Incidental Mutation 'R2866:Psg27'
ID |
253244 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Psg27
|
Ensembl Gene |
ENSMUSG00000070797 |
Gene Name |
pregnancy-specific beta-1-glycoprotein 27 |
Synonyms |
cea15, EG545925 |
MMRRC Submission |
040455-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2866 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
18290439-18301230 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 18295818 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Valine
at position 209
(D209V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000092388
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094794]
|
AlphaFold |
Q497W2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000094794
AA Change: D209V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000092388 Gene: ENSMUSG00000070797 AA Change: D209V
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 |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Atmin |
T |
A |
8: 117,683,112 (GRCm39) |
D257E |
probably benign |
Het |
Best1 |
T |
C |
19: 9,963,585 (GRCm39) |
E532G |
probably benign |
Het |
Cenpj |
T |
C |
14: 56,789,637 (GRCm39) |
H804R |
probably benign |
Het |
Clec2g |
T |
C |
6: 128,925,719 (GRCm39) |
S43P |
probably benign |
Het |
Col8a2 |
A |
G |
4: 126,204,992 (GRCm39) |
|
probably benign |
Het |
Cpz |
T |
C |
5: 35,659,705 (GRCm39) |
K647E |
probably benign |
Het |
Csmd2 |
T |
C |
4: 128,308,185 (GRCm39) |
|
probably null |
Het |
Ctss |
A |
G |
3: 95,452,717 (GRCm39) |
K166R |
probably benign |
Het |
Cyp2c23 |
T |
C |
19: 43,993,885 (GRCm39) |
R494G |
probably damaging |
Het |
Cyp2c68 |
A |
G |
19: 39,677,589 (GRCm39) |
I467T |
probably damaging |
Het |
Dcaf11 |
A |
T |
14: 55,803,202 (GRCm39) |
T299S |
possibly damaging |
Het |
Dennd1b |
A |
G |
1: 139,098,019 (GRCm39) |
S762G |
possibly damaging |
Het |
Epb42 |
C |
T |
2: 120,856,402 (GRCm39) |
A381T |
possibly damaging |
Het |
Fhad1 |
A |
G |
4: 141,648,099 (GRCm39) |
Y256H |
probably benign |
Het |
Gfra1 |
C |
T |
19: 58,227,739 (GRCm39) |
A395T |
possibly damaging |
Het |
Gm10323 |
C |
A |
13: 67,002,574 (GRCm39) |
C55F |
probably benign |
Het |
Greb1 |
T |
C |
12: 16,749,551 (GRCm39) |
S1092G |
probably damaging |
Het |
Grid1 |
A |
T |
14: 35,284,516 (GRCm39) |
D753V |
probably damaging |
Het |
Grin2b |
A |
G |
6: 135,710,637 (GRCm39) |
F970L |
probably damaging |
Het |
Kcnma1 |
A |
T |
14: 23,423,275 (GRCm39) |
N682K |
probably benign |
Het |
Lat2 |
T |
A |
5: 134,634,798 (GRCm39) |
D114V |
probably damaging |
Het |
Lcat |
C |
T |
8: 106,666,511 (GRCm39) |
C337Y |
probably damaging |
Het |
Mapk10 |
C |
T |
5: 103,186,548 (GRCm39) |
D25N |
probably benign |
Het |
Mroh7 |
C |
T |
4: 106,548,287 (GRCm39) |
G1064R |
probably damaging |
Het |
Muc21 |
T |
C |
17: 35,930,599 (GRCm39) |
|
probably benign |
Het |
Or10h5 |
T |
A |
17: 33,435,252 (GRCm39) |
H22L |
probably benign |
Het |
Or51ah3 |
A |
T |
7: 103,210,064 (GRCm39) |
I127F |
probably damaging |
Het |
Or5p5 |
T |
A |
7: 107,414,126 (GRCm39) |
C112S |
probably benign |
Het |
Or8k39 |
A |
T |
2: 86,563,773 (GRCm39) |
F61Y |
possibly damaging |
Het |
Polr1has |
A |
T |
17: 37,276,052 (GRCm39) |
R211S |
possibly damaging |
Het |
Ptgir |
A |
G |
7: 16,640,794 (GRCm39) |
M29V |
possibly damaging |
Het |
Pzp |
A |
G |
6: 128,502,227 (GRCm39) |
S41P |
possibly damaging |
Het |
Rab23 |
A |
T |
1: 33,777,376 (GRCm39) |
K163N |
possibly damaging |
Het |
Rilpl2 |
T |
C |
5: 124,615,898 (GRCm39) |
D84G |
probably damaging |
Het |
Sorl1 |
A |
G |
9: 41,881,077 (GRCm39) |
I2148T |
probably benign |
Het |
Tead1 |
A |
G |
7: 112,358,694 (GRCm39) |
E2G |
probably damaging |
Het |
Tigd4 |
A |
G |
3: 84,501,259 (GRCm39) |
N59D |
possibly damaging |
Het |
Tmprss15 |
T |
A |
16: 78,832,121 (GRCm39) |
D345V |
possibly damaging |
Het |
Togaram2 |
T |
C |
17: 72,016,592 (GRCm39) |
S649P |
probably benign |
Het |
Ucp2 |
T |
C |
7: 100,146,459 (GRCm39) |
V95A |
probably benign |
Het |
Usp17lb |
T |
C |
7: 104,489,955 (GRCm39) |
D323G |
probably damaging |
Het |
Zfp677 |
A |
T |
17: 21,617,518 (GRCm39) |
K192* |
probably null |
Het |
Zmym2 |
T |
A |
14: 57,165,705 (GRCm39) |
I676K |
probably damaging |
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 |
IGL00417:Psg27
|
APN |
7 |
18,295,842 (GRCm39) |
missense |
probably benign |
0.22 |
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 |
|
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- ACATGCCAGCAGTGACAGTG -3'
(R):5'- CCCTGCCAAGCTCACTATTGAATC -3'
Sequencing Primer
(F):5'- TGACAGTGCTCCTGGTAGAAGC -3'
(R):5'- AGCTCACTATTGAATCAGTGCCG -3'
|
Posted On |
2014-12-04 |