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: 0.798)
|
| 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 |
Incidental Mutation