Incidental Mutation 'IGL02605:Pfdn6'
ID |
300243 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Pfdn6
|
Ensembl Gene |
ENSMUSG00000024309 |
Gene Name |
prefoldin subunit 6 |
Synonyms |
H-2Ke2, H2-Ke2, Ke-2 |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.966)
|
Stock # |
IGL02605
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
34157883-34159317 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 34158077 bp (GRCm39)
|
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]
|
AlphaFold |
Q03958 |
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 |
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 |
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174442
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173857
|
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: 103,547,602 (GRCm39) |
Y992F |
probably benign |
Het |
Adgrg6 |
T |
A |
10: 14,342,976 (GRCm39) |
N324Y |
probably damaging |
Het |
Ampd3 |
T |
C |
7: 110,394,965 (GRCm39) |
F305L |
probably benign |
Het |
Ankrd35 |
A |
G |
3: 96,588,388 (GRCm39) |
|
probably null |
Het |
Api5 |
A |
G |
2: 94,260,064 (GRCm39) |
I64T |
possibly damaging |
Het |
Arhgap21 |
A |
G |
2: 20,860,399 (GRCm39) |
I1165T |
probably damaging |
Het |
Bdp1 |
T |
C |
13: 100,214,623 (GRCm39) |
|
probably null |
Het |
Capn3 |
T |
A |
2: 120,326,518 (GRCm39) |
I570N |
probably damaging |
Het |
Catsperg2 |
T |
C |
7: 29,418,990 (GRCm39) |
H232R |
possibly damaging |
Het |
Clcn7 |
T |
C |
17: 25,365,792 (GRCm39) |
L156P |
possibly damaging |
Het |
Cpa3 |
C |
A |
3: 20,276,376 (GRCm39) |
V286F |
probably benign |
Het |
Csrnp3 |
G |
A |
2: 65,853,153 (GRCm39) |
C527Y |
probably damaging |
Het |
Dock5 |
A |
T |
14: 68,065,887 (GRCm39) |
V372E |
probably benign |
Het |
Elmo1 |
T |
C |
13: 20,789,372 (GRCm39) |
L696P |
probably damaging |
Het |
Fam91a1 |
T |
C |
15: 58,303,045 (GRCm39) |
|
probably benign |
Het |
Gm12695 |
T |
A |
4: 96,650,988 (GRCm39) |
D155V |
probably null |
Het |
Hspa4l |
A |
G |
3: 40,736,055 (GRCm39) |
I559V |
probably benign |
Het |
Kdm1a |
G |
T |
4: 136,278,348 (GRCm39) |
|
probably benign |
Het |
Lrrc8d |
A |
T |
5: 105,974,683 (GRCm39) |
|
noncoding transcript |
Het |
Minpp1 |
A |
T |
19: 32,475,815 (GRCm39) |
Y316F |
possibly damaging |
Het |
Neto2 |
T |
C |
8: 86,390,064 (GRCm39) |
|
probably benign |
Het |
Nrxn2 |
T |
A |
19: 6,500,610 (GRCm39) |
D277E |
probably benign |
Het |
Ola1 |
A |
G |
2: 72,972,644 (GRCm39) |
|
probably benign |
Het |
Or4k48 |
A |
G |
2: 111,475,850 (GRCm39) |
V164A |
probably benign |
Het |
Or51r1 |
T |
C |
7: 102,228,602 (GRCm39) |
I300T |
probably damaging |
Het |
Or8c15 |
T |
A |
9: 38,120,532 (GRCm39) |
M61K |
probably damaging |
Het |
Pam |
A |
G |
1: 97,768,064 (GRCm39) |
V722A |
possibly damaging |
Het |
Pkhd1 |
T |
A |
1: 20,621,126 (GRCm39) |
H844L |
possibly damaging |
Het |
Plk5 |
G |
A |
10: 80,198,896 (GRCm39) |
V422M |
probably damaging |
Het |
Psmc1 |
G |
T |
12: 100,085,386 (GRCm39) |
R249L |
probably damaging |
Het |
Ptpro |
C |
T |
6: 137,357,316 (GRCm39) |
P269L |
probably benign |
Het |
Ralgapa1 |
G |
T |
12: 55,759,450 (GRCm39) |
H1480Q |
possibly damaging |
Het |
Rars1 |
G |
A |
11: 35,715,353 (GRCm39) |
|
probably benign |
Het |
Rbm48 |
G |
A |
5: 3,640,600 (GRCm39) |
R260C |
possibly damaging |
Het |
Smarcc1 |
C |
T |
9: 110,051,068 (GRCm39) |
H963Y |
possibly damaging |
Het |
Spef2 |
T |
C |
15: 9,725,238 (GRCm39) |
E230G |
probably damaging |
Het |
Spg11 |
A |
G |
2: 121,922,741 (GRCm39) |
S903P |
probably benign |
Het |
Tas2r122 |
T |
C |
6: 132,688,572 (GRCm39) |
Y107C |
probably damaging |
Het |
Tpm3 |
C |
A |
3: 89,995,753 (GRCm39) |
N204K |
probably benign |
Het |
Wdr36 |
T |
C |
18: 32,985,044 (GRCm39) |
I450T |
possibly damaging |
Het |
|
Other mutations in Pfdn6 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
R8040:Pfdn6
|
UTSW |
17 |
34,158,951 (GRCm39) |
intron |
probably benign |
|
|
Posted On |
2015-04-16 |