Incidental Mutation 'IGL01660:Pga5'
| ID |
103127 |
| 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 # |
IGL01660
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
10646321-10655435 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 10652456 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 95
(S95P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025647
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025647]
|
| AlphaFold |
Q9D106 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000025647
AA Change: S95P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000025647
Gene: ENSMUSG00000024738
AA Change: S95P
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acta2 |
A |
G |
19: 34,229,191 (GRCm39) |
I66T |
probably damaging |
Het |
| Actl11 |
T |
C |
9: 107,806,247 (GRCm39) |
V190A |
probably benign |
Het |
| Ankub1 |
T |
A |
3: 57,597,817 (GRCm39) |
Y51F |
possibly damaging |
Het |
| Armh3 |
A |
T |
19: 45,928,915 (GRCm39) |
L393H |
probably damaging |
Het |
| Ccdc63 |
G |
A |
5: 122,249,027 (GRCm39) |
S434L |
possibly damaging |
Het |
| Cdan1 |
T |
A |
2: 120,556,134 (GRCm39) |
I711F |
possibly damaging |
Het |
| Cep170b |
C |
A |
12: 112,710,594 (GRCm39) |
N1474K |
probably damaging |
Het |
| Cyp2c40 |
A |
G |
19: 39,775,254 (GRCm39) |
S333P |
probably damaging |
Het |
| Dars1 |
A |
G |
1: 128,343,081 (GRCm39) |
|
probably benign |
Het |
| Dock3 |
T |
A |
9: 106,909,563 (GRCm39) |
|
probably benign |
Het |
| Dsp |
A |
G |
13: 38,360,471 (GRCm39) |
I359V |
possibly damaging |
Het |
| Fut8 |
T |
G |
12: 77,497,032 (GRCm39) |
L414* |
probably null |
Het |
| Gja1 |
A |
G |
10: 56,264,544 (GRCm39) |
Y301C |
probably damaging |
Het |
| Glipr1l1 |
T |
C |
10: 111,908,184 (GRCm39) |
S161P |
probably damaging |
Het |
| Gpat4 |
A |
T |
8: 23,665,354 (GRCm39) |
|
probably null |
Het |
| Grhl1 |
T |
A |
12: 24,658,577 (GRCm39) |
|
probably null |
Het |
| Hectd3 |
T |
C |
4: 116,853,569 (GRCm39) |
V181A |
possibly damaging |
Het |
| Htr2a |
T |
A |
14: 74,943,194 (GRCm39) |
I258N |
probably damaging |
Het |
| Hyou1 |
T |
A |
9: 44,292,414 (GRCm39) |
D83E |
possibly damaging |
Het |
| Myh10 |
T |
A |
11: 68,676,715 (GRCm39) |
L862Q |
probably benign |
Het |
| Nkx2-2 |
T |
C |
2: 147,027,833 (GRCm39) |
S36G |
probably benign |
Het |
| Nsun2 |
T |
A |
13: 69,771,368 (GRCm39) |
V326E |
probably benign |
Het |
| Nuak2 |
T |
C |
1: 132,259,308 (GRCm39) |
V362A |
probably benign |
Het |
| Nyap2 |
G |
A |
1: 81,169,642 (GRCm39) |
C133Y |
probably damaging |
Het |
| Oas2 |
T |
C |
5: 120,879,288 (GRCm39) |
T351A |
probably benign |
Het |
| Or11m3 |
C |
T |
15: 98,396,076 (GRCm39) |
T241I |
probably damaging |
Het |
| Or5m13 |
T |
C |
2: 85,748,908 (GRCm39) |
I213T |
probably benign |
Het |
| Pde4d |
A |
T |
13: 110,074,606 (GRCm39) |
I404F |
probably damaging |
Het |
| Pitpnm2 |
A |
T |
5: 124,261,257 (GRCm39) |
D947E |
probably damaging |
Het |
| Pla2g10 |
C |
T |
16: 13,545,950 (GRCm39) |
R28H |
probably damaging |
Het |
| Prlr |
A |
G |
15: 10,317,676 (GRCm39) |
D84G |
probably damaging |
Het |
| Rbm15b |
C |
T |
9: 106,762,908 (GRCm39) |
G420D |
probably damaging |
Het |
| Tbcd |
A |
G |
11: 121,496,153 (GRCm39) |
T1063A |
probably benign |
Het |
| Tmc2 |
C |
T |
2: 130,102,144 (GRCm39) |
Q770* |
probably null |
Het |
| Tpo |
T |
C |
12: 30,169,399 (GRCm39) |
|
probably benign |
Het |
| Vim |
A |
G |
2: 13,579,624 (GRCm39) |
N128D |
probably damaging |
Het |
| Vmn1r21 |
A |
T |
6: 57,821,222 (GRCm39) |
I74N |
probably damaging |
Het |
| Vmn2r52 |
A |
C |
7: 9,893,107 (GRCm39) |
I677M |
probably damaging |
Het |
|
| Other mutations in Pga5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
|
IGL02871:Pga5
|
APN |
19 |
10,649,144 (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 |
2014-01-21 |
Incidental Mutation