Incidental Mutation 'R7588:Psg21'
ID |
587256 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Psg21
|
Ensembl Gene |
ENSMUSG00000070796 |
Gene Name |
pregnancy-specific beta-1-glycoprotein 21 |
Synonyms |
1600019C01Rik, 1600026N13Rik, 1600025N01Rik, cea8 |
MMRRC Submission |
045636-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.054)
|
Stock # |
R7588 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
18380661-18390650 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 18381134 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Aspartic acid
at position 470
(N470D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000092387
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094793]
[ENSMUST00000182128]
|
AlphaFold |
Q9DAV5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000094793
AA Change: N470D
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000092387 Gene: ENSMUSG00000070796 AA Change: N470D
Domain | Start | End | E-Value | Type |
IG
|
39 |
138 |
3.04e-3 |
SMART |
IG
|
159 |
260 |
7.25e-1 |
SMART |
IG
|
276 |
375 |
1.25e-4 |
SMART |
IGc2
|
393 |
457 |
1.47e-10 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000182128
|
SMART Domains |
Protein: ENSMUSP00000138173 Gene: ENSMUSG00000070796
Domain | Start | End | E-Value | Type |
IG
|
39 |
138 |
3.04e-3 |
SMART |
IG
|
159 |
260 |
7.25e-1 |
SMART |
IG
|
276 |
375 |
1.25e-4 |
SMART |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 98.9%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ap2b1 |
T |
A |
11: 83,215,348 (GRCm39) |
D97E |
probably benign |
Het |
Apbb1 |
G |
T |
7: 105,223,173 (GRCm39) |
P146Q |
probably benign |
Het |
Aste1 |
T |
A |
9: 105,274,590 (GRCm39) |
S277T |
possibly damaging |
Het |
Bnip5 |
T |
C |
17: 29,124,430 (GRCm39) |
K291E |
probably benign |
Het |
Cdk15 |
A |
G |
1: 59,383,458 (GRCm39) |
D415G |
possibly damaging |
Het |
Cep152 |
T |
A |
2: 125,411,546 (GRCm39) |
E1256D |
probably damaging |
Het |
Chd7 |
A |
G |
4: 8,864,039 (GRCm39) |
N2643S |
probably damaging |
Het |
Copg2 |
A |
G |
6: 30,788,526 (GRCm39) |
|
probably null |
Het |
D130043K22Rik |
T |
A |
13: 25,071,876 (GRCm39) |
I940N |
probably damaging |
Het |
Dnmt3a |
A |
G |
12: 3,946,080 (GRCm39) |
T312A |
possibly damaging |
Het |
Dock5 |
A |
G |
14: 68,000,607 (GRCm39) |
|
probably null |
Het |
Fam83g |
A |
T |
11: 61,575,522 (GRCm39) |
I55F |
probably damaging |
Het |
Fanci |
T |
C |
7: 79,084,017 (GRCm39) |
F780L |
possibly damaging |
Het |
Fhod3 |
G |
T |
18: 25,223,305 (GRCm39) |
A884S |
probably benign |
Het |
Gas6 |
T |
C |
8: 13,516,711 (GRCm39) |
S596G |
probably benign |
Het |
Gns |
T |
C |
10: 121,226,563 (GRCm39) |
V404A |
probably benign |
Het |
Gpatch1 |
T |
C |
7: 34,991,173 (GRCm39) |
N624D |
probably damaging |
Het |
Hmcn1 |
T |
C |
1: 150,532,885 (GRCm39) |
I3099M |
possibly damaging |
Het |
Itga1 |
A |
T |
13: 115,104,785 (GRCm39) |
S1080R |
possibly damaging |
Het |
Kcnk15 |
T |
C |
2: 163,700,226 (GRCm39) |
V155A |
probably damaging |
Het |
Luzp2 |
T |
A |
7: 54,724,838 (GRCm39) |
|
probably null |
Het |
Mapk8ip1 |
T |
A |
2: 92,216,984 (GRCm39) |
D446V |
possibly damaging |
Het |
Med1 |
T |
C |
11: 98,046,398 (GRCm39) |
E1466G |
unknown |
Het |
Mug1 |
A |
G |
6: 121,852,476 (GRCm39) |
R855G |
probably damaging |
Het |
Naalad2 |
C |
A |
9: 18,262,775 (GRCm39) |
V374F |
probably damaging |
Het |
Naip5 |
T |
C |
13: 100,356,204 (GRCm39) |
Q1137R |
probably benign |
Het |
Naip5 |
G |
T |
13: 100,356,205 (GRCm39) |
Q1137K |
not run |
Het |
Nlrp5 |
A |
G |
7: 23,107,576 (GRCm39) |
E83G |
probably benign |
Het |
Nod2 |
T |
C |
8: 89,401,536 (GRCm39) |
F901S |
possibly damaging |
Het |
Nps |
T |
C |
7: 134,870,508 (GRCm39) |
V10A |
probably benign |
Het |
Pbrm1 |
T |
A |
14: 30,806,900 (GRCm39) |
V1109E |
probably damaging |
Het |
Pcdh7 |
A |
G |
5: 57,877,246 (GRCm39) |
D267G |
probably damaging |
Het |
Pfkp |
A |
G |
13: 6,698,673 (GRCm39) |
Y15H |
possibly damaging |
Het |
Pgap6 |
T |
C |
17: 26,341,017 (GRCm39) |
Y176H |
probably damaging |
Het |
Ppm1b |
T |
C |
17: 85,320,997 (GRCm39) |
S380P |
probably benign |
Het |
Qrich2 |
T |
C |
11: 116,356,763 (GRCm39) |
N29D |
possibly damaging |
Het |
Reln |
T |
C |
5: 22,090,566 (GRCm39) |
T3431A |
probably benign |
Het |
Rfc1 |
A |
G |
5: 65,429,850 (GRCm39) |
V852A |
probably damaging |
Het |
Rttn |
T |
G |
18: 89,082,353 (GRCm39) |
D1426E |
probably damaging |
Het |
St3gal1 |
A |
G |
15: 66,983,195 (GRCm39) |
V187A |
possibly damaging |
Het |
Styxl1 |
G |
A |
5: 135,799,130 (GRCm39) |
P28L |
probably damaging |
Het |
Tcl1b4 |
A |
G |
12: 105,168,641 (GRCm39) |
|
probably benign |
Het |
Trav17 |
A |
G |
14: 54,044,302 (GRCm39) |
D24G |
probably benign |
Het |
Trim28 |
A |
C |
7: 12,763,347 (GRCm39) |
D496A |
probably damaging |
Het |
Trim29 |
T |
C |
9: 43,246,425 (GRCm39) |
Y574H |
probably damaging |
Het |
Trip12 |
G |
T |
1: 84,738,604 (GRCm39) |
F750L |
probably damaging |
Het |
Ubr3 |
C |
A |
2: 69,801,513 (GRCm39) |
T1007K |
probably damaging |
Het |
Zzz3 |
A |
G |
3: 152,128,405 (GRCm39) |
Y7C |
possibly damaging |
Het |
|
Other mutations in Psg21 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01571:Psg21
|
APN |
7 |
18,388,750 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02390:Psg21
|
APN |
7 |
18,386,556 (GRCm39) |
missense |
probably benign |
0.11 |
IGL02548:Psg21
|
APN |
7 |
18,388,961 (GRCm39) |
missense |
possibly damaging |
0.89 |
IGL03001:Psg21
|
APN |
7 |
18,386,410 (GRCm39) |
missense |
probably benign |
0.03 |
IGL03135:Psg21
|
APN |
7 |
18,388,843 (GRCm39) |
missense |
probably benign |
0.00 |
R0131:Psg21
|
UTSW |
7 |
