Incidental Mutation 'R3053:Psg18'
| ID |
265032 |
| 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 |
040562-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.056)
|
| Stock # |
R3053 (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 18083118 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Arginine
at position 225
(G225R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000096380
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003597]
[ENSMUST00000098783]
|
| AlphaFold |
B2RSG7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000003597
AA Change: G346R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000003597
Gene: ENSMUSG00000003505
AA Change: G346R
| 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 damaging
Transcript: ENSMUST00000098783
AA Change: G225R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000096380
Gene: ENSMUSG00000003505
AA Change: G225R
| 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 |
0.6467 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
| Validation Efficiency |
100% (37/37) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy5 |
T |
C |
16: 35,124,086 (GRCm39) |
L1255P |
probably damaging |
Het |
| Agl |
T |
A |
3: 116,584,682 (GRCm39) |
I213F |
probably damaging |
Het |
| Arap2 |
A |
G |
5: 62,906,200 (GRCm39) |
V273A |
probably benign |
Het |
| Asb18 |
T |
A |
1: 89,920,707 (GRCm39) |
H149L |
probably damaging |
Het |
| Axdnd1 |
T |
C |
1: 156,169,440 (GRCm39) |
T809A |
probably damaging |
Het |
| Bcl11b |
T |
C |
12: 107,882,260 (GRCm39) |
E613G |
probably benign |
Het |
| Cibar1 |
G |
C |
4: 12,157,767 (GRCm39) |
|
probably null |
Het |
| Cldn8 |
A |
C |
16: 88,359,619 (GRCm39) |
M102R |
probably damaging |
Het |
| Cyp2a5 |
A |
G |
7: 26,542,410 (GRCm39) |
I471V |
possibly damaging |
Het |
| Dmtf1 |
G |
T |
5: 9,179,316 (GRCm39) |
T206K |
probably damaging |
Het |
| Dner |
G |
T |
1: 84,361,747 (GRCm39) |
Q621K |
probably damaging |
Het |
| Gmppa |
A |
G |
1: 75,418,400 (GRCm39) |
Y261C |
probably benign |
Het |
| Lama5 |
C |
T |
2: 179,824,860 (GRCm39) |
R2519K |
probably damaging |
Het |
| Mical2 |
G |
T |
7: 111,910,630 (GRCm39) |
A267S |
probably damaging |
Het |
| Nrxn3 |
A |
T |
12: 89,221,871 (GRCm39) |
D550V |
probably damaging |
Het |
| Or1n1 |
T |
A |
2: 36,749,959 (GRCm39) |
M134L |
probably benign |
Het |
| Pole |
A |
T |
5: 110,437,661 (GRCm39) |
D73V |
probably damaging |
Het |
| Ppm1b |
G |
A |
17: 85,321,274 (GRCm39) |
R472K |
probably benign |
Het |
| Ppm1m |
A |
G |
9: 106,075,874 (GRCm39) |
I18T |
probably benign |
Het |
| R3hcc1l |
T |
G |
19: 42,551,064 (GRCm39) |
Y20* |
probably null |
Het |
| Rapgef1 |
T |
C |
2: 29,614,868 (GRCm39) |
I817T |
probably damaging |
Het |
| Rasal3 |
T |
C |
17: 32,622,413 (GRCm39) |
E4G |
probably benign |
Het |
| Ryr1 |
A |
T |
7: 28,752,515 (GRCm39) |
V3598E |
probably damaging |
Het |
| Slc15a4 |
A |
T |
5: 127,673,746 (GRCm39) |
V556E |
possibly damaging |
Het |
| Spats2l |
A |
G |
1: 57,939,925 (GRCm39) |
K193R |
probably damaging |
Het |
| Tacc2 |
G |
A |
7: 130,227,226 (GRCm39) |
E1323K |
possibly damaging |
Het |
| Tbc1d21 |
T |
A |
9: 58,270,352 (GRCm39) |
D141V |
probably damaging |
Het |
| Tedc1 |
G |
T |
12: 113,120,087 (GRCm39) |
|
probably benign |
Het |
| Terf2 |
A |
C |
8: 107,806,016 (GRCm39) |
L312R |
possibly damaging |
Het |
| Tmem132d |
A |
C |
5: 127,869,538 (GRCm39) |
S599A |
probably benign |
Het |
| Trp53bp2 |
T |
C |
1: 182,281,347 (GRCm39) |
F983L |
probably damaging |
Het |
| Ubxn2a |
T |
A |
12: 4,941,322 (GRCm39) |
K95* |
probably null |
Het |
| Ugt2a2 |
A |
T |
5: 87,622,328 (GRCm39) |
N213K |
probably damaging |
Het |
| Xpo6 |
T |
C |
7: 125,703,893 (GRCm39) |
N1086D |
probably damaging |
Het |
| Zbed5 |
A |
T |
5: 129,930,987 (GRCm39) |
H312L |
possibly damaging |
Het |
| Zfp729b |
A |
G |
13: 67,741,585 (GRCm39) |
Y227H |
probably damaging |
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 |
|
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 |
|
R4480: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'- TTGGTACAGCCCATGTGTGC -3'
(R):5'- GGAAGTGTTCTTCTCCAGGTCC -3'
Sequencing Primer
(F):5'- GTGCCCAAATACCAATGTGATG -3'
(R):5'- GTCCATAATCTGCCAGAAGATGTGC -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation