Incidental Mutation 'R9279:Psg20'
| ID |
703500 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Psg20
|
| Ensembl Gene |
ENSMUSG00000063305 |
| Gene Name |
pregnancy-specific beta-1-glycoprotein 20 |
| Synonyms |
cea7, EG434540 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.047)
|
| Stock # |
R9279 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
18408032-18420110 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 18416670 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Serine
at position 149
(R149S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000075973
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076677]
[ENSMUST00000108482]
|
| AlphaFold |
E9Q9B4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000076677
AA Change: R149S
PolyPhen 2
Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000075973
Gene: ENSMUSG00000063305
AA Change: R149S
| Domain | Start | End | E-Value | Type |
|---|
|
IG
|
40 |
141 |
2.34e-4 |
SMART |
|
IG
|
160 |
261 |
2.14e0 |
SMART |
|
IG
|
280 |
381 |
8.01e-3 |
SMART |
|
IGc2
|
397 |
461 |
1.47e-10 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108482
AA Change: R149S
PolyPhen 2
Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000104122
Gene: ENSMUSG00000063305
AA Change: R149S
| Domain | Start | End | E-Value | Type |
|---|
|
IG
|
40 |
141 |
2.34e-4 |
SMART |
|
IG
|
160 |
261 |
2.14e0 |
SMART |
|
IG
|
277 |
378 |
8.01e-3 |
SMART |
|
IGc2
|
394 |
458 |
1.47e-10 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| Validation Efficiency |
100% (50/50) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akr7a5 |
A |
T |
4: 139,044,079 (GRCm39) |
H225L |
possibly damaging |
Het |
| Arhgap32 |
C |
A |
9: 32,168,655 (GRCm39) |
H879Q |
probably benign |
Het |
| Axin2 |
A |
G |
11: 108,833,128 (GRCm39) |
I438V |
possibly damaging |
Het |
| Btbd18 |
T |
A |
2: 84,491,920 (GRCm39) |
C34S |
probably damaging |
Het |
| Carns1 |
G |
T |
19: 4,216,256 (GRCm39) |
T642N |
possibly damaging |
Het |
| Casp8 |
T |
C |
1: 58,883,542 (GRCm39) |
I283T |
probably benign |
Het |
| Ccdc136 |
T |
A |
6: 29,421,982 (GRCm39) |
|
probably benign |
Het |
| Ccnk |
C |
A |
12: 108,161,946 (GRCm39) |
Q284K |
unknown |
Het |
| Ceacam12 |
T |
A |
7: 17,801,177 (GRCm39) |
L52H |
probably damaging |
Het |
| Cit |
G |
A |
5: 116,065,970 (GRCm39) |
D540N |
probably damaging |
Het |
| Cntnap1 |
T |
C |
11: 101,072,121 (GRCm39) |
V458A |
probably damaging |
Het |
| Col6a5 |
T |
A |
9: 105,758,976 (GRCm39) |
I2077F |
probably damaging |
Het |
| Dnah2 |
T |
C |
11: 69,409,104 (GRCm39) |
K425E |
probably benign |
Het |
| Eya2 |
A |
G |
2: 165,529,631 (GRCm39) |
S125G |
probably benign |
Het |
| Gabrg1 |
T |
G |
5: 70,934,599 (GRCm39) |
M260L |
probably benign |
Het |
| Greb1 |
T |
C |
12: 16,732,153 (GRCm39) |
S1603G |
probably damaging |
Het |
| Isx |
A |
G |
8: 75,600,434 (GRCm39) |
T56A |
probably benign |
Het |
| Kif2b |
A |
T |
11: 91,467,975 (GRCm39) |
S103T |
probably benign |
Het |
| Krtap26-1 |
T |
C |
16: 88,444,342 (GRCm39) |
H93R |
probably benign |
Het |
| Ltbp2 |
G |
A |
12: 84,837,864 (GRCm39) |
P1192L |
probably benign |
Het |
| Mdm4 |
G |
A |
1: 132,924,416 (GRCm39) |
T236M |
probably damaging |
Het |
| Mgat5 |
T |
A |
1: 127,325,348 (GRCm39) |
L405Q |
probably damaging |
Het |
| Msantd1 |
A |
G |
5: 35,080,885 (GRCm39) |
I272V |
probably benign |
Het |
| Ocstamp |
A |
G |
2: 165,237,768 (GRCm39) |
*499Q |
probably null |
Het |
| Or11h6 |
A |
G |
14: 50,880,493 (GRCm39) |
K252E |
possibly damaging |
Het |
| Or1e16 |
G |
A |
11: 73,279,789 (GRCm39) |
P21L |
probably benign |
Het |
| Or2n1d |
G |
A |
17: 38,646,414 (GRCm39) |
R122Q |
probably damaging |
Het |
| Or4c100 |
A |
G |
2: 88,356,211 (GRCm39) |
M95V |
probably benign |
Het |
| Or5b12 |
A |
T |
19: 12,897,309 (GRCm39) |
Y121* |
probably null |
Het |
| Pcdh15 |
T |
A |
10: 74,461,756 (GRCm39) |
|
probably benign |
Het |
| Pkdrej |
C |
T |
15: 85,700,834 (GRCm39) |
G1701S |
probably damaging |
Het |
| Ppp1r9a |
A |
G |
6: 5,113,757 (GRCm39) |
T754A |
probably damaging |
Het |
| Prss8 |
C |
A |
7: 127,527,082 (GRCm39) |
Q55H |
probably damaging |
Het |
| Ptprz1 |
T |
G |
6: 23,002,444 (GRCm39) |
N1511K |
probably benign |
Het |
| Rbbp8nl |
C |
T |
2: 179,920,894 (GRCm39) |
|
probably null |
Het |
| Sgk2 |
A |
G |
2: 162,854,975 (GRCm39) |
D362G |
probably benign |
Het |
| Sim1 |
T |
C |
10: 50,859,796 (GRCm39) |
Y553H |
probably damaging |
Het |
| Sipa1l2 |
T |
C |
8: 126,208,896 (GRCm39) |
D504G |
probably damaging |
Het |
| Smad7 |
T |
C |
18: 75,502,547 (GRCm39) |
