Incidental Mutation 'R1035:Ppig'
| ID |
95501 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ppig
|
| Ensembl Gene |
ENSMUSG00000042133 |
| Gene Name |
peptidyl-prolyl isomerase G (cyclophilin G) |
| Synonyms |
SRCyp, B230312B02Rik |
| MMRRC Submission |
039134-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.802)
|
| Stock # |
R1035 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
69553152-69584356 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 69579803 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 446
(Y446H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000088370
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040915]
[ENSMUST00000090858]
|
| AlphaFold |
A2AR02 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000040915
AA Change: Y446H
|
| SMART Domains |
Protein: ENSMUSP00000045945
Gene: ENSMUSG00000042133
AA Change: Y446H
| 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 |
unknown
Transcript: ENSMUST00000090858
AA Change: Y446H
|
| SMART Domains |
Protein: ENSMUSP00000088370
Gene: ENSMUSG00000042133
AA Change: Y446H
| 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: ENSMUST00000143954
|
| Meta Mutation Damage Score |
0.0671 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 94.9%
- 20x: 88.4%
|
| Validation Efficiency |
97% (36/37) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aasdh |
G |
A |
5: 77,024,130 (GRCm39) |
T174M |
probably damaging |
Het |
| Ap3b2 |
A |
T |
7: 81,113,659 (GRCm39) |
L850Q |
unknown |
Het |
| Asxl3 |
T |
C |
18: 22,658,106 (GRCm39) |
S2039P |
probably damaging |
Het |
| Cadm2 |
A |
T |
16: 66,612,235 (GRCm39) |
M109K |
probably damaging |
Het |
| Caskin1 |
A |
G |
17: 24,724,011 (GRCm39) |
N933S |
probably damaging |
Het |
| Cbln4 |
T |
C |
2: 171,883,989 (GRCm39) |
N77S |
possibly damaging |
Het |
| Chek1 |
A |
G |
9: 36,627,769 (GRCm39) |
I256T |
probably damaging |
Het |
| Col5a3 |
A |
T |
9: 20,704,795 (GRCm39) |
|
probably benign |
Het |
| Cyp2b10 |
C |
T |
7: 25,616,473 (GRCm39) |
S360L |
probably benign |
Het |
| Dctn1 |
T |
C |
6: 83,167,202 (GRCm39) |
S222P |
probably damaging |
Het |
| Dnah7b |
A |
G |
1: 46,163,608 (GRCm39) |
I471V |
probably benign |
Het |
| Ear2 |
A |
T |
14: 44,340,344 (GRCm39) |
M1L |
possibly damaging |
Het |
| Entpd6 |
T |
A |
2: 150,606,112 (GRCm39) |
|
probably benign |
Het |
| Extl1 |
TGCGTTGCACCGATACCGGG |
TG |
4: 134,084,988 (GRCm39) |
|
probably benign |
Het |
| Fam98b |
C |
T |
2: 117,101,120 (GRCm39) |
R311W |
possibly damaging |
Het |
| Ggt7 |
A |
T |
2: 155,348,347 (GRCm39) |
C102S |
probably damaging |
Het |
| Myo15a |
T |
C |
11: 60,401,384 (GRCm39) |
|
probably benign |
Het |
| Nlrp9c |
C |
T |
7: 26,070,702 (GRCm39) |
|
probably benign |
Het |
| Nrxn1 |
A |
T |
17: 90,471,302 (GRCm39) |
N1234K |
probably damaging |
Het |
| Or5ac19 |
C |
T |
16: 59,089,307 (GRCm39) |
C241Y |
probably damaging |
Het |
| Pcsk1 |
T |
C |
13: 75,280,238 (GRCm39) |
S688P |
probably benign |
Het |
| Polr1a |
T |
C |
6: 71,944,900 (GRCm39) |
F1319L |
probably benign |
Het |
| Spmap2 |
G |
A |
10: 79,419,684 (GRCm39) |
T182M |
probably damaging |
Het |
| Stk17b |
T |
C |
1: 53,801,758 (GRCm39) |
T88A |
probably benign |
Het |
| Tas2r143 |
A |
T |
6: 42,377,199 (GRCm39) |
I10F |
probably benign |
Het |
| Tmprss12 |
G |
A |
15: 100,183,081 (GRCm39) |
R141Q |
probably benign |
Het |
| Trpa1 |
A |
G |
1: 14,961,527 (GRCm39) |
|
probably null |
Het |
| Txndc16 |
A |
G |
14: 45,410,020 (GRCm39) |
S187P |
possibly damaging |
Het |
| Vmn2r98 |
T |
C |
17: 19,301,011 (GRCm39) |
I671T |
possibly damaging |
Het |
| Zfp78 |
G |
T |
7: 6,381,660 (GRCm39) |
V237F |
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 |
|
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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCCACATTGGAGACAAGAGATGCAGA -3'
(R):5'- AGATCCCGTTCTCTACTCCTGGACT -3'
Sequencing Primer
(F):5'- GCTTTTTTACTGCTGAGCACAATG -3'
(R):5'- TGATTCTACCTGTTTGGAGTTCTC -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation