Incidental Mutation 'R8765:Psd3'
| ID |
667830 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Psd3
|
| Ensembl Gene |
ENSMUSG00000030465 |
| Gene Name |
pleckstrin and Sec7 domain containing 3 |
| Synonyms |
EFA6D, 4931420C21Rik |
| MMRRC Submission |
068599-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.093)
|
| Stock # |
R8765 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
68141734-68664679 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 68416093 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 315
(D315E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000096293
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038959]
[ENSMUST00000093469]
[ENSMUST00000098696]
[ENSMUST00000212505]
[ENSMUST00000212960]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000038959
AA Change: D315E
PolyPhen 2
Score 0.565 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000041339
Gene: ENSMUSG00000030465
AA Change: D315E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
204 |
218 |
N/A |
INTRINSIC |
|
Blast:Sec7
|
431 |
496 |
5e-28 |
BLAST |
|
Sec7
|
502 |
693 |
3.9e-53 |
SMART |
|
PH
|
743 |
857 |
3.85e-15 |
SMART |
|
Blast:Sec7
|
876 |
938 |
2e-10 |
BLAST |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000093469
AA Change: D315E
PolyPhen 2
Score 0.692 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000091179
Gene: ENSMUSG00000030465
AA Change: D315E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
204 |
218 |
N/A |
INTRINSIC |
|
Blast:Sec7
|
431 |
496 |
5e-28 |
BLAST |
|
Sec7
|
502 |
692 |
2.4e-53 |
SMART |
|
PH
|
742 |
856 |
3.85e-15 |
SMART |
|
Blast:Sec7
|
875 |
937 |
2e-10 |
BLAST |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000098696
AA Change: D315E
PolyPhen 2
Score 0.692 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000096293
Gene: ENSMUSG00000030465
AA Change: D315E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
204 |
218 |
N/A |
INTRINSIC |
|
Blast:Sec7
|
431 |
496 |
5e-28 |
BLAST |
|
Sec7
|
502 |
692 |
2.4e-53 |
SMART |
|
PH
|
742 |
856 |
3.85e-15 |
SMART |
|
Blast:Sec7
|
875 |
937 |
2e-10 |
BLAST |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000212505
AA Change: D348E
PolyPhen 2
Score 0.547 (Sensitivity: 0.88; Specificity: 0.91)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212960
AA Change: D601E
PolyPhen 2
Score 0.203 (Sensitivity: 0.92; Specificity: 0.88)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
100% (71/71) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932414N04Rik |
G |
A |
2: 68,566,956 (GRCm39) |
D452N |
possibly damaging |
Het |
| Actr1a |
G |
T |
19: 46,372,787 (GRCm39) |
|
probably benign |
Het |
| Alox15 |
A |
G |
11: 70,240,819 (GRCm39) |
V187A |
probably benign |
Het |
| Alpk1 |
A |
T |
3: 127,466,118 (GRCm39) |
N1129K |
probably damaging |
Het |
| Angptl1 |
A |
G |
1: 156,684,727 (GRCm39) |
N299D |
probably benign |
Het |
| Ank2 |
T |
C |
3: 126,850,731 (GRCm39) |
T128A |
possibly damaging |
Het |
| Armh4 |
C |
T |
14: 49,920,100 (GRCm39) |
R743K |
probably damaging |
Het |
| Arsj |
G |
A |
3: 126,232,781 (GRCm39) |
R509K |
probably benign |
Het |
| Atp6v0a2 |
G |
A |
5: 124,793,534 (GRCm39) |
M630I |
probably damaging |
Het |
| BC107364 |
T |
C |
3: 96,341,751 (GRCm39) |
H122R |
unknown |
Het |
| Bdh2 |
T |
C |
3: 134,996,841 (GRCm39) |
M112T |
probably benign |
Het |
| C1qtnf3 |
G |
A |
15: 10,952,843 (GRCm39) |
|
probably null |
Het |
| Cables1 |
T |
C |
18: 12,056,422 (GRCm39) |
L326P |
probably benign |
Het |
| Cacna1c |
C |
A |
6: 118,580,844 (GRCm39) |
A1769S |
|
Het |
| Cacna2d2 |
T |
C |
9: 107,394,358 (GRCm39) |
L567P |
probably damaging |
Het |
| Cacnb4 |
C |
T |
2: 52,327,001 (GRCm39) |
R399H |
probably damaging |
Het |
| Cacng4 |
A |
C |
11: 107,625,976 (GRCm39) |
I205S |
probably damaging |
Het |
| Ciz1 |
A |
G |
2: 32,260,895 (GRCm39) |
K269E |
probably damaging |
Het |
| Csf1 |
A |
G |
3: 107,663,991 (GRCm39) |
V35A |
probably benign |
Het |
| Csmd1 |
G |
T |
8: 16,760,627 (GRCm39) |
Y169* |
probably null |
Het |
| Ctnna1 |
T |
A |
18: 35,384,293 (GRCm39) |
M756K |
probably damaging |
Het |
| Dnah7b |
T |
A |
1: 46,392,159 (GRCm39) |
L3840Q |
possibly damaging |
Het |
| Fabp9 |
T |
C |
3: 10,258,813 (GRCm39) |
*143W |
probably null |
Het |
| Fh1 |
C |
T |
1: 175,435,378 (GRCm39) |
|
probably benign |
Het |
| Fmo2 |
T |
C |
1: 162,707,966 (GRCm39) |
T390A |
probably benign |
Het |
| Fsip1 |
G |
T |
2: 118,082,154 (GRCm39) |
D93E |
possibly damaging |
Het |
| Golga5 |
A |
G |
12: 102,445,963 (GRCm39) |
D406G |
probably benign |
Het |
| Gucy2d |
C |
A |
7: 98,108,347 (GRCm39) |
A760E |
probably benign |
Het |
| Hax1 |
T |
C |
3: 89,904,780 (GRCm39) |
I141V |
probably benign |
Het |
| Hid1 |
T |
A |
11: 115,239,786 (GRCm39) |
|
probably null |
Het |
| Hmcn1 |
C |
T |
1: 150,556,413 (GRCm39) |
V2458I |
probably damaging |
Het |
| Igkv4-72 |
A |
G |
6: 69,203,894 (GRCm39) |
V99A |
probably benign |
Het |
| Igkv5-39 |
G |
A |
6: 69,877,915 (GRCm39) |
S16L |
probably benign |
Het |
| Ints4 |
T |
A |
7: 97,151,016 (GRCm39) |
D294E |
possibly damaging |
Het |
| Lcn11 |
A |
G |
2: 25,668,139 (GRCm39) |
Y99C |
probably damaging |
Het |
| Lrrc8b |
G |
A |
5: 105,629,133 (GRCm39) |
R493H |
probably benign |
Het |
| Mon1b |
A |
T |
8: 114,362,881 (GRCm39) |
D43V |
possibly damaging |
Het |
| Mrpl9 |
G |
A |
3: 94,355,129 (GRCm39) |
V234I |
possibly damaging |
Het |
| Nek10 |
A |
T |
14: 14,999,104 (GRCm38) |
E1034D |
probably damaging |
Het |
| Nfxl1 |
T |
C |
5: 72,686,443 (GRCm39) |
H586R |
probably benign |
Het |
| Nit2 |
T |
A |
16: 56,979,832 (GRCm39) |
D211V |
probably benign |
Het |
| Nle1 |
G |
A |
11: 82,793,882 (GRCm39) |
R385C |
probably damaging |
Het |
| Or10ak12 |
T |
C |
4: 118,666,159 (GRCm39) |
T301A |
probably benign |
Het |
| Or1i2 |
C |
T |
10: 78,448,429 (GRCm39) |
M15I |
probably benign |
Het |
| Or2a25 |
T |
C |
6: 42,889,102 (GRCm39) |
V215A |
probably benign |
Het |
| Or2ab1 |
G |
T |
11: 58,488,785 (GRCm39) |
V182F |
possibly damaging |
Het |
| Or6ae1 |
T |
C |
7: 139,742,467 (GRCm39) |
H132R |
probably benign |
Het |
| Or6c213 |
A |
G |
10: 129,574,511 (GRCm39) |
Y92H |
probably damaging |
Het |
| Pcdh10 |
T |
C |
3: 45,333,923 (GRCm39) |
I79T |
probably damaging |
Het |
| Peg10 |
A |
G |
6: 4,754,492 (GRCm39) |
D91G |
unknown |
Het |
| Plec |
C |
T |
15: 76,066,045 (GRCm39) |
A1342T |
unknown |
Het |
| Ppp2r3d |
A |
G |
9: 124,439,649 (GRCm38) |
V68A |
|
Het |
| Pramel46 |
T |
C |
5: 95,419,447 (GRCm39) |
M1V |
probably null |
Het |
| Rack1 |
A |
G |
11: 48,694,286 (GRCm39) |
N162S |
probably benign |
Het |
| Slc12a8 |
C |
A |
16: 33,338,731 (GRCm39) |
H11Q |
possibly damaging |
Het |
| Slc44a5 |
A |
T |
3: 153,968,561 (GRCm39) |
D584V |
probably damaging |
Het |
| Spata18 |
T |
C |
5: 73,825,992 (GRCm39) |
S100P |
|
Het |
| Stap2 |
G |
T |
17: 56,310,145 (GRCm39) |
S53R |
probably damaging |
Het |
| Timeless |
T |
C |
10: 128,080,412 (GRCm39) |
|
probably null |
Het |
| Tlk1 |
A |
T |
2: 70,582,581 (GRCm39) |
S183T |
probably benign |
Het |
| Tpp2 |
T |
A |
1: 44,011,849 (GRCm39) |
|
probably null |
Het |
| Ttn |
A |
T |
2: 76,654,663 (GRCm39) |
|
probably benign |
Het |
| Uri1 |
A |
G |
7: 37,696,145 (GRCm39) |
V40A |
probably benign |
Het |
| Vmn1r15 |
T |
C |
6: 57,235,585 (GRCm39) |
V151A |
probably benign |
Het |
| Vmn1r198 |
A |
C |
13: 22,539,269 (GRCm39) |
I252L |
probably damaging |
Het |
| Vmn2r101 |
T |
A |
17: 19,809,245 (GRCm39) |
W125R |
probably damaging |
Het |
| Wdr89 |
A |
G |
12: 75,679,688 (GRCm39) |
S189P |
probably damaging |
Het |
| Zfp1006 |
T |
C |
8: 129,948,070 (GRCm39) |
D49G |
probably benign |
Het |
| Zfp873 |
T |
A |
10: 81,896,072 (GRCm39) |
C268S |
probably damaging |
Het |
| Zfp932 |
T |
A |
5: 110,154,827 (GRCm39) |
D8E |
probably benign |
Het |
| Zfyve16 |
T |
C |
13: 92,658,055 (GRCm39) |
R619G |
probably benign |
Het |
| Zswim2 |
A |
T |
2: 83,771,431 (GRCm39) |
I31N |
probably damaging |
Het |
|
| Other mutations in Psd3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00769:Psd3
|
APN |
8 |
68,361,331 (GRCm39) |
splice site |
probably benign |
|
|
IGL01095:Psd3
|
APN |
8 |
68,361,165 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01139:Psd3
|
APN |
8 |
68,361,187 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01330:Psd3
|
APN |
8 |
68,149,830 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01350:Psd3
|
APN |
8 |
68,173,544 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01487:Psd3
|
APN |
8 |
68,149,766 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01780:Psd3
|
APN |
8 |
68,416,521 (GRCm39) |
missense |
probably benign |
|
|
IGL02020:Psd3
|
APN |
8 |
68,426,822 (GRCm39) |
intron |
probably benign |
|
|
IGL02232:Psd3
|
APN |
8 |
68,356,797 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02350:Psd3
|
APN |
8 |
68,416,521 (GRCm39) |
missense |
probably benign |
|
|
IGL02357:Psd3
|
APN |
8 |
68,416,521 (GRCm39) |
missense |
probably benign |
|
|
PIT4495001:Psd3
|
UTSW |
8 |
68,416,565 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0052:Psd3
|
UTSW |
8 |
68,335,631 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0052:Psd3
|
UTSW |
8 |
68,335,631 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0242:Psd3
|
UTSW |
8 |
68,210,738 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0242:Psd3
|
UTSW |
8 |
68,210,738 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0581:Psd3
|
UTSW |
8 |
68,173,598 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0655:Psd3
|
UTSW |
8 |
68,416,341 (GRCm39) |
missense |
probably benign |
0.19 |
|
R1740:Psd3
|
UTSW |
8 |
68,573,491 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1789:Psd3
|
UTSW |
8 |
68,413,217 (GRCm39) |
missense |
probably benign |
0.26 |
|
R1847:Psd3
|
UTSW |
8 |
68,172,656 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1951:Psd3
|
UTSW |
8 |
68,416,139 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1954:Psd3
|
UTSW |
8 |
68,149,727 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2143:Psd3
|
UTSW |
8 |
68,417,003 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4387:Psd3
|
UTSW |
8 |
68,453,413 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4801:Psd3
|
UTSW |
8 |
68,573,800 (GRCm39) |
missense |
probably benign |
|
|
R4802:Psd3
|
UTSW |
8 |
68,573,800 (GRCm39) |
missense |
probably benign |
|
|
R4913:Psd3
|
UTSW |
8 |
