Incidental Mutation 'R7964:Psg21'
| ID |
650264 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Psg21
|
| Ensembl Gene |
ENSMUSG00000070796 |
| Gene Name |
pregnancy-specific beta-1-glycoprotein 21 |
| Synonyms |
1600019C01Rik, 1600026N13Rik, 1600025N01Rik, cea8 |
| MMRRC Submission |
046007-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.049)
|
| Stock # |
R7964 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
18380661-18390650 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 18381136 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Threonine
at position 469
(M469T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000092387
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094793]
[ENSMUST00000182128]
|
| AlphaFold |
Q9DAV5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000094793
AA Change: M469T
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000092387
Gene: ENSMUSG00000070796
AA Change: M469T
| 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 |
probably benign
Transcript: ENSMUST00000182128
|
| SMART Domains |
Protein: ENSMUSP00000138173
Gene: ENSMUSG00000070796
| 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 |
|
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
T |
11: 9,266,146 (GRCm39) |
M3042L |
probably benign |
Het |
| Abca3 |
T |
A |
17: 24,621,410 (GRCm39) |
L1345Q |
probably benign |
Het |
| Adam20 |
G |
T |
8: 41,249,944 (GRCm39) |
V685F |
probably damaging |
Het |
| Adam25 |
T |
A |
8: 41,208,576 (GRCm39) |
I614N |
probably damaging |
Het |
| Aldh1a7 |
C |
T |
19: 20,677,371 (GRCm39) |
V417M |
probably damaging |
Het |
| Aldh1a7 |
C |
T |
19: 20,693,406 (GRCm39) |
G171D |
probably benign |
Het |
| Aloxe3 |
T |
C |
11: 69,017,362 (GRCm39) |
F45S |
probably damaging |
Het |
| Ankrd26 |
T |
C |
6: 118,500,160 (GRCm39) |
I1104V |
probably benign |
Het |
| Ap3d1 |
C |
A |
10: 80,565,891 (GRCm39) |
R92L |
probably damaging |
Het |
| Aspm |
A |
G |
1: 139,408,424 (GRCm39) |
Q2437R |
probably damaging |
Het |
| Bcl11a |
T |
C |
11: 24,113,353 (GRCm39) |
I232T |
probably benign |
Het |
| Cdcp3 |
G |
T |
7: 130,899,963 (GRCm39) |
R2102L |
unknown |
Het |
| Cemip2 |
T |
C |
19: 21,775,794 (GRCm39) |
|
probably null |
Het |
| Cfap97 |
A |
G |
8: 46,623,237 (GRCm39) |
D209G |
possibly damaging |
Het |
| Csmd2 |
A |
G |
4: 128,417,303 (GRCm39) |
M2754V |
|
Het |
| Dcdc2c |
A |
G |
12: 28,520,318 (GRCm39) |
I586T |
|
Het |
| Dkk4 |
T |
C |
8: 23,115,368 (GRCm39) |
C73R |
probably damaging |
Het |
| Dnai3 |
T |
C |
3: 145,774,531 (GRCm39) |
N439D |
probably benign |
Het |
| Dzip3 |
T |
C |
16: 48,772,268 (GRCm39) |
D467G |
probably damaging |
Het |
| Eif5 |
T |
C |
12: 111,506,608 (GRCm39) |
F67L |
probably benign |
Het |
| Elmod1 |
A |
G |
9: 53,838,860 (GRCm39) |
I100T |
probably benign |
Het |
| Gm9837 |
A |
G |
11: 53,361,001 (GRCm39) |
L71P |
unknown |
Het |
| Hpse |
A |
G |
5: 100,846,777 (GRCm39) |
|
probably null |
Het |
| Insc |
T |
C |
7: 114,445,708 (GRCm39) |
L472P |
probably damaging |
Het |
| Itgax |
A |
C |
7: 127,739,590 (GRCm39) |
|
probably null |
Het |
| Lair1 |
A |
G |
7: 4,013,803 (GRCm39) |
V148A |
probably benign |
Het |
| Lama2 |
A |
G |
10: 27,099,977 (GRCm39) |
|
probably null |
Het |
| Ldlrad1 |
G |
A |
4: 107,066,688 (GRCm39) |
A8T |
probably benign |
Het |
| Lgr5 |
T |
C |
10: 115,288,079 (GRCm39) |
D855G |
probably benign |
Het |
| Lrp1 |
C |
A |
10: 127,410,913 (GRCm39) |
R1425L |
possibly damaging |
Het |
| Lrp1b |
A |
G |
2: 40,488,523 (GRCm39) |
S4521P |
|
Het |
| Nbas |
A |
G |
12: 13,406,896 (GRCm39) |
Y831C |
probably damaging |
Het |
| Nek9 |
C |
A |
12: 85,385,787 (GRCm39) |
R70L |
probably benign |
Het |
| Nlrp2 |
A |
C |
7: 5,331,527 (GRCm39) |
L290V |
probably damaging |
Het |
| Nos1 |
T |
A |
5: 118,038,607 (GRCm39) |
I480N |
probably damaging |
Het |
| Or4a80 |
T |
C |
2: 89,583,158 (GRCm39) |
N5D |
possibly damaging |
Het |
| Pcdhb13 |
C |
A |
18: 37,577,871 (GRCm39) |
Q750K |
possibly damaging |
Het |
| Pik3c2g |
C |
T |
6: 139,827,786 (GRCm39) |
T727I |
|
Het |
| Pik3r6 |
C |
A |
11: 68,424,565 (GRCm39) |
P390Q |
probably benign |
Het |
| Pramel1 |
T |
C |
4: 143,123,810 (GRCm39) |
S162P |
probably benign |
Het |
| Psg27 |
A |
T |
7: 18,299,124 (GRCm39) |
W66R |
probably damaging |
Het |
| Sbno2 |
A |
G |
10: 79,904,185 (GRCm39) |
C371R |
probably damaging |
Het |
| Shroom1 |
G |
T |
11: 53,355,149 (GRCm39) |
K329N |
possibly damaging |
Het |
| Slc35a3 |
A |
G |
3: 116,480,984 (GRCm39) |
I93T |
possibly damaging |
Het |
| Slc38a2 |
G |
A |
15: 96,590,453 (GRCm39) |
T297M |
probably benign |
Het |
| Sorl1 |
T |
A |
9: 41,902,697 (GRCm39) |
D1620V |
probably damaging |
Het |
| Srsf4 |
T |
A |
4: 131,618,544 (GRCm39) |
L45Q |
probably benign |
Het |
| Tcaf2 |
G |
A |
6: 42,606,640 (GRCm39) |
S438L |
probably benign |
Het |
| Trappc11 |
T |
A |
8: 47,979,979 (GRCm39) |
I186L |
possibly damaging |
Het |
| Usp9y |
A |
T |
Y: 1,316,914 (GRCm39) |
N1878K |
probably benign |
Het |
| Zfp280d |
T |
A |
9: 72,229,740 (GRCm39) |
M349K |
probably damaging |
Het |
| Zgpat |
A |
G |
2: 181,020,274 (GRCm39) |
H227R |
probably benign |
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 |
|
IGL02548:Psg21
|
APN |
7 |
18,388,961 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TACCATTGGGCTGCACTGTG -3'
(R):5'- CGTTGGCTCTTCAACAATCAG -3'
Sequencing Primer
(F):5'- ACAGACATTGTGGTACCATATGCTCC -3'
(R):5'- GGCTCTTCAACAATCAGAGTCTG -3'
|
| Posted On |
2020-09-15 |
Incidental Mutation