Mutagenetix > Incidental Mutation

Incidental Mutation 'R8040:Pfdn6'

618493

Institutional Source

Beutler Lab

Gene Symbol

Pfdn6

Ensembl Gene

ENSMUSG00000024309

Gene Name

prefoldin subunit 6

Synonyms

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

MMRRC Submission

067477-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.962) question?

Stock #

R8040 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

34157883-34159317 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

T to C at 34158951 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000137072 (fasta)

Gene Model

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

AlphaFold

Q03958

Predicted Effect

probably benign
Transcript: ENSMUST00000025163

SMART Domains

Protein: ENSMUSP00000025163
Gene: ENSMUSG00000024309

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

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

SMART Domains

Protein: ENSMUSP00000138662
Gene: ENSMUSG00000024309

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

Predicted Effect

probably benign
Transcript: ENSMUST00000174048

SMART Domains

Protein: ENSMUSP00000133656
Gene: ENSMUSG00000024309

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

Predicted Effect

probably benign
Transcript: ENSMUST00000174426

SMART Domains

Protein: ENSMUSP00000134069
Gene: ENSMUSG00000024309

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

Predicted Effect

probably benign
Transcript: ENSMUST00000179418

SMART Domains

Protein: ENSMUSP00000137072
Gene: ENSMUSG00000024309

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (47/47)

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1a	A	T	5: 8,765,035 (GRCm39)	D675V	probably benign	Het
Adam21	T	C	12: 81,607,211 (GRCm39)	R184G	probably benign	Het
Adcy10	A	G	1: 165,379,593 (GRCm39)	K952E	probably damaging	Het
Allc	A	T	12: 28,605,351 (GRCm39)	I316N	probably damaging	Het
Ano8	T	C	8: 71,934,812 (GRCm39)	T432A	probably benign	Het
Cadps2	C	A	6: 23,412,942 (GRCm39)		probably benign	Het
Camsap2	T	C	1: 136,208,985 (GRCm39)	S168G		Het
Ccl19	T	C	4: 42,756,297 (GRCm39)	S12G	probably damaging	Het
Cfap91	A	G	16: 38,140,733 (GRCm39)	S407P	possibly damaging	Het
Cltc	A	G	11: 86,616,031 (GRCm39)	S412P	probably damaging	Het
Cwc25	A	G	11: 97,641,696 (GRCm39)		probably null	Het
Cxcr4	A	G	1: 128,517,535 (GRCm39)	F42S	probably damaging	Het
Cyp4a12a	A	G	4: 115,183,412 (GRCm39)	Q177R	probably benign	Het
Dnal4	T	C	15: 79,646,169 (GRCm39)	T112A	probably benign	Het
Dock9	C	A	14: 121,889,206 (GRCm39)	G304C	probably benign	Het
Evpl	T	C	11: 116,113,758 (GRCm39)	T1311A	probably damaging	Het
Fat4	T	C	3: 39,035,815 (GRCm39)	Y3156H	probably damaging	Het
Golgb1	A	G	16: 36,733,841 (GRCm39)	I1070M	possibly damaging	Het
Hcls1	A	G	16: 36,771,511 (GRCm39)	D139G	probably damaging	Het
Ighv1-7	A	G	12: 114,502,390 (GRCm39)	S26P	probably benign	Het
Il1r1	A	T	1: 40,352,509 (GRCm39)	T563S	probably benign	Het
Kcna1	C	T	6: 126,619,703 (GRCm39)	D206N	probably benign	Het
Kcnk4	A	G	19: 6,904,995 (GRCm39)	Y219H	probably damaging	Het
Kcnt2	G	A	1: 140,377,955 (GRCm39)	A403T	probably damaging	Het
Mdp1	T	A	14: 55,897,523 (GRCm39)	N44I	probably benign	Het
Nceh1	A	G	3: 27,295,374 (GRCm39)	N212D	probably benign	Het
Nynrin	G	A	14: 56,108,982 (GRCm39)	G1363D	probably benign	Het
Or5d20-ps1	T	A	2: 87,931,703 (GRCm39)	R209S	unknown	Het
Or6n1	T	C	1: 173,916,723 (GRCm39)	I39T	possibly damaging	Het
Or6x1	A	G	9: 40,098,717 (GRCm39)	H102R	probably damaging	Het
Or8d1	T	A	9: 38,766,460 (GRCm39)	I34N	probably damaging	Het
Parp2	T	A	14: 51,047,630 (GRCm39)	M47K	probably benign	Het
Plat	G	T	8: 23,262,248 (GRCm39)	G91W	probably damaging	Het
Plb1	T	A	5: 32,430,413 (GRCm39)	H123Q	possibly damaging	Het
Pml	C	A	9: 58,141,968 (GRCm39)	R288L	probably benign	Het
Prodh2	A	G	7: 30,205,836 (GRCm39)	D238G	probably damaging	Het
Rad51ap2	T	A	12: 11,508,792 (GRCm39)	S905T	probably benign	Het
Sclt1	C	T	3: 41,611,811 (GRCm39)	R487H	probably damaging	Het
Serpina3b	A	G	12: 104,097,335 (GRCm39)	I205M	probably benign	Het
Sowahb	A	G	5: 93,191,292 (GRCm39)	S476P	possibly damaging	Het
Srgap3	C	T	6: 112,716,325 (GRCm39)	R625H	probably benign	Het
Tent4a	A	G	13: 69,648,600 (GRCm39)	Y719H	probably damaging	Het
Tnxb	T	C	17: 34,935,532 (GRCm39)	Y2611H	probably damaging	Het
Uggt1	T	C	1: 36,250,554 (GRCm39)	E237G	possibly damaging	Het
Vmn1r87	T	A	7: 12,866,086 (GRCm39)	Y67F	possibly damaging	Het
Vmn2r107	G	A	17: 20,595,808 (GRCm39)	C787Y	probably damaging	Het
Zscan4-ps3	T	A	7: 11,346,600 (GRCm39)	I212N	probably damaging	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
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

Predicted Primers

PCR Primer
(F):5'- AGCTTCTGCCTCCCTGACATAG -3'
(R):5'- GGGTAGAAAGTGCTGTCCTTC -3'

Sequencing Primer
(F):5'- GACATAGATTTACTCAAGTCTGGGG -3'
(R):5'- CTGTCCTTCTGCAGGGTCAG -3'

Posted On

2020-01-23