Incidental Mutation 'IGL02871:Pga5'
| ID |
362586 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pga5
|
| Ensembl Gene |
ENSMUSG00000024738 |
| Gene Name |
pepsinogen 5, group I |
| Synonyms |
1110035E17Rik, Pepf, pepsinogen A5 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.065)
|
| Stock # |
IGL02871
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
10646321-10655435 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 10649144 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025647
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025647]
|
| AlphaFold |
Q9D106 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025647
|
| SMART Domains |
Protein: ENSMUSP00000025647
Gene: ENSMUSG00000024738
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:A1_Propeptide
|
16 |
44 |
1.1e-13 |
PFAM |
|
Pfam:Asp
|
73 |
386 |
1.1e-112 |
PFAM |
|
Pfam:TAXi_N
|
74 |
229 |
7.6e-12 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225016
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225135
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arl15 |
C |
A |
13: 114,291,374 (GRCm39) |
H179Q |
probably benign |
Het |
| Bin3 |
T |
A |
14: 70,366,354 (GRCm39) |
C72* |
probably null |
Het |
| Brca2 |
C |
T |
5: 150,466,017 (GRCm39) |
T1927I |
probably benign |
Het |
| Cap2 |
A |
G |
13: 46,678,968 (GRCm39) |
D26G |
probably benign |
Het |
| Casz1 |
T |
G |
4: 149,028,776 (GRCm39) |
S1074A |
possibly damaging |
Het |
| Chd5 |
C |
T |
4: 152,461,142 (GRCm39) |
P1244L |
probably damaging |
Het |
| Exosc9 |
A |
G |
3: 36,619,430 (GRCm39) |
N408S |
probably benign |
Het |
| Ezr |
G |
A |
17: 7,009,789 (GRCm39) |
Q352* |
probably null |
Het |
| Fbxl4 |
T |
A |
4: 22,386,213 (GRCm39) |
D273E |
probably benign |
Het |
| Gm3269 |
A |
T |
14: 16,028,154 (GRCm39) |
N193I |
probably damaging |
Het |
| Haus8 |
A |
T |
8: 71,709,138 (GRCm39) |
M90K |
probably benign |
Het |
| Igkv5-39 |
A |
T |
6: 69,877,490 (GRCm39) |
S89T |
probably benign |
Het |
| Nlrp4b |
A |
C |
7: 10,449,192 (GRCm39) |
D465A |
probably benign |
Het |
| Nsf |
A |
G |
11: 103,752,882 (GRCm39) |
|
probably benign |
Het |
| Nt5c1b |
G |
A |
12: 10,431,325 (GRCm39) |
M409I |
probably damaging |
Het |
| Or4a75 |
T |
C |
2: 89,448,504 (GRCm39) |
I11V |
probably benign |
Het |
| Or4c103 |
T |
A |
2: 88,513,428 (GRCm39) |
Y216F |
probably damaging |
Het |
| Or5ac17 |
T |
A |
16: 59,036,737 (GRCm39) |
K80* |
probably null |
Het |
| Pigk |
T |
A |
3: 152,472,153 (GRCm39) |
I355K |
probably damaging |
Het |
| Prom1 |
T |
C |
5: 44,187,018 (GRCm39) |
Y404C |
probably damaging |
Het |
| Ptprs |
T |
C |
17: 56,754,443 (GRCm39) |
E199G |
probably damaging |
Het |
| Sec24c |
T |
C |
14: 20,742,950 (GRCm39) |
S935P |
probably benign |
Het |
| Slc22a13 |
T |
C |
9: 119,025,077 (GRCm39) |
T200A |
probably benign |
Het |
| Svep1 |
T |
A |
4: 58,100,871 (GRCm39) |
I1264L |
probably benign |
Het |
| Tcf7l2 |
T |
A |
19: 55,907,429 (GRCm39) |
C349S |
probably damaging |
Het |
| Thbs2 |
T |
C |
17: 14,906,048 (GRCm39) |
H284R |
probably benign |
Het |
| Vmn2r19 |
C |
T |
6: 123,313,042 (GRCm39) |
S704L |
probably damaging |
Het |
| Vmn2r50 |
A |
G |
7: 9,781,714 (GRCm39) |
Y344H |
possibly damaging |
Het |
|
| Other mutations in Pga5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01660:Pga5
|
APN |
19 |
10,652,456 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02037:Pga5
|
APN |
19 |
10,654,065 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02069:Pga5
|
APN |
19 |
10,646,763 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
IGL02197:Pga5
|
APN |
19 |
10,649,277 (GRCm39) |
splice site |
probably benign |
|
|
R0238:Pga5
|
UTSW |
19 |
10,646,817 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0238:Pga5
|
UTSW |
19 |
10,646,817 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0239:Pga5
|
UTSW |
19 |
10,646,817 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0239:Pga5
|
UTSW |
19 |
10,646,817 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1573:Pga5
|
UTSW |
19 |
10,651,201 (GRCm39) |
missense |
probably benign |
0.13 |
|
R1941:Pga5
|
UTSW |
19 |
10,646,820 (GRCm39) |
splice site |
probably null |
|
|
R4354:Pga5
|
UTSW |
19 |
10,652,190 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4568:Pga5
|
UTSW |
19 |
10,649,216 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5119:Pga5
|
UTSW |
19 |
10,654,053 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5738:Pga5
|
UTSW |
19 |
10,647,024 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5864:Pga5
|
UTSW |
19 |
10,652,513 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6176:Pga5
|
UTSW |
19 |
10,649,149 (GRCm39) |
splice site |
probably null |
|
|
R6270:Pga5
|
UTSW |
19 |
10,652,225 (GRCm39) |
missense |
probably benign |
|
|
R6990:Pga5
|
UTSW |
19 |
10,646,779 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8056:Pga5
|
UTSW |
19 |
10,654,161 (GRCm39) |
splice site |
probably benign |
|
|
R8348:Pga5
|
UTSW |
19 |
10,649,173 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8448:Pga5
|
UTSW |
19 |
10,649,173 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8510:Pga5
|
UTSW |
19 |
10,655,308 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R9352:Pga5
|
UTSW |
19 |
10,646,897 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9382:Pga5
|
UTSW |
19 |
10,646,897 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9383:Pga5
|
UTSW |
19 |
10,646,897 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Pga5
|
UTSW |
19 |
10,646,523 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-12-18 |
Incidental Mutation