Incidental Mutation 'R5994:Psd3'
| ID |
481007 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Psd3
|
| Ensembl Gene |
ENSMUSG00000030465 |
| Gene Name |
pleckstrin and Sec7 domain containing 3 |
| Synonyms |
EFA6D, 4931420C21Rik |
| MMRRC Submission |
044173-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.086)
|
| Stock # |
R5994 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
68141734-68664679 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 68172620 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 894
(A894T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148401
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038959]
[ENSMUST00000059374]
[ENSMUST00000093468]
[ENSMUST00000093469]
[ENSMUST00000098696]
[ENSMUST00000120071]
[ENSMUST00000212505]
[ENSMUST00000212960]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000038959
AA Change: A864T
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000041339
Gene: ENSMUSG00000030465
AA Change: A864T
| 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: ENSMUST00000059374
AA Change: A235T
PolyPhen 2
Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000060306
Gene: ENSMUSG00000030465
AA Change: A235T
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
114 |
228 |
3.85e-15 |
SMART |
|
Blast:Sec7
|
247 |
305 |
1e-8 |
BLAST |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000093468
AA Change: A377T
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000091178
Gene: ENSMUSG00000030465
AA Change: A377T
| 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: A863T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000091179
Gene: ENSMUSG00000030465
AA Change: A863T
| 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: A863T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000096293
Gene: ENSMUSG00000030465
AA Change: A863T
| 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: A235T
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000112545
Gene: ENSMUSG00000030465
AA Change: A235T
| 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: A894T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000212960
AA Change: A1148T
PolyPhen 2
Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.4%
- 20x: 91.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
A |
T |
6: 121,647,862 (GRCm39) |
H1118L |
probably benign |
Het |
| Abca8b |
A |
G |
11: 109,840,592 (GRCm39) |
|
probably null |
Het |
| Abcb5 |
A |
T |
12: 118,928,995 (GRCm39) |
|
probably null |
Het |
| Adcy6 |
A |
T |
15: 98,491,545 (GRCm39) |
I1016N |
probably damaging |
Het |
| Afg3l2 |
A |
T |
18: 67,562,140 (GRCm39) |
C312S |
probably damaging |
Het |
| Ano8 |
C |
T |
8: 71,937,478 (GRCm39) |
V89M |
probably damaging |
Het |
| Arhgap21 |
C |
T |
2: 20,886,187 (GRCm39) |
G330D |
possibly damaging |
Het |
| Caskin1 |
T |
C |
17: 24,715,935 (GRCm39) |
L195P |
probably damaging |
Het |
| Cfap54 |
A |
G |
10: 92,874,943 (GRCm39) |
I514T |
probably damaging |
Het |
| Ctdsp2 |
G |
A |
10: 126,831,689 (GRCm39) |
|
probably benign |
Het |
| Cyp4x1 |
T |
C |
4: 114,979,142 (GRCm39) |
I152V |
probably benign |
Het |
| Dglucy |
G |
A |
12: 100,808,959 (GRCm39) |
R219Q |
probably benign |
Het |
| Disp3 |
G |
T |
4: 148,338,741 (GRCm39) |
A810E |
possibly damaging |
Het |
| Dtx4 |
T |
C |
19: 12,478,517 (GRCm39) |
Y22C |
probably damaging |
Het |
| Edaradd |
A |
T |
13: 12,493,377 (GRCm39) |
I105N |
probably damaging |
Het |
| Eepd1 |
C |
T |
9: 25,514,749 (GRCm39) |
P519S |
probably damaging |
Het |
| Fscn3 |
A |
T |
6: 28,430,294 (GRCm39) |
S155C |
probably benign |
Het |
| Gm10134 |
A |
T |
2: 28,396,258 (GRCm39) |
E51V |
probably damaging |
Het |
| Gm7247 |
C |
T |
14: 51,601,805 (GRCm39) |
S26F |
probably benign |
Het |
| Golga7 |
T |
C |
8: 23,740,281 (GRCm39) |
E83G |
probably benign |
Het |
| Gpr12 |
T |
C |
5: 146,520,241 (GRCm39) |
H227R |
probably damaging |
Het |
| Hoxa2 |
T |
G |
6: 52,141,372 (GRCm39) |
S85R |
possibly damaging |
Het |
| Hrnr |
T |
C |
3: 93,239,607 (GRCm39) |
S3282P |
unknown |
Het |
| Ift74 |
C |
A |
4: 94,579,961 (GRCm39) |
T543K |
possibly damaging |
Het |
| Klf10 |
C |
A |
15: 38,296,285 (GRCm39) |
R420L |
probably damaging |
Het |
| Krt77 |
T |
A |
15: 101,771,290 (GRCm39) |
I338F |
probably damaging |
Het |
| Limch1 |
A |
T |
5: 67,131,965 (GRCm39) |
S152C |
probably damaging |
Het |
| Mgat4e |
T |
A |
1: 134,469,234 (GRCm39) |
H270L |
probably benign |
Het |
| Myrf |
A |
T |
19: 10,196,481 (GRCm39) |
L504Q |
probably null |
Het |
| Nckipsd |
A |
G |
9: 108,691,176 (GRCm39) |
Q366R |
probably benign |
Het |
| Npy5r |
A |
T |
8: 67,134,751 (GRCm39) |
V14D |
probably benign |
Het |
| Nrap |
T |
A |
19: 56,340,031 (GRCm39) |
R830* |
probably null |
Het |
| Ogfrl1 |
A |
T |
1: 23,418,070 (GRCm39) |
Y103N |
probably damaging |
Het |
| Or10g7 |
A |
T |
9: 39,905,519 (GRCm39) |
R138* |
probably null |
Het |
| P2rx4 |
T |
A |
5: 122,863,142 (GRCm39) |
L232H |
probably damaging |
Het |
| Pabpc2 |
A |
T |
18: 39,906,947 (GRCm39) |
T71S |
probably benign |
Het |
| Paip2b |
C |
A |
6: 83,785,867 (GRCm39) |
S121I |
probably damaging |
Het |
| Pofut1 |
C |
T |
2: 153,103,149 (GRCm39) |
T261I |
possibly damaging |
Het |
| Ppp6c |
G |
T |
2: 39,101,004 (GRCm39) |
T46K |
possibly damaging |
Het |
| Prkd2 |
C |
A |
7: 16,584,261 (GRCm39) |
H371Q |
probably benign |
Het |
| Prrc2c |
A |
T |
1: 162,501,725 (GRCm39) |
|
probably null |
Het |
| Pygm |
A |
T |
19: 6,448,073 (GRCm39) |
|
probably null |
Het |
| Pzp |
A |
T |
6: 128,468,560 (GRCm39) |
M989K |
probably damaging |
Het |
| Ralgapa2 |
A |
T |
2: 146,203,373 (GRCm39) |
S1159T |
probably benign |
Het |
| Rapgefl1 |
T |
C |
11: 98,740,986 (GRCm39) |
F575L |
probably benign |
Het |
| Rassf6 |
A |
G |
5: 90,765,627 (GRCm39) |
L28S |
probably damaging |
Het |
| Rbp3 |
G |
T |
14: 33,676,857 (GRCm39) |
K268N |
probably damaging |
Het |
| Rela |
C |
T |
19: 5,697,092 (GRCm39) |
T433M |
possibly damaging |
Het |
| Rnf103 |
T |
A |
6: 71,473,894 (GRCm39) |
S102R |
probably damaging |
Het |
| Scarf2 |
A |
G |
16: 17,624,243 (GRCm39) |
N516S |
probably damaging |
Het |
| Sdcbp2 |
T |
C |
2: 151,429,403 (GRCm39) |
I241T |
probably damaging |
Het |
| Septin7 |
T |
C |
9: 25,199,494 (GRCm39) |
I131T |
possibly damaging |
Het |
| Sh3pxd2b |
T |
C |
11: 32,357,570 (GRCm39) |
F191L |
probably damaging |
Het |
| Siglec15 |
C |
A |
18: 78,090,590 (GRCm39) |
C236F |
probably damaging |
Het |
| Slc11a2 |
T |
C |
15: 100,295,562 (GRCm39) |
T520A |
probably benign |
Het |
| Slc26a11 |
C |
A |
11: 119,270,738 (GRCm39) |
F553L |
probably benign |
Het |
| Smchd1 |
G |
A |
17: 71,672,404 (GRCm39) |
P1596S |
possibly damaging |
Het |
| Taar7b |
A |
G |
10: 23,876,246 (GRCm39) |
H137R |
probably damaging |
Het |
| Thap12 |
T |
A |
7: 98,365,237 (GRCm39) |
C468* |
probably null |
Het |
| Timp4 |
C |
T |
6: 115,224,315 (GRCm39) |
G118D |
probably damaging |
Het |
| Tnnt3 |
A |
G |
7: 142,065,003 (GRCm39) |
K48E |
probably damaging |
Het |
| Trmt10a |
T |
A |
3: 137,862,475 (GRCm39) |
I255N |
probably damaging |
Het |
| Ttll10 |
T |
C |
4: 156,133,189 (GRCm39) |
|
probably null |
Het |
| Tut7 |
T |
G |
13: 59,937,023 (GRCm39) |
Y806S |
probably damaging |
Het |
| Ube4b |
A |
G |
4: 149,457,389 (GRCm39) |
Y283H |
probably damaging |
Het |
| Ucp1 |
G |
T |
8: 84,020,567 (GRCm39) |
V126L |
possibly damaging |
Het |
| Unc13b |
T |
A |
4: 43,172,596 (GRCm39) |
|
probably benign |
Het |
| Vps13b |
T |
C |
15: 35,875,918 (GRCm39) |
S2768P |
probably damaging |
Het |
| Zfp101 |
T |
A |
17: 33,599,936 (GRCm39) |
M607L |
probably benign |
Het |
| Zfp292 |
C |
T |
4: 34,805,464 (GRCm39) |
V2527M |
possibly damaging |
Het |
| Zfp503 |
T |
A |
14: 22,035,630 (GRCm39) |
T429S |
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 |
|
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'- CCTGCAATTCACTACTGCAAGG -3'
(R):5'- ACCAGTGAAGTTTTGCACTAAG -3'
Sequencing Primer
(F):5'- GCAATTCACTACTGCAAGGTTTATC -3'
(R):5'- CCAGTGAAGTTTTGCACTAAGAATAC -3'
|
| Posted On |
2017-06-26 |
Incidental Mutation