Incidental Mutation 'R9351:Psd3'
ID |
708070 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Psd3
|
Ensembl Gene |
ENSMUSG00000030465 |
Gene Name |
pleckstrin and Sec7 domain containing 3 |
Synonyms |
EFA6D, 4931420C21Rik |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.093)
|
Stock # |
R9351 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
68141734-68664679 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 68413301 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Serine
at position 410
(A410S)
|
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 |
probably damaging
Transcript: ENSMUST00000038959
AA Change: A410S
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000041339 Gene: ENSMUSG00000030465 AA Change: A410S
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: A410S
PolyPhen 2
Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000091179 Gene: ENSMUSG00000030465 AA Change: A410S
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: A410S
PolyPhen 2
Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000096293 Gene: ENSMUSG00000030465 AA Change: A410S
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: ENSMUST00000212505
AA Change: A443S
PolyPhen 2
Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000212960
AA Change: A696S
PolyPhen 2
Score 0.879 (Sensitivity: 0.82; Specificity: 0.94)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.8%
|
Validation Efficiency |
100% (54/54) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700113H08Rik |
A |
G |
10: 87,066,068 (GRCm39) |
T84A |
probably benign |
Het |
Abca17 |
G |
A |
17: 24,510,751 (GRCm39) |
S909L |
probably benign |
Het |
Adamtsl3 |
A |
T |
7: 82,169,929 (GRCm39) |
Y371F |
possibly damaging |
Het |
Adcy9 |
A |
T |
16: 4,236,228 (GRCm39) |
S394R |
probably damaging |
Het |
Ahcyl1 |
T |
C |
3: 107,575,011 (GRCm39) |
N444S |
probably damaging |
Het |
Ahnak |
A |
C |
19: 8,985,232 (GRCm39) |
D2172A |
probably damaging |
Het |
Arhgef28 |
C |
T |
13: 98,130,576 (GRCm39) |
D421N |
probably benign |
Het |
Brd1 |
T |
A |
15: 88,614,307 (GRCm39) |
E196V |
possibly damaging |
Het |
Cabs1 |
A |
G |
5: 88,128,300 (GRCm39) |
D317G |
probably damaging |
Het |
Ccdc96 |
T |
C |
5: 36,642,069 (GRCm39) |
I25T |
unknown |
Het |
Clgn |
A |
G |
8: 84,153,218 (GRCm39) |
R607G |
possibly damaging |
Het |
Clp1 |
T |
C |
2: 84,554,195 (GRCm39) |
K325E |
probably benign |
Het |
Dcun1d1 |
A |
T |
3: 35,975,185 (GRCm39) |
I52K |
probably benign |
Het |
Dync2h1 |
G |
A |
9: 7,176,911 (GRCm39) |
T16I |
probably damaging |
Het |
Eif4a3l1 |
A |
T |
6: 136,306,771 (GRCm39) |
I411F |
probably benign |
Het |
Epb41l5 |
A |
G |
1: 119,477,639 (GRCm39) |
F711L |
probably benign |
Het |
Esr1 |
G |
A |
10: 4,696,763 (GRCm39) |
W204* |
probably null |
Het |
Fat2 |
A |
G |
11: 55,172,127 (GRCm39) |
L2862P |
probably damaging |
Het |
Frmd3 |
A |
G |
4: 74,054,068 (GRCm39) |
E159G |
probably damaging |
Het |
Gsto2 |
T |
A |
19: 47,874,608 (GRCm39) |
C243S |
possibly damaging |
Het |
Heg1 |
A |
G |
16: 33,545,867 (GRCm39) |
H206R |
probably benign |
Het |
Ifi203 |
A |
G |
1: 173,750,133 (GRCm39) |
V862A |
probably benign |
Het |
Ippk |
C |
T |
13: 49,615,107 (GRCm39) |
H497Y |
probably benign |
Het |
Irf5 |
A |
T |
6: 29,531,317 (GRCm39) |
N61I |
possibly damaging |
Het |
Iws1 |
G |
A |
18: 32,213,213 (GRCm39) |
E214K |
possibly damaging |
Het |
Kcnj12 |
C |
T |
11: 60,960,673 (GRCm39) |
H324Y |
probably damaging |
Het |
Kdm2a |
C |
T |
19: 4,393,141 (GRCm39) |
D405N |
|
Het |
Lars2 |
A |
G |
9: 123,265,366 (GRCm39) |
Q474R |
probably benign |
Het |
Lctl |
T |
C |
9: 64,040,473 (GRCm39) |
F472S |
possibly damaging |
Het |
Map4k2 |
T |
C |
19: 6,401,223 (GRCm39) |
S590P |
probably benign |
Het |
Mcf2l |
G |
T |
8: 13,050,757 (GRCm39) |
L337F |
possibly damaging |
Het |
Mvp |
A |
G |
7: 126,595,435 (GRCm39) |
V225A |
probably damaging |
Het |
Nfat5 |
T |
A |
8: 108,065,910 (GRCm39) |
D241E |
probably damaging |
Het |
Or6n2 |
T |
A |
1: 173,897,021 (GRCm39) |
D52E |
probably benign |
Het |
Pagr1a |
A |
T |
7: 126,616,073 (GRCm39) |
H7Q |
probably damaging |
Het |
Parp8 |
G |
T |
13: 117,000,781 (GRCm39) |
Q787K |
probably damaging |
Het |
Pcdhb2 |
C |
A |
18: 37,429,369 (GRCm39) |
N90K |
probably damaging |
Het |
Pde6h |
A |
G |
6: 136,936,332 (GRCm39) |
K25R |
probably benign |
Het |
Prr35 |
G |
A |
17: 26,166,118 (GRCm39) |
Q390* |
probably null |
Het |
Pus10 |
A |
G |
11: 23,617,311 (GRCm39) |
N8S |
probably benign |
Het |
Rnf115 |
T |
C |
3: 96,695,994 (GRCm39) |
L260S |
probably damaging |
Het |
Sdsl |
A |
T |
5: 120,601,159 (GRCm39) |
Y38N |
probably benign |
Het |
Sf1 |
A |
G |
19: 6,415,694 (GRCm39) |
D11G |
probably damaging |
Het |
Stxbp5l |
A |
G |
16: 36,936,047 (GRCm39) |
Y1177H |
probably damaging |
Het |
Taar2 |
G |
A |
10: 23,816,900 (GRCm39) |
V147I |
probably benign |
Het |
Tmed3 |
A |
T |
9: 89,584,980 (GRCm39) |
F92I |
possibly damaging |
Het |
Tmprss15 |
T |
C |
16: 78,832,086 (GRCm39) |
T357A |
probably damaging |
Het |
Trbv14 |
A |
T |
6: 41,112,428 (GRCm39) |
D75V |
probably damaging |
Het |
Vmn1r30 |
A |
G |
6: 58,412,262 (GRCm39) |
V190A |
probably benign |
Het |
Vmn2r115 |
A |
T |
17: 23,578,482 (GRCm39) |
I652F |
probably benign |
Het |
Vmn2r26 |
A |
T |
6: 124,016,333 (GRCm39) |
M266L |
probably benign |
Het |
Wdr17 |
T |
C |
8: 55,143,057 (GRCm39) |
I198V |
probably benign |
Het |
Wdr27 |
G |
A |
17: 15,128,833 (GRCm39) |
A540V |
possibly damaging |
Het |
Zfp26 |
A |
C |
9: 20,349,447 (GRCm39) |
Y372* |
probably null |
Het |
Zfp286 |
A |
G |
11: 62,670,801 (GRCm39) |
V424A |
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 |
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 |
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'- TCCCTGCAGAATAGCCCATC -3'
(R):5'- CACCTAAAGGGAATACTTGAACCTAAG -3'
Sequencing Primer
(F):5'- TGCAGAATAGCCCATCACTATC -3'
(R):5'- TTGGTTGAAGGCAGGAAATTG -3'
|
Posted On |
2022-04-18 |