Incidental Mutation 'R5885:Psg27'
| ID |
456037 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Psg27
|
| Ensembl Gene |
ENSMUSG00000070797 |
| Gene Name |
pregnancy-specific beta-1-glycoprotein 27 |
| Synonyms |
cea15, EG545925 |
| MMRRC Submission |
043237-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5885 (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 18295711 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Tyrosine
at position 245
(N245Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000092388
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094794]
|
| AlphaFold |
Q497W2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000094794
AA Change: N245Y
PolyPhen 2
Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000092388
Gene: ENSMUSG00000070797
AA Change: N245Y
| 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: 99.9%
- 3x: 99.4%
- 10x: 97.4%
- 20x: 91.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot10 |
T |
A |
15: 20,666,190 (GRCm39) |
M184L |
probably benign |
Het |
| Adgrv1 |
A |
T |
13: 81,572,390 (GRCm39) |
S4924T |
probably benign |
Het |
| Atp10a |
T |
A |
7: 58,463,548 (GRCm39) |
M1027K |
possibly damaging |
Het |
| Axl |
T |
A |
7: 25,466,277 (GRCm39) |
K510I |
probably damaging |
Het |
| Azi2 |
T |
A |
9: 117,876,628 (GRCm39) |
I48N |
probably damaging |
Het |
| Cysltr2 |
T |
C |
14: 73,266,931 (GRCm39) |
K260E |
probably benign |
Het |
| Dnah3 |
T |
C |
7: 119,668,927 (GRCm39) |
I720V |
probably benign |
Het |
| Dnah8 |
C |
T |
17: 31,013,691 (GRCm39) |
P3811S |
probably damaging |
Het |
| Epas1 |
A |
G |
17: 87,134,972 (GRCm39) |
D535G |
probably damaging |
Het |
| Fam47e |
A |
G |
5: 92,713,827 (GRCm39) |
K152R |
probably damaging |
Het |
| Fbxl3 |
A |
T |
14: 103,320,667 (GRCm39) |
I260K |
probably benign |
Het |
| Fcgr3 |
A |
G |
1: 170,885,280 (GRCm39) |
V115A |
probably damaging |
Het |
| Fgf12 |
G |
T |
16: 28,217,046 (GRCm39) |
D98E |
possibly damaging |
Het |
| Flt3 |
T |
C |
5: 147,286,439 (GRCm39) |
T716A |
probably damaging |
Het |
| Gad1-ps |
G |
A |
10: 99,281,009 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr141b |
A |
T |
13: 19,913,519 (GRCm39) |
|
noncoding transcript |
Het |
| Grin2a |
A |
G |
16: 9,579,769 (GRCm39) |
Y165H |
possibly damaging |
Het |
| Ifna4 |
T |
A |
4: 88,760,599 (GRCm39) |
W168R |
probably damaging |
Het |
| Itga11 |
A |
G |
9: 62,670,132 (GRCm39) |
Y752C |
probably damaging |
Het |
| Khdrbs3 |
A |
G |
15: 68,896,547 (GRCm39) |
|
probably null |
Het |
| Kif24 |
A |
T |
4: 41,423,463 (GRCm39) |
Y263N |
probably damaging |
Het |
| Lama5 |
G |
T |
2: 179,843,624 (GRCm39) |
T441K |
probably damaging |
Het |
| Lrrc47 |
T |
A |
4: 154,100,429 (GRCm39) |
V335D |
possibly damaging |
Het |
| Map1b |
A |
T |
13: 99,566,589 (GRCm39) |
I2044N |
unknown |
Het |
| Mast2 |
C |
T |
4: 116,172,035 (GRCm39) |
G638S |
probably damaging |
Het |
| Myo9a |
T |
C |
9: 59,778,503 (GRCm39) |
S1420P |
probably benign |
Het |
| Neurl2 |
T |
C |
2: 164,674,811 (GRCm39) |
T184A |
probably damaging |
Het |
| Nfatc3 |
A |
G |
8: 106,822,944 (GRCm39) |
I577V |
probably benign |
Het |
| Nipal3 |
A |
T |
4: 135,199,288 (GRCm39) |
V186E |
probably damaging |
Het |
| Pgbd5 |
G |
A |
8: 125,111,205 (GRCm39) |
T162M |
probably damaging |
Het |
| Plod2 |
T |
A |
9: 92,488,709 (GRCm39) |
|
probably null |
Het |
| Psg22 |
T |
A |
7: 18,452,257 (GRCm39) |
L19Q |
probably damaging |
Het |
| Ptprc |
T |
A |
1: 138,016,246 (GRCm39) |
I539F |
probably damaging |
Het |
| Rad1 |
T |
C |
15: 10,488,143 (GRCm39) |
L59P |
probably damaging |
Het |
| Slc2a9 |
G |
A |
5: 38,598,017 (GRCm39) |
R137W |
probably damaging |
Het |
| Spats2l |
C |
T |
1: 57,985,321 (GRCm39) |
A458V |
probably damaging |
Het |
| Sptbn5 |
A |
G |
2: 119,907,144 (GRCm39) |
|
probably benign |
Het |
| Stox1 |
C |
A |
10: 62,500,627 (GRCm39) |
L644F |
probably damaging |
Het |
| Sv2b |
C |
T |
7: 74,806,501 (GRCm39) |
G213E |
probably damaging |
Het |
| Tas2r121 |
T |
G |
6: 132,677,254 (GRCm39) |
L239F |
probably damaging |
Het |
| Trrap |
T |
A |
5: 144,731,603 (GRCm39) |
V854E |
probably damaging |
Het |
| Vmn2r97 |
A |
G |
17: 19,168,035 (GRCm39) |
Y763C |
possibly damaging |
Het |
| Xkr6 |
T |
A |
14: 63,844,360 (GRCm39) |
W128R |
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 |
|
|
R2866:Psg27
|
UTSW |
7 |
18,295,818 (GRCm39) |
missense |
probably benign |
|
|
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 |
|
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'- GTGTGTCCTGCATAGAGTAGTC -3'
(R):5'- CCGTGTTCACAATCTTCCAGAG -3'
Sequencing Primer
(F):5'- GTGTCCTGCATAGAGTAGTCAAACC -3'
(R):5'- GTTCACAATCTTCCAGAGTATCTTC -3'
|
| Posted On |
2017-02-15 |
Incidental Mutation