18,388,793 (GRCm39) |
missense |
probably benign |
0.39 |
R0551:Psg21
|
UTSW |
7 |
18,386,565 (GRCm39) |
critical splice acceptor site |
probably null |
|
R1512:Psg21
|
UTSW |
7 |
18,390,425 (GRCm39) |
missense |
probably benign |
0.00 |
R1874:Psg21
|
UTSW |
7 |
18,384,741 (GRCm39) |
missense |
probably benign |
0.15 |
R1993:Psg21
|
UTSW |
7 |
18,388,695 (GRCm39) |
missense |
probably benign |
0.04 |
R2327:Psg21
|
UTSW |
7 |
18,386,378 (GRCm39) |
missense |
possibly damaging |
0.61 |
R3414:Psg21
|
UTSW |
7 |
18,386,305 (GRCm39) |
missense |
probably damaging |
1.00 |
R4422:Psg21
|
UTSW |
7 |
18,381,257 (GRCm39) |
missense |
probably damaging |
1.00 |
R5138:Psg21
|
UTSW |
7 |
18,390,453 (GRCm39) |
start codon destroyed |
probably null |
0.94 |
R5623:Psg21
|
UTSW |
7 |
18,388,939 (GRCm39) |
missense |
probably damaging |
1.00 |
R5686:Psg21
|
UTSW |
7 |
18,386,183 (GRCm39) |
intron |
probably benign |
|
R6166:Psg21
|
UTSW |
7 |
18,390,664 (GRCm39) |
unclassified |
probably benign |
|
R6177:Psg21
|
UTSW |
7 |
18,386,279 (GRCm39) |
missense |
possibly damaging |
0.64 |
R6190:Psg21
|
UTSW |
7 |
18,388,926 (GRCm39) |
missense |
possibly damaging |
0.61 |
R6210:Psg21
|
UTSW |
7 |
18,386,270 (GRCm39) |
missense |
probably damaging |
1.00 |
R6482:Psg21
|
UTSW |
7 |
18,388,664 (GRCm39) |
splice site |
probably null |
|
R6729:Psg21
|
UTSW |
7 |
18,386,516 (GRCm39) |
missense |
probably damaging |
1.00 |
R6866:Psg21
|
UTSW |
7 |
18,386,209 (GRCm39) |
missense |
probably damaging |
1.00 |
R6992:Psg21
|
UTSW |
7 |
18,388,668 (GRCm39) |
critical splice donor site |
probably null |
|
R7075:Psg21
|
UTSW |
7 |
18,388,786 (GRCm39) |
missense |
probably damaging |
1.00 |
R7081:Psg21
|
UTSW |
7 |
18,388,774 (GRCm39) |
nonsense |
probably null |
|
R7098:Psg21
|
UTSW |
7 |
18,386,470 (GRCm39) |
missense |
probably damaging |
1.00 |
R7582:Psg21
|
UTSW |
7 |
18,381,128 (GRCm39) |
makesense |
probably null |
|
R7607:Psg21
|
UTSW |
7 |
18,388,708 (GRCm39) |
missense |
probably benign |
0.02 |
R7830:Psg21
|
UTSW |
7 |
18,381,223 (GRCm39) |
missense |
probably damaging |
1.00 |
R7964:Psg21
|
UTSW |
7 |
18,381,136 (GRCm39) |
missense |
probably benign |
0.01 |
R8758:Psg21
|
UTSW |
7 |
18,384,678 (GRCm39) |
missense |
probably damaging |
1.00 |
R8972:Psg21
|
UTSW |
7 |
18,381,293 (GRCm39) |
missense |
probably benign |
0.03 |
R8988:Psg21
|
UTSW |
7 |
18,386,389 (GRCm39) |
missense |
probably benign |
0.00 |
R9119:Psg21
|
UTSW |
7 |
18,381,409 (GRCm39) |
missense |
probably benign |
0.14 |
R9446:Psg21
|
UTSW |
7 |
18,388,865 (GRCm39) |
missense |
probably benign |
0.00 |
|
Predicted Primers |
PCR Primer
(F):5'- GCACTGTGCAACAATAGTGAG -3'
(R):5'- CCGTTGGCTCTTCAACAATCAG -3'
Sequencing Primer
(F):5'- ACAGACATTGTGGTACCATATGCTCC -3'
(R):5'- GGCTCTTCAACAATCAGAGTCTG -3'
|
Posted On |
2019-10-24 |