Incidental Mutation 'IGL02548:Psg21'
| ID |
297908 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Psg21
|
| Ensembl Gene |
ENSMUSG00000070796 |
| Gene Name |
pregnancy-specific beta-1-glycoprotein 21 |
| Synonyms |
1600019C01Rik, 1600026N13Rik, 1600025N01Rik, cea8 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.054)
|
| Stock # |
IGL02548
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
18380661-18390650 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 18388961 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 44
(V44I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138173
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094793]
[ENSMUST00000182128]
|
| AlphaFold |
Q9DAV5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000094793
AA Change: V44I
PolyPhen 2
Score 0.736 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000092387
Gene: ENSMUSG00000070796
AA Change: V44I
| Domain | Start | End | E-Value | Type |
|---|
|
IG
|
39 |
138 |
3.04e-3 |
SMART |
|
IG
|
159 |
260 |
7.25e-1 |
SMART |
|
IG
|
276 |
375 |
1.25e-4 |
SMART |
|
IGc2
|
393 |
457 |
1.47e-10 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000182128
AA Change: V44I
PolyPhen 2
Score 0.890 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000138173
Gene: ENSMUSG00000070796
AA Change: V44I
| Domain | Start | End | E-Value | Type |
|---|
|
IG
|
39 |
138 |
3.04e-3 |
SMART |
|
IG
|
159 |
260 |
7.25e-1 |
SMART |
|
IG
|
276 |
375 |
1.25e-4 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182228
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182933
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc6 |
G |
A |
7: 45,654,686 (GRCm39) |
A545V |
probably damaging |
Het |
| Adam29 |
A |
T |
8: 56,325,902 (GRCm39) |
L184* |
probably null |
Het |
| Ap1g1 |
C |
T |
8: 110,576,254 (GRCm39) |
A432V |
probably damaging |
Het |
| Atrn |
C |
T |
2: 130,814,202 (GRCm39) |
T716I |
probably damaging |
Het |
| Bahd1 |
C |
A |
2: 118,747,526 (GRCm39) |
Q382K |
possibly damaging |
Het |
| Barhl2 |
A |
G |
5: 106,603,391 (GRCm39) |
V256A |
probably benign |
Het |
| Camta2 |
A |
G |
11: 70,561,511 (GRCm39) |
F1113L |
probably damaging |
Het |
| Cdh23 |
G |
T |
10: 60,485,901 (GRCm39) |
T38K |
probably benign |
Het |
| Cmtm3 |
T |
C |
8: 105,071,437 (GRCm39) |
L111P |
probably damaging |
Het |
| Col27a1 |
T |
C |
4: 63,236,492 (GRCm39) |
|
probably benign |
Het |
| Cyp2c29 |
G |
A |
19: 39,279,291 (GRCm39) |
G96D |
possibly damaging |
Het |
| Flt1 |
C |
A |
5: 147,576,058 (GRCm39) |
R650L |
probably benign |
Het |
| Fpr1 |
T |
A |
17: 18,096,915 (GRCm39) |
E358V |
probably benign |
Het |
| Ggnbp2 |
A |
T |
11: 84,753,112 (GRCm39) |
N42K |
possibly damaging |
Het |
| Gldc |
T |
C |
19: 30,077,299 (GRCm39) |
T958A |
probably benign |
Het |
| Gm3573 |
A |
G |
14: 42,009,452 (GRCm39) |
|
probably null |
Het |
| Hspbp1 |
T |
C |
7: 4,684,840 (GRCm39) |
|
probably benign |
Het |
| Jhy |
G |
T |
9: 40,828,471 (GRCm39) |
Y478* |
probably null |
Het |
| Kiz |
A |
G |
2: 146,712,690 (GRCm39) |
E118G |
probably damaging |
Het |
| Klhdc1 |
A |
G |
12: 69,300,492 (GRCm39) |
Y144C |
probably benign |
Het |
| Lamc3 |
A |
T |
2: 31,810,674 (GRCm39) |
Y848F |
probably benign |
Het |
| Mixl1 |
T |
C |
1: 180,522,269 (GRCm39) |
E204G |
probably benign |
Het |
| Muc2 |
T |
A |
7: 141,305,594 (GRCm39) |
C202S |
probably damaging |
Het |
| Nfatc1 |
T |
C |
18: 80,741,113 (GRCm39) |
S282G |
probably damaging |
Het |
| Or2j6 |
T |
A |
7: 139,980,575 (GRCm39) |
Y128F |
probably damaging |
Het |
| Or5b111 |
T |
C |
19: 13,291,302 (GRCm39) |
M116V |
probably damaging |
Het |
| Or5k8 |
C |
A |
16: 58,644,691 (GRCm39) |
C127F |
probably benign |
Het |
| Orc2 |
A |
T |
1: 58,505,281 (GRCm39) |
|
probably benign |
Het |
| Pcdhb10 |
T |
C |
18: 37,545,743 (GRCm39) |
I273T |
probably benign |
Het |
| Pdzph1 |
G |
A |
17: 59,280,386 (GRCm39) |
T632I |
probably benign |
Het |
| Phf1 |
A |
G |
17: 27,154,600 (GRCm39) |
Y225C |
probably damaging |
Het |
| Pramel17 |
T |
A |
4: 101,692,770 (GRCm39) |
Y410F |
probably damaging |
Het |
| Prcp |
T |
C |
7: 92,550,382 (GRCm39) |
F60L |
probably damaging |
Het |
| Ptgdr |
C |
T |
14: 45,096,071 (GRCm39) |
V214M |
probably damaging |
Het |
| Pth1r |
G |
A |
9: 110,556,748 (GRCm39) |
R181W |
probably damaging |
Het |
| Ralgapb |
A |
G |
2: 158,286,585 (GRCm39) |
I343M |
probably damaging |
Het |
| Retreg1 |
C |
T |
15: 25,895,204 (GRCm39) |
Q128* |
probably null |
Het |
| Rrbp1 |
T |
C |
2: 143,791,679 (GRCm39) |
|
probably benign |
Het |
| Skint5 |
T |
A |
4: 113,588,273 (GRCm39) |
M726L |
unknown |
Het |
| Slc6a18 |
T |
C |
13: 73,818,114 (GRCm39) |
Y301C |
probably damaging |
Het |
| Slc8a3 |
G |
A |
12: 81,250,930 (GRCm39) |
|
probably benign |
Het |
| Tacr3 |
C |
A |
3: 134,535,232 (GRCm39) |
Q67K |
probably damaging |
Het |
| Tfrc |
A |
T |
16: 32,443,640 (GRCm39) |
K534* |
probably null |
Het |
| Timp3 |
T |
A |
10: 86,174,315 (GRCm39) |
M67K |
probably benign |
Het |
| Tmem120a |
C |
T |
5: 135,765,628 (GRCm39) |
E179K |
probably damaging |
Het |
| Tomm40l |
G |
A |
1: 171,049,216 (GRCm39) |
|
probably benign |
Het |
| Tubal3 |
A |
G |
13: 3,980,554 (GRCm39) |
R89G |
probably benign |
Het |
| Wdr35 |
A |
T |
12: 9,074,297 (GRCm39) |
N976I |
probably benign |
Het |
| Zfp292 |
T |
C |
4: 34,805,416 (GRCm39) |
T2543A |
probably damaging |
Het |
| Zfp976 |
T |
A |
7: 42,261,953 (GRCm39) |
H628L |
unknown |
Het |
| Zmynd8 |
A |
G |
2: 165,675,325 (GRCm39) |
V301A |
probably damaging |
Het |
|
| Other mutations in Psg21 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01571:Psg21
|
APN |
7 |
18,388,750 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02390:Psg21
|
APN |
7 |
18,386,556 (GRCm39) |
missense |
probably benign |
0.11 |
|
IGL03001:Psg21
|
APN |
7 |
18,386,410 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL03135:Psg21
|
APN |
7 |
18,388,843 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0131:Psg21
|
UTSW |
7 |
18,388,793 (GRCm39) |
missense |
probably benign |
0.39 |
|
R0551:Psg21
|
UTSW |
7 |
18,386,565 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1512:Psg21
|
UTSW |
7 |
18,390,425 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1874:Psg21
|
UTSW |
7 |
18,384,741 (GRCm39) |
missense |
probably benign |
0.15 |
|
R1993:Psg21
|
UTSW |
7 |
18,388,695 (GRCm39) |
missense |
probably benign |
0.04 |
|
R2327:Psg21
|
UTSW |
7 |
18,386,378 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R3414:Psg21
|
UTSW |
7 |
18,386,305 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4422:Psg21
|
UTSW |
7 |
18,381,257 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5138:Psg21
|
UTSW |
7 |
18,390,453 (GRCm39) |
start codon destroyed |
probably null |
0.94 |
|
R5623:Psg21
|
UTSW |
7 |
18,388,939 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5686:Psg21
|
UTSW |
7 |
18,386,183 (GRCm39) |
intron |
probably benign |
|
|
R6166:Psg21
|
UTSW |
7 |
18,390,664 (GRCm39) |
unclassified |
probably benign |
|
|
R6177:Psg21
|
UTSW |
7 |
18,386,279 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R6190:Psg21
|
UTSW |
7 |
18,388,926 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R6210:Psg21
|
UTSW |
7 |
18,386,270 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6482:Psg21
|
UTSW |
7 |
18,388,664 (GRCm39) |
splice site |
probably null |
|
|
R6729:Psg21
|
UTSW |
7 |
18,386,516 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6866:Psg21
|
UTSW |
7 |
18,386,209 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6992:Psg21
|
UTSW |
7 |
18,388,668 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7075:Psg21
|
UTSW |
7 |
18,388,786 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7081:Psg21
|
UTSW |
7 |
18,388,774 (GRCm39) |
nonsense |
probably null |
|
|
R7098:Psg21
|
UTSW |
7 |
18,386,470 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7582:Psg21
|
UTSW |
7 |
18,381,128 (GRCm39) |
makesense |
probably null |
|
|
R7588:Psg21
|
UTSW |
7 |
18,381,134 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7607:Psg21
|
UTSW |
7 |
18,388,708 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7830:Psg21
|
UTSW |
7 |
18,381,223 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7964:Psg21
|
UTSW |
7 |
18,381,136 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8758:Psg21
|
UTSW |
7 |
18,384,678 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8972:Psg21
|
UTSW |
7 |
18,381,293 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8988:Psg21
|
UTSW |
7 |
18,386,389 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9119:Psg21
|
UTSW |
7 |
18,381,409 (GRCm39) |
missense |
probably benign |
0.14 |
|
R9446:Psg21
|
UTSW |
7 |
18,388,865 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation