Incidental Mutation 'IGL00780:Ppig'
| ID |
13111 |
| 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 # |
IGL00780
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
69553152-69584356 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 69563268 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 81
(E81D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000088370
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040915]
[ENSMUST00000090858]
[ENSMUST00000144652]
|
| AlphaFold |
A2AR02 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000040915
AA Change: E81D
PolyPhen 2
Score 0.887 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000045945
Gene: ENSMUSG00000042133
AA Change: E81D
| 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 |
possibly damaging
Transcript: ENSMUST00000090858
AA Change: E81D
PolyPhen 2
Score 0.887 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000088370
Gene: ENSMUSG00000042133
AA Change: E81D
| 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 |
probably benign
Transcript: ENSMUST00000144652
AA Change: E81D
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000114570
Gene: ENSMUSG00000042133
AA Change: E81D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pro_isomerase
|
11 |
127 |
8.4e-32 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146234
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142839
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134500
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abi3bp |
A |
G |
16: 56,423,168 (GRCm39) |
D440G |
probably null |
Het |
| Acvrl1 |
T |
A |
15: 101,035,248 (GRCm39) |
F258Y |
probably damaging |
Het |
| Ano1 |
A |
G |
7: 144,209,367 (GRCm39) |
S278P |
probably damaging |
Het |
| Aoc1l3 |
A |
G |
6: 48,964,673 (GRCm39) |
D227G |
probably damaging |
Het |
| AW146154 |
T |
C |
7: 41,129,883 (GRCm39) |
Y411C |
probably damaging |
Het |
| Blnk |
T |
A |
19: 40,922,890 (GRCm39) |
K412M |
probably benign |
Het |
| Clpb |
C |
T |
7: 101,427,815 (GRCm39) |
R387* |
probably null |
Het |
| Dach1 |
A |
T |
14: 98,138,858 (GRCm39) |
N528K |
possibly damaging |
Het |
| Dag1 |
A |
T |
9: 108,086,818 (GRCm39) |
W108R |
probably damaging |
Het |
| Elapor2 |
A |
G |
5: 9,472,367 (GRCm39) |
T355A |
probably damaging |
Het |
| Fbn2 |
T |
C |
18: 58,229,060 (GRCm39) |
T717A |
probably damaging |
Het |
| Fnbp1l |
T |
C |
3: 122,342,898 (GRCm39) |
D394G |
possibly damaging |
Het |
| Gaa |
T |
A |
11: 119,165,117 (GRCm39) |
|
probably null |
Het |
| Gpr158 |
A |
T |
2: 21,831,629 (GRCm39) |
K910* |
probably null |
Het |
| Grb14 |
G |
A |
2: 64,745,062 (GRCm39) |
P99S |
probably damaging |
Het |
| Gtf2h2 |
T |
C |
13: 100,615,729 (GRCm39) |
D264G |
probably benign |
Het |
| Heatr3 |
A |
G |
8: 88,897,568 (GRCm39) |
I667V |
probably benign |
Het |
| Hsp90ab1 |
T |
C |
17: 45,880,490 (GRCm39) |
N407S |
probably damaging |
Het |
| Htr2a |
A |
T |
14: 74,943,645 (GRCm39) |
L408F |
possibly damaging |
Het |
| Itgb5 |
G |
A |
16: 33,705,345 (GRCm39) |
V212I |
probably damaging |
Het |
| Kmt2c |
G |
A |
5: 25,516,049 (GRCm39) |
T2598I |
probably benign |
Het |
| Lcorl |
T |
C |
5: 45,904,637 (GRCm39) |
N137S |
probably damaging |
Het |
| Lef1 |
T |
C |
3: 130,986,779 (GRCm39) |
F212L |
possibly damaging |
Het |
| Map2k5 |
T |
C |
9: 63,188,359 (GRCm39) |
|
probably benign |
Het |
| Med15 |
G |
A |
16: 17,471,351 (GRCm39) |
T642I |
probably damaging |
Het |
| Nasp |
C |
A |
4: 116,461,196 (GRCm39) |
E274* |
probably null |
Het |
| Nup210l |
A |
T |
3: 90,098,156 (GRCm39) |
|
probably benign |
Het |
| Pgghg |
T |
C |
7: 140,525,264 (GRCm39) |
|
probably null |
Het |
| Plpp1 |
A |
G |
13: 112,988,040 (GRCm39) |
I54M |
probably damaging |
Het |
| Poldip3 |
C |
T |
15: 83,022,680 (GRCm39) |
G35R |
probably damaging |
Het |
| Ptpn21 |
G |
T |
12: 98,646,630 (GRCm39) |
T999K |
probably damaging |
Het |
| Rad9b |
T |
C |
5: 122,482,310 (GRCm39) |
I142V |
probably benign |
Het |
| Ralgps1 |
A |
T |
2: 33,163,639 (GRCm39) |
H139Q |
probably damaging |
Het |
| Rdh16f2 |
T |
C |
10: 127,710,961 (GRCm39) |
|
probably null |
Het |
| Sema3d |
G |
A |
5: 12,574,293 (GRCm39) |
R265Q |
probably damaging |
Het |
| Tdp1 |
T |
C |
12: 99,859,907 (GRCm39) |
V198A |
possibly damaging |
Het |
| Trim43c |
A |
T |
9: 88,723,909 (GRCm39) |
D145V |
probably benign |
Het |
| Trpc4 |
C |
T |
3: 54,209,596 (GRCm39) |
P654S |
probably damaging |
Het |
| Yy1 |
T |
G |
12: 108,781,463 (GRCm39) |
I376S |
probably damaging |
Het |
| Zfp773 |
T |
A |
7: 7,136,113 (GRCm39) |
Q161L |
probably benign |
Het |
|
| Other mutations in Ppig |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00543:Ppig
|
APN |
2 |
69,580,060 (GRCm39) |
missense |
unknown |
|
|
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 |
|
IGL02736:Ppig
|
APN |
2 |
69,566,438 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2012-12-06 |
Incidental Mutation