Incidental Mutation 'R6744:Psg20'
| ID |
532786 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Psg20
|
| Ensembl Gene |
ENSMUSG00000063305 |
| Gene Name |
pregnancy-specific beta-1-glycoprotein 20 |
| Synonyms |
cea7, EG434540 |
| MMRRC Submission |
044861-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.047)
|
| Stock # |
R6744 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
18408032-18420110 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 18408505 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 405
(T405I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000075973
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076677]
[ENSMUST00000108482]
|
| AlphaFold |
E9Q9B4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000076677
AA Change: T405I
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000075973
Gene: ENSMUSG00000063305
AA Change: T405I
| 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 damaging
Transcript: ENSMUST00000108482
AA Change: T402I
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000104122
Gene: ENSMUSG00000063305
AA Change: T402I
| 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: 99.9%
- 3x: 99.7%
- 10x: 98.7%
- 20x: 96.6%
|
| Validation Efficiency |
98% (47/48) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahi1 |
T |
A |
10: 20,841,466 (GRCm39) |
L251H |
probably damaging |
Het |
| Alk |
A |
T |
17: 72,910,077 (GRCm39) |
S210T |
probably benign |
Het |
| Arap2 |
A |
G |
5: 62,906,281 (GRCm39) |
F246S |
probably damaging |
Het |
| Atad5 |
T |
A |
11: 80,024,858 (GRCm39) |
N1749K |
probably benign |
Het |
| C87436 |
T |
A |
6: 86,423,046 (GRCm39) |
S207T |
probably damaging |
Het |
| C8b |
C |
T |
4: 104,631,543 (GRCm39) |
R53W |
probably damaging |
Het |
| Catsperg2 |
A |
G |
7: 29,409,244 (GRCm39) |
V619A |
probably benign |
Het |
| Cdc73 |
G |
A |
1: 143,577,887 (GRCm39) |
|
probably benign |
Het |
| Cdh4 |
C |
A |
2: 179,489,180 (GRCm39) |
H297Q |
possibly damaging |
Het |
| Col3a1 |
G |
T |
1: 45,377,782 (GRCm39) |
|
probably benign |
Het |
| Crybg2 |
A |
G |
4: 133,816,207 (GRCm39) |
N1328S |
probably damaging |
Het |
| Ctnnb1 |
T |
A |
9: 120,782,025 (GRCm39) |
V346E |
probably damaging |
Het |
| Ctns |
C |
T |
11: 73,076,111 (GRCm39) |
G308E |
probably damaging |
Het |
| Cxxc4 |
AGGCGGCGGCGGCGGCGGCGGCGGC |
AGGCGGCGGCGGCGGCGGCGGCGGCGGC |
3: 133,945,891 (GRCm39) |
|
probably benign |
Het |
| Dnah6 |
A |
G |
6: 73,014,532 (GRCm39) |
I3685T |
probably damaging |
Het |
| Dock6 |
T |
C |
9: 21,742,770 (GRCm39) |
H775R |
probably damaging |
Het |
| Eef1ece2 |
A |
T |
16: 20,449,116 (GRCm39) |
K165N |
probably damaging |
Het |
| Fbxl3 |
A |
T |
14: 103,320,730 (GRCm39) |
V239D |
probably damaging |
Het |
| Gh |
T |
A |
11: 106,192,230 (GRCm39) |
K55* |
probably null |
Het |
| Havcr2 |
T |
G |
11: 46,345,887 (GRCm39) |
|
probably null |
Het |
| Kcnq2 |
T |
A |
2: 180,727,099 (GRCm39) |
H576L |
possibly damaging |
Het |
| Kifap3 |
A |
G |
1: 163,676,239 (GRCm39) |
N398S |
probably benign |
Het |
| Lama5 |
G |
A |
2: 179,833,455 (GRCm39) |
P1519L |
probably damaging |
Het |
| Mblac1 |
A |
G |
5: 138,192,682 (GRCm39) |
E8G |
possibly damaging |
Het |
| Mtor |
C |
T |
4: 148,543,112 (GRCm39) |
T290I |
probably benign |
Het |
| Nceh1 |
T |
C |
3: 27,295,938 (GRCm39) |
Y400H |
probably damaging |
Het |
| Nek9 |
A |
G |
12: 85,376,703 (GRCm39) |
V226A |
probably benign |
Het |
| Or10a3 |
T |
C |
7: 108,480,037 (GRCm39) |
T259A |
probably damaging |
Het |
| Or10al3 |
T |
A |
17: 38,012,336 (GRCm39) |
Y258* |
probably null |
Het |
| Or2d4 |
A |
G |
7: 106,543,741 (GRCm39) |
S156P |
probably damaging |
Het |
| Otud4 |
C |
A |
8: 80,400,407 (GRCm39) |
Y1039* |
probably null |
Het |
| Pax4 |
T |
C |
6: 28,442,396 (GRCm39) |
H331R |
probably benign |
Het |
| Piezo2 |
A |
T |
18: 63,165,960 (GRCm39) |
Y2090* |
probably null |
Het |
| Ppp1r12a |
T |
A |
10: 108,066,395 (GRCm39) |
H195Q |
probably damaging |
Het |
| Ppp6r2 |
A |
G |
15: 89,140,864 (GRCm39) |
|
probably null |
Het |
| Prodh |
A |
G |
16: 17,897,064 (GRCm39) |
V23A |
probably benign |
Het |
| Ptprf |
T |
C |
4: 118,093,562 (GRCm39) |
D360G |
probably benign |
Het |
| Qrfprl |
T |
A |
6: 65,418,324 (GRCm39) |
M164K |
possibly damaging |
Het |
| Rad18 |
A |
T |
6: 112,652,745 (GRCm39) |
M284K |
probably damaging |
Het |
| Rgs17 |
T |
C |
10: 5,792,567 (GRCm39) |
K60E |
possibly damaging |
Het |
| Sec31a |
G |
T |
5: 100,540,358 (GRCm39) |
Q39K |
possibly damaging |
Het |
| Slc22a22 |
G |
T |
15: 57,117,668 (GRCm39) |
T291K |
possibly damaging |
Het |
| Sult2a6 |
C |
T |
7: 13,956,470 (GRCm39) |
E264K |
probably damaging |
Het |
| Syne2 |
C |
T |
12: 76,121,221 (GRCm39) |
R5896C |
probably damaging |
Het |
| Tctn1 |
A |
T |
5: 122,402,209 (GRCm39) |
V75D |
probably damaging |
Het |
| Tmem214 |
A |
G |
5: 31,031,372 (GRCm39) |
K409E |
probably damaging |
Het |
| Vcan |
T |
C |
13: 89,853,301 (GRCm39) |
Y553C |
probably damaging |
Het |
| Vmn1r49 |
C |
T |
6: 90,049,184 (GRCm39) |
V273I |
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 |
|
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 |
|
|
|
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'- ACTGGTCTTTGAGCTGACTG -3'
(R):5'- CAACCTCAGTGGCTGAATCAG -3'
Sequencing Primer
(F):5'- TGACTGGGTTGAAGGCCTCAC -3'
(R):5'- CTCAGTGGCTGAATCAGGATCATAC -3'
|
| Posted On |
2018-08-29 |
Incidental Mutation