Incidental Mutation 'IGL02744:Psg18'
| ID |
305997 |
| 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: 0.056)
|
| Stock # |
IGL02744
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
18079669-18088963 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 18083327 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 276
(Q276L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000003597
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003597]
[ENSMUST00000098783]
|
| AlphaFold |
B2RSG7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000003597
AA Change: Q276L
PolyPhen 2
Score 0.375 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000003597
Gene: ENSMUSG00000003505
AA Change: Q276L
| 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: Q155L
PolyPhen 2
Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000096380
Gene: ENSMUSG00000003505
AA Change: Q155L
| Domain | Start | End | E-Value | Type |
|---|
|
IG
|
40 |
141 |
1.03e0 |
SMART |
|
IG
|
160 |
259 |
2.15e-3 |
SMART |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000182983
AA Change: Q7L
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183222
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930564D02Rik |
A |
G |
3: 104,985,852 (GRCm39) |
M89V |
unknown |
Het |
| Actl11 |
C |
A |
9: 107,807,061 (GRCm39) |
H461Q |
probably benign |
Het |
| Aoc1l1 |
A |
G |
6: 48,952,249 (GRCm39) |
E58G |
probably benign |
Het |
| Aox4 |
A |
T |
1: 58,294,711 (GRCm39) |
R973S |
possibly damaging |
Het |
| Arhgef10 |
C |
T |
8: 14,980,198 (GRCm39) |
A146V |
probably benign |
Het |
| Cep350 |
A |
T |
1: 155,807,279 (GRCm39) |
S713T |
probably damaging |
Het |
| Epha5 |
T |
C |
5: 84,255,848 (GRCm39) |
I458V |
probably benign |
Het |
| Galnt17 |
A |
G |
5: 131,140,613 (GRCm39) |
I168T |
probably damaging |
Het |
| Gli3 |
T |
C |
13: 15,788,471 (GRCm39) |
|
probably null |
Het |
| Gm11110 |
T |
A |
17: 57,399,693 (GRCm39) |
|
probably benign |
Het |
| Gm8206 |
T |
C |
14: 6,022,488 (GRCm38) |
I4V |
possibly damaging |
Het |
| Golga1 |
A |
G |
2: 38,908,486 (GRCm39) |
S713P |
probably damaging |
Het |
| Ing5 |
T |
C |
1: 93,744,210 (GRCm39) |
M172T |
probably damaging |
Het |
| Lyn |
A |
G |
4: 3,738,808 (GRCm39) |
T27A |
probably benign |
Het |
| Or2b28 |
A |
G |
13: 21,531,164 (GRCm39) |
Y22C |
probably damaging |
Het |
| Pou5f1 |
T |
C |
17: 35,820,311 (GRCm39) |
V40A |
probably damaging |
Het |
| Pramel13 |
A |
T |
4: 144,119,493 (GRCm39) |
L358Q |
probably damaging |
Het |
| Prdm16 |
A |
G |
4: 154,429,910 (GRCm39) |
L353P |
probably damaging |
Het |
| Ralgapb |
A |
C |
2: 158,288,071 (GRCm39) |
Q369H |
probably damaging |
Het |
| Slc44a4 |
A |
G |
17: 35,146,776 (GRCm39) |
N300D |
probably damaging |
Het |
| Slc6a15 |
A |
T |
10: 103,253,894 (GRCm39) |
E610V |
probably benign |
Het |
| Slc8a2 |
T |
C |
7: 15,878,954 (GRCm39) |
V480A |
possibly damaging |
Het |
| Speer1j |
C |
T |
5: 11,555,340 (GRCm39) |
T103I |
possibly damaging |
Het |
| Spg7 |
T |
C |
8: 123,820,400 (GRCm39) |
F617S |
probably damaging |
Het |
| Srcap |
A |
G |
7: 127,133,838 (GRCm39) |
D863G |
probably damaging |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| Suox |
T |
C |
10: 128,507,086 (GRCm39) |
E314G |
probably benign |
Het |
| Tln2 |
T |
A |
9: 67,136,658 (GRCm39) |
K1276* |
probably null |
Het |
| Tmem72 |
A |
G |
6: 116,672,451 (GRCm39) |
L130P |
probably damaging |
Het |
| Ttll1 |
T |
C |
15: 83,373,778 (GRCm39) |
Y345C |
probably benign |
Het |
| Ush2a |
A |
T |
1: 188,090,914 (GRCm39) |
|
probably null |
Het |
| Xpo6 |
G |
A |
7: 125,707,620 (GRCm39) |
|
probably benign |
Het |
| Zc3h14 |
A |
T |
12: 98,751,234 (GRCm39) |
Y512F |
possibly damaging |
Het |
| Zfp438 |
A |
T |
18: 5,214,760 (GRCm39) |
M66K |
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 |
|
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 |
2015-04-16 |
Incidental Mutation