Incidental Mutation 'IGL00417:Psg27'
ID |
5318 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Psg27
|
Ensembl Gene |
ENSMUSG00000070797 |
Gene Name |
pregnancy-specific beta-1-glycoprotein 27 |
Synonyms |
cea15, EG545925 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL00417
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
18290439-18301230 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 18295842 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Leucine
at position 201
(H201L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000092388
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094794]
|
AlphaFold |
Q497W2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000094794
AA Change: H201L
PolyPhen 2
Score 0.216 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000092388 Gene: ENSMUSG00000070797 AA Change: H201L
Domain | Start | End | E-Value | Type |
IG
|
39 |
140 |
4.13e-5 |
SMART |
IG
|
159 |
260 |
5.89e-1 |
SMART |
IG
|
279 |
380 |
1.39e-2 |
SMART |
IGc2
|
396 |
460 |
3.62e-10 |
SMART |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca16 |
A |
G |
7: 120,022,982 (GRCm39) |
I39M |
probably benign |
Het |
Acoxl |
G |
A |
2: 127,820,724 (GRCm39) |
C92Y |
probably damaging |
Het |
Actl6b |
G |
T |
5: 137,552,899 (GRCm39) |
R76L |
probably damaging |
Het |
Afg2a |
A |
G |
3: 37,505,951 (GRCm39) |
I677V |
possibly damaging |
Het |
Ank |
T |
C |
15: 27,544,437 (GRCm39) |
M66T |
possibly damaging |
Het |
C6 |
C |
T |
15: 4,789,449 (GRCm39) |
A298V |
possibly damaging |
Het |
Clip4 |
A |
T |
17: 72,156,937 (GRCm39) |
N591Y |
probably damaging |
Het |
Cntnap5b |
T |
C |
1: 99,978,479 (GRCm39) |
I165T |
probably damaging |
Het |
Dennd1b |
G |
A |
1: 138,990,678 (GRCm39) |
R214H |
probably damaging |
Het |
Eri2 |
G |
A |
7: 119,386,964 (GRCm39) |
T185I |
probably benign |
Het |
Fbxo33 |
A |
G |
12: 59,249,456 (GRCm39) |
V476A |
probably damaging |
Het |
Fer1l4 |
G |
A |
2: 155,861,840 (GRCm39) |
R1826* |
probably null |
Het |
Fyb1 |
A |
T |
15: 6,610,258 (GRCm39) |
K277I |
probably damaging |
Het |
Gli3 |
C |
A |
13: 15,818,884 (GRCm39) |
H229N |
probably damaging |
Het |
Hmcn1 |
T |
C |
1: 150,553,029 (GRCm39) |
I2554V |
probably benign |
Het |
Maml2 |
A |
T |
9: 13,532,900 (GRCm39) |
|
probably benign |
Het |
Map4k4 |
T |
C |
1: 40,053,692 (GRCm39) |
F930L |
possibly damaging |
Het |
Mmadhc |
T |
C |
2: 50,179,043 (GRCm39) |
D125G |
probably benign |
Het |
Nipbl |
A |
G |
15: 8,396,157 (GRCm39) |
S139P |
probably damaging |
Het |
Obscn |
A |
G |
11: 58,897,614 (GRCm39) |
L6647P |
unknown |
Het |
Ppara |
C |
A |
15: 85,685,268 (GRCm39) |
H406N |
probably benign |
Het |
Qser1 |
A |
T |
2: 104,617,248 (GRCm39) |
I1188N |
probably damaging |
Het |
Rc3h1 |
T |
C |
1: 160,783,551 (GRCm39) |
|
probably null |
Het |
Septin2 |
C |
T |
1: 93,426,864 (GRCm39) |
H158Y |
probably damaging |
Het |
Snx9 |
C |
A |
17: 5,942,172 (GRCm39) |
Q100K |
probably benign |
Het |
Thnsl2 |
G |
A |
6: 71,108,884 (GRCm39) |
T309I |
probably damaging |
Het |
Thsd7b |
A |
G |
1: 129,523,571 (GRCm39) |
R125G |
probably damaging |
Het |
Tmem62 |
T |
G |
2: 120,837,445 (GRCm39) |
|
probably null |
Het |
Tnpo3 |
A |
T |
6: 29,578,460 (GRCm39) |
|
probably null |
Het |
Trpc6 |
A |
T |
9: 8,680,439 (GRCm39) |
D889V |
probably damaging |
Het |
Tubgcp6 |
C |
A |
15: 88,988,211 (GRCm39) |
V913L |
probably benign |
Het |
Uox |
A |
T |
3: 146,333,565 (GRCm39) |
M255L |
probably benign |
Het |
|
Other mutations in Psg27 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00337:Psg27
|
APN |
7 |
18,295,729 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01344:Psg27
|
APN |
7 |
18,294,342 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01781:Psg27
|
APN |
7 |
18,298,989 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02547:Psg27
|
APN |
7 |
18,294,553 (GRCm39) |
missense |
probably benign |
|
IGL02926:Psg27
|
APN |
7 |
18,291,054 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL03074:Psg27
|
APN |
7 |
18,294,454 (GRCm39) |
missense |
probably benign |
0.02 |
IGL03237:Psg27
|
APN |
7 |
18,294,417 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02796:Psg27
|
UTSW |
7 |
18,295,875 (GRCm39) |
missense |
probably benign |
0.08 |
R0437:Psg27
|
UTSW |
7 |
18,294,636 (GRCm39) |
splice site |
probably benign |
|
R0604:Psg27
|
UTSW |
7 |
18,290,997 (GRCm39) |
missense |
probably damaging |
0.98 |
R1163:Psg27
|
UTSW |
7 |
18,299,234 (GRCm39) |
missense |
probably damaging |
0.99 |
R2072:Psg27
|
UTSW |
7 |
18,298,934 (GRCm39) |
missense |
probably benign |
0.16 |
R2072:Psg27
|
UTSW |
7 |
18,294,342 (GRCm39) |
missense |
probably damaging |
1.00 |
R2073:Psg27
|
UTSW |
7 |
18,294,342 (GRCm39) |
missense |
probably damaging |
1.00 |
R2074:Psg27
|
UTSW |
7 |
18,294,342 (GRCm39) |
missense |
probably damaging |
1.00 |
R2081:Psg27
|
UTSW |
7 |
18,290,883 (GRCm39) |
missense |
probably damaging |
1.00 |
R2206:Psg27
|
UTSW |
7 |
18,301,036 (GRCm39) |
nonsense |
probably null |
|
R2866:Psg27
|
UTSW |
7 |
18,295,818 (GRCm39) |
missense |
probably benign |
|
R3783:Psg27
|
UTSW |
7 |
18,294,279 (GRCm39) |
missense |
probably damaging |
1.00 |
R3784:Psg27
|
UTSW |
7 |
18,294,279 (GRCm39) |
missense |
probably damaging |
1.00 |
R4463:Psg27
|
UTSW |
7 |
18,291,010 (GRCm39) |
missense |
possibly damaging |
0.46 |
R5312:Psg27
|
UTSW |
7 |
18,290,958 (GRCm39) |
missense |
probably benign |
0.43 |
R5885:Psg27
|
UTSW |
7 |
18,295,711 (GRCm39) |
missense |
probably damaging |
0.96 |
R6087:Psg27
|
UTSW |
7 |
18,290,869 (GRCm39) |
missense |
probably benign |
0.05 |
R7011:Psg27
|
UTSW |
7 |
18,290,798 (GRCm39) |
missense |
probably benign |
0.00 |
R7198:Psg27
|
UTSW |
7 |
18,295,726 (GRCm39) |
missense |
probably damaging |
1.00 |
R7381:Psg27
|
UTSW |
7 |
18,301,008 (GRCm39) |
missense |
probably benign |
0.20 |
R7964:Psg27
|
UTSW |
7 |
18,299,124 (GRCm39) |
missense |
probably damaging |
1.00 |
R8398:Psg27
|
UTSW |
7 |
18,295,837 (GRCm39) |
missense |
probably benign |
0.29 |
R8472:Psg27
|
UTSW |
7 |
18,296,015 (GRCm39) |
missense |
probably benign |
0.18 |
R8818:Psg27
|
UTSW |
7 |
18,294,337 (GRCm39) |
missense |
probably damaging |
1.00 |
R9345:Psg27
|
UTSW |
7 |
18,299,081 (GRCm39) |
missense |
probably benign |
0.02 |
X0064:Psg27
|
UTSW |
7 |
18,295,720 (GRCm39) |
nonsense |
probably null |
|
|
Posted On |
2012-04-20 |