Incidental Mutation 'R5816:Psd3'
| ID |
449045 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Psd3
|
| Ensembl Gene |
ENSMUSG00000030465 |
| Gene Name |
pleckstrin and Sec7 domain containing 3 |
| Synonyms |
EFA6D, 4931420C21Rik |
| MMRRC Submission |
043214-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.086)
|
| Stock # |
R5816 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
68141734-68664679 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 68413162 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 742
(V742E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148783
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038959]
[ENSMUST00000093469]
[ENSMUST00000098696]
[ENSMUST00000212505]
[ENSMUST00000212960]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000038959
AA Change: V456E
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000041339
Gene: ENSMUSG00000030465
AA Change: V456E
| 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: ENSMUST00000093469
AA Change: V456E
PolyPhen 2
Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000091179
Gene: ENSMUSG00000030465
AA Change: V456E
| 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
AA Change: V456E
PolyPhen 2
Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000096293
Gene: ENSMUSG00000030465
AA Change: V456E
| 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 |
noncoding transcript
Transcript: ENSMUST00000127631
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150169
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212123
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212505
AA Change: V489E
PolyPhen 2
Score 0.283 (Sensitivity: 0.91; Specificity: 0.88)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000212960
AA Change: V742E
PolyPhen 2
Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc3 |
T |
C |
11: 94,234,563 (GRCm39) |
D1501G |
probably damaging |
Het |
| Aldh8a1 |
A |
T |
10: 21,271,329 (GRCm39) |
I352F |
probably damaging |
Het |
| Bend7 |
G |
A |
2: 4,749,143 (GRCm39) |
E87K |
probably damaging |
Het |
| Bend7 |
A |
G |
2: 4,757,710 (GRCm39) |
R251G |
probably benign |
Het |
| Cep72 |
A |
T |
13: 74,197,150 (GRCm39) |
S402T |
probably benign |
Het |
| Cer1 |
A |
G |
4: 82,801,120 (GRCm39) |
V181A |
probably damaging |
Het |
| Ces1b |
T |
C |
8: 93,799,890 (GRCm39) |
N162S |
probably benign |
Het |
| Cyp1a2 |
T |
C |
9: 57,588,336 (GRCm39) |
N296S |
probably benign |
Het |
| Cyria |
A |
G |
12: 12,408,166 (GRCm39) |
D64G |
probably benign |
Het |
| Dst |
C |
T |
1: 34,218,315 (GRCm39) |
A1585V |
probably benign |
Het |
| Dzip1 |
G |
A |
14: 119,146,892 (GRCm39) |
P339L |
probably benign |
Het |
| Eif4enif1 |
T |
C |
11: 3,192,401 (GRCm39) |
I568T |
probably benign |
Het |
| Eif5a |
C |
T |
11: 69,808,499 (GRCm39) |
R109Q |
possibly damaging |
Het |
| Foxj2 |
G |
A |
6: 122,810,695 (GRCm39) |
S225N |
probably benign |
Het |
| Foxp1 |
TTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG |
TTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG |
6: 99,052,926 (GRCm39) |
|
probably benign |
Het |
| Galnt14 |
T |
C |
17: 73,881,877 (GRCm39) |
Y74C |
probably damaging |
Het |
| Glrb |
T |
A |
3: 80,769,286 (GRCm39) |
N147I |
probably damaging |
Het |
| Grb14 |
A |
T |
2: 64,747,628 (GRCm39) |
M377K |
probably damaging |
Het |
| Kcng1 |
C |
T |
2: 168,110,643 (GRCm39) |
E174K |
possibly damaging |
Het |
| Kdm3b |
A |
C |
18: 34,961,522 (GRCm39) |
E1433A |
probably damaging |
Het |
| Matn3 |
G |
A |
12: 9,020,571 (GRCm39) |
R481H |
probably damaging |
Het |
| Mcm6 |
A |
G |
1: 128,276,192 (GRCm39) |
V331A |
probably benign |
Het |
| Mdga2 |
T |
C |
12: 66,701,956 (GRCm39) |
Y415C |
probably damaging |
Het |
| Med11 |
T |
C |
11: 70,343,111 (GRCm39) |
S65P |
probably damaging |
Het |
| Metrnl |
T |
A |
11: 121,598,938 (GRCm39) |
S166T |
probably benign |
Het |
| Mllt6 |
A |
G |
11: 97,563,400 (GRCm39) |
K328E |
probably damaging |
Het |
| Nek5 |
T |
C |
8: 22,586,752 (GRCm39) |
K353R |
probably benign |
Het |
| Or52ab4 |
A |
G |
7: 102,988,202 (GRCm39) |
T314A |
probably benign |
Het |
| Or8g52 |
T |
A |
9: 39,630,526 (GRCm39) |
M1K |
probably null |
Het |
| Pfkl |
A |
T |
10: 77,837,856 (GRCm39) |
N46K |
possibly damaging |
Het |
| Phactr3 |
A |
G |
2: 177,944,586 (GRCm39) |
E428G |
probably damaging |
Het |
| Pkhd1 |
T |
C |
1: 20,128,902 (GRCm39) |
S3934G |
probably benign |
Het |
| Pkhd1l1 |
A |
G |
15: 44,429,718 (GRCm39) |
D3312G |
probably benign |
Het |
| Prmt8 |
G |
A |
6: 127,674,701 (GRCm39) |
T309I |
probably benign |
Het |
| S100a14 |
A |
G |
3: 90,435,157 (GRCm39) |
H56R |
probably damaging |
Het |
| Scaf8 |
T |
A |
17: 3,227,988 (GRCm39) |
S406T |
unknown |
Het |
| Slc26a4 |
G |
T |
12: 31,578,684 (GRCm39) |
H656Q |
probably damaging |
Het |
| Smarcc1 |
T |
C |
9: 110,026,712 (GRCm39) |
V724A |
possibly damaging |
Het |
| Thbs2 |
C |
T |
17: 14,904,333 (GRCm39) |
|
probably null |
Het |
| Zbtb6 |
A |
T |
2: 37,319,227 (GRCm39) |
F234I |
probably benign |
Het |
| Zfp536 |
C |
T |
7: 37,180,053 (GRCm39) |
D851N |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CCCTACACTTAGATTTCCCAAAGAG -3'
(R):5'- GTGTACAGCAGCCAATTCGAAAC -3'
Sequencing Primer
(F):5'- CTTAGATTTCCCAAAGAGAGAATACC -3'
(R):5'- GCAGCCAATTCGAAACTATTTTGGAC -3'
|
| Posted On |
2016-12-20 |
Incidental Mutation