Incidental Mutation 'R4480:Psg18'
| ID |
331424 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Psg18
|
| Ensembl Gene |
ENSMUSG00000003505 |
| Gene Name |
pregnancy specific beta-1-glycoprotein 18 |
| Synonyms |
Cea-3, mmCGM6, Cea3 |
| MMRRC Submission |
041737-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.054)
|
| Stock # |
R4480 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
18079669-18088963 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 18084787 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Asparagine
at position 103
(S103N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000096380
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003597]
[ENSMUST00000098783]
|
| AlphaFold |
B2RSG7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000003597
AA Change: S224N
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000003597
Gene: ENSMUSG00000003505
AA Change: S224N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
19 |
30 |
N/A |
INTRINSIC |
|
IG
|
40 |
140 |
2.11e-2 |
SMART |
|
IG
|
161 |
262 |
1.03e0 |
SMART |
|
IG
|
281 |
380 |
2.15e-3 |
SMART |
|
IGc2
|
398 |
462 |
1.58e-10 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000098783
AA Change: S103N
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000096380
Gene: ENSMUSG00000003505
AA Change: S103N
| Domain | Start | End | E-Value | Type |
|---|
|
IG
|
40 |
141 |
1.03e0 |
SMART |
|
IG
|
160 |
259 |
2.15e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000182983
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183222
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.8%
|
| Validation Efficiency |
95% (40/42) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc6 |
T |
C |
7: 45,654,663 (GRCm39) |
T553A |
possibly damaging |
Het |
| Adgrb3 |
A |
T |
1: 25,150,829 (GRCm39) |
F1135I |
probably damaging |
Het |
| Arfgef3 |
A |
T |
10: 18,476,348 (GRCm39) |
F1490L |
probably damaging |
Het |
| Begain |
A |
G |
12: 109,000,049 (GRCm39) |
Y446H |
probably damaging |
Het |
| Cdh15 |
A |
G |
8: 123,591,415 (GRCm39) |
H517R |
probably benign |
Het |
| Cemip2 |
A |
G |
19: 21,792,853 (GRCm39) |
Q703R |
probably benign |
Het |
| D130040H23Rik |
C |
A |
8: 69,755,155 (GRCm39) |
H187N |
possibly damaging |
Het |
| Dip2b |
C |
T |
15: 100,084,182 (GRCm39) |
T935M |
probably damaging |
Het |
| Eif2s2 |
T |
C |
2: 154,730,190 (GRCm39) |
T36A |
probably benign |
Het |
| Eif4g1 |
G |
T |
16: 20,497,593 (GRCm39) |
|
probably benign |
Het |
| Fat3 |
G |
A |
9: 15,909,567 (GRCm39) |
S2145F |
probably damaging |
Het |
| Fbxo10 |
T |
C |
4: 45,048,470 (GRCm39) |
Y555C |
probably damaging |
Het |
| Fpr2 |
C |
T |
17: 18,114,015 (GRCm39) |
T337I |
probably benign |
Het |
| Frem3 |
A |
T |
8: 81,337,986 (GRCm39) |
Q93L |
probably benign |
Het |
| Gapdh |
A |
G |
6: 125,140,145 (GRCm39) |
V119A |
possibly damaging |
Het |
| Gm3159 |
T |
C |
14: 4,398,584 (GRCm38) |
Y92H |
probably damaging |
Het |
| Hkdc1 |
T |
C |
10: 62,227,151 (GRCm39) |
I769V |
probably benign |
Het |
| Ifne |
T |
C |
4: 88,797,838 (GRCm39) |
*193W |
probably null |
Het |
| Katna1 |
T |
C |
10: 7,614,594 (GRCm39) |
V32A |
probably damaging |
Het |
| Nup107 |
T |
C |
10: 117,597,237 (GRCm39) |
I673V |
probably benign |
Het |
| Nup188 |
T |
A |
2: 30,212,141 (GRCm39) |
|
probably benign |
Het |
| Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
| Or10g1 |
G |
A |
14: 52,647,765 (GRCm39) |
A188V |
probably damaging |
Het |
| Or2t48 |
G |
T |
11: 58,420,627 (GRCm39) |
P62T |
probably damaging |
Het |
| Pcdhb5 |
T |
A |
18: 37,453,805 (GRCm39) |
S62T |
probably benign |
Het |
| Plekha5 |
T |
C |
6: 140,472,205 (GRCm39) |
V44A |
probably damaging |
Het |
| Ptprcap |
A |
G |
19: 4,206,223 (GRCm39) |
E102G |
probably benign |
Het |
| Ptprs |
A |
G |
17: 56,733,404 (GRCm39) |
V804A |
possibly damaging |
Het |
| Rab35 |
C |
A |
5: 115,775,823 (GRCm39) |
S34* |
probably null |
Het |
| Slco6d1 |
T |
A |
1: 98,435,299 (GRCm39) |
Y671* |
probably null |
Het |
| Sostdc1 |
A |
G |
12: 36,367,165 (GRCm39) |
I114V |
probably damaging |
Het |
| Tecta |
A |
G |
9: 42,284,529 (GRCm39) |
F852S |
possibly damaging |
Het |
| Tmem179 |
T |
C |
12: 112,469,737 (GRCm39) |
E21G |
probably benign |
Het |
| Usp17la |
T |
A |
7: 104,509,897 (GRCm39) |
H167Q |
probably benign |
Het |
| Vps8 |
A |
T |
16: 21,363,986 (GRCm39) |
|
probably benign |
Het |
| Wdr17 |
A |
G |
8: 55,117,999 (GRCm39) |
|
probably null |
Het |
| Wdr73 |
T |
C |
7: 80,542,969 (GRCm39) |
E213G |
probably benign |
Het |
| Zfp985 |
A |
G |
4: 147,668,536 (GRCm39) |
D468G |
probably benign |
Het |
|
| Other mutations in Psg18 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01458:Psg18
|
APN |
7 |
18,088,741 (GRCm39) |
start codon destroyed |
probably null |
0.99 |
|
IGL01748:Psg18
|
APN |
7 |
18,087,476 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL01767:Psg18
|
APN |
7 |
18,087,322 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
IGL02727:Psg18
|
APN |
7 |
18,079,875 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02744:Psg18
|
APN |
7 |
18,083,327 (GRCm39) |
missense |
probably benign |
0.38 |
|
G1Funyon:Psg18
|
UTSW |
7 |
18,087,302 (GRCm39) |
missense |
probably damaging |
0.99 |
|
PIT4466001:Psg18
|
UTSW |
7 |
18,083,241 (GRCm39) |
missense |
probably benign |
0.30 |
|
R0331:Psg18
|
UTSW |
7 |
18,087,233 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1077:Psg18
|
UTSW |
7 |
18,085,000 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R1171:Psg18
|
UTSW |
7 |
18,080,004 (GRCm39) |
missense |
probably benign |
0.10 |
|
R1173:Psg18
|
UTSW |
7 |
18,088,742 (GRCm39) |
start codon destroyed |
probably null |
0.97 |
|
R1234:Psg18
|
UTSW |
7 |
18,083,115 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1553:Psg18
|
UTSW |
7 |
18,087,406 (GRCm39) |
missense |
probably benign |
0.19 |
|
R1632:Psg18
|
UTSW |
7 |
18,084,824 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2108:Psg18
|
UTSW |
7 |
18,084,799 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2439:Psg18
|
UTSW |
7 |
18,080,044 (GRCm39) |
missense |
probably benign |
0.24 |
|
R3032:Psg18
|
UTSW |
7 |
18,084,904 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3053:Psg18
|
UTSW |
7 |
18,083,118 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3432:Psg18
|
UTSW |
7 |
18,083,096 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R3725:Psg18
|
UTSW |
7 |
18,088,748 (GRCm39) |
start gained |
probably benign |
|
|
R4479:Psg18
|
UTSW |
7 |
18,084,787 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4846:Psg18
|
UTSW |
7 |
18,084,711 (GRCm39) |
nonsense |
probably null |
|
|
R4858:Psg18
|
UTSW |
7 |
18,087,409 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R5010:Psg18
|
UTSW |
7 |
18,083,279 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5225:Psg18
|
UTSW |
7 |
18,079,874 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5450:Psg18
|
UTSW |
7 |
18,087,350 (GRCm39) |
missense |
probably benign |
0.32 |
|
R5526:Psg18
|
UTSW |
7 |
18,083,273 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5840:Psg18
|
UTSW |
7 |
18,080,527 (GRCm39) |
intron |
probably benign |
|
|
R6409:Psg18
|
UTSW |
7 |
18,087,446 (GRCm39) |
missense |
probably benign |
|
|
R7164:Psg18
|
UTSW |
7 |
18,084,862 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7276:Psg18
|
UTSW |
7 |
18,079,909 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7768:Psg18
|
UTSW |
7 |
18,079,953 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8301:Psg18
|
UTSW |
7 |
18,087,302 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8700:Psg18
|
UTSW |
7 |
18,087,550 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8982:Psg18
|
UTSW |
7 |
18,083,300 (GRCm39) |
missense |
probably benign |
0.20 |
|
R9042:Psg18
|
UTSW |
7 |
18,083,047 (GRCm39) |
missense |
probably benign |
0.44 |
|
R9054:Psg18
|
UTSW |
7 |
18,087,450 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R9442:Psg18
|
UTSW |
7 |
18,083,185 (GRCm39) |
nonsense |
probably null |
|
|
R9538:Psg18
|
UTSW |
7 |
18,084,713 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9689:Psg18
|
UTSW |
7 |
18,084,880 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1176:Psg18
|
UTSW |
7 |
18,088,712 (GRCm39) |
missense |
probably benign |
0.07 |
|
Z1177:Psg18
|
UTSW |
7 |
18,083,123 (GRCm39) |
missense |
probably benign |
0.10 |
|
Z1177:Psg18
|
UTSW |
7 |
18,083,040 (GRCm39) |
missense |
probably benign |
0.30 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAGTTGTCAAACCCCAACATG -3'
(R):5'- TGAATTAGTGCCAGCCAGCG -3'
Sequencing Primer
(F):5'- TAGTCACATGCCAGCAGTG -3'
(R):5'- CGTTGCTGCAGGGGGAAG -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation