Incidental Mutation 'R3432:Psg18'
ID |
266236 |
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 |
040650-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.056)
|
Stock # |
R3432 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
18079669-18088963 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 18083096 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 232
(V232A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000096380
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003597]
[ENSMUST00000098783]
|
AlphaFold |
B2RSG7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000003597
AA Change: V353A
PolyPhen 2
Score 0.303 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000003597 Gene: ENSMUSG00000003505 AA Change: V353A
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: V232A
PolyPhen 2
Score 0.606 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000096380 Gene: ENSMUSG00000003505 AA Change: V232A
Domain | Start | End | E-Value | Type |
IG
|
40 |
141 |
1.03e0 |
SMART |
IG
|
160 |
259 |
2.15e-3 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000182983
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183222
|
Meta Mutation Damage Score |
0.3551 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.7%
|
Validation Efficiency |
98% (44/45) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actr3 |
G |
A |
1: 125,321,776 (GRCm39) |
P405S |
probably damaging |
Het |
Adamts3 |
A |
G |
5: 89,855,312 (GRCm39) |
|
probably benign |
Het |
Angptl2 |
T |
C |
2: 33,118,814 (GRCm39) |
V196A |
probably benign |
Het |
Aoc1 |
A |
T |
6: 48,882,778 (GRCm39) |
H240L |
probably damaging |
Het |
Arsj |
A |
T |
3: 126,158,624 (GRCm39) |
T68S |
probably benign |
Het |
Atp8b3 |
T |
C |
10: 80,362,014 (GRCm39) |
K708E |
probably benign |
Het |
Bahd1 |
G |
A |
2: 118,753,004 (GRCm39) |
R757H |
probably damaging |
Het |
Ceacam5 |
T |
A |
7: 17,448,901 (GRCm39) |
V89E |
probably benign |
Het |
Cpt1b |
T |
C |
15: 89,307,944 (GRCm39) |
E205G |
possibly damaging |
Het |
Dhrs7c |
C |
T |
11: 67,700,699 (GRCm39) |
T82I |
probably benign |
Het |
Efs |
C |
T |
14: 55,157,681 (GRCm39) |
R117Q |
probably damaging |
Het |
Evl |
T |
C |
12: 108,614,567 (GRCm39) |
|
probably benign |
Het |
Fam89b |
A |
T |
19: 5,781,761 (GRCm39) |
|
probably null |
Het |
Fbxo16 |
T |
C |
14: 65,531,233 (GRCm39) |
F46L |
probably damaging |
Het |
Glp1r |
T |
A |
17: 31,143,531 (GRCm39) |
L189H |
probably damaging |
Het |
Gstp1 |
G |
A |
19: 4,086,695 (GRCm39) |
T110I |
possibly damaging |
Het |
Hbq1a |
T |
G |
11: 32,250,715 (GRCm39) |
S133A |
probably benign |
Het |
Hhipl1 |
A |
G |
12: 108,277,948 (GRCm39) |
E92G |
probably damaging |
Het |
Il18r1 |
C |
T |
1: 40,526,249 (GRCm39) |
T265M |
probably damaging |
Het |
Lpp |
T |
C |
16: 24,708,636 (GRCm39) |
V447A |
probably benign |
Het |
Mcm2 |
G |
A |
6: 88,869,990 (GRCm39) |
R60C |
probably damaging |
Het |
Mfsd13a |
C |
T |
19: 46,360,431 (GRCm39) |
R328C |
probably damaging |
Het |
Mmel1 |
C |
T |
4: 154,969,955 (GRCm39) |
|
probably benign |
Het |
Myo5c |
A |
G |
9: 75,170,283 (GRCm39) |
E471G |
probably damaging |
Het |
Obscn |
A |
G |
11: 58,922,003 (GRCm39) |
L317P |
probably damaging |
Het |
Or8b57 |
A |
T |
9: 40,003,845 (GRCm39) |
M139K |
probably damaging |
Het |
Ptprt |
T |
C |
2: 161,769,449 (GRCm39) |
E472G |
probably damaging |
Het |
Rap2a |
G |
T |
14: 120,741,170 (GRCm39) |
A158S |
possibly damaging |
Het |
Rbm15 |
A |
T |
3: 107,237,993 (GRCm39) |
S802T |
probably benign |
Het |
Sec14l5 |
A |
G |
16: 4,996,463 (GRCm39) |
I470V |
possibly damaging |
Het |
Serpinb1a |
T |
C |
13: 33,026,842 (GRCm39) |
T367A |
possibly damaging |
Het |
Sirpb1a |
A |
G |
3: 15,491,447 (GRCm39) |
W7R |
probably damaging |
Het |
Slc15a4 |
A |
G |
5: 127,681,600 (GRCm39) |
|
probably null |
Het |
Taf5 |
A |
C |
19: 47,064,272 (GRCm39) |
K405T |
probably damaging |
Het |
Tbc1d19 |
T |
C |
5: 54,005,548 (GRCm39) |
|
probably benign |
Het |
Trim58 |
T |
C |
11: 58,537,787 (GRCm39) |
|
probably benign |
Het |
Tssk4 |
A |
G |
14: 55,889,152 (GRCm39) |
N226S |
probably damaging |
Het |
Uggt1 |
C |
A |
1: 36,249,140 (GRCm39) |
E267* |
probably null |
Het |
Zdhhc23 |
T |
A |
16: 43,794,533 (GRCm39) |
|
probably benign |
Het |
Zfp407 |
G |
A |
18: 84,226,871 (GRCm39) |
A2246V |
probably damaging |
Het |
Zfp872 |
C |
T |
9: 22,111,750 (GRCm39) |
R410* |
probably null |
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 |
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'- TTGGTACAGCCCATGTGTGC -3'
(R):5'- CCATAATCTGCCAGAAGATGTGC -3'
Sequencing Primer
(F):5'- GTGCCCAAATACCAATGTGATG -3'
(R):5'- CCAGAAGATGTGCAAACCTTTTCCTG -3'
|
Posted On |
2015-02-18 |