Incidental Mutation 'IGL02736:Ppig'
| ID |
305667 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ppig
|
| Ensembl Gene |
ENSMUSG00000042133 |
| Gene Name |
peptidyl-prolyl isomerase G (cyclophilin G) |
| Synonyms |
SRCyp, B230312B02Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.816)
|
| Stock # |
IGL02736
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
69553152-69584356 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 69566438 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Methionine
at position 171
(I171M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000088370
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040915]
[ENSMUST00000090858]
[ENSMUST00000144652]
|
| AlphaFold |
A2AR02 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000040915
AA Change: I171M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000045945
Gene: ENSMUSG00000042133
AA Change: I171M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pro_isomerase
|
11 |
176 |
2.8e-50 |
PFAM |
|
low complexity region
|
180 |
258 |
N/A |
INTRINSIC |
|
low complexity region
|
272 |
280 |
N/A |
INTRINSIC |
|
low complexity region
|
295 |
307 |
N/A |
INTRINSIC |
|
low complexity region
|
334 |
354 |
N/A |
INTRINSIC |
|
low complexity region
|
417 |
433 |
N/A |
INTRINSIC |
|
low complexity region
|
441 |
478 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
483 |
518 |
1.1e-9 |
PROSPERO |
|
internal_repeat_2
|
485 |
555 |
1.1e-9 |
PROSPERO |
|
internal_repeat_3
|
506 |
556 |
4.26e-7 |
PROSPERO |
|
internal_repeat_1
|
521 |
556 |
1.1e-9 |
PROSPERO |
|
low complexity region
|
559 |
586 |
N/A |
INTRINSIC |
|
low complexity region
|
591 |
637 |
N/A |
INTRINSIC |
|
internal_repeat_3
|
646 |
693 |
4.26e-7 |
PROSPERO |
|
internal_repeat_4
|
653 |
686 |
6.68e-6 |
PROSPERO |
|
internal_repeat_2
|
661 |
735 |
1.1e-9 |
PROSPERO |
|
internal_repeat_4
|
711 |
744 |
6.68e-6 |
PROSPERO |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000090858
AA Change: I171M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000088370
Gene: ENSMUSG00000042133
AA Change: I171M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pro_isomerase
|
11 |
176 |
2.7e-49 |
PFAM |
|
low complexity region
|
180 |
258 |
N/A |
INTRINSIC |
|
low complexity region
|
272 |
280 |
N/A |
INTRINSIC |
|
low complexity region
|
295 |
307 |
N/A |
INTRINSIC |
|
low complexity region
|
334 |
354 |
N/A |
INTRINSIC |
|
low complexity region
|
417 |
433 |
N/A |
INTRINSIC |
|
low complexity region
|
441 |
478 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
483 |
518 |
1.1e-9 |
PROSPERO |
|
internal_repeat_2
|
485 |
555 |
1.1e-9 |
PROSPERO |
|
internal_repeat_3
|
506 |
556 |
4.26e-7 |
PROSPERO |
|
internal_repeat_1
|
521 |
556 |
1.1e-9 |
PROSPERO |
|
low complexity region
|
559 |
586 |
N/A |
INTRINSIC |
|
low complexity region
|
591 |
637 |
N/A |
INTRINSIC |
|
internal_repeat_3
|
646 |
693 |
4.26e-7 |
PROSPERO |
|
internal_repeat_4
|
653 |
686 |
6.68e-6 |
PROSPERO |
|
internal_repeat_2
|
661 |
735 |
1.1e-9 |
PROSPERO |
|
internal_repeat_4
|
711 |
744 |
6.68e-6 |
PROSPERO |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000120658
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124810
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125105
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128506
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134424
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142839
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134500
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146234
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000144652
|
| SMART Domains |
Protein: ENSMUSP00000114570
Gene: ENSMUSG00000042133
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pro_isomerase
|
11 |
127 |
8.4e-32 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A830018L16Rik |
G |
A |
1: 12,042,275 (GRCm39) |
A416T |
probably benign |
Het |
| Aadacl4fm1 |
G |
A |
4: 144,255,207 (GRCm39) |
R209K |
probably benign |
Het |
| Akap12 |
A |
G |
10: 4,305,637 (GRCm39) |
I816V |
probably benign |
Het |
| Antxrl |
A |
G |
14: 33,778,575 (GRCm39) |
|
probably benign |
Het |
| Atp1a3 |
G |
A |
7: 24,679,534 (GRCm39) |
T920I |
probably damaging |
Het |
| Cd22 |
C |
T |
7: 30,577,470 (GRCm39) |
|
probably null |
Het |
| Cntn3 |
T |
A |
6: 102,180,900 (GRCm39) |
N765I |
probably damaging |
Het |
| Cracdl |
T |
C |
1: 37,676,954 (GRCm39) |
E76G |
probably damaging |
Het |
| Crebbp |
G |
A |
16: 3,972,774 (GRCm39) |
P307S |
probably benign |
Het |
| Dapk2 |
T |
A |
9: 66,176,198 (GRCm39) |
M333K |
probably benign |
Het |
| Decr1 |
T |
A |
4: 15,930,952 (GRCm39) |
T127S |
probably benign |
Het |
| Dnmbp |
A |
T |
19: 43,838,209 (GRCm39) |
|
probably benign |
Het |
| Erbin |
A |
G |
13: 103,975,903 (GRCm39) |
S664P |
probably damaging |
Het |
| Hectd4 |
G |
T |
5: 121,480,782 (GRCm39) |
C2941F |
possibly damaging |
Het |
| Ighv1-4 |
A |
G |
12: 114,450,872 (GRCm39) |
Y79H |
probably benign |
Het |
| Matn3 |
T |
A |
12: 9,005,422 (GRCm39) |
D277E |
possibly damaging |
Het |
| Mgarp |
C |
A |
3: 51,303,866 (GRCm39) |
A36S |
possibly damaging |
Het |
| Mycbp2 |
A |
G |
14: 103,351,678 (GRCm39) |
|
probably benign |
Het |
| Nynrin |
G |
A |
14: 56,108,366 (GRCm39) |
A1158T |
probably damaging |
Het |
| Or4k5 |
G |
A |
14: 50,385,881 (GRCm39) |
A150V |
probably benign |
Het |
| Or6k14 |
T |
G |
1: 173,927,213 (GRCm39) |
I63S |
probably damaging |
Het |
| Pakap |
C |
A |
4: 57,709,721 (GRCm39) |
A222E |
probably damaging |
Het |
| Pkd1l2 |
T |
C |
8: 117,767,405 (GRCm39) |
D1295G |
probably benign |
Het |
| Ptprs |
A |
T |
17: 56,765,248 (GRCm39) |
V12E |
possibly damaging |
Het |
| Rnf123 |
G |
A |
9: 107,945,501 (GRCm39) |
R390* |
probably null |
Het |
| Rpgrip1l |
T |
A |
8: 91,990,219 (GRCm39) |
Q741L |
possibly damaging |
Het |
| Slco6d1 |
T |
C |
1: 98,356,036 (GRCm39) |
V157A |
possibly damaging |
Het |
| Sox6 |
A |
C |
7: 115,179,875 (GRCm39) |
D302E |
probably damaging |
Het |
| Spata3 |
T |
C |
1: 85,952,157 (GRCm39) |
V136A |
probably damaging |
Het |
| St6galnac6 |
G |
A |
2: 32,504,983 (GRCm39) |
R129H |
probably benign |
Het |
| Tmem184c |
A |
T |
8: 78,324,475 (GRCm39) |
D338E |
probably damaging |
Het |
| Tmem67 |
A |
G |
4: 12,045,789 (GRCm39) |
|
probably null |
Het |
| Ttn |
A |
T |
2: 76,708,614 (GRCm39) |
|
probably benign |
Het |
| Usp16 |
T |
C |
16: 87,261,723 (GRCm39) |
V113A |
possibly damaging |
Het |
| Utrn |
A |
G |
10: 12,297,384 (GRCm39) |
Y675H |
probably damaging |
Het |
| Zc3h4 |
T |
A |
7: 16,151,308 (GRCm39) |
Y117* |
probably null |
Het |
| Zc3h7b |
A |
T |
15: 81,676,175 (GRCm39) |
M694L |
probably benign |
Het |
| Zfp345 |
A |
T |
2: 150,316,474 (GRCm39) |
Y45N |
probably damaging |
Het |
|
| Other mutations in Ppig |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00543:Ppig
|
APN |
2 |
69,580,060 (GRCm39) |
missense |
unknown |
|
|
IGL00780:Ppig
|
APN |
2 |
69,563,268 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL02043:Ppig
|
APN |
2 |
69,566,327 (GRCm39) |
splice site |
probably null |
|
|
IGL02420:Ppig
|
APN |
2 |
69,562,571 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0358:Ppig
|
UTSW |
2 |
69,573,942 (GRCm39) |
splice site |
probably benign |
|
|
R0396:Ppig
|
UTSW |
2 |
69,566,320 (GRCm39) |
unclassified |
probably benign |
|
|
R1035:Ppig
|
UTSW |
2 |
69,579,803 (GRCm39) |
missense |
unknown |
|
|
R1159:Ppig
|
UTSW |
2 |
69,580,568 (GRCm39) |
missense |
unknown |
|
|
R1396:Ppig
|
UTSW |
2 |
69,579,362 (GRCm39) |
missense |
unknown |
|
|
R1593:Ppig
|
UTSW |
2 |
69,579,425 (GRCm39) |
missense |
unknown |
|
|
R1629:Ppig
|
UTSW |
2 |
69,566,217 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1799:Ppig
|
UTSW |
2 |
69,579,744 (GRCm39) |
missense |
unknown |
|
|
R2001:Ppig
|
UTSW |
2 |
69,571,988 (GRCm39) |
missense |
unknown |
|
|
R2112:Ppig
|
UTSW |
2 |
69,580,451 (GRCm39) |
missense |
unknown |
|
|
R3702:Ppig
|
UTSW |
2 |
69,563,553 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3855:Ppig
|
UTSW |
2 |
69,579,719 (GRCm39) |
missense |
unknown |
|
|
R4999:Ppig
|
UTSW |
2 |
69,571,830 (GRCm39) |
missense |
unknown |
|
|
R5001:Ppig
|
UTSW |
2 |
69,571,830 (GRCm39) |
missense |
unknown |
|
|
R5153:Ppig
|
UTSW |
2 |
69,579,994 (GRCm39) |
missense |
unknown |
|
|
R5218:Ppig
|
UTSW |
2 |
69,563,127 (GRCm39) |
intron |
probably benign |
|
|
R5336:Ppig
|
UTSW |
2 |
69,580,568 (GRCm39) |
missense |
unknown |
|
|
R5410:Ppig
|
UTSW |
2 |
69,566,241 (GRCm39) |
missense |
probably null |
1.00 |
|
R5443:Ppig
|
UTSW |
2 |
69,564,635 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5513:Ppig
|
UTSW |
2 |
69,580,703 (GRCm39) |
missense |
probably benign |
0.23 |
|
R6179:Ppig
|
UTSW |
2 |
69,580,471 (GRCm39) |
missense |
unknown |
|
|
R6333:Ppig
|
UTSW |
2 |
69,579,902 (GRCm39) |
missense |
unknown |
|
|
R6604:Ppig
|
UTSW |
2 |
69,571,925 (GRCm39) |
missense |
unknown |
|
|
R6932:Ppig
|
UTSW |
2 |
69,562,755 (GRCm39) |
missense |
probably benign |
0.40 |
|
R7206:Ppig
|
UTSW |
2 |
69,571,910 (GRCm39) |
missense |
unknown |
|
|
R7220:Ppig
|
UTSW |
2 |
69,580,320 (GRCm39) |
missense |
unknown |
|
|
R7308:Ppig
|
UTSW |
2 |
69,579,806 (GRCm39) |
missense |
unknown |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation