Incidental Mutation 'R6106:Psg16'
| ID |
485507 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Psg16
|
| Ensembl Gene |
ENSMUSG00000066760 |
| Gene Name |
pregnancy specific beta-1-glycoprotein 16 |
| Synonyms |
bCEA, Cea11 |
| MMRRC Submission |
044256-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6106 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
16807965-16867375 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 16829091 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Tyrosine
at position 225
(F225Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113025
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071399]
[ENSMUST00000118367]
[ENSMUST00000152671]
|
| AlphaFold |
Q8K0U8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000071399
AA Change: F225Y
PolyPhen 2
Score 0.726 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000071348
Gene: ENSMUSG00000066760
AA Change: F225Y
| 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 |
possibly damaging
Transcript: ENSMUST00000118367
AA Change: F225Y
PolyPhen 2
Score 0.726 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000113025
Gene: ENSMUSG00000066760
AA Change: F225Y
| 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 |
noncoding transcript
Transcript: ENSMUST00000131153
|
| 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: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ace |
A |
G |
11: 105,879,838 (GRCm39) |
E726G |
probably damaging |
Het |
| Adgrl4 |
A |
G |
3: 151,246,622 (GRCm39) |
I641V |
possibly damaging |
Het |
| Apoa5 |
A |
T |
9: 46,181,931 (GRCm39) |
R336* |
probably null |
Het |
| Bfsp2 |
T |
A |
9: 103,357,023 (GRCm39) |
T135S |
probably benign |
Het |
| Calhm2 |
A |
T |
19: 47,121,501 (GRCm39) |
Y223N |
probably damaging |
Het |
| Ccdc158 |
T |
C |
5: 92,775,325 (GRCm39) |
E960G |
probably benign |
Het |
| Ccdc80 |
T |
C |
16: 44,917,073 (GRCm39) |
S610P |
probably benign |
Het |
| Cdon |
T |
A |
9: 35,366,704 (GRCm39) |
Y193* |
probably null |
Het |
| Cept1 |
A |
T |
3: 106,410,992 (GRCm39) |
H400Q |
probably benign |
Het |
| Cfap144 |
T |
C |
11: 58,687,427 (GRCm39) |
E66G |
probably damaging |
Het |
| Clspn |
T |
A |
4: 126,484,434 (GRCm39) |
N1197K |
probably benign |
Het |
| Cnot8 |
T |
C |
11: 58,004,816 (GRCm39) |
S172P |
probably damaging |
Het |
| Col14a1 |
T |
C |
15: 55,383,404 (GRCm39) |
I1794T |
probably damaging |
Het |
| Cracdl |
T |
C |
1: 37,652,493 (GRCm39) |
T1105A |
possibly damaging |
Het |
| Fam193a |
A |
T |
5: 34,616,374 (GRCm39) |
T564S |
possibly damaging |
Het |
| Galnt1 |
G |
A |
18: 24,387,720 (GRCm39) |
V154I |
probably benign |
Het |
| Gstcd |
C |
A |
3: 132,704,675 (GRCm39) |
E526D |
probably benign |
Het |
| Ighv1-42 |
A |
C |
12: 114,900,907 (GRCm39) |
S59R |
probably benign |
Het |
| Morn3 |
A |
G |
5: 123,184,823 (GRCm39) |
C6R |
possibly damaging |
Het |
| Nrdc |
A |
T |
4: 108,901,782 (GRCm39) |
K617M |
probably damaging |
Het |
| Or2aj4 |
A |
G |
16: 19,385,009 (GRCm39) |
L208P |
probably damaging |
Het |
| Or51ai2 |
A |
G |
7: 103,587,400 (GRCm39) |
H271R |
probably benign |
Het |
| Or8b36 |
T |
A |
9: 37,937,762 (GRCm39) |
I220N |
probably damaging |
Het |
| Or8b49 |
T |
C |
9: 38,506,252 (GRCm39) |
M245T |
probably benign |
Het |
| Pcdhb11 |
A |
G |
18: 37,556,056 (GRCm39) |
N462S |
probably damaging |
Het |
| Pfpl |
G |
T |
19: 12,406,825 (GRCm39) |
D359Y |
probably damaging |
Het |
| Phyhip |
T |
C |
14: 70,699,299 (GRCm39) |
V34A |
probably benign |
Het |
| Pigu |
A |
T |
2: 155,139,116 (GRCm39) |
I313N |
possibly damaging |
Het |
| Plch1 |
C |
T |
3: 63,609,444 (GRCm39) |
R912H |
probably damaging |
Het |
| Setdb2 |
T |
A |
14: 59,660,898 (GRCm39) |
K82* |
probably null |
Het |
| Sgms1 |
A |
G |
19: 32,101,825 (GRCm39) |
S394P |
possibly damaging |
Het |
| Slc16a1 |
T |
C |
3: 104,560,310 (GRCm39) |
L205P |
probably benign |
Het |
| Slc19a1 |
T |
A |
10: 76,880,603 (GRCm39) |
I380N |
probably damaging |
Het |
| Snx32 |
A |
G |
19: 5,548,042 (GRCm39) |
I131T |
probably benign |
Het |
| Sorbs3 |
T |
C |
14: 70,430,053 (GRCm39) |
|
probably null |
Het |
| Stc2 |
T |
A |
11: 31,310,392 (GRCm39) |
I215L |
probably benign |
Het |
| Tln2 |
C |
T |
9: 67,230,302 (GRCm39) |
A84T |
probably damaging |
Het |
| Tomm34 |
A |
G |
2: 163,902,911 (GRCm39) |
M133T |
probably benign |
Het |
| Usp43 |
A |
G |
11: 67,770,733 (GRCm39) |
S634P |
probably benign |
Het |
| Vmn2r59 |
T |
A |
7: 41,661,749 (GRCm39) |
R689* |
probably null |
Het |
| Vmn2r9 |
C |
T |
5: 108,992,902 (GRCm39) |
R536Q |
probably benign |
Het |
| Wdr24 |
C |
T |
17: 26,043,579 (GRCm39) |
H134Y |
probably benign |
Het |
| Zfhx2 |
T |
A |
14: 55,305,767 (GRCm39) |
|
probably null |
Het |
| Zfp1004 |
A |
G |
2: 150,034,725 (GRCm39) |
K349E |
probably damaging |
Het |
| Zfp608 |
G |
T |
18: 55,120,944 (GRCm39) |
H214Q |
possibly damaging |
Het |
| Zfp619 |
T |
C |
7: 39,184,558 (GRCm39) |
V196A |
probably benign |
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 |
|
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 |
|
R8372:Psg16
|
UTSW |
7 |
16,829,240 (GRCm39) |
missense |
probably benign |
0.10 |
|
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'- GTCTTTCCACCAAGCACAATG -3'
(R):5'- CTGTTCACTTGGATTTGCACG -3'
Sequencing Primer
(F):5'- CAAGCACAATGATCACATGTAATG -3'
(R):5'- AGTGTATACAAGCCCGTG -3'
|
| Posted On |
2017-08-16 |
Incidental Mutation