Incidental Mutation 'R5029:Psg22'
| ID |
391558 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Psg22
|
| Ensembl Gene |
ENSMUSG00000044903 |
| Gene Name |
pregnancy-specific beta-1-glycoprotein 22 |
| Synonyms |
cea9 |
| MMRRC Submission |
042620-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.052)
|
| Stock # |
R5029 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
18452015-18461173 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 18453662 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 119
(Y119C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146795
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051973]
[ENSMUST00000108481]
[ENSMUST00000208221]
|
| AlphaFold |
Q810J1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000051973
AA Change: Y119C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000050633
Gene: ENSMUSG00000044903
AA Change: Y119C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
19 |
30 |
N/A |
INTRINSIC |
|
IG
|
40 |
141 |
7.59e-4 |
SMART |
|
IG
|
160 |
261 |
1.13e-2 |
SMART |
|
IG
|
280 |
381 |
3.74e-3 |
SMART |
|
IGc2
|
397 |
461 |
7.35e-11 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000108481
AA Change: Y158C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000104121
Gene: ENSMUSG00000044903
AA Change: Y158C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
58 |
69 |
N/A |
INTRINSIC |
|
IG
|
79 |
180 |
7.59e-4 |
SMART |
|
IG
|
199 |
300 |
1.13e-2 |
SMART |
|
IG
|
319 |
420 |
3.74e-3 |
SMART |
|
IGc2
|
436 |
500 |
7.35e-11 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000208221
AA Change: Y119C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Meta Mutation Damage Score |
0.6008 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.1%
|
| Validation Efficiency |
97% (61/63) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actbl2 |
T |
A |
13: 111,392,127 (GRCm39) |
M154K |
probably benign |
Het |
| Ank |
T |
C |
15: 27,590,439 (GRCm39) |
V341A |
probably benign |
Het |
| Bnip3 |
T |
A |
7: 138,499,848 (GRCm39) |
|
probably benign |
Het |
| C1galt1 |
A |
G |
6: 7,863,931 (GRCm39) |
K4E |
possibly damaging |
Het |
| Cbs |
T |
A |
17: 31,834,456 (GRCm39) |
Q511L |
possibly damaging |
Het |
| Ccdc117 |
T |
C |
11: 5,484,897 (GRCm39) |
H109R |
possibly damaging |
Het |
| Cdh4 |
T |
A |
2: 179,523,742 (GRCm39) |
V440D |
possibly damaging |
Het |
| Cnot4 |
T |
C |
6: 35,054,962 (GRCm39) |
N109S |
probably damaging |
Het |
| Dact2 |
A |
T |
17: 14,416,114 (GRCm39) |
S695R |
probably benign |
Het |
| Defa21 |
A |
T |
8: 21,516,381 (GRCm39) |
E75V |
probably damaging |
Het |
| Dimt1 |
A |
G |
13: 107,093,630 (GRCm39) |
D274G |
probably null |
Het |
| Dstyk |
G |
T |
1: 132,377,062 (GRCm39) |
V223L |
probably benign |
Het |
| Dync1h1 |
T |
A |
12: 110,584,444 (GRCm39) |
S616T |
possibly damaging |
Het |
| Fer1l6 |
A |
T |
15: 58,515,769 (GRCm39) |
I1619F |
probably benign |
Het |
| Gm4744 |
T |
A |
6: 40,926,341 (GRCm39) |
Y83F |
probably null |
Het |
| Gm4787 |
G |
C |
12: 81,424,604 (GRCm39) |
T518S |
probably benign |
Het |
| Hpx |
T |
G |
7: 105,240,971 (GRCm39) |
Y434S |
probably damaging |
Het |
| Ints4 |
A |
G |
7: 97,158,981 (GRCm39) |
D451G |
probably benign |
Het |
| Itgb4 |
A |
T |
11: 115,879,417 (GRCm39) |
|
probably benign |
Het |
| Jph1 |
T |
A |
1: 17,161,615 (GRCm39) |
N349I |
possibly damaging |
Het |
| Klrg1 |
A |
G |
6: 122,259,694 (GRCm39) |
L26P |
probably benign |
Het |
| M1ap |
A |
C |
6: 82,980,813 (GRCm39) |
D233A |
probably damaging |
Het |
| Mfng |
C |
T |
15: 78,648,588 (GRCm39) |
R163H |
probably benign |
Het |
| Mycbp2 |
A |
G |
14: 103,393,946 (GRCm39) |
S2762P |
probably benign |
Het |
| Myh11 |
T |
A |
16: 14,023,489 (GRCm39) |
Q1556L |
probably damaging |
Het |
| N4bp2 |
A |
G |
5: 65,972,123 (GRCm39) |
D1428G |
probably damaging |
Het |
| Ndc80 |
A |
C |
17: 71,815,760 (GRCm39) |
C342G |
probably benign |
Het |
| Nxn |
A |
C |
11: 76,165,356 (GRCm39) |
Y199* |
probably null |
Het |
| Or6c206 |
T |
A |
10: 129,097,707 (GRCm39) |
N292K |
probably benign |
Het |
| Or7c19 |
C |
T |
8: 85,957,835 (GRCm39) |
A237V |
probably benign |
Het |
| Or8j3b |
A |
G |
2: 86,205,234 (GRCm39) |
I174T |
probably damaging |
Het |
| Pacs1 |
A |
G |
19: 5,192,299 (GRCm39) |
F691L |
probably benign |
Het |
| Pcdhga12 |
T |
C |
18: 37,899,864 (GRCm39) |
V232A |
probably benign |
Het |
| Pik3cb |
A |
T |
9: 98,936,113 (GRCm39) |
M773K |
probably damaging |
Het |
| Plxnb1 |
T |
C |
9: 108,943,723 (GRCm39) |
Y1937H |
probably damaging |
Het |
| Ppfia2 |
C |
A |
10: 106,693,304 (GRCm39) |
T603N |
probably benign |
Het |
| Saraf |
G |
T |
8: 34,628,412 (GRCm39) |
R86L |
probably damaging |