V174A |
possibly damaging |
Het |
| Smarcc1 |
T |
A |
9: 109,996,792 (GRCm39) |
N303K |
possibly damaging |
Het |
| Snai3 |
T |
C |
8: 123,183,038 (GRCm39) |
H169R |
possibly damaging |
Het |
| Tecpr2 |
T |
A |
12: 110,895,505 (GRCm39) |
S331T |
possibly damaging |
Het |
| Tenm2 |
G |
A |
11: 35,959,303 (GRCm39) |
T1082I |
probably benign |
Het |
| Tle4 |
A |
T |
19: 14,429,890 (GRCm39) |
I627N |
probably damaging |
Het |
| Tnxb |
A |
T |
17: 34,898,088 (GRCm39) |
N912I |
possibly damaging |
Het |
| Ube2q2l |
A |
G |
6: 136,377,978 (GRCm39) |
V284A |
probably damaging |
Het |
| Vmn1r238 |
A |
T |
18: 3,122,994 (GRCm39) |
V140E |
probably damaging |
Het |
| Vmn1r65 |
G |
A |
7: 6,011,988 (GRCm39) |
T82I |
probably benign |
Het |
| Vps13b |
A |
G |
15: 35,572,290 (GRCm39) |
K969R |
probably damaging |
Het |
| Zfp943 |
A |
G |
17: 22,209,832 (GRCm39) |
R35G |
possibly damaging |
Het |
|
| Other mutations in Psg20 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00492:Psg20
|
APN |
7 |
18,408,536 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
IGL01459:Psg20
|
APN |
7 |
18,416,638 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01599:Psg20
|
APN |
7 |
18,414,963 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
IGL01678:Psg20
|
APN |
7 |
18,414,795 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01991:Psg20
|
APN |
7 |
18,418,350 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02449:Psg20
|
APN |
7 |
18,418,333 (GRCm39) |
splice site |
probably benign |
|
|
IGL02522:Psg20
|
APN |
7 |
18,416,356 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL03358:Psg20
|
APN |
7 |
18,414,891 (GRCm39) |
missense |
probably benign |
0.04 |
|
PIT4431001:Psg20
|
UTSW |
7 |
18,408,475 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0136:Psg20
|
UTSW |
7 |
18,416,432 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0184:Psg20
|
UTSW |
7 |
18,419,901 (GRCm39) |
missense |
probably null |
0.95 |
|
R0894:Psg20
|
UTSW |
7 |
18,414,969 (GRCm39) |
nonsense |
probably null |
|
|
R1291:Psg20
|
UTSW |
7 |
18,418,599 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R1997:Psg20
|
UTSW |
7 |
18,416,535 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2118:Psg20
|
UTSW |
7 |
18,414,947 (GRCm39) |
missense |
probably benign |
0.19 |
|
R2119:Psg20
|
UTSW |
7 |
18,414,947 (GRCm39) |
missense |
probably benign |
0.19 |
|
R2120:Psg20
|
UTSW |
7 |
18,414,947 (GRCm39) |
missense |
probably benign |
0.19 |
|
R2121:Psg20
|
UTSW |
7 |
18,414,947 (GRCm39) |
missense |
probably benign |
0.19 |
|
R2124:Psg20
|
UTSW |
7 |
18,414,947 (GRCm39) |
missense |
probably benign |
0.19 |
|
R2127:Psg20
|
UTSW |
7 |
18,416,643 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3795:Psg20
|
UTSW |
7 |
18,418,374 (GRCm39) |
missense |
probably benign |
0.09 |
|
R4115:Psg20
|
UTSW |
7 |
18,419,905 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4238:Psg20
|
UTSW |
7 |
18,418,434 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5004:Psg20
|
UTSW |
7 |
18,414,837 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5025:Psg20
|
UTSW |
7 |
18,408,291 (GRCm39) |
makesense |
probably null |
|
|
R6294:Psg20
|
UTSW |
7 |
18,416,604 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6733:Psg20
|
UTSW |
7 |
18,408,547 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6744:Psg20
|
UTSW |
7 |
18,408,505 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6799:Psg20
|
UTSW |
7 |
18,418,345 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7466:Psg20
|
UTSW |
7 |
18,418,392 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7524:Psg20
|
UTSW |
7 |
18,418,584 (GRCm39) |
missense |
probably benign |
0.18 |
|
R7583:Psg20
|
UTSW |
7 |
18,416,408 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7941:Psg20
|
UTSW |
7 |
18,415,102 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R8010:Psg20
|
UTSW |
7 |
18,414,992 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8247:Psg20
|
UTSW |
7 |
18,416,562 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8762:Psg20
|
UTSW |
7 |
18,408,557 (GRCm39) |
missense |
probably benign |
|
|
R8804:Psg20
|
UTSW |
7 |
18,416,584 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R9138:Psg20
|
UTSW |
7 |
18,418,595 (GRCm39) |
missense |
|
|
|
R9683:Psg20
|
UTSW |
7 |
18,416,508 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGGGATCCATTGCTGAACAC -3'
(R):5'- TCAGAAGGTTGTCAGTCACTG -3'
Sequencing Primer
(F):5'- CAGGGCCTGGATCGCTTAAATTC -3'
(R):5'- CAGAAGGTTGTCAGTCACTGTGTAC -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation