Incidental Mutation 'R8372:Psg16'
| ID |
646488 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Psg16
|
| Ensembl Gene |
ENSMUSG00000066760 |
| Gene Name |
pregnancy specific beta-1-glycoprotein 16 |
| Synonyms |
bCEA, Cea11 |
| MMRRC Submission |
067875-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8372 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
16807965-16867375 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 16829240 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 275
(T275A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000071348
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071399]
[ENSMUST00000118367]
[ENSMUST00000152671]
|
| AlphaFold |
Q8K0U8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000071399
AA Change: T275A
PolyPhen 2
Score 0.105 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000071348
Gene: ENSMUSG00000066760
AA Change: T275A
| Domain | Start | End | E-Value | Type |
|---|
|
IG_like
|
6 |
52 |
1.42e2 |
SMART |
|
IG
|
71 |
172 |
1.21e-2 |
SMART |
|
IG
|
191 |
292 |
2.56e-1 |
SMART |
|
IG_like
|
302 |
395 |
5.13e0 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000118367
AA Change: T275A
PolyPhen 2
Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000113025
Gene: ENSMUSG00000066760
AA Change: T275A
| Domain | Start | End | E-Value | Type |
|---|
|
IG_like
|
6 |
52 |
1.42e2 |
SMART |
|
IG
|
71 |
172 |
1.21e-2 |
SMART |
|
IG
|
191 |
292 |
2.56e-1 |
SMART |
|
IGc2
|
308 |
372 |
3.56e-9 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000152671
|
| SMART Domains |
Protein: ENSMUSP00000118977
Gene: ENSMUSG00000066760
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
24 |
40 |
N/A |
INTRINSIC |
|
IG
|
46 |
143 |
4.29e-3 |
SMART |
|
IG
|
162 |
261 |
2.94e-1 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930562C15Rik |
A |
G |
16: 4,682,152 (GRCm39) |
D155G |
probably damaging |
Het |
| Adgrg7 |
T |
A |
16: 56,616,114 (GRCm39) |
|
probably benign |
Het |
| Agap2 |
T |
C |
10: 126,925,185 (GRCm39) |
S833P |
unknown |
Het |
| B4galnt2 |
T |
C |
11: 95,760,106 (GRCm39) |
E307G |
possibly damaging |
Het |
| Bcl9l |
A |
G |
9: 44,418,528 (GRCm39) |
M826V |
probably benign |
Het |
| C2cd3 |
C |
T |
7: 100,104,487 (GRCm39) |
Q2167* |
probably null |
Het |
| Ccdc7a |
T |
C |
8: 129,547,585 (GRCm39) |
E1289G |
possibly damaging |
Het |
| Cep290 |
T |
C |
10: 100,385,203 (GRCm39) |
V1893A |
probably benign |
Het |
| Clec4g |
T |
C |
8: 3,757,990 (GRCm39) |
|
probably benign |
Het |
| Cspg4 |
A |
G |
9: 56,794,479 (GRCm39) |
E738G |
probably damaging |
Het |
| Cyth4 |
A |
G |
15: 78,481,335 (GRCm39) |
|
probably benign |
Het |
| Dab2 |
A |
C |
15: 6,446,406 (GRCm39) |
S8R |
possibly damaging |
Het |
| Dclk3 |
A |
G |
9: 111,314,081 (GRCm39) |
D719G |
probably damaging |
Het |
| Dync2h1 |
A |
G |
9: 7,111,514 (GRCm39) |
V2540A |
possibly damaging |
Het |
| Elavl1 |
T |
C |
8: 4,339,664 (GRCm39) |
N306S |
probably damaging |
Het |
| Ercc6l2 |
T |
C |
13: 64,001,563 (GRCm39) |
V459A |
probably damaging |
Het |
| Fcgr2b |
A |
G |
1: 170,793,330 (GRCm39) |
V233A |
probably benign |
Het |
| Gfm2 |
T |
C |
13: 97,301,552 (GRCm39) |
S452P |
possibly damaging |
Het |
| Gpr15 |
A |
G |
16: 58,538,850 (GRCm39) |
F80L |
probably benign |
Het |
| Ighv13-2 |
A |
T |
12: 114,321,681 (GRCm39) |
C19* |
probably null |
Het |
| Kcnq5 |
G |
A |
1: 21,549,648 (GRCm39) |
R360C |
probably damaging |
Het |
| Klhl33 |
C |
T |
14: 51,129,689 (GRCm39) |
R312Q |
probably damaging |
Het |
| Klhl9 |
A |
G |
4: 88,639,596 (GRCm39) |
L215P |
probably damaging |
Het |
| Krtap20-1 |
G |
C |
16: 88,812,385 (GRCm39) |
G57R |
unknown |
Het |
| Or9k2b |
A |
G |
10: 130,016,656 (GRCm39) |
F31S |
probably damaging |
Het |
| Parp8 |
T |
A |
13: 116,991,786 (GRCm39) |
Q872H |
probably damaging |
Het |
| Plxnb2 |
A |
G |
15: 89,042,696 (GRCm39) |
S1531P |
