Incidental Mutation 'R8386:Pi16'
| ID |
647178 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pi16
|
| Ensembl Gene |
ENSMUSG00000024011 |
| Gene Name |
peptidase inhibitor 16 |
| Synonyms |
1200009H11Rik |
| MMRRC Submission |
067752-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.056)
|
| Stock # |
R8386 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
29537770-29547876 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 29538208 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Glutamine
at position 7
(P7Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110349
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000114699]
[ENSMUST00000114701]
|
| AlphaFold |
Q9ET66 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114699
AA Change: P7Q
PolyPhen 2
Score 0.337 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000110347
Gene: ENSMUSG00000024011
AA Change: P7Q
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
29 |
N/A |
INTRINSIC |
|
SCP
|
33 |
175 |
7.72e-52 |
SMART |
|
low complexity region
|
255 |
265 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000114701
AA Change: P7Q
PolyPhen 2
Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000110349
Gene: ENSMUSG00000024011
AA Change: P7Q
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
29 |
N/A |
INTRINSIC |
|
SCP
|
33 |
175 |
7.72e-52 |
SMART |
|
low complexity region
|
363 |
410 |
N/A |
INTRINSIC |
|
low complexity region
|
484 |
494 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155348
|
| SMART Domains |
Protein: ENSMUSP00000116183
Gene: ENSMUSG00000024011
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
SCP
|
27 |
169 |
7.72e-52 |
SMART |
|
low complexity region
|
216 |
226 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Homozygous mutant mice exhibited numerous immunological abnormalities during tissue-specific FACS analyses including an increased percentage of CD25+ cells in lymph node and B cell compartment differences in bone marrow spleen and lymph node. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca9 |
G |
T |
11: 110,021,518 (GRCm39) |
A1064D |
probably damaging |
Het |
| Adgb |
A |
G |
10: 10,226,048 (GRCm39) |
I1390T |
probably damaging |
Het |
| Aktip |
G |
A |
8: 91,857,674 (GRCm39) |
R13C |
probably benign |
Het |
| Arnt2 |
T |
A |
7: 83,996,747 (GRCm39) |
I71F |
probably damaging |
Het |
| Casr |
T |
A |
16: 36,335,950 (GRCm39) |
I120F |
probably damaging |
Het |
| Cilp |
G |
A |
9: 65,186,286 (GRCm39) |
G794S |
probably damaging |
Het |
| Cntnap1 |
A |
T |
11: 101,073,029 (GRCm39) |
R544S |
probably damaging |
Het |
| Cse1l |
T |
C |
2: 166,761,604 (GRCm39) |
S53P |
probably benign |
Het |
| Cyfip1 |
T |
C |
7: 55,527,488 (GRCm39) |
S207P |
probably damaging |
Het |
| Fam120b |
G |
A |
17: 15,643,246 (GRCm39) |
S675N |
probably benign |
Het |
| Fcna |
C |
T |
2: 25,516,027 (GRCm39) |
W163* |
probably null |
Het |
| Gast |
A |
G |
11: 100,227,691 (GRCm39) |
D91G |
probably damaging |
Het |
| Igkv6-14 |
T |
C |
6: 70,411,966 (GRCm39) |
Y106C |
probably damaging |
Het |
| Lin28b |
A |
G |
10: 45,345,140 (GRCm39) |
V62A |
probably damaging |
Het |
| Malrd1 |
T |
A |
2: 15,701,655 (GRCm39) |
S757T |
unknown |
Het |
| Ms4a15 |
A |
T |
19: 10,970,546 (GRCm39) |
C3S |
unknown |
Het |
| Muc5ac |
G |
A |
7: 141,361,371 (GRCm39) |
V1561I |
possibly damaging |
Het |
| Ndufb11b |
C |
T |
15: 81,864,830 (GRCm39) |
L24F |
probably damaging |
Het |
| Or4c11c |
G |
A |
2: 88,661,633 (GRCm39) |
M57I |
possibly damaging |
Het |
| Or5p70 |
TTTCTTCTTCT |
TTTCTTCT |
7: 107,994,555 (GRCm39) |
|
probably benign |
Het |
| Ppp1r3c |
T |
C |
19: 36,711,338 (GRCm39) |
D144G |
probably damaging |
Het |
| Setd1b |
T |
A |
5: 123,282,319 (GRCm39) |
V149D |
unknown |
Het |
| Shcbp1 |
A |
C |
8: 4,817,951 (GRCm39) |
W115G |
probably damaging |
Het |
| Shroom1 |
A |
T |
11: 53,357,230 (GRCm39) |
K631M |
probably damaging |
Het |
| Sipa1l2 |
A |
T |
8: 126,218,832 (GRCm39) |
S168R |
probably damaging |
Het |
| Slc12a4 |
A |
T |
8: 106,678,250 (GRCm39) |
N314K |
probably damaging |
Het |
| Syngap1 |
T |
A |
17: 27,179,465 (GRCm39) |
M755K |
possibly damaging |
Het |
| Tnik |
A |
G |
3: 28,317,823 (GRCm39) |
D11G |
unknown |
Het |
| Trim80 |
A |
G |
11: 115,335,900 (GRCm39) |
D274G |
probably damaging |
Het |
| Ush2a |
A |
G |
1: 188,460,403 (GRCm39) |
T2555A |
possibly damaging |
Het |
| Vps13a |
A |
T |
19: 16,678,483 (GRCm39) |
|
probably null |
Het |
| Wnt7a |
C |
T |
6: 91,343,270 (GRCm39) |
G204D |
probably damaging |
Het |
| Zfp420 |
A |
T |
7: 29,575,043 (GRCm39) |
Y421F |
probably benign |
Het |
| Zfp882 |
A |
G |
8: 72,667,962 (GRCm39) |
H263R |
probably benign |
Het |
|
| Other mutations in Pi16 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01725:Pi16
|
APN |
17 |
29,545,294 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02238:Pi16
|
APN |
17 |
29,545,269 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0276:Pi16
|
UTSW |
17 |
29,545,917 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0507:Pi16
|
UTSW |
17 |
29,546,826 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0570:Pi16
|
UTSW |
17 |
29,538,189 (GRCm39) |
start codon destroyed |
possibly damaging |
0.54 |
|
R1834:Pi16
|
UTSW |
17 |
29,546,419 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1845:Pi16
|
UTSW |
17 |
29,538,361 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5670:Pi16
|
UTSW |
17 |
29,545,870 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6223:Pi16
|
UTSW |
17 |
29,546,413 (GRCm39) |
nonsense |
probably null |
|
|
R7097:Pi16
|
UTSW |
17 |
29,545,313 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7122:Pi16
|
UTSW |
17 |
29,545,313 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7200:Pi16
|
UTSW |
17 |
29,538,208 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R7215:Pi16
|
UTSW |
17 |
29,538,072 (GRCm39) |
unclassified |
probably benign |
|
|
R7219:Pi16
|
UTSW |
17 |
29,538,208 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R7220:Pi16
|
UTSW |
17 |
29,538,208 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R7278:Pi16
|
UTSW |
17 |
29,538,208 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R7318:Pi16
|
UTSW |
17 |
29,538,208 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R7822:Pi16
|
UTSW |
17 |
29,538,208 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R8254:Pi16
|
UTSW |
17 |
29,538,208 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R8265:Pi16
|
UTSW |
17 |
29,545,947 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9368:Pi16
|
UTSW |
17 |
29,546,852 (GRCm39) |
missense |
probably benign |
0.15 |
|
R9420:Pi16
|
UTSW |
17 |
29,544,899 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9649:Pi16
|
UTSW |
17 |
29,538,363 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGATTCTGCTCTGGTCCAGAC -3'
(R):5'- AGTCTTGACAGAGCATCCCC -3'
Sequencing Primer
(F):5'- GGTCCAGACCCAAGGCAC -3'
(R):5'- TTCAGGCCCAGGAGGTG -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation