Incidental Mutation 'IGL01458:Psg18'
| ID |
84862 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Psg18
|
| Ensembl Gene |
ENSMUSG00000003505 |
| Gene Name |
pregnancy specific beta-1-glycoprotein 18 |
| Synonyms |
Cea-3, mmCGM6, Cea3 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.054)
|
| Stock # |
IGL01458
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
18079669-18088963 bp(-) (GRCm39) |
| Type of Mutation |
start codon destroyed |
| DNA Base Change (assembly) |
A to T
at 18088741 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 1
(M1K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000003597
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003597]
[ENSMUST00000098783]
|
| AlphaFold |
B2RSG7 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000003597
AA Change: M1K
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000003597
Gene: ENSMUSG00000003505
AA Change: M1K
| 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 null
Transcript: ENSMUST00000098783
AA Change: M1K
PolyPhen 2
Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000096380
Gene: ENSMUSG00000003505
AA Change: M1K
| Domain | Start | End | E-Value | Type |
|---|
|
IG
|
40 |
141 |
1.03e0 |
SMART |
|
IG
|
160 |
259 |
2.15e-3 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930433N12Rik |
A |
T |
9: 3,134,008 (GRCm39) |
|
noncoding transcript |
Het |
| Akap12 |
A |
G |
10: 4,304,060 (GRCm39) |
E290G |
probably damaging |
Het |
| Akap6 |
T |
A |
12: 52,933,601 (GRCm39) |
C364* |
probably null |
Het |
| Akr1c18 |
A |
T |
13: 4,187,143 (GRCm39) |
Y198N |
probably damaging |
Het |
| Aurka |
T |
C |
2: 172,210,899 (GRCm39) |
|
probably benign |
Het |
| Bloc1s6 |
T |
A |
2: 122,586,135 (GRCm39) |
|
probably null |
Het |
| Clca3a1 |
C |
T |
3: 144,713,539 (GRCm39) |
M697I |
probably benign |
Het |
| Csn2 |
T |
C |
5: 87,843,879 (GRCm39) |
|
probably benign |
Het |
| Dsc1 |
T |
C |
18: 20,232,195 (GRCm39) |
E271G |
probably damaging |
Het |
| Eif1ad4 |
A |
T |
12: 87,862,158 (GRCm39) |
K7* |
probably null |
Het |
| Evi5 |
G |
A |
5: 107,963,513 (GRCm39) |
A354V |
probably damaging |
Het |
| Fcer2a |
T |
A |
8: 3,738,151 (GRCm39) |
R137S |
probably benign |
Het |
| Fto |
A |
G |
8: 92,168,344 (GRCm39) |
T266A |
probably benign |
Het |
| Fzd4 |
G |
A |
7: 89,053,943 (GRCm39) |
V17I |
unknown |
Het |
| Gadd45b |
T |
C |
10: 80,767,075 (GRCm39) |
L105P |
probably damaging |
Het |
| Galntl6 |
T |
C |
8: 58,880,743 (GRCm39) |
S137G |
probably damaging |
Het |
| Gpr135 |
T |
C |
12: 72,116,442 (GRCm39) |
M442V |
probably benign |
Het |
| Kcnq1 |
T |
A |
7: 142,748,015 (GRCm39) |
Y330* |
probably null |
Het |
| Kdm5b |
A |
G |
1: 134,549,724 (GRCm39) |
R1106G |
possibly damaging |
Het |
| Lrrc8e |
C |
T |
8: 4,286,141 (GRCm39) |
R789W |
probably damaging |
Het |
| Myo16 |
T |
C |
8: 10,485,853 (GRCm39) |
L644P |
probably damaging |
Het |
| Nbeal1 |
G |
T |
1: 60,281,784 (GRCm39) |
|
probably null |
Het |
| Nlrp4c |
T |
C |
7: 6,103,783 (GRCm39) |
C906R |
possibly damaging |
Het |
| Or10ag56 |
C |
T |
2: 87,139,826 (GRCm39) |
T251I |
probably damaging |
Het |
| Or1e29 |
A |
T |
11: 73,667,532 (GRCm39) |
I207N |
probably benign |
Het |
| Or1j15 |
T |
A |
2: 36,458,754 (GRCm39) |
L48H |
probably damaging |
Het |
| Ovgp1 |
A |
G |
3: 105,882,307 (GRCm39) |
N70D |
probably benign |
Het |
| Panx3 |
A |
T |
9: 37,572,443 (GRCm39) |
M369K |
probably damaging |
Het |
| Plet1 |
A |
G |
9: 50,406,017 (GRCm39) |
N52S |
probably benign |
Het |
| Prss1l |
T |
G |
6: 41,373,621 (GRCm39) |
D161E |
probably benign |
Het |
| Ptprz1 |
A |
T |
6: 22,972,843 (GRCm39) |
D251V |
probably damaging |
Het |
| Serpinb6a |
A |
G |
13: 34,114,064 (GRCm39) |
Y88H |
possibly damaging |
Het |
| Siglecf |
G |
A |
7: 43,004,562 (GRCm39) |
R297Q |
possibly damaging |
Het |
| Tbx15 |
T |
C |
3: 99,223,544 (GRCm39) |
V244A |
probably damaging |
Het |
| Top2a |
A |
T |
11: 98,901,856 (GRCm39) |
L458Q |
probably damaging |
Het |
| Trim39 |
A |
G |
17: 36,574,855 (GRCm39) |
|
probably benign |
Het |
| Vps37c |
T |
C |
19: 10,687,781 (GRCm39) |
C81R |
probably damaging |
Het |
| Wdr62 |
A |
T |
7: 29,941,187 (GRCm39) |
S744T |
probably benign |
Het |
| Zyg11a |
G |
A |
4: 108,062,099 (GRCm39) |
T234I |
probably damaging |
Het |
|
| Other mutations in Psg18 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
|
| Posted On |
2013-11-11 |
Incidental Mutation