Incidental Mutation 'R8878:Psd3'
ID |
676697 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Psd3
|
Ensembl Gene |
ENSMUSG00000030465 |
Gene Name |
pleckstrin and Sec7 domain containing 3 |
Synonyms |
EFA6D, 4931420C21Rik |
MMRRC Submission |
068746-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.093)
|
Stock # |
R8878 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
68141734-68664679 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 68210750 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 752
(I752T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000096293
(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 benign
Transcript: ENSMUST00000038959
AA Change: I753T
PolyPhen 2
Score 0.329 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000041339 Gene: ENSMUSG00000030465 AA Change: I753T
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: ENSMUST00000059374
AA Change: I124T
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000060306 Gene: ENSMUSG00000030465 AA Change: I124T
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: I266T
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000091178 Gene: ENSMUSG00000030465 AA Change: I266T
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
AA Change: I752T
PolyPhen 2
Score 0.282 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000091179 Gene: ENSMUSG00000030465 AA Change: I752T
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: I752T
PolyPhen 2
Score 0.282 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000096293 Gene: ENSMUSG00000030465 AA Change: I752T
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 |
possibly damaging
Transcript: ENSMUST00000120071
AA Change: I124T
PolyPhen 2
Score 0.852 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000112545 Gene: ENSMUSG00000030465 AA Change: I124T
Domain | Start | End | E-Value | Type |
PH
|
114 |
228 |
3.85e-15 |
SMART |
Blast:Sec7
|
247 |
309 |
3e-11 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000212505
AA Change: I783T
PolyPhen 2
Score 0.282 (Sensitivity: 0.91; Specificity: 0.88)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000212960
AA Change: I1037T
PolyPhen 2
Score 0.142 (Sensitivity: 0.92; Specificity: 0.86)
|
Meta Mutation Damage Score |
0.1283 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
Validation Efficiency |
99% (73/74) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 75 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acss2 |
C |
A |
2: 155,398,324 (GRCm39) |
H348Q |
probably benign |
Het |
Ago1 |
T |
A |
4: 126,357,516 (GRCm39) |
Y53F |
probably benign |
Het |
Arrdc5 |
A |
G |
17: 56,601,342 (GRCm39) |
L261P |
probably benign |
Het |
Asb2 |
C |
A |
12: 103,290,138 (GRCm39) |
W551L |
possibly damaging |
Het |
Atl2 |
T |
C |
17: 80,160,232 (GRCm39) |
I452V |
probably benign |
Het |
Atxn7l3 |
T |
C |
11: 102,183,545 (GRCm39) |
S203G |
probably benign |
Het |
Bche |
A |
G |
3: 73,608,506 (GRCm39) |
F307L |
probably benign |
Het |
C6 |
T |
C |
15: 4,826,454 (GRCm39) |
V679A |
probably benign |
Het |
Cd163 |
A |
T |
6: 124,297,469 (GRCm39) |
N872Y |
probably damaging |
Het |
Cdkal1 |
C |
A |
13: 29,658,607 (GRCm39) |
V380F |
probably damaging |
Het |
Ceacam11 |
A |
T |
7: 17,709,536 (GRCm39) |
I245L |
probably benign |
Het |
Ceacam16 |
G |
T |
7: 19,592,656 (GRCm39) |
T84K |
possibly damaging |
Het |
Ceacam2 |
T |
A |
7: 25,227,351 (GRCm39) |
Q172L |
probably benign |
Het |
Chga |
T |
G |
12: 102,527,720 (GRCm39) |
S125A |
possibly damaging |
Het |
Col9a1 |
T |
C |
1: 24,236,048 (GRCm39) |
|
probably null |
Het |
Crybg3 |
C |
A |
16: 59,380,547 (GRCm39) |
A236S |
probably benign |
Het |
Csmd1 |
A |
G |
8: 15,960,528 (GRCm39) |
Y3296H |
probably damaging |
Het |
Cyp2j8 |
C |
A |
4: 96,358,807 (GRCm39) |
V371L |
possibly damaging |
Het |
Des |
C |
A |
1: 75,337,137 (GRCm39) |
L26M |
unknown |
Het |
Edc3 |
A |
G |
9: 57,623,484 (GRCm39) |
S140G |
possibly damaging |
Het |
Fam161a |
C |
T |
11: 22,970,092 (GRCm39) |
T90I |
probably benign |
Het |
Fancm |
T |
C |
12: 65,173,522 (GRCm39) |
Y1945H |
probably damaging |
Het |
Fbn2 |
C |
T |
18: 58,257,318 (GRCm39) |
