Incidental Mutation 'R2302:Ppil6'
ID |
244463 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ppil6
|
Ensembl Gene |
ENSMUSG00000078451 |
Gene Name |
peptidylprolyl isomerase (cyclophilin)-like 6 |
Synonyms |
2900084F20Rik |
MMRRC Submission |
040301-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.120)
|
Stock # |
R2302 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
41366435-41390282 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 41377795 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Serine
at position 169
(C169S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000101146
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105507]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000105507
AA Change: C169S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000101146 Gene: ENSMUSG00000078451 AA Change: C169S
Domain | Start | End | E-Value | Type |
low complexity region
|
20 |
33 |
N/A |
INTRINSIC |
Pfam:Pro_isomerase
|
147 |
310 |
1.3e-41 |
PFAM |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000214145
AA Change: C18S
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000215608
|
Meta Mutation Damage Score |
0.7945 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.4%
|
Validation Efficiency |
97% (30/31) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Agpat2 |
A |
T |
2: 26,494,207 (GRCm39) |
W6R |
possibly damaging |
Het |
Ahrr |
C |
A |
13: 74,425,780 (GRCm39) |
V72F |
probably damaging |
Het |
Ank1 |
G |
A |
8: 23,609,415 (GRCm39) |
C1369Y |
probably damaging |
Het |
Cdh3 |
C |
A |
8: 107,271,701 (GRCm39) |
P538Q |
probably damaging |
Het |
Cnn2 |
C |
G |
10: 79,827,233 (GRCm39) |
R35G |
possibly damaging |
Het |
Csmd3 |
C |
A |
15: 48,177,447 (GRCm39) |
A364S |
probably benign |
Het |
Dhcr7 |
A |
G |
7: 143,391,629 (GRCm39) |
T73A |
probably benign |
Het |
Gbp9 |
T |
C |
5: 105,241,958 (GRCm39) |
N200D |
possibly damaging |
Het |
Hyls1 |
T |
C |
9: 35,475,365 (GRCm39) |
E3G |
possibly damaging |
Het |
Ifngr1 |
T |
C |
10: 19,485,393 (GRCm39) |
L464P |
probably damaging |
Het |
Kdm1b |
TCATTGTCC |
TCATTGTCCATTGTCC |
13: 47,217,564 (GRCm39) |
|
probably null |
Het |
Krt1 |
C |
T |
15: 101,754,622 (GRCm39) |
G543S |
unknown |
Het |
Lhfpl2 |
T |
C |
13: 94,311,054 (GRCm39) |
V108A |
probably benign |
Het |
Lrrc7 |
C |
G |
3: 157,840,881 (GRCm39) |
G1386R |
probably damaging |
Het |
Mlc1 |
A |
G |
15: 88,849,640 (GRCm39) |
V231A |
possibly damaging |
Het |
Mup4 |
T |
A |
4: 59,960,702 (GRCm39) |
|
probably null |
Het |
Myh8 |
A |
T |
11: 67,177,065 (GRCm39) |
R406W |
probably damaging |
Het |
Poldip3 |
T |
C |
15: 83,013,469 (GRCm39) |
|
probably benign |
Het |
Pomt1 |
G |
A |
2: 32,133,671 (GRCm39) |
G216S |
probably benign |
Het |
Prokr2 |
A |
G |
2: 132,223,104 (GRCm39) |
I146T |
probably damaging |
Het |
Rab3b |
T |
C |
4: 108,786,640 (GRCm39) |
V130A |
probably damaging |
Het |
Reck |
T |
A |
4: 43,931,015 (GRCm39) |
I672N |
probably benign |
Het |
Scn1a |
T |
C |
2: 66,108,089 (GRCm39) |
T1546A |
probably damaging |
Het |
Sftpd |
T |
A |
14: 40,894,399 (GRCm39) |
E340V |
probably damaging |
Het |
Slco5a1 |
C |
T |
1: 12,949,486 (GRCm39) |
G635S |
probably damaging |
Het |
Slfn10-ps |
A |
T |
11: 82,919,756 (GRCm39) |
|
noncoding transcript |
Het |
Svopl |
A |
T |
6: 38,018,101 (GRCm39) |
|
probably benign |
Het |
Tbx5 |
A |
G |
5: 119,979,924 (GRCm39) |
K157E |
probably damaging |
Het |
Ttn |
A |
T |
2: 76,724,696 (GRCm39) |
C6333S |
probably benign |
Het |
Zfp609 |
T |
C |
9: 65,702,179 (GRCm39) |
K158E |
possibly damaging |
Het |
Zscan20 |
T |
C |
4: 128,482,057 (GRCm39) |
N535S |
probably damaging |
Het |
|
Other mutations in Ppil6 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01110:Ppil6
|
APN |
10 |
41,374,406 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01453:Ppil6
|
APN |
10 |
41,374,473 (GRCm39) |
missense |
probably benign |
|
IGL02964:Ppil6
|
APN |
10 |
41,383,479 (GRCm39) |
missense |
probably benign |
0.13 |
R0827:Ppil6
|
UTSW |
10 |
41,370,500 (GRCm39) |
unclassified |
probably benign |
|
R1661:Ppil6
|
UTSW |
10 |
41,390,176 (GRCm39) |
missense |
probably benign |
0.03 |
R2844:Ppil6
|
UTSW |
10 |
41,377,689 (GRCm39) |
splice site |
probably benign |
|
R4258:Ppil6
|
UTSW |
10 |
41,383,531 (GRCm39) |
nonsense |
probably null |
|
R5098:Ppil6
|
UTSW |
10 |
41,366,616 (GRCm39) |
missense |
probably null |
1.00 |
R5455:Ppil6
|
UTSW |
10 |
41,374,541 (GRCm39) |
missense |
probably benign |
0.15 |
R5530:Ppil6
|
UTSW |
10 |
41,383,494 (GRCm39) |
missense |
probably damaging |
1.00 |
R6683:Ppil6
|
UTSW |
10 |
41,374,427 (GRCm39) |
missense |
probably benign |
|
R7288:Ppil6
|
UTSW |
10 |
41,374,524 (GRCm39) |
missense |
probably benign |
0.03 |
R7843:Ppil6
|
UTSW |
10 |
41,377,862 (GRCm39) |
missense |
probably benign |
|
R9424:Ppil6
|
UTSW |
10 |
41,379,024 (GRCm39) |
missense |
probably damaging |
1.00 |
R9590:Ppil6
|
UTSW |
10 |
41,366,478 (GRCm39) |
start codon destroyed |
probably null |
0.95 |
R9630:Ppil6
|
UTSW |
10 |
41,370,550 (GRCm39) |
missense |
probably benign |
0.26 |
|
Predicted Primers |
PCR Primer
(F):5'- ACTTTCTTACACAACGTTGACCTG -3'
(R):5'- CGTGAAAGTCTGGGAACTTATTTAG -3'
Sequencing Primer
(F):5'- CTTTCTCCAATTGGAAGACT -3'
(R):5'- AGTTTTAGTTTTCAGCTCACCTCC -3'
|
Posted On |
2014-10-30 |