Incidental Mutation 'PIT4466001:Psg18'
ID |
555780 |
Institutional Source |
Beutler Lab
|
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 # |
PIT4466001 (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 G
at 18083241 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Proline
at position 305
(T305P)
|
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: T305P
PolyPhen 2
Score 0.304 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000003597 Gene: ENSMUSG00000003505 AA Change: T305P
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: T184P
PolyPhen 2
Score 0.814 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000096380 Gene: ENSMUSG00000003505 AA Change: T184P
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: 93.5%
- 3x: 90.9%
- 10x: 85.1%
- 20x: 72.5%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A4gnt |
C |
A |
9: 99,502,613 (GRCm39) |
P258T |
probably damaging |
Het |
Adamts1 |
C |
A |
16: 85,593,579 (GRCm39) |
G719* |
probably null |
Het |
Ano5 |
G |
T |
7: 51,194,599 (GRCm39) |
D111Y |
probably damaging |
Het |
Arvcf |
T |
C |
16: 18,221,699 (GRCm39) |
V714A |
possibly damaging |
Het |
AU021092 |
T |
A |
16: 5,038,253 (GRCm39) |
S85C |
probably damaging |
Het |
Capn5 |
T |
C |
7: 97,773,195 (GRCm39) |
D603G |
probably benign |
Het |
Cbr1 |
T |
A |
16: 93,406,692 (GRCm39) |
V136E |
probably damaging |
Het |
Ccdc27 |
T |
C |
4: 154,126,184 (GRCm39) |
M102V |
unknown |
Het |
Ccr1 |
T |
C |
9: 123,763,765 (GRCm39) |
Y255C |
probably damaging |
Het |
Cdr1 |
AAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCC |
AAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCC |
X: 60,228,130 (GRCm39) |
|
probably benign |
Het |
Cep112 |
A |
G |
11: 108,410,722 (GRCm39) |
T553A |
probably benign |
Het |
Chd7 |
C |
T |
4: 8,753,101 (GRCm39) |
L533F |
unknown |
Het |
Cntnap1 |
T |
C |
11: 101,068,131 (GRCm39) |
F48L |
probably benign |
Het |
Cyb5r3 |
T |
C |
15: 83,046,064 (GRCm39) |
D84G |
probably damaging |
Het |
Ddx47 |
T |
C |
6: 134,992,803 (GRCm39) |
I154T |
probably benign |
Het |
Dennd2b |
G |
A |
7: 109,130,337 (GRCm39) |
A888V |
probably damaging |
Het |
Dnah6 |
A |
G |
6: 73,185,624 (GRCm39) |
L99P |
probably benign |
Het |
Dzank1 |
A |
G |
2: 144,325,293 (GRCm39) |
I558T |
probably benign |
Het |
Fbn1 |
T |
C |
2: 125,148,421 (GRCm39) |
D2609G |
possibly damaging |
Het |
Fhl5 |
C |
A |
4: 25,211,194 (GRCm39) |
C166F |
probably damaging |
Het |
Fndc1 |
A |
G |
17: 7,969,206 (GRCm39) |
L1553P |
probably damaging |
Het |
Frem1 |
G |
A |
4: 82,890,374 (GRCm39) |
T1035I |
probably benign |
Het |
Gm3099 |
A |
G |
14: 15,346,517 (GRCm39) |
M128V |
probably benign |
Het |
Gpaa1 |
C |
T |
15: 76,218,940 (GRCm39) |
T594I |
probably benign |
Het |
Hck |
C |
T |
2: 152,966,191 (GRCm39) |
T55M |
probably damaging |
Het |
Hectd4 |
T |
C |
5: 121,471,123 (GRCm39) |
|
probably null |
Het |
Ica1l |
C |
T |
1: 60,054,995 (GRCm39) |
|
probably null |
Het |
Ilf3 |
T |
C |
9: 21,314,662 (GRCm39) |
Y765H |
unknown |
Het |
Mast4 |
G |
A |
13: 102,941,226 (GRCm39) |
T277M |
probably damaging |
Het |
Mfsd6 |
T |
C |
1: 52,748,056 (GRCm39) |
T270A |
probably benign |
Het |
Mib1 |
G |
A |
18: 10,775,541 (GRCm39) |
D498N |
probably benign |
Het |
Naaladl1 |
A |
T |
19: 6,164,663 (GRCm39) |
T576S |
possibly damaging |
Het |
Ncoa6 |
A |
T |
2: 155,247,577 (GRCm39) |
I1909N |
probably benign |
Het |
Negr1 |
A |
G |
3: 156,565,235 (GRCm39) |
D107G |
probably benign |
Het |
Nlrc4 |
A |
G |
17: 74,734,114 (GRCm39) |
M933T |
probably benign |
Het |
Nmnat3 |
T |
G |
9: 98,292,306 (GRCm39) |
F184V |
probably benign |
Het |
Or4b12 |
A |
T |
2: 90,096,639 (GRCm39) |
V45E |
probably damaging |
Het |
Or5p81 |
T |
C |
7: 108,266,743 (GRCm39) |
V40A |
possibly damaging |
Het |
Or6c76 |
C |
T |
10: 129,612,142 (GRCm39) |
R120C |
probably benign |
Het |
Or7a42 |
C |
A |
10: 78,791,676 (GRCm39) |
F212L |
probably benign |
Het |
Pfkfb4 |
T |
C |
9: 108,828,222 (GRCm39) |
Y86H |
probably benign |
Het |
Pgm5 |
T |
G |
19: 24,801,693 (GRCm39) |
Q178H |
probably damaging |
Het |
Phrf1 |
C |
T |
7: 140,838,725 (GRCm39) |
T640M |
unknown |
Het |
Pramel34 |
A |
C |
5: 93,784,147 (GRCm39) |
L439R |
probably damaging |
Het |
Skil |
T |
A |
3: 31,152,381 (GRCm39) |
V301D |
probably damaging |
Het |
Slc36a1 |
C |
A |
11: 55,109,895 (GRCm39) |
P68T |
probably damaging |
Het |
Smim6 |
T |
C |
11: 115,804,371 (GRCm39) |
F53L |
probably benign |
Het |
Tpgs2 |
G |
A |
18: 25,301,652 (GRCm39) |
T5M |
possibly damaging |
Het |
Trrap |
T |
A |
5: 144,765,410 (GRCm39) |
V2523D |
probably benign |
Het |
Usp9y |
A |
T |
Y: 1,432,197 (GRCm39) |
D429E |
probably damaging |
Het |
Vmn1r125 |
A |
G |
7: 21,006,818 (GRCm39) |
T239A |
probably benign |
Het |
Vmn1r168 |
T |
C |
7: 23,240,421 (GRCm39) |
F93L |
probably damaging |
Het |
Vmn1r88 |
A |
G |
7: 12,912,403 (GRCm39) |
N253S |
possibly damaging |
Het |
Zfp644 |
C |
T |
5: 106,784,343 (GRCm39) |
A735T |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GCTGTTACAACTCTCACATTGC -3'
(R):5'- GCAGGTCACCATCTTTCCAC -3'
Sequencing Primer
(F):5'- GTTATTAGTGTGTATAAGCCAGAGTC -3'
(R):5'- ACCTAGCACAATGATCCCTTCTG -3'
|
Posted On |
2019-06-07 |