Incidental Mutation 'R6241:Psd3'
ID |
505244 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Psd3
|
Ensembl Gene |
ENSMUSG00000030465 |
Gene Name |
pleckstrin and Sec7 domain containing 3 |
Synonyms |
EFA6D, 4931420C21Rik |
MMRRC Submission |
044402-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.093)
|
Stock # |
R6241 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
68141734-68664679 bp(-) (GRCm39) |
Type of Mutation |
intron |
DNA Base Change (assembly) |
A to C
at 68270791 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000148783
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038959]
[ENSMUST00000059374]
[ENSMUST00000093468]
[ENSMUST00000093469]
[ENSMUST00000098696]
[ENSMUST00000120071]
[ENSMUST00000212960]
[ENSMUST00000212505]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000038959
|
SMART Domains |
Protein: ENSMUSP00000041339 Gene: ENSMUSG00000030465
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 |
probably benign
Transcript: ENSMUST00000059374
|
SMART Domains |
Protein: ENSMUSP00000060306 Gene: ENSMUSG00000030465
Domain | Start | End | E-Value | Type |
PH
|
114 |
228 |
3.85e-15 |
SMART |
Blast:Sec7
|
247 |
305 |
1e-8 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000093468
|
SMART Domains |
Protein: ENSMUSP00000091178 Gene: ENSMUSG00000030465
Domain | Start | End | E-Value | Type |
Sec7
|
17 |
206 |
1.35e-56 |
SMART |
PH
|
256 |
370 |
3.85e-15 |
SMART |
Blast:Sec7
|
389 |
451 |
1e-10 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000093469
|
SMART Domains |
Protein: ENSMUSP00000091179 Gene: ENSMUSG00000030465
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 |
probably benign
Transcript: ENSMUST00000098696
|
SMART Domains |
Protein: ENSMUSP00000096293 Gene: ENSMUSG00000030465
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 |
probably benign
Transcript: ENSMUST00000120071
|
SMART Domains |
Protein: ENSMUSP00000112545 Gene: ENSMUSG00000030465
Domain | Start | End | E-Value | Type |
PH
|
114 |
228 |
3.85e-15 |
SMART |
Blast:Sec7
|
247 |
309 |
3e-11 |
BLAST |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130307
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000212960
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150169
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000212505
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 95.0%
|
Validation Efficiency |
98% (51/52) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2m |
A |
G |
6: 121,623,788 (GRCm39) |
I385V |
probably benign |
Het |
Ablim2 |
A |
G |
5: 36,032,241 (GRCm39) |
D622G |
probably damaging |
Het |
Acsbg1 |
A |
T |
9: 54,549,946 (GRCm39) |
S86T |
probably damaging |
Het |
Adam34l |
T |
A |
8: 44,079,133 (GRCm39) |
I364L |
probably benign |
Het |
Ank2 |
A |
C |
3: 126,846,397 (GRCm39) |
D199E |
probably damaging |
Het |
Art2a |
T |
A |
7: 101,204,452 (GRCm39) |
M29L |
probably benign |
Het |
Bbs2 |
C |
A |
8: 94,824,863 (GRCm39) |
|
probably null |
Het |
Brwd1 |
A |
T |
16: 95,815,074 (GRCm39) |
I1402N |
probably damaging |
Het |
C1qtnf9 |
C |
A |
14: 61,017,069 (GRCm39) |
P200T |
possibly damaging |
Het |
Ciita |
T |
C |
16: 10,329,767 (GRCm39) |
Y684H |
probably damaging |
Het |
Dennd1c |
T |
C |
17: 57,373,272 (GRCm39) |
N734D |
probably benign |
Het |
Depdc1b |
A |
T |
13: 108,460,653 (GRCm39) |
I88F |
possibly damaging |
Het |
Dsg2 |
A |
G |
18: 20,723,274 (GRCm39) |
|
probably null |
Het |
Foxp2 |
A |
G |
6: 15,394,761 (GRCm39) |
T154A |
probably damaging |
Het |
Gmeb1 |
A |
T |
4: 131,969,688 (GRCm39) |
V95D |
possibly damaging |
Het |
Gmeb1 |
A |
G |
4: 131,973,324 (GRCm39) |
S62P |
probably benign |
Het |
Golga5 |
T |
A |
12: 102,438,732 (GRCm39) |
V149D |
probably damaging |
Het |
H1f7 |
A |
C |
15: 98,154,652 (GRCm39) |
S166A |
unknown |
Het |
Hivep1 |
T |
C |
13: 42,311,846 (GRCm39) |
L1362P |
probably benign |
Het |
Ift81 |
T |
C |
5: 122,740,414 (GRCm39) |
M205V |
probably benign |
Het |
Iglv3 |
T |
A |
16: 19,059,968 (GRCm39) |
Q120L |
possibly damaging |
Het |
Ints9 |
C |
T |
14: 65,217,659 (GRCm39) |
T62I |
possibly damaging |
Het |
Itga1 |
G |
T |
13: 115,096,673 (GRCm39) |
|
probably null |
Het |
Katnip |
C |
T |
7: 125,472,006 (GRCm39) |
H1532Y |
probably benign |
Het |
Krt77 |
A |
C |
15: 101,773,988 (GRCm39) |
I222S |
probably damaging |
Het |
Mrps25 |
A |
G |
6: 92,160,819 (GRCm39) |
|
probably null |
Het |
Mrps27 |
A |
G |
13: 99,548,754 (GRCm39) |
T297A |
probably benign |
Het |
Mup15 |
A |
T |
4: 61,357,850 (GRCm39) |
L7Q |
unknown |
Het |
Naip1 |
T |
A |
13: 100,562,169 (GRCm39) |
I999F |
probably damaging |
Het |
Ndst1 |
A |
G |
18: 60,836,901 (GRCm39) |
F387L |
probably damaging |
Het |
Nudt9 |
T |
C |
5: 104,202,151 (GRCm39) |
S71P |
probably damaging |
Het |
Or14c41 |
C |
A |
7: 86,235,245 (GRCm39) |
A254D |
probably benign |
Het |
Or2b4 |
A |
G |
17: 38,116,432 (GRCm39) |
Y132C |
probably damaging |
Het |
Or5al1 |
T |
G |
2: 85,990,380 (GRCm39) |
E111D |
probably damaging |
Het |
Pak4 |
C |
T |
7: 28,264,690 (GRCm39) |
V71I |
possibly damaging |
Het |
Pcolce |
A |
C |
5: 137,603,496 (GRCm39) |
S446A |
probably benign |
Het |
Per2 |
T |
A |
1: 91,349,251 (GRCm39) |
N1040I |
probably damaging |
Het |
Pla2g6 |
A |
T |
15: 79,188,592 (GRCm39) |
S422T |
probably benign |
Het |
Pla2r1 |
G |
T |
2: 60,332,543 (GRCm39) |
|
probably null |
Het |
Plcb4 |
T |
C |
2: 135,752,094 (GRCm39) |
V100A |
possibly damaging |
Het |
Polr1d |
C |
T |
5: 147,015,533 (GRCm39) |
T72M |
probably benign |
Het |
Radil |
T |
C |
5: 142,480,697 (GRCm39) |
E586G |
probably damaging |
Het |
Rnf150 |
A |
G |
8: 83,591,093 (GRCm39) |
N152S |
possibly damaging |
Het |
Serpina1b |
T |
A |
12: 103,695,515 (GRCm39) |
|
probably null |
Het |
Setd3 |
C |
T |
12: 108,124,114 (GRCm39) |
E192K |
probably benign |
Het |
Ssu2 |
G |
A |
6: 112,351,781 (GRCm39) |
H315Y |
probably damaging |
Het |
Taok3 |
T |
A |
5: 117,410,262 (GRCm39) |
M818K |
probably benign |
Het |
Tmem131l |
T |
C |
3: 83,829,471 (GRCm39) |
N1062S |
probably benign |
Het |
Tmx4 |
C |
T |
2: 134,481,425 (GRCm39) |
|
probably benign |
Het |
Traip |
G |
A |
9: 107,845,933 (GRCm39) |
C342Y |
probably benign |
Het |
Traj9 |
G |
T |
14: 54,446,890 (GRCm39) |
|
probably benign |
Het |
Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
Vegfc |
T |
C |
8: 54,634,289 (GRCm39) |
S323P |
probably benign |
Het |
Vinac1 |
T |
C |
2: 128,879,301 (GRCm39) |
D875G |
possibly 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 |
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 |
R8765:Psd3
|
UTSW |
8 |
68,416,093 (GRCm39) |
missense |
possibly damaging |
0.69 |
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 |
|
Posted On |
2018-02-28 |