68,573,821 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5045:Psd3
|
UTSW |
8 |
68,166,477 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5173:Psd3
|
UTSW |
8 |
68,149,641 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5264:Psd3
|
UTSW |
8 |
68,166,377 (GRCm39) |
missense |
probably benign |
0.23 |
|
R5350:Psd3
|
UTSW |
8 |
68,361,513 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5816:Psd3
|
UTSW |
8 |
68,413,162 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5994:Psd3
|
UTSW |
8 |
68,172,620 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6157:Psd3
|
UTSW |
8 |
68,574,179 (GRCm39) |
start codon destroyed |
probably benign |
0.14 |
|
R6241:Psd3
|
UTSW |
8 |
68,270,791 (GRCm39) |
intron |
probably benign |
|
|
R6586:Psd3
|
UTSW |
8 |
68,416,197 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6735:Psd3
|
UTSW |
8 |
68,573,398 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6908:Psd3
|
UTSW |
8 |
68,416,829 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6984:Psd3
|
UTSW |
8 |
68,270,697 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R7082:Psd3
|
UTSW |
8 |
68,356,800 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7116:Psd3
|
UTSW |
8 |
68,166,390 (GRCm39) |
missense |
probably benign |
0.12 |
|
R7297:Psd3
|
UTSW |
8 |
68,573,686 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7334:Psd3
|
UTSW |
8 |
68,361,357 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7348:Psd3
|
UTSW |
8 |
68,243,583 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R7357:Psd3
|
UTSW |
8 |
68,574,149 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7369:Psd3
|
UTSW |
8 |
68,356,818 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7385:Psd3
|
UTSW |
8 |
68,453,408 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7733:Psd3
|
UTSW |
8 |
68,573,568 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R7873:Psd3
|
UTSW |
8 |
68,335,634 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8110:Psd3
|
UTSW |
8 |
68,573,708 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8768:Psd3
|
UTSW |
8 |
68,417,003 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8817:Psd3
|
UTSW |
8 |
68,413,135 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8837:Psd3
|
UTSW |
8 |
68,172,596 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8878:Psd3
|
UTSW |
8 |
68,210,750 (GRCm39) |
missense |
probably benign |
0.28 |
|
R8903:Psd3
|
UTSW |
8 |
68,165,945 (GRCm39) |
missense |
unknown |
|
|
R8955:Psd3
|
UTSW |
8 |
68,416,461 (GRCm39) |
missense |
probably benign |
0.08 |
|
R9216:Psd3
|
UTSW |
8 |
68,573,539 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9241:Psd3
|
UTSW |
8 |
68,415,967 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9351:Psd3
|
UTSW |
8 |
68,413,301 (GRCm39) |
missense |
probably benign |
0.18 |
|
R9449:Psd3
|
UTSW |
8 |
68,165,833 (GRCm39) |
missense |
unknown |
|
|
R9451:Psd3
|
UTSW |
8 |
68,363,487 (GRCm39) |
missense |
unknown |
|
|
R9709:Psd3
|
UTSW |
8 |
68,194,414 (GRCm39) |
missense |
probably null |
0.99 |
|
R9797:Psd3
|
UTSW |
8 |
68,210,778 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1088:Psd3
|
UTSW |
8 |
68,358,912 (GRCm39) |
splice site |
silent |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GTGATTTCCTATAGCATGTTCCAGG -3'
(R):5'- AGGCCGGATCAAACATGTAG -3'
Sequencing Primer
(F):5'- TATAGCATGTTCCAGGCATCAC -3'
(R):5'- GGCCGGATCAAACATGTAGAATTTC -3'
|
| Posted On |
2021-03-08 |
Incidental Mutation