Incidental Mutation 'IGL01110:Ppil6'
ID |
52109 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ppil6
|
Ensembl Gene |
ENSMUSG00000078451 |
Gene Name |
peptidylprolyl isomerase (cyclophilin)-like 6 |
Synonyms |
2900084F20Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.120)
|
Stock # |
IGL01110
|
Quality Score |
|
Status
|
|
Chromosome |
10 |
Chromosomal Location |
41366435-41390282 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 41374406 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Isoleucine
at position 96
(V96I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000101146
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105507]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000105507
AA Change: V96I
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000101146 Gene: ENSMUSG00000078451 AA Change: V96I
Domain | Start | End | E-Value | Type |
low complexity region
|
20 |
33 |
N/A |
INTRINSIC |
Pfam:Pro_isomerase
|
147 |
310 |
1.3e-41 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000214145
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000215608
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 23 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Bbs1 |
G |
A |
19: 4,942,953 (GRCm39) |
S479L |
possibly damaging |
Het |
Capn6 |
G |
T |
X: 142,590,246 (GRCm39) |
P385H |
probably damaging |
Het |
Cavin1 |
C |
A |
11: 100,861,300 (GRCm39) |
|
probably benign |
Het |
Cdh9 |
A |
G |
15: 16,856,012 (GRCm39) |
D684G |
possibly damaging |
Het |
Dlgap5 |
A |
G |
14: 47,631,783 (GRCm39) |
|
probably benign |
Het |
Doc2g |
A |
G |
19: 4,056,577 (GRCm39) |
E321G |
probably damaging |
Het |
Eef1akmt1 |
A |
C |
14: 57,787,247 (GRCm39) |
F210V |
probably damaging |
Het |
Eya1 |
A |
G |
1: 14,353,354 (GRCm39) |
S65P |
probably damaging |
Het |
Gpx8 |
C |
T |
13: 113,182,218 (GRCm39) |
V72I |
probably benign |
Het |
Gria1 |
A |
G |
11: 57,180,207 (GRCm39) |
E650G |
probably damaging |
Het |
Hic1 |
A |
T |
11: 75,056,345 (GRCm39) |
L848Q |
possibly damaging |
Het |
Mmp1b |
C |
T |
9: 7,384,921 (GRCm39) |
D243N |
probably benign |
Het |
Mov10l1 |
G |
T |
15: 88,905,460 (GRCm39) |
V872L |
probably benign |
Het |
Or8g50 |
T |
C |
9: 39,648,693 (GRCm39) |
V194A |
probably benign |
Het |
Or8h9 |
C |
T |
2: 86,789,265 (GRCm39) |
C179Y |
possibly damaging |
Het |
Otof |
A |
G |
5: 30,619,069 (GRCm39) |
F25S |
probably damaging |
Het |
Patj |
A |
C |
4: 98,301,261 (GRCm39) |
N182T |
probably damaging |
Het |
Pik3r6 |
G |
A |
11: 68,419,652 (GRCm39) |
|
probably null |
Het |
Sardh |
T |
A |
2: 27,105,125 (GRCm39) |
Q666L |
probably benign |
Het |
Tasp1 |
A |
G |
2: 139,819,538 (GRCm39) |
S222P |
probably damaging |
Het |
Tln2 |
G |
T |
9: 67,157,864 (GRCm39) |
C1158* |
probably null |
Het |
Zfp707 |
T |
A |
15: 75,847,044 (GRCm39) |
C292S |
probably damaging |
Het |
Zfp956 |
A |
G |
6: 47,940,346 (GRCm39) |
E235G |
probably benign |
Het |
|
Other mutations in Ppil6 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01453:Ppil6
|
APN |
10 |
41,374,473 (GRCm39) |
missense |
probably benign |
|
IGL02964:Ppil6
|
APN |
10 |
41,383,479 (GRCm39) |
missense |
probably benign |
0.13 |
R0827:Ppil6
|
UTSW |
10 |
41,370,500 (GRCm39) |
unclassified |
probably benign |
|
R1661:Ppil6
|
UTSW |
10 |
41,390,176 (GRCm39) |
missense |
probably benign |
0.03 |
R2302:Ppil6
|
UTSW |
10 |
41,377,795 (GRCm39) |
missense |
probably damaging |
1.00 |
R2844:Ppil6
|
UTSW |
10 |
41,377,689 (GRCm39) |
splice site |
probably benign |
|
R4258:Ppil6
|
UTSW |
10 |
41,383,531 (GRCm39) |
nonsense |
probably null |
|
R5098:Ppil6
|
UTSW |
10 |
41,366,616 (GRCm39) |
missense |
probably null |
1.00 |
R5455:Ppil6
|
UTSW |
10 |
41,374,541 (GRCm39) |
missense |
probably benign |
0.15 |
R5530:Ppil6
|
UTSW |
10 |
41,383,494 (GRCm39) |
missense |
probably damaging |
1.00 |
R6683:Ppil6
|
UTSW |
10 |
41,374,427 (GRCm39) |
missense |
probably benign |
|
R7288:Ppil6
|
UTSW |
10 |
41,374,524 (GRCm39) |
missense |
probably benign |
0.03 |
R7843:Ppil6
|
UTSW |
10 |
41,377,862 (GRCm39) |
missense |
probably benign |
|
R9424:Ppil6
|
UTSW |
10 |
41,379,024 (GRCm39) |
missense |
probably damaging |
1.00 |
R9590:Ppil6
|
UTSW |
10 |
41,366,478 (GRCm39) |
start codon destroyed |
probably null |
0.95 |
R9630:Ppil6
|
UTSW |
10 |
41,370,550 (GRCm39) |
missense |
probably benign |
0.26 |
|
Posted On |
2013-06-21 |