probably damaging |
Het |
| Ptprk |
A |
G |
10: 28,230,688 (GRCm39) |
T260A |
possibly damaging |
Het |
| Rapgef1 |
G |
A |
2: 29,600,243 (GRCm39) |
G655S |
probably damaging |
Het |
| Rbm15b |
T |
C |
9: 106,762,762 (GRCm39) |
M19V |
|
Het |
| Rbm42 |
A |
G |
7: 30,340,631 (GRCm39) |
S447P |
unknown |
Het |
| Rsf1 |
T |
C |
7: 97,311,624 (GRCm39) |
S785P |
|
Het |
| Scnn1a |
A |
G |
6: 125,320,681 (GRCm39) |
N578S |
probably damaging |
Het |
| Slc39a7 |
T |
C |
17: 34,249,639 (GRCm39) |
N169D |
probably damaging |
Het |
| Spp1 |
A |
G |
5: 104,588,122 (GRCm39) |
T175A |
probably benign |
Het |
| Tigd5 |
A |
G |
15: 75,782,337 (GRCm39) |
H233R |
probably benign |
Het |
| Tmprss3 |
C |
T |
17: 31,403,671 (GRCm39) |
V377I |
probably benign |
Het |
| Vmn1r75 |
A |
T |
7: 11,614,657 (GRCm39) |
I130F |
probably benign |
Het |
| Xpo4 |
A |
G |
14: 57,835,341 (GRCm39) |
|
probably null |
Het |
| Xrn1 |
A |
G |
9: 95,906,166 (GRCm39) |
T1186A |
probably benign |
Het |
| Zcchc4 |
T |
C |
5: 52,953,506 (GRCm39) |
Y172H |
probably damaging |
Het |
|
| Other mutations in Psg16 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01993:Psg16
|
APN |
7 |
16,827,631 (GRCm39) |
missense |
probably benign |
0.08 |
|
IGL02258:Psg16
|
APN |
7 |
16,829,217 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0379:Psg16
|
UTSW |
7 |
16,864,583 (GRCm39) |
missense |
probably benign |
0.09 |
|
R0389:Psg16
|
UTSW |
7 |
16,829,088 (GRCm39) |
missense |
probably benign |
|
|
R0443:Psg16
|
UTSW |
7 |
16,829,088 (GRCm39) |
missense |
probably benign |
|
|
R1231:Psg16
|
UTSW |
7 |
16,829,230 (GRCm39) |
nonsense |
probably null |
|
|
R1594:Psg16
|
UTSW |
7 |
16,827,748 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2064:Psg16
|
UTSW |
7 |
16,827,673 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R2118:Psg16
|
UTSW |
7 |
16,824,548 (GRCm39) |
missense |
probably benign |
0.33 |
|
R3806:Psg16
|
UTSW |
7 |
16,824,609 (GRCm39) |
missense |
probably benign |
0.24 |
|
R4397:Psg16
|
UTSW |
7 |
16,824,623 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R4583:Psg16
|
UTSW |
7 |
16,829,097 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4685:Psg16
|
UTSW |
7 |
16,824,459 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4929:Psg16
|
UTSW |
7 |
16,829,031 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R5310:Psg16
|
UTSW |
7 |
16,824,560 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6106:Psg16
|
UTSW |
7 |
16,829,091 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R6320:Psg16
|
UTSW |
7 |
16,822,112 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6702:Psg16
|
UTSW |
7 |
16,824,321 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6703:Psg16
|
UTSW |
7 |
16,824,321 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7329:Psg16
|
UTSW |
7 |
16,824,611 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R7679:Psg16
|
UTSW |
7 |
16,827,685 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8292:Psg16
|
UTSW |
7 |
16,827,701 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8491:Psg16
|
UTSW |
7 |
16,824,437 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8796:Psg16
|
UTSW |
7 |
16,827,814 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R9131:Psg16
|
UTSW |
7 |
16,832,024 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9437:Psg16
|
UTSW |
7 |
16,827,715 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9659:Psg16
|
UTSW |
7 |
16,824,524 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R9746:Psg16
|
UTSW |
7 |
16,832,086 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9788:Psg16
|
UTSW |
7 |
16,824,524 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTGGTACAAAGGAGCATTGATC -3'
(R):5'- GGGGACAGGATCTGATCTAATGC -3'
Sequencing Primer
(F):5'- CAAAGGAGCATTGATCTTCCAG -3'
(R):5'- AGGTATGCCCTGCAGTAAATGC -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation