Incidental Mutation 'R5526:Psg18'
ID |
431850 |
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 |
043084-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.056)
|
Stock # |
R5526 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
18079669-18088963 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 18083273 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Histidine
at position 173
(L173H)
|
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: L294H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000003597 Gene: ENSMUSG00000003505 AA Change: L294H
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: L173H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000096380 Gene: ENSMUSG00000003505 AA Change: L173H
Domain | Start | End | E-Value | Type |
IG
|
40 |
141 |
1.03e0 |
SMART |
IG
|
160 |
259 |
2.15e-3 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000182983
AA Change: L25H
PolyPhen 2
Score 0.833 (Sensitivity: 0.84; Specificity: 0.93)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183222
|
Coding Region Coverage |
- 1x: 98.3%
- 3x: 97.3%
- 10x: 95.2%
- 20x: 90.7%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca12 |
A |
T |
1: 71,331,605 (GRCm39) |
M1315K |
probably benign |
Het |
Abcc4 |
C |
T |
14: 118,868,449 (GRCm39) |
V168I |
probably benign |
Het |
Add3 |
T |
A |
19: 53,215,038 (GRCm39) |
L71Q |
probably damaging |
Het |
Agbl5 |
G |
A |
5: 31,051,247 (GRCm39) |
|
probably null |
Het |
Angpt1 |
A |
G |
15: 42,375,737 (GRCm39) |
L173P |
probably damaging |
Het |
Crls1 |
T |
A |
2: 132,703,165 (GRCm39) |
M205K |
possibly damaging |
Het |
Cspg4b |
T |
C |
13: 113,504,427 (GRCm39) |
V1852A |
probably benign |
Het |
Dhtkd1 |
A |
T |
2: 5,916,662 (GRCm39) |
N671K |
probably damaging |
Het |
Dmbt1 |
A |
T |
7: 130,642,920 (GRCm39) |
D246V |
probably damaging |
Het |
Dolk |
G |
A |
2: 30,175,820 (GRCm39) |
A75V |
probably damaging |
Het |
Dtna |
T |
A |
18: 23,779,287 (GRCm39) |
V623E |
probably damaging |
Het |
Elavl3 |
T |
C |
9: 21,947,622 (GRCm39) |
T106A |
probably benign |
Het |
Ergic1 |
T |
C |
17: 26,843,652 (GRCm39) |
C41R |
probably damaging |
Het |
Fat2 |
T |
A |
11: 55,160,187 (GRCm39) |
I3309F |
possibly damaging |
Het |
Fbn1 |
C |
A |
2: 125,207,559 (GRCm39) |
R978L |
possibly damaging |
Het |
Fzd6 |
A |
T |
15: 38,894,559 (GRCm39) |
S242C |
possibly damaging |
Het |
Galntl6 |
T |
A |
8: 58,926,004 (GRCm39) |
H87L |
probably benign |
Het |
Gatad2a |
T |
C |
8: 70,388,591 (GRCm39) |
E32G |
probably damaging |
Het |
Gemin6 |
T |
G |
17: 80,535,178 (GRCm39) |
V46G |
probably damaging |
Het |
Gm11541 |
G |
T |
11: 94,594,944 (GRCm39) |
H41Q |
unknown |
Het |
Has3 |
A |
G |
8: 107,600,579 (GRCm39) |
T14A |
probably damaging |
Het |
Kmt2b |
A |
G |
7: 30,279,869 (GRCm39) |
L1377P |
probably damaging |
Het |
Lcorl |
T |
C |
5: 45,891,069 (GRCm39) |
N428S |
probably benign |
Het |
Lipo5 |
A |
T |
19: 33,445,284 (GRCm39) |
V95D |
unknown |
Het |
Lrp1 |
A |
T |
10: 127,391,593 (GRCm39) |
V2942D |
probably benign |
Het |
Map1a |
T |
C |
2: 121,136,143 (GRCm39) |
S2082P |
probably damaging |
Het |
Mast4 |
T |
C |
13: 102,890,723 (GRCm39) |
S852G |
possibly damaging |
Het |
Mlh3 |
A |
T |
12: 85,316,147 (GRCm39) |
L13* |
probably null |
Het |
Ncam2 |
C |
T |
16: 81,231,766 (GRCm39) |
R77* |
probably null |
Het |
Nlrp9c |
T |
A |
7: 26,081,791 (GRCm39) |
N645I |
possibly damaging |
Het |
Or12d17 |
T |
A |
17: 37,778,003 (GRCm39) |
L302Q |
unknown |
Het |
Or12e7 |
T |
C |
2: 87,288,109 (GRCm39) |
I200T |
probably benign |
Het |
Or14j7 |
T |
A |
17: 38,235,383 (GRCm39) |
*309K |
probably null |
Het |
Or7e166 |
C |
A |
9: 19,624,994 (GRCm39) |
Y290* |
probably null |
Het |
Or8g52 |
A |
T |
9: 39,630,892 (GRCm39) |
Y123F |
possibly damaging |
Het |
Pex12 |
A |
G |
11: 83,187,090 (GRCm39) |
V286A |
possibly damaging |
Het |
Phax |
C |
T |
18: 56,717,382 (GRCm39) |
T275I |
probably damaging |
Het |
Phf21b |
A |
G |
15: 84,676,006 (GRCm39) |
V335A |
probably benign |
Het |
Rab3ip |
T |
C |
10: 116,754,834 (GRCm39) |
T209A |
possibly damaging |
Het |
Ralgapb |
T |
C |
2: 158,274,705 (GRCm39) |
V202A |
probably damaging |
Het |
Rpn2 |
T |
C |
2: 157,165,187 (GRCm39) |
L611P |
probably damaging |
Het |
Runx2 |
T |
G |
17: 45,035,749 (GRCm39) |
T148P |
probably damaging |
Het |
Sbpl |
C |
A |
17: 24,173,623 (GRCm39) |
D50Y |
probably damaging |
Het |
Scn5a |
G |
A |
9: 119,350,237 (GRCm39) |
P879L |
probably damaging |
Het |
Sfn |
T |
C |
4: 133,328,915 (GRCm39) |
R56G |
probably damaging |
Het |
Spata31g1 |
T |
C |
4: 42,972,125 (GRCm39) |
V486A |
possibly damaging |
Het |
Tas2r138 |
C |
T |
6: 40,589,914 (GRCm39) |
A111T |
probably benign |
Het |
Tasp1 |
A |
T |
2: 139,850,709 (GRCm39) |
S105T |
probably damaging |
Het |
Tmem225 |
T |
G |
9: 40,062,002 (GRCm39) |
H205Q |
possibly damaging |
Het |
Tmprss7 |
A |
G |
16: 45,481,267 (GRCm39) |
S640P |
probably damaging |
Het |
Utp4 |
G |
A |
8: 107,644,265 (GRCm39) |
A535T |
possibly damaging |
Het |
Vmn1r203 |
A |
T |
13: 22,708,273 (GRCm39) |
D18V |
probably benign |
Het |
Vmn2r58 |
A |
G |
7: 41,522,069 (GRCm39) |
L9P |
probably benign |
Het |
Zcchc2 |
T |
A |
1: 105,957,984 (GRCm39) |
C420* |
probably null |
Het |
Zfp804a |
A |
G |
2: 82,088,934 (GRCm39) |
D921G |
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 |
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 |
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'- TGTGCTGTTACAACTCTCACATTG -3'
(R):5'- TCAGAATGCAGGTCACCATC -3'
Sequencing Primer
(F):5'- AAGCCAGAGTCTTTCTCAGTGAC -3'
(R):5'- AGAATGCAGGTCACCATCTTTCC -3'
|
Posted On |
2016-10-05 |