Incidental Mutation 'IGL01638:Ppil1'
ID |
93136 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ppil1
|
Ensembl Gene |
ENSMUSG00000024007 |
Gene Name |
peptidylprolyl isomerase (cyclophilin)-like 1 |
Synonyms |
Cypl1, 1110060O10Rik |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.799)
|
Stock # |
IGL01638
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
29469809-29482945 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 29480766 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Asparagine
at position 52
(K52N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000024802
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024802]
[ENSMUST00000135123]
|
AlphaFold |
Q9D0W5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000024802
AA Change: K52N
PolyPhen 2
Score 0.085 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000024802 Gene: ENSMUSG00000024007 AA Change: K52N
Domain | Start | End | E-Value | Type |
Pfam:Pro_isomerase
|
13 |
163 |
5.8e-53 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129157
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000135123
|
SMART Domains |
Protein: ENSMUSP00000115705 Gene: ENSMUSG00000024007
Domain | Start | End | E-Value | Type |
transmembrane domain
|
32 |
54 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136811
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the cyclophilin family of peptidylprolyl isomerases (PPIases). The cyclophilins are a highly conserved, ubiquitous family, members of which play an important role in protein folding, immunosuppression by cyclosporin A, and infection of HIV-1 virions. Based on similarity to other PPIases, this protein could accelerate the folding of proteins and might catalyze the cis-trans isomerization of proline imidic peptide bonds in oligopeptides. [provided by RefSeq, Jul 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts9 |
T |
C |
6: 92,849,409 (GRCm39) |
T436A |
probably benign |
Het |
Adgrb3 |
T |
A |
1: 25,598,832 (GRCm39) |
|
probably benign |
Het |
Ajap1 |
A |
G |
4: 153,516,693 (GRCm39) |
V216A |
possibly damaging |
Het |
Akap7 |
T |
A |
10: 25,143,323 (GRCm39) |
I124F |
probably damaging |
Het |
Arfgef2 |
G |
A |
2: 166,715,865 (GRCm39) |
V1385M |
probably damaging |
Het |
Arhgap30 |
A |
G |
1: 171,225,138 (GRCm39) |
K65E |
probably damaging |
Het |
Bltp1 |
A |
G |
3: 37,028,460 (GRCm39) |
N2377D |
probably damaging |
Het |
Cacna1a |
T |
C |
8: 85,298,456 (GRCm39) |
F1260S |
probably damaging |
Het |
Cad |
T |
A |
5: 31,224,958 (GRCm39) |
C954S |
probably damaging |
Het |
Fcmr |
A |
T |
1: 130,802,859 (GRCm39) |
E157D |
probably benign |
Het |
Gm4204 |
A |
T |
1: 135,160,873 (GRCm39) |
|
noncoding transcript |
Het |
Gzmn |
A |
T |
14: 56,406,476 (GRCm39) |
D16E |
probably benign |
Het |
Krt86 |
A |
C |
15: 101,373,353 (GRCm39) |
|
probably benign |
Het |
Macc1 |
T |
C |
12: 119,410,246 (GRCm39) |
L338P |
probably benign |
Het |
Ms4a6d |
A |
T |
19: 11,564,532 (GRCm39) |
L113Q |
probably damaging |
Het |
Myh15 |
T |
C |
16: 48,889,843 (GRCm39) |
S145P |
probably damaging |
Het |
Nav3 |
T |
C |
10: 109,688,724 (GRCm39) |
K518E |
probably damaging |
Het |
Or8d6 |
T |
C |
9: 39,853,816 (GRCm39) |
S87P |
probably benign |
Het |
Parp11 |
T |
A |
6: 127,468,492 (GRCm39) |
F181I |
probably benign |
Het |
Prl5a1 |
T |
A |
13: 28,329,422 (GRCm39) |
C34S |
possibly damaging |
Het |
Prss55 |
A |
G |
14: 64,314,636 (GRCm39) |
V178A |
probably benign |
Het |
S100a7a |
A |
G |
3: 90,562,837 (GRCm39) |
D8G |
probably benign |
Het |
Sh3glb2 |
A |
G |
2: 30,235,862 (GRCm39) |
V310A |
possibly damaging |
Het |
Slc22a7 |
T |
C |
17: 46,748,920 (GRCm39) |
|
probably null |
Het |
Slc27a6 |
A |
G |
18: 58,740,885 (GRCm39) |
D482G |
probably damaging |
Het |
Smarcc2 |
T |
A |
10: 128,323,943 (GRCm39) |
|
probably benign |
Het |
Specc1l |
T |
A |
10: 75,082,039 (GRCm39) |
Y478* |
probably null |
Het |
Spryd3 |
A |
G |
15: 102,038,711 (GRCm39) |
|
probably null |
Het |
Tcerg1l |
G |
A |
7: 137,881,805 (GRCm39) |
R295C |
probably damaging |
Het |
Trpv1 |
T |
C |
11: 73,144,155 (GRCm39) |
I637T |
probably damaging |
Het |
Ttc7 |
A |
C |
17: 87,666,540 (GRCm39) |
|
probably null |
Het |
Vmn1r6 |
C |
T |
6: 56,980,177 (GRCm39) |
Q280* |
probably null |
Het |
|
Other mutations in Ppil1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00507:Ppil1
|
APN |
17 |
29,470,675 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01305:Ppil1
|
APN |
17 |
29,482,862 (GRCm39) |
missense |
possibly damaging |
0.55 |
IGL01854:Ppil1
|
APN |
17 |
29,482,862 (GRCm39) |
missense |
possibly damaging |
0.55 |
IGL03367:Ppil1
|
APN |
17 |
29,471,218 (GRCm39) |
splice site |
probably benign |
|
ANU22:Ppil1
|
UTSW |
17 |
29,482,862 (GRCm39) |
missense |
possibly damaging |
0.55 |
R0068:Ppil1
|
UTSW |
17 |
29,471,230 (GRCm39) |
missense |
probably damaging |
0.98 |
R0068:Ppil1
|
UTSW |
17 |
29,471,230 (GRCm39) |
missense |
probably damaging |
0.98 |
R1716:Ppil1
|
UTSW |
17 |
29,480,809 (GRCm39) |
missense |
possibly damaging |
0.94 |
R6597:Ppil1
|
UTSW |
17 |
29,480,852 (GRCm39) |
missense |
probably benign |
0.01 |
R6598:Ppil1
|
UTSW |
17 |
29,480,852 (GRCm39) |
missense |
probably benign |
0.01 |
R7880:Ppil1
|
UTSW |
17 |
29,480,762 (GRCm39) |
missense |
probably damaging |
1.00 |
R8183:Ppil1
|
UTSW |
17 |
29,481,053 (GRCm39) |
splice site |
probably null |
|
R9607:Ppil1
|
UTSW |
17 |
29,470,481 (GRCm39) |
makesense |
probably null |
|
|
Posted On |
2013-12-09 |