Incidental Mutation 'R7941:Psg20'
ID |
649051 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Psg20
|
Ensembl Gene |
ENSMUSG00000063305 |
Gene Name |
pregnancy-specific beta-1-glycoprotein 20 |
Synonyms |
cea7, EG434540 |
MMRRC Submission |
045987-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.047)
|
Stock # |
R7941 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
18408032-18420110 bp(-) (GRCm39) |
Type of Mutation |
critical splice acceptor site |
DNA Base Change (assembly) |
T to A
at 18415102 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000075973
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076677]
[ENSMUST00000076677]
[ENSMUST00000076677]
[ENSMUST00000108482]
[ENSMUST00000108482]
[ENSMUST00000108482]
|
AlphaFold |
E9Q9B4 |
Predicted Effect |
probably null
Transcript: ENSMUST00000076677
|
SMART Domains |
Protein: ENSMUSP00000075973 Gene: ENSMUSG00000063305
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 null
Transcript: ENSMUST00000076677
|
SMART Domains |
Protein: ENSMUSP00000075973 Gene: ENSMUSG00000063305
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 null
Transcript: ENSMUST00000076677
|
SMART Domains |
Protein: ENSMUSP00000075973 Gene: ENSMUSG00000063305
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 null
Transcript: ENSMUST00000108482
|
SMART Domains |
Protein: ENSMUSP00000104122 Gene: ENSMUSG00000063305
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 |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000108482
|
SMART Domains |
Protein: ENSMUSP00000104122 Gene: ENSMUSG00000063305
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 |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000108482
|
SMART Domains |
Protein: ENSMUSP00000104122 Gene: ENSMUSG00000063305
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: 100.0%
- 10x: 99.7%
- 20x: 98.9%
|
Validation Efficiency |
98% (43/44) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abl1 |
T |
C |
2: 31,579,691 (GRCm39) |
|
probably benign |
Het |
AI467606 |
A |
G |
7: 126,691,593 (GRCm39) |
E56G |
probably damaging |
Het |
Ak9 |
C |
T |
10: 41,285,133 (GRCm39) |
P1403S |
unknown |
Het |
Akr1c14 |
A |
G |
13: 4,109,713 (GRCm39) |
K28E |
probably benign |
Het |
Ampd2 |
C |
A |
3: 107,987,432 (GRCm39) |
V134L |
probably benign |
Het |
Anks1b |
A |
T |
10: 90,413,017 (GRCm39) |
N55I |
probably damaging |
Het |
Cabyr |
T |
C |
18: 12,877,825 (GRCm39) |
L54P |
probably damaging |
Het |
Cachd1 |
A |
T |
4: 100,845,370 (GRCm39) |
N954I |
probably damaging |
Het |
Cenpf |
A |
G |
1: 189,389,483 (GRCm39) |
S1450P |
probably damaging |
Het |
Chst10 |
T |
A |
1: 38,910,772 (GRCm39) |
I131L |
probably damaging |
Het |
Cluh |
A |
T |
11: 74,550,583 (GRCm39) |
M270L |
probably benign |
Het |
Dagla |
T |
C |
19: 10,248,867 (GRCm39) |
H29R |
probably damaging |
Het |
Dusp5 |
A |
G |
19: 53,525,964 (GRCm39) |
N202S |
probably benign |
Het |
Elavl3 |
A |
G |
9: 21,947,612 (GRCm39) |
I110T |
possibly damaging |
Het |
Fam222b |
G |
T |
11: 78,045,885 (GRCm39) |
G482V |
possibly damaging |
Het |
Fbxl7 |
A |
G |
15: 26,543,699 (GRCm39) |
L316P |
probably damaging |
Het |
Gad1 |
T |
A |
2: 70,424,929 (GRCm39) |
|
probably null |
Het |
H2-K2 |
T |
C |
17: 34,218,305 (GRCm39) |
T204A |
probably benign |
Het |
Hmcn1 |
A |
G |
1: 150,525,835 (GRCm39) |
V3296A |
possibly damaging |
Het |
Hyal1 |
T |
C |
9: 107,455,299 (GRCm39) |
F203S |
probably damaging |
Het |
Il16 |
T |
A |
7: 83,332,037 (GRCm39) |
D181V |
probably damaging |
Het |
Ip6k1 |
T |
C |
9: 107,901,631 (GRCm39) |
F69L |
probably damaging |
Het |
Klf4 |
G |
A |
4: 55,531,755 (GRCm39) |
|
probably benign |
Het |
Lsr |
T |
G |
7: 30,672,520 (GRCm39) |
I27L |
probably benign |
Het |
Mettl4 |
A |
T |
17: 95,040,622 (GRCm39) |
|
probably null |
Het |
Mpdz |
A |
G |
4: 81,200,987 (GRCm39) |
V1902A |
probably benign |
Het |
Nfkbiz |
C |
T |
16: 55,642,307 (GRCm39) |
G37D |
probably damaging |
Het |
Or5w11 |
T |
C |
2: 87,459,248 (GRCm39) |
V31A |
probably benign |
Het |
Otogl |
A |
T |
10: 107,642,663 (GRCm39) |
|
probably null |
Het |
Pcdh1 |
T |
C |
18: 38,332,133 (GRCm39) |
D429G |
probably damaging |
Het |
Pramel34 |
A |
T |
5: 93,785,887 (GRCm39) |
V131D |
probably benign |
Het |
Prelid2 |
A |
T |
18: 42,065,816 (GRCm39) |
L73* |
probably null |
Het |
Ptprb |
GAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT |
GAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT |
10: 116,119,582 (GRCm39) |
|
probably benign |
Het |
Rab24 |
C |
T |
13: 55,468,120 (GRCm39) |
|
probably null |
Het |
Rag1 |
T |
G |
2: 101,472,691 (GRCm39) |
K817T |
probably benign |
Het |
Rgl2 |
T |
C |
17: 34,150,713 (GRCm39) |
V57A |
probably benign |
Het |
Ric1 |
T |
C |
19: 29,510,659 (GRCm39) |
M80T |
probably damaging |
Het |
Sh3rf3 |
T |
C |
10: 58,842,883 (GRCm39) |
I283T |
probably damaging |
Het |
Skint2 |
C |
A |
4: 112,483,187 (GRCm39) |
N197K |
probably damaging |
Het |
Snapc4 |
A |
G |
2: 26,266,730 (GRCm39) |
I126T |
probably damaging |
Het |
Srcap |
GTCCTCCTCCTCCTCCTCCTGCTCCTCCTCCTCCTCCT |
GTCCTCCTCCTCCTCCTGCTCCTCCTCCTCCTCCT |
7: 127,157,462 (GRCm39) |
|
probably benign |
Het |
Svip |
T |
C |
7: 51,653,161 (GRCm39) |
K51R |
probably benign |
Het |
Syndig1 |
T |
A |
2: 149,741,708 (GRCm39) |
V98E |
probably benign |
Het |
Tshz1 |
A |
T |
18: 84,033,517 (GRCm39) |
M297K |
possibly damaging |
Het |
Ttn |
A |
G |
2: 76,749,694 (GRCm39) |
V3785A |
probably benign |
Het |
Usf3 |
T |
C |
16: 44,035,924 (GRCm39) |
S135P |
probably damaging |
Het |
Vmn2r10 |
A |
T |
5: 109,144,306 (GRCm39) |
M548K |
probably damaging |
Het |
Vmn2r92 |
T |
C |
17: 18,405,099 (GRCm39) |
S748P |
possibly damaging |
Het |
Zbtb39 |
A |
G |
10: 127,579,409 (GRCm39) |
Y661C |
probably damaging |
Het |
Zfp804b |
A |
G |
5: 6,820,042 (GRCm39) |
I1007T |
probably benign |
Het |
Zscan4-ps2 |
A |
G |
7: 11,251,599 (GRCm39) |
I212V |
probably benign |
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 |
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 |
|
|
R9279:Psg20
|
UTSW |
7 |
18,416,670 (GRCm39) |
missense |
probably benign |
0.06 |
R9683:Psg20
|
UTSW |
7 |
18,416,508 (GRCm39) |
nonsense |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- GCAGGGATCCATTAGTGTACCC -3'
(R):5'- ATGACAGATTCTGTGGCACTG -3'
Sequencing Primer
(F):5'- GTAGCCACTGAAAATGGACTTCATCG -3'
(R):5'- CACTGAGGGCTGTTGCTGAC -3'
|
Posted On |
2020-09-15 |