225G	probably damaging	Het
Anxa2	A	T	9: 69,397,019 (GRCm39)	K241M	probably damaging	Het
Bptf	G	A	11: 106,963,836 (GRCm39)	T1786M	probably damaging	Het
Cnst	A	G	1: 179,432,114 (GRCm39)	E208G	probably damaging	Het
Dcdc2b	T	C	4: 129,504,778 (GRCm39)	T118A	probably benign	Het
Dhx35	C	A	2: 158,691,455 (GRCm39)	A646E	probably benign	Het
Dnah8	G	A	17: 30,967,542 (GRCm39)	D2585N	probably benign	Het
Dnhd1	T	A	7: 105,301,163 (GRCm39)	D173E	possibly damaging	Het
Dpy19l1	A	T	9: 24,343,684 (GRCm39)	L487Q	probably null	Het
Gtse1	T	G	15: 85,759,385 (GRCm39)	V631G	probably damaging	Het
Haspin	G	A	11: 73,028,445 (GRCm39)	L215F	probably benign	Het
Herc2	T	C	7: 55,803,586 (GRCm39)	V2207A	possibly damaging	Het
Jph1	A	G	1: 17,074,426 (GRCm39)	Y531H	possibly damaging	Het
Limk2	A	G	11: 3,298,634 (GRCm39)	I261T	probably damaging	Het
Oas3	A	G	5: 120,909,104 (GRCm39)	F281L	probably damaging	Het
Or2a25	A	T	6: 42,888,472 (GRCm39)	Q5L	probably benign	Het
Or7a40	C	A	16: 16,491,557 (GRCm39)	G96V	probably damaging	Het
Pcdhb17	A	G	18: 37,619,523 (GRCm39)	T438A	probably benign	Het
Rab11fip3	A	G	17: 26,287,680 (GRCm39)	C158R	possibly damaging	Het
Rbmxl1	G	A	8: 79,232,639 (GRCm39)	P235S	probably benign	Het
Slc9b1	G	T	3: 135,088,478 (GRCm39)	V280F	probably damaging	Het
Sp110	C	G	1: 85,516,839 (GRCm39)	E219D	probably damaging	Het
Trpm3	T	C	19: 22,965,233 (GRCm39)	I1576T	probably benign	Het
Trpm6	T	A	19: 18,803,236 (GRCm39)	V893D	probably damaging	Het
Ttc13	A	T	8: 125,408,826 (GRCm39)	N583K	probably damaging	Het
Zfp618	T	C	4: 63,039,588 (GRCm39)	C396R	probably 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
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
R9372:Pfdn5	UTSW	15	102,235,286 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- CAAGGACTGTCTGAACGTGC -3'
(R):5'- AGTGAGCTACGTTAAGTGTTCG -3'

Sequencing Primer
(F):5'- ACTGTCTGAACGTGCTGAAC -3'
(R):5'- AGCTACGTTAAGTGTTCGACTGTTC -3'

Posted On

2015-09-24