V350I |
probably benign |
Het |
Git2 |
A |
G |
5: 114,899,649 (GRCm39) |
C235R |
possibly damaging |
Het |
Gk2 |
T |
C |
5: 97,604,341 (GRCm39) |
K166E |
probably benign |
Het |
Gm12258 |
G |
A |
11: 58,750,112 (GRCm39) |
R429H |
unknown |
Het |
Gm7247 |
T |
G |
14: 51,666,210 (GRCm39) |
|
probably benign |
Het |
Gmppa |
A |
G |
1: 75,414,932 (GRCm39) |
Y59C |
probably damaging |
Het |
Has1 |
G |
T |
17: 18,070,321 (GRCm39) |
A200E |
possibly damaging |
Het |
Hbs1l |
T |
C |
10: 21,234,711 (GRCm39) |
I588T |
possibly damaging |
Het |
Helz2 |
A |
G |
2: 180,874,560 (GRCm39) |
V1978A |
possibly damaging |
Het |
Hoxb9 |
T |
C |
11: 96,165,557 (GRCm39) |
Y209H |
probably damaging |
Het |
Hps5 |
T |
C |
7: 46,421,345 (GRCm39) |
D706G |
probably benign |
Het |
Hydin |
T |
C |
8: 111,035,720 (GRCm39) |
V137A |
probably benign |
Het |
Ifngr2 |
T |
C |
16: 91,359,847 (GRCm39) |
I318T |
probably benign |
Het |
Iqgap3 |
C |
T |
3: 88,020,532 (GRCm39) |
T1290I |
probably damaging |
Het |
Jrk |
A |
T |
15: 74,578,988 (GRCm39) |
V99E |
probably benign |
Het |
Kalrn |
G |
A |
16: 34,018,830 (GRCm39) |
P1311S |
probably benign |
Het |
Kalrn |
G |
A |
16: 34,025,696 (GRCm39) |
T931M |
probably damaging |
Het |
Kirrel3 |
A |
G |
9: 34,850,561 (GRCm39) |
|
probably benign |
Het |
Klk1b9 |
T |
C |
7: 43,443,782 (GRCm39) |
F99L |
possibly damaging |
Het |
Lamb3 |
T |
C |
1: 193,013,124 (GRCm39) |
C450R |
probably damaging |
Het |
Lyst |
T |
A |
13: 13,815,661 (GRCm39) |
S1182T |
probably benign |
Het |
Map1a |
T |
C |
2: 121,138,125 (GRCm39) |
V2933A |
probably damaging |
Het |
Map2k5 |
A |
T |
9: 63,250,667 (GRCm39) |
|
probably null |
Het |
Mcm6 |
A |
G |
1: 128,283,248 (GRCm39) |
|
probably null |
Het |
Mmp17 |
G |
A |
5: 129,683,378 (GRCm39) |
V505M |
probably damaging |
Het |
Mpped2 |
A |
G |
2: 106,575,065 (GRCm39) |
D50G |
probably damaging |
Het |
Mtf1 |
T |
A |
4: 124,715,023 (GRCm39) |
L216* |
probably null |
Het |
Niban2 |
A |
T |
2: 32,811,105 (GRCm39) |
M372L |
probably benign |
Het |
Obscn |
T |
C |
11: 58,890,638 (GRCm39) |
E7298G |
unknown |
Het |
Or52ab7 |
A |
T |
7: 102,978,212 (GRCm39) |
H173L |
possibly damaging |
Het |
Or56a3 |
T |
C |
7: 104,735,763 (GRCm39) |
L280P |
probably damaging |
Het |
Or6c205 |
T |
C |
10: 129,086,883 (GRCm39) |
L160P |
probably benign |
Het |
Or7d9 |
A |
G |
9: 20,197,358 (GRCm39) |
D129G |
probably damaging |
Het |
Otulinl |
T |
A |
15: 27,664,884 (GRCm39) |
H24L |
probably benign |
Het |
Pax2 |
G |
A |
19: 44,777,215 (GRCm39) |
|
probably null |
Het |
Pcnt |
T |
A |
10: 76,244,675 (GRCm39) |
E1135V |
probably damaging |
Het |
Pgap3 |
A |
T |
11: 98,281,924 (GRCm39) |
V129D |
probably benign |
Het |
Polq |
A |
G |
16: 36,860,869 (GRCm39) |
N497S |
probably benign |
Het |
Ppfia4 |
T |
C |
1: 134,227,122 (GRCm39) |
T1138A |
|
Het |
Prickle4 |
A |
G |
17: 48,001,587 (GRCm39) |
L32P |
|
Het |
Prl2c2 |
C |
T |
13: 13,171,896 (GRCm39) |
G158R |
probably damaging |
Het |
Sag |
A |
T |
1: 87,756,158 (GRCm39) |
Y255F |
probably benign |
Het |
Scn7a |
A |
T |
2: 66,506,199 (GRCm39) |
D1563E |
probably damaging |
Het |
Secisbp2 |
A |
G |
13: 51,837,404 (GRCm39) |
N855S |
probably benign |
Het |
Setd2 |
T |
C |
9: 110,421,467 (GRCm39) |
V2011A |
probably benign |
Het |
Slc30a6 |
T |
C |
17: 74,730,112 (GRCm39) |
V334A |
probably damaging |
Het |
Spen |
A |
G |
4: 141,204,520 (GRCm39) |
V1369A |
unknown |
Het |
Stac2 |
T |
C |
11: 97,932,373 (GRCm39) |
T207A |
probably benign |
Het |
Syne2 |
T |
C |
12: 75,952,067 (GRCm39) |
V445A |
probably benign |
Het |
Tas2r131 |
C |
A |
6: 132,934,467 (GRCm39) |
W114L |
probably damaging |
Het |
Tgfbrap1 |
G |
A |
1: 43,088,959 (GRCm39) |
R815* |
probably null |
Het |
Trpv2 |
A |
T |
11: 62,481,112 (GRCm39) |
I404L |
probably benign |
Het |
Zfp236 |
G |
A |
18: 82,617,122 (GRCm39) |
T1791M |
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 |
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'- CGTGAGTCTCTGATTTAAGACTGG -3'
(R):5'- GTTATGGTAAGTCCTGCTTCAGTC -3'
Sequencing Primer
(F):5'- GACTGGATGCATTCTCTAATTTCG -3'
(R):5'- GGTAAGTCCTGCTTCAGTCTTTGTC -3'
|
Posted On |
2021-07-15 |