Mutagenetix > Incidental Mutation

Incidental Mutation 'R0017:Pfdn6'

19077

Institutional Source

Beutler Lab

Gene Symbol

Pfdn6

Ensembl Gene

ENSMUSG00000024309

Gene Name

prefoldin subunit 6

Synonyms

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

MMRRC Submission

038312-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.966) question?

Stock #

R0017 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

34157883-34159317 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 34158538 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 79 (R79G)

Ref Sequence

ENSEMBL: ENSMUSP00000137072 (fasta)

Gene Model

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

AlphaFold

Q03958

Predicted Effect

probably damaging
Transcript: ENSMUST00000025163
AA Change: R79G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000025163
Gene: ENSMUSG00000024309
AA Change: R79G

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 damaging
Transcript: ENSMUST00000173363
AA Change: R53G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000138662
Gene: ENSMUSG00000024309
AA Change: R53G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173678

Predicted Effect

probably damaging
Transcript: ENSMUST00000174048
AA Change: R79G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000133656
Gene: ENSMUSG00000024309
AA Change: R79G

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000179418
AA Change: R79G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000137072
Gene: ENSMUSG00000024309
AA Change: R79G

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000174426
AA Change: R53G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000134069
Gene: ENSMUSG00000024309
AA Change: R53G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173857

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174442

Meta Mutation Damage Score

0.9674

Coding Region Coverage

1x: 79.1%
3x: 69.1%
10x: 41.8%
20x: 21.2%

Validation Efficiency

93% (76/82)

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: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	G	T	17: 9,226,938 (GRCm39)		probably benign	Het
Adgrv1	T	C	13: 81,727,065 (GRCm39)	N429S	probably benign	Het
Cdca8	T	C	4: 124,814,168 (GRCm39)	T208A	probably benign	Het
Dcdc5	G	A	2: 106,187,541 (GRCm39)		noncoding transcript	Het
Fig4	A	G	10: 41,149,003 (GRCm39)	Y150H	possibly damaging	Het
Fsip2	G	A	2: 82,822,416 (GRCm39)	V6050M	probably damaging	Het
Gpld1	A	G	13: 25,174,101 (GRCm39)	D842G	probably damaging	Het
Hmgcr	A	G	13: 96,788,597 (GRCm39)		probably benign	Het
Ifit2	A	T	19: 34,550,973 (GRCm39)	N171I	probably damaging	Het
Ipo11	T	A	13: 107,023,238 (GRCm39)	I416L	probably benign	Het
Kcnab1	G	A	3: 65,264,527 (GRCm39)	V259M	probably damaging	Het
Kif5c	A	G	2: 49,622,725 (GRCm39)	T526A	probably benign	Het
Nucb2	A	G	7: 116,132,386 (GRCm39)	D331G	probably benign	Het
Pkd1	G	T	17: 24,797,513 (GRCm39)		probably null	Het
Ptpro	T	C	6: 137,393,825 (GRCm39)	V831A	probably benign	Het
Reg3b	T	A	6: 78,349,844 (GRCm39)	M128K	possibly damaging	Het
Rif1	A	G	2: 52,006,686 (GRCm39)	T2207A	probably benign	Het
Rpa1	A	C	11: 75,205,687 (GRCm39)	N223K	probably null	Het
Rras2	T	C	7: 113,647,490 (GRCm39)		probably benign	Het
Scyl3	T	A	1: 163,767,538 (GRCm39)	I204N	possibly damaging	Het
Slc45a1	C	A	4: 150,714,023 (GRCm39)	D741Y	possibly damaging	Het
Slco1a5	A	T	6: 142,182,061 (GRCm39)		probably benign	Het
Smg5	G	T	3: 88,258,412 (GRCm39)	R461L	probably damaging	Het
Sync	G	A	4: 129,187,537 (GRCm39)	V190M	probably damaging	Het
Tshr	A	T	12: 91,504,660 (GRCm39)	I533F	possibly damaging	Het
Tsn	T	C	1: 118,228,589 (GRCm39)	D211G	probably damaging	Het
Ttn	G	A	2: 76,621,988 (GRCm39)	T15518I	probably benign	Het
Vapb	A	G	2: 173,613,397 (GRCm39)	T99A	probably benign	Het
Zfp280d	A	T	9: 72,246,292 (GRCm39)		probably null	Het

Other mutations in Pfdn6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02605:Pfdn6	APN	17	34,158,077 (GRCm39)	missense	probably benign	0.02
R0017:Pfdn6	UTSW	17	34,158,538 (GRCm39)	missense	probably damaging	1.00
R1712:Pfdn6	UTSW	17	34,158,528 (GRCm39)	missense	probably damaging	1.00
R1978:Pfdn6	UTSW	17	34,158,051 (GRCm39)	missense	probably benign	0.01
R4655:Pfdn6	UTSW	17	34,159,014 (GRCm39)	nonsense	probably null
R6000:Pfdn6	UTSW	17	34,158,589 (GRCm39)	missense	probably damaging	1.00
R8040:Pfdn6	UTSW	17	34,158,951 (GRCm39)	intron	probably benign

Posted On

2013-03-25