Het |
| Sh3bgrl2 |
T |
C |
9: 83,430,542 (GRCm39) |
S11P |
possibly damaging |
Het |
| Slc39a4 |
C |
T |
15: 76,498,283 (GRCm39) |
D385N |
probably damaging |
Het |
| St13 |
G |
C |
15: 81,283,786 (GRCm39) |
R4G |
probably benign |
Het |
| Stpg3 |
T |
C |
2: 25,104,576 (GRCm39) |
N13S |
probably damaging |
Het |
| Taf1a |
T |
A |
1: 183,177,273 (GRCm39) |
D50E |
possibly damaging |
Het |
| Tlr1 |
T |
A |
5: 65,083,024 (GRCm39) |
N518Y |
probably damaging |
Het |
| Tnik |
G |
A |
3: 28,719,993 (GRCm39) |
|
probably null |
Het |
| Tomm70a |
T |
A |
16: 56,942,514 (GRCm39) |
L97Q |
probably benign |
Het |
| Vmn2r97 |
T |
A |
17: 19,168,173 (GRCm39) |
V809E |
probably damaging |
Het |
| Vps13d |
T |
C |
4: 144,882,852 (GRCm39) |
I914V |
probably benign |
Het |
| Zfyve26 |
A |
T |
12: 79,333,097 (GRCm39) |
H291Q |
probably damaging |
Het |
| Zmynd15 |
G |
T |
11: 70,353,387 (GRCm39) |
C334F |
probably damaging |
Het |
|
| Other mutations in Psg22 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00797:Psg22
|
APN |
7 |
18,452,200 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL00839:Psg22
|
APN |
7 |
18,456,893 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL00898:Psg22
|
APN |
7 |
18,458,392 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02262:Psg22
|
APN |
7 |
18,458,496 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02678:Psg22
|
APN |
7 |
18,453,418 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02749:Psg22
|
APN |
7 |
18,456,944 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
IGL02928:Psg22
|
APN |
7 |
18,453,458 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02977:Psg22
|
APN |
7 |
18,453,524 (GRCm39) |
missense |
probably benign |
0.20 |
|
R0470:Psg22
|
UTSW |
7 |
18,453,589 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1902:Psg22
|
UTSW |
7 |
18,458,363 (GRCm39) |
nonsense |
probably null |
|
|
R1935:Psg22
|
UTSW |
7 |
18,453,635 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1936:Psg22
|
UTSW |
7 |
18,453,635 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2013:Psg22
|
UTSW |
7 |
18,453,560 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R2278:Psg22
|
UTSW |
7 |
18,460,762 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R4258:Psg22
|
UTSW |
7 |
18,458,554 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5885:Psg22
|
UTSW |
7 |
18,452,257 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6084:Psg22
|
UTSW |
7 |
18,453,705 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6143:Psg22
|
UTSW |
7 |
18,456,723 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6209:Psg22
|
UTSW |
7 |
18,453,599 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7017:Psg22
|
UTSW |
7 |
18,458,366 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7337:Psg22
|
UTSW |
7 |
18,453,499 (GRCm39) |
missense |
probably benign |
0.20 |
|
R7417:Psg22
|
UTSW |
7 |
18,456,891 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7460:Psg22
|
UTSW |
7 |
18,458,329 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7570:Psg22
|
UTSW |
7 |
18,456,660 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7650:Psg22
|
UTSW |
7 |
18,460,684 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R7711:Psg22
|
UTSW |
7 |
18,452,267 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7991:Psg22
|
UTSW |
7 |
18,460,861 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8001:Psg22
|
UTSW |
7 |
18,453,671 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R8003:Psg22
|
UTSW |
7 |
18,458,350 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8066:Psg22
|
UTSW |
7 |
18,452,218 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R8113:Psg22
|
UTSW |
7 |
18,456,987 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9136:Psg22
|
UTSW |
7 |
18,460,811 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9148:Psg22
|
UTSW |
7 |
18,460,682 (GRCm39) |
missense |
probably benign |
0.09 |
|
R9152:Psg22
|
UTSW |
7 |
18,460,646 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9344:Psg22
|
UTSW |
7 |
18,460,816 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R9666:Psg22
|
UTSW |
7 |
18,458,248 (GRCm39) |
missense |
probably benign |
|
|
R9801:Psg22
|
UTSW |
7 |
18,456,899 (GRCm39) |
missense |
probably benign |
0.11 |
|
X0064:Psg22
|
UTSW |
7 |
18,452,106 (GRCm39) |
missense |
probably benign |
0.01 |
|
Z1177:Psg22
|
UTSW |
7 |
18,453,602 (GRCm39) |
missense |
probably benign |
0.19 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCCAGAGAATCTTCGAGTC -3'
(R):5'- ACATTGTTCTCCACCATGTGTG -3'
Sequencing Primer
(F):5'- GCCAGAGAATCTTCGAGTCTTTGTC -3'
(R):5'- TGCTCAAGCCCCAATATGGAG -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation