Incidental Mutation 'R8982:Psg18'
| ID |
683776 |
| 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 |
068815-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.056)
|
| Stock # |
R8982 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
18079669-18088963 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 18083300 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 285
(H285L)
|
| 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: H285L
PolyPhen 2
Score 0.198 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000003597
Gene: ENSMUSG00000003505
AA Change: H285L
| 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 |
possibly damaging
Transcript: ENSMUST00000098783
AA Change: H164L
PolyPhen 2
Score 0.504 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000096380
Gene: ENSMUSG00000003505
AA Change: H164L
| Domain | Start | End | E-Value | Type |
|---|
|
IG
|
40 |
141 |
1.03e0 |
SMART |
|
IG
|
160 |
259 |
2.15e-3 |
SMART |
|
| Predicted Effect |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsl3 |
A |
G |
1: 78,677,485 (GRCm39) |
N493S |
probably benign |
Het |
| Actg2 |
T |
C |
6: 83,497,697 (GRCm39) |
D185G |
probably benign |
Het |
| Alpk3 |
A |
G |
7: 80,748,750 (GRCm39) |
N1439S |
probably damaging |
Het |
| Arid1b |
T |
A |
17: 5,293,316 (GRCm39) |
S745T |
probably damaging |
Het |
| Atxn2l |
CCAGCAGCAGCAGCAGCAGC |
CCAGCAGCAGCAGCAGC |
7: 126,093,420 (GRCm39) |
|
probably benign |
Het |
| C4b |
A |
G |
17: 34,953,338 (GRCm39) |
|
probably null |
Het |
| Cenpc1 |
A |
G |
5: 86,195,533 (GRCm39) |
S79P |
probably damaging |
Het |
| Cep295nl |
A |
T |
11: 118,224,671 (GRCm39) |
W58R |
probably damaging |
Het |
| Ces2f |
T |
A |
8: 105,679,667 (GRCm39) |
C387S |
probably benign |
Het |
| Cfap74 |
G |
A |
4: 155,521,187 (GRCm39) |
E620K |
|
Het |
| Ckap5 |
T |
C |
2: 91,437,923 (GRCm39) |
V1668A |
possibly damaging |
Het |
| Clock |
A |
G |
5: 76,364,559 (GRCm39) |
V852A |
unknown |
Het |
| Col22a1 |
A |
G |
15: 71,845,487 (GRCm39) |
|
probably null |
Het |
| Copb2 |
T |
C |
9: 98,456,164 (GRCm39) |
S233P |
probably damaging |
Het |
| Dnah3 |
T |
C |
7: 119,536,294 (GRCm39) |
Y684C |
probably damaging |
Het |
| Dnah7a |
T |
C |
1: 53,570,301 (GRCm39) |
E1835G |
probably benign |
Het |
| F830045P16Rik |
T |
A |
2: 129,314,812 (GRCm39) |
Q155L |
probably damaging |
Het |
| Fhad1 |
T |
C |
4: 141,729,895 (GRCm39) |
D36G |
probably damaging |
Het |
| Hectd4 |
T |
C |
5: 121,466,305 (GRCm39) |
V2412A |
probably benign |
Het |
| Hoxa13 |
T |
A |
6: 52,235,916 (GRCm39) |
K210* |
probably null |
Het |
| Hoxc5 |
T |
C |
15: 102,923,740 (GRCm39) |
Y179H |
probably damaging |
Het |
| Hrob |
G |
A |
11: 102,146,110 (GRCm39) |
A129T |
probably benign |
Het |
| Htr1d |
A |
T |
4: 136,170,866 (GRCm39) |
Q365L |
possibly damaging |
Het |
| Krt72 |
C |
T |
15: 101,690,059 (GRCm39) |
V253M |
possibly damaging |
Het |
| Mecom |
G |
A |
3: 30,017,255 (GRCm39) |
T470I |
probably damaging |
Het |
| Nefh |
G |
A |
11: 4,897,549 (GRCm39) |
A129V |
probably damaging |
Het |
| Nlrp2 |
T |
A |
7: 5,327,978 (GRCm39) |
I692F |
probably damaging |
Het |
| Nr6a1 |
T |
A |
2: 38,762,613 (GRCm39) |
I61L |
probably benign |
Het |
| Or10aa1 |
T |
G |
1: 173,870,188 (GRCm39) |
V224G |
probably damaging |
Het |
| Or10j2 |
G |
A |
1: 173,098,306 (GRCm39) |
C188Y |
probably damaging |
Het |
| Or5d18 |
A |
T |
2: 87,864,613 (GRCm39) |
I290K |
probably damaging |
Het |
| Pck1 |
T |
C |
2: 172,999,112 (GRCm39) |
V426A |
probably damaging |
Het |
| Pkhd1l1 |
T |
A |
15: 44,387,069 (GRCm39) |
L1314* |
probably null |
Het |
| Pogz |
G |
A |
3: 94,786,879 (GRCm39) |
V1156M |
probably damaging |
Het |
| Pramel23 |
T |
G |
4: 143,424,886 (GRCm39) |
I186L |
probably benign |
Het |
| Prrc2b |
T |
A |
2: 32,102,134 (GRCm39) |
C736S |
probably damaging |
Het |
| Ptprb |
GAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT |
GAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT |
10: 116,119,582 (GRCm39) |
|
probably benign |
Het |
| Ptprk |
A |
T |
10: 28,436,138 (GRCm39) |
D833V |
probably damaging |
Het |
| Rfx6 |
G |
A |
10: 51,599,915 (GRCm39) |
V554M |
probably benign |
Het |
| Rimbp3 |
A |
G |
16: 17,027,511 (GRCm39) |
T312A |
probably benign |
Het |
| Slfn5 |
G |
A |
11: 82,850,966 (GRCm39) |
W421* |
probably null |
Het |
| Srcin1 |
A |
G |
11: 97,426,624 (GRCm39) |
I291T |
probably damaging |
Het |
| Sult3a2 |
T |
C |
10: 33,658,069 (GRCm39) |
N15D |
probably damaging |
Het |
| Tmem179 |
A |
T |
12: 112,468,301 (GRCm39) |
L193Q |
probably damaging |
Het |
| Tmem200b |
T |
A |
4: 131,649,668 (GRCm39) |
L196Q |
probably damaging |
Het |
| Trim71 |
T |
C |
9: 114,342,804 (GRCm39) |
T493A |
possibly damaging |
Het |
| Trp53bp2 |
T |
A |
1: 182,263,001 (GRCm39) |
|
probably null |
Het |
| Zbtb47 |
A |
G |
9: 121,592,334 (GRCm39) |
E218G |
probably benign |
Het |
| Zbtb7c |
G |
A |
18: 76,279,344 (GRCm39) |
G601S |
probably damaging |
Het |
| Zdhhc3 |
A |
G |
9: 122,929,578 (GRCm39) |
L19P |
probably benign |
Het |
| Zfp385b |
G |
T |
2: 77,242,300 (GRCm39) |
T473K |
probably damaging |
Het |
| Zfp804a |
A |
G |
2: 82,066,172 (GRCm39) |
K48E |
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 |
|
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 |
|
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'- GGATCCGTTGGTGTACCCTATC -3'
(R):5'- ACTTCCTCCCGGTGAGATAGAC -3'
Sequencing Primer
(F):5'- GTTGGTGTACCCTATCTCTCTTCTG -3'
(R):5'- ATCCTGGTCTTATAGCACATGGGAC -3'
|
| Posted On |
2021-10-11 |
Incidental Mutation