Incidental Mutation 'IGL01330:Psd3'
| ID |
74489 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Psd3
|
| Ensembl Gene |
ENSMUSG00000030465 |
| Gene Name |
pleckstrin and Sec7 domain containing 3 |
| Synonyms |
EFA6D, 4931420C21Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.086)
|
| Stock # |
IGL01330
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
68141734-68664679 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 68149830 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Aspartic acid
at position 1222
(Y1222D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148783
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038959]
[ENSMUST00000093468]
[ENSMUST00000093469]
[ENSMUST00000098696]
[ENSMUST00000120071]
[ENSMUST00000212505]
[ENSMUST00000212960]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000038959
AA Change: Y938D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000041339
Gene: ENSMUSG00000030465
AA Change: Y938D
| 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 damaging
Transcript: ENSMUST00000093468
AA Change: Y451D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000091178
Gene: ENSMUSG00000030465
AA Change: Y451D
| 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 damaging
Transcript: ENSMUST00000093469
AA Change: Y937D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000091179
Gene: ENSMUSG00000030465
AA Change: Y937D
| 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 damaging
Transcript: ENSMUST00000098696
AA Change: Y937D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000096293
Gene: ENSMUSG00000030465
AA Change: Y937D
| 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 damaging
Transcript: ENSMUST00000120071
AA Change: Y309D
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000112545
Gene: ENSMUSG00000030465
AA Change: Y309D
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
114 |
228 |
3.85e-15 |
SMART |
|
Blast:Sec7
|
247 |
309 |
3e-11 |
BLAST |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000212505
AA Change: Y968D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000212960
AA Change: Y1222D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A1cf |
A |
G |
19: 31,898,351 (GRCm39) |
E245G |
possibly damaging |
Het |
| Acap2 |
T |
C |
16: 30,973,495 (GRCm39) |
I43V |
probably damaging |
Het |
| Acot11 |
T |
C |
4: 106,628,681 (GRCm39) |
T36A |
probably benign |
Het |
| Bsn |
A |
G |
9: 107,988,112 (GRCm39) |
|
probably benign |
Het |
| Capza2 |
T |
C |
6: 17,654,170 (GRCm39) |
|
probably null |
Het |
| Cerkl |
A |
G |
2: 79,199,125 (GRCm39) |
I155T |
possibly damaging |
Het |
| Dclre1b |
T |
C |
3: 103,710,442 (GRCm39) |
T490A |
probably benign |
Het |
| Efcab6 |
G |
A |
15: 83,928,501 (GRCm39) |
S31L |
probably benign |
Het |
| Faim |
T |
A |
9: 98,874,588 (GRCm39) |
M67K |
probably damaging |
Het |
| Frem2 |
T |
G |
3: 53,562,662 (GRCm39) |
Q615P |
possibly damaging |
Het |
| Fut9 |
A |
G |
4: 25,619,791 (GRCm39) |
V341A |
possibly damaging |
Het |
| Grhpr |
T |
C |
4: 44,986,375 (GRCm39) |
F142L |
probably benign |
Het |
| Kif14 |
T |
C |
1: 136,404,112 (GRCm39) |
V532A |
probably damaging |
Het |
| Klk1b9 |
T |
A |
7: 43,627,867 (GRCm39) |
L55* |
probably null |
Het |
| Kmt2e |
C |
A |
5: 23,702,946 (GRCm39) |
P1042Q |
possibly damaging |
Het |
| Mpped1 |
T |
A |
15: 83,684,320 (GRCm39) |
I114N |
probably damaging |
Het |
| Mtap |
C |
A |
4: 89,089,460 (GRCm39) |
T148K |
probably damaging |
Het |
| Muc16 |
G |
A |
9: 18,419,803 (GRCm39) |
A8347V |
possibly damaging |
Het |
| Nhs |
A |
T |
X: 160,624,449 (GRCm39) |
S967T |
probably damaging |
Het |
| Npas3 |
A |
G |
12: 54,095,602 (GRCm39) |
Y344C |
probably damaging |
Het |
| Or51q1 |
A |
T |
7: 103,629,349 (GRCm39) |
|
probably benign |
Het |
| Or5an9 |
T |
C |
19: 12,187,404 (GRCm39) |
V158A |
possibly damaging |
Het |
| Or8b12c |
T |
A |
9: 37,715,516 (GRCm39) |
F103Y |
probably damaging |
Het |
| Osmr |
A |
G |
15: 6,871,509 (GRCm39) |
Y303H |
probably damaging |
Het |
| Pcdhb8 |
A |
T |
18: 37,490,631 (GRCm39) |
I770F |
probably benign |
Het |
| Pde4a |
C |
T |
9: 21,103,734 (GRCm39) |
|
probably benign |
Het |
| Prkacb |
T |
G |
3: 146,457,266 (GRCm39) |
N79T |
probably damaging |
Het |
| Rrbp1 |
T |
A |
2: 143,810,538 (GRCm39) |
E847D |
possibly damaging |
Het |
| Sbno1 |
A |
T |
5: 124,530,042 (GRCm39) |
D912E |
probably damaging |
Het |
| Sgsm3 |
T |
A |
15: 80,895,053 (GRCm39) |
|
probably benign |
Het |
| Shcbp1 |
T |
C |
8: 4,786,372 (GRCm39) |
T577A |
probably benign |
Het |
| Siglec1 |
A |
T |
2: 130,925,456 (GRCm39) |
V335D |
probably damaging |
Het |
| Siglec1 |
A |
T |
2: 130,916,925 (GRCm39) |
L1110* |
probably null |
Het |
| Slc4a11 |
A |
G |
2: 130,529,602 (GRCm39) |
I335T |
probably benign |
Het |
| Smchd1 |
A |
C |
17: 71,743,783 (GRCm39) |
S461A |
probably benign |
Het |
| Spata16 |
C |
T |
3: 26,968,864 (GRCm39) |
P415S |
probably damaging |
Het |
| Tdrd12 |
G |
A |
7: 35,204,459 (GRCm39) |
S217L |
possibly damaging |
Het |
| Tmem156 |
C |
T |
5: 65,237,525 (GRCm39) |
R45H |
probably benign |
Het |
| Vmn2r90 |
T |
C |
17: 17,953,542 (GRCm39) |
S569P |
probably benign |
Het |
| Vps13c |
T |
A |
9: 67,871,390 (GRCm39) |
V3220E |
probably damaging |
Het |
| Wdr59 |
T |
C |
8: 112,208,565 (GRCm39) |
N439S |
possibly damaging |
Het |
| Zfp568 |
A |
G |
7: 29,721,702 (GRCm39) |
M215V |
probably benign |
Het |
| Zgrf1 |
T |
A |
3: 127,377,656 (GRCm39) |
V967E |
probably damaging |
Het |
| Zkscan16 |
A |
G |
4: 58,956,483 (GRCm39) |
D255G |
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 |
|
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 |
|
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 |
|
|
| Posted On |
2013-10-07 |
Incidental Mutation