Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02605:Pfdn6'

300243

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pfdn6

Ensembl Gene

ENSMUSG00000024309

Gene Name

prefoldin subunit 6

Synonyms

H2-Ke2, Ke-2, H-2Ke2

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.965) question?

Stock #

IGL02605

Quality Score

Status

Chromosome

Chromosomal Location

33938821-33940343 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 33939103 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 90 (Y90C)

Ref Sequence

ENSEMBL: ENSMUSP00000137072 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025163] [ENSMUST00000025170] [ENSMUST00000047503] [ENSMUST00000173363] [ENSMUST00000174048] [ENSMUST00000174426] [ENSMUST00000179418]

Predicted Effect

probably benign
Transcript: ENSMUST00000025163
AA Change: Y90C

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000025163
Gene: ENSMUSG00000024309
AA Change: Y90C

Domain	Start	End	E-Value	Type
Pfam:Prefoldin_2	10	115	9.6e-29	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000025170

SMART Domains

Protein: ENSMUSP00000025170
Gene: ENSMUSG00000024312

Domain	Start	End	E-Value	Type
coiled coil region	126	155	N/A	INTRINSIC
low complexity region	204	217	N/A	INTRINSIC
WD40	225	262	1.02e2	SMART
WD40	267	302	3.3e1	SMART
Blast:WD40	305	344	8e-19	BLAST
WD40	347	386	9.52e-6	SMART
Blast:WD40	392	426	3e-14	BLAST
BING4CT	439	517	8.85e-53	SMART
low complexity region	542	556	N/A	INTRINSIC
low complexity region	586	593	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000047503

SMART Domains

Protein: ENSMUSP00000041082
Gene: ENSMUSG00000041354

Domain	Start	End	E-Value	Type
low complexity region	2	15	N/A	INTRINSIC
low complexity region	31	42	N/A	INTRINSIC
low complexity region	44	63	N/A	INTRINSIC
RasGEFN	87	212	9.54e-30	SMART
RasGEF	239	514	7.15e-106	SMART
low complexity region	578	592	N/A	INTRINSIC
low complexity region	602	619	N/A	INTRINSIC
low complexity region	633	648	N/A	INTRINSIC
RA	649	736	2.05e-19	SMART
low complexity region	737	762	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172546

Predicted Effect

probably benign
Transcript: ENSMUST00000173284

SMART Domains

Protein: ENSMUSP00000134312
Gene: ENSMUSG00000041354

Domain	Start	End	E-Value	Type
Blast:RasGEF	2	67	1e-35	BLAST
PDB:4JGW\|B	2	67	1e-35	PDB
SCOP:d1bkds_	2	94	3e-16	SMART
low complexity region	131	145	N/A	INTRINSIC
low complexity region	155	172	N/A	INTRINSIC
low complexity region	186	201	N/A	INTRINSIC
RA	202	289	2.05e-19	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000173363
AA Change: Y64C

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000138662
Gene: ENSMUSG00000024309
AA Change: Y64C

Domain	Start	End	E-Value	Type
Pfam:Prefoldin_2	1	89	1.1e-24	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173678

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173857

Predicted Effect

probably benign
Transcript: ENSMUST00000174048
AA Change: Y90C

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000133656
Gene: ENSMUSG00000024309
AA Change: Y90C

Domain	Start	End	E-Value	Type
Pfam:Prefoldin_2	10	115	2e-28	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000174426
AA Change: Y64C

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000134069
Gene: ENSMUSG00000024309
AA Change: Y64C

Domain	Start	End	E-Value	Type
Pfam:Prefoldin_2	1	89	1.1e-24	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174442

Predicted Effect

probably benign
Transcript: ENSMUST00000179418
AA Change: Y90C

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000137072
Gene: ENSMUSG00000024309
AA Change: Y90C

Domain	Start	End	E-Value	Type
Pfam:Prefoldin_2	10	115	2e-28	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] PFDN6 is a subunit of the heteromeric prefoldin complex that chaperones nascent actin (see MIM 102560) and alpha- and beta-tubulin (see MIM 602529 and MIM 191130, respectively) chains pending their transfer to the cytosolic chaperonin containing TCP1 (MIM 186980) (CCT) complex (Hansen et al., 1999 [PubMed 10209023]).[supplied by OMIM, Jul 2010]

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abtb2	A	T	2: 103,717,257	Y992F	probably benign	Het
Adgrg6	T	A	10: 14,467,232	N324Y	probably damaging	Het
Ampd3	T	C	7: 110,795,758	F305L	probably benign	Het
Ankrd35	A	G	3: 96,681,072		probably null	Het
Api5	A	G	2: 94,429,719	I64T	possibly damaging	Het
Arhgap21	A	G	2: 20,855,588	I1165T	probably damaging	Het
Bdp1	T	C	13: 100,078,115		probably null	Het
Capn3	T	A	2: 120,496,037	I570N	probably damaging	Het
Catsperg2	T	C	7: 29,719,565	H232R	possibly damaging	Het
Clcn7	T	C	17: 25,146,818	L156P	possibly damaging	Het
Cpa3	C	A	3: 20,222,212	V286F	probably benign	Het
Csrnp3	G	A	2: 66,022,809	C527Y	probably damaging	Het
Dock5	A	T	14: 67,828,438	V372E	probably benign	Het
Elmo1	T	C	13: 20,605,202	L696P	probably damaging	Het
Fam91a1	T	C	15: 58,431,196		probably benign	Het
Gm12695	T	A	4: 96,762,751	D155V	probably null	Het
Hspa4l	A	G	3: 40,781,623	I559V	probably benign	Het
Kdm1a	G	T	4: 136,551,037		probably benign	Het
Lrrc8d	A	T	5: 105,826,817		noncoding transcript	Het
Minpp1	A	T	19: 32,498,415	Y316F	possibly damaging	Het
Neto2	T	C	8: 85,663,435		probably benign	Het
Nrxn2	T	A	19: 6,450,580	D277E	probably benign	Het
Ola1	A	G	2: 73,142,300		probably benign	Het
Olfr1298	A	G	2: 111,645,505	V164A	probably benign	Het
Olfr550	T	C	7: 102,579,395	I300T	probably damaging	Het
Olfr893	T	A	9: 38,209,236	M61K	probably damaging	Het
Pam	A	G	1: 97,840,339	V722A	possibly damaging	Het
Pkhd1	T	A	1: 20,550,902	H844L	possibly damaging	Het
Plk5	G	A	10: 80,363,062	V422M	probably damaging	Het
Psmc1	G	T	12: 100,119,127	R249L	probably damaging	Het
Ptpro	C	T	6: 137,380,318	P269L	probably benign	Het
Ralgapa1	G	T	12: 55,712,665	H1480Q	possibly damaging	Het
Rars	G	A	11: 35,824,526		probably benign	Het
Rbm48	G	A	5: 3,590,600	R260C	possibly damaging	Het
Smarcc1	C	T	9: 110,222,000	H963Y	possibly damaging	Het
Spef2	T	C	15: 9,725,152	E230G	probably damaging	Het
Spg11	A	G	2: 122,092,260	S903P	probably benign	Het
Tas2r122	T	C	6: 132,711,609	Y107C	probably damaging	Het
Tpm3	C	A	3: 90,088,446	N204K	probably benign	Het
Wdr36	T	C	18: 32,851,991	I450T	possibly damaging	Het

Other mutations in Pfdn6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0017:Pfdn6	UTSW	17	33939564	missense	probably damaging	1.00
R0017:Pfdn6	UTSW	17	33939564	missense	probably damaging	1.00
R1712:Pfdn6	UTSW	17	33939554	missense	probably damaging	1.00
R1978:Pfdn6	UTSW	17	33939077	missense	probably benign	0.01
R4655:Pfdn6	UTSW	17	33940040	nonsense	probably null
R6000:Pfdn6	UTSW	17	33939615	missense	probably damaging	1.00
R8040:Pfdn6	UTSW	17	33939977	intron	probably benign

Posted On

2015-04-16