Incidental Mutation 'R0655:Psd3'
ID |
62491 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Psd3
|
Ensembl Gene |
ENSMUSG00000030465 |
Gene Name |
pleckstrin and Sec7 domain containing 3 |
Synonyms |
EFA6D, 4931420C21Rik |
MMRRC Submission |
038840-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.086)
|
Stock # |
R0655 (G1)
|
Quality Score |
85 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
68141734-68664679 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 68416341 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 519
(S519P)
|
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: S233P
PolyPhen 2
Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000041339 Gene: ENSMUSG00000030465 AA Change: S233P
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: S233P
PolyPhen 2
Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000091179 Gene: ENSMUSG00000030465 AA Change: S233P
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: S233P
PolyPhen 2
Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000096293 Gene: ENSMUSG00000030465 AA Change: S233P
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: S266P
PolyPhen 2
Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000212960
AA Change: S519P
PolyPhen 2
Score 0.185 (Sensitivity: 0.92; Specificity: 0.87)
|
Coding Region Coverage |
- 1x: 99.4%
- 3x: 99.0%
- 10x: 97.7%
- 20x: 95.8%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcf1 |
G |
C |
17: 36,268,737 (GRCm39) |
I757M |
probably benign |
Het |
Abtb3 |
A |
G |
10: 85,481,390 (GRCm39) |
T931A |
probably damaging |
Het |
Atg16l1 |
T |
A |
1: 87,694,551 (GRCm39) |
I76N |
probably damaging |
Het |
Baz1b |
T |
A |
5: 135,271,284 (GRCm39) |
I1289N |
probably benign |
Het |
Bcl2l15 |
T |
A |
3: 103,740,285 (GRCm39) |
|
probably null |
Het |
Cbl |
G |
T |
9: 44,070,049 (GRCm39) |
T566K |
probably damaging |
Het |
Cd96 |
T |
C |
16: 45,919,482 (GRCm39) |
K180E |
probably benign |
Het |
Cpxm2 |
G |
A |
7: 131,656,549 (GRCm39) |
T571I |
possibly damaging |
Het |
Cyp2a12 |
A |
T |
7: 26,736,046 (GRCm39) |
Y485F |
probably benign |
Het |
Cyp4f17 |
T |
A |
17: 32,743,871 (GRCm39) |
Y350N |
possibly damaging |
Het |
Dstn |
T |
A |
2: 143,780,342 (GRCm39) |
I14N |
probably damaging |
Het |
Eea1 |
A |
G |
10: 95,831,460 (GRCm39) |
S184G |
probably benign |
Het |
Eif1a |
G |
T |
18: 46,741,130 (GRCm39) |
G122C |
probably damaging |
Het |
Esf1 |
T |
A |
2: 139,990,799 (GRCm39) |
T562S |
probably benign |
Het |
Fem1c |
G |
A |
18: 46,638,227 (GRCm39) |
R592C |
probably benign |
Het |
Fig4 |
T |
C |
10: 41,161,673 (GRCm39) |
N30S |
probably damaging |
Het |
Gria2 |
C |
A |
3: 80,639,377 (GRCm39) |
E212* |
probably null |
Het |
Gsdmc2 |
C |
T |
15: 63,699,622 (GRCm39) |
A269T |
probably benign |
Het |
Herc4 |
T |
C |
10: 63,109,350 (GRCm39) |
V195A |
probably benign |
Het |
Hivep1 |
T |
C |
13: 42,321,061 (GRCm39) |
S2123P |
probably damaging |
Het |
Hspa4 |
T |
C |
11: 53,160,519 (GRCm39) |
E519G |
probably benign |
Het |
Htr2b |
A |
G |
1: 86,038,565 (GRCm39) |
S14P |
probably benign |
Het |
Ifit1 |
T |
C |
19: 34,625,047 (GRCm39) |
V61A |
probably damaging |
Het |
Ifitm1 |
C |
A |
7: 140,549,449 (GRCm39) |
F77L |
probably benign |
Het |
Matn2 |
T |
C |
15: 34,345,346 (GRCm39) |
S118P |
probably benign |
Het |
Mtmr3 |
C |
A |
11: 4,438,610 (GRCm39) |
D615Y |
probably damaging |
Het |
Mtss1 |
C |
A |
15: 58,953,351 (GRCm39) |
C9F |
probably damaging |
Het |
Muc5b |
A |
T |
7: 141,417,679 (GRCm39) |
I3542F |
probably benign |
Het |
Nwd2 |
T |
C |
5: 63,948,928 (GRCm39) |
S167P |
possibly damaging |
Het |
Or1e34 |
T |
C |
11: 73,778,631 (GRCm39) |
D189G |
possibly damaging |
Het |
Or2ag1b |
A |
T |
7: 106,288,632 (GRCm39) |
F102Y |
probably damaging |
Het |
Or8b54 |
C |
T |
9: 38,686,850 (GRCm39) |
Q100* |
probably null |
Het |
Oscp1 |
T |
C |
4: 125,952,526 (GRCm39) |
L18P |
probably damaging |
Het |
Pax5 |
A |
G |
4: 44,537,462 (GRCm39) |
S297P |
probably damaging |
Het |
Phldb3 |
A |
T |
7: 24,323,797 (GRCm39) |
D476V |
probably benign |
Het |
Phlpp2 |
A |
T |
8: 110,622,219 (GRCm39) |
I154L |
probably benign |
Het |
Prx |
T |
A |
7: 27,216,846 (GRCm39) |
V449E |
probably damaging |
Het |
Rnf138 |
T |
G |
18: 21,143,840 (GRCm39) |
V128G |
probably benign |
Het |
Safb |
T |
A |
17: 56,904,803 (GRCm39) |
S209T |
probably benign |
Het |
Sbno1 |
C |
A |
5: 124,514,212 (GRCm39) |
V1327L |
possibly damaging |
Het |
Scarb1 |
A |
G |
5: 125,377,504 (GRCm39) |
V176A |
probably damaging |
Het |
Scd4 |
A |
G |
19: 44,327,407 (GRCm39) |
H161R |
possibly damaging |
Het |
Selenoo |
T |
A |
15: 88,979,858 (GRCm39) |
H335Q |
probably damaging |
Het |
Slfn8 |
A |
G |
11: 82,894,647 (GRCm39) |
F664S |
probably benign |
Het |
Spef2 |
T |
C |
15: 9,626,217 (GRCm39) |
I1116M |
possibly damaging |
Het |
Taf2 |
G |
A |
15: 54,901,690 (GRCm39) |
R835W |
probably damaging |
Het |
Tdrd9 |
A |
G |
12: 112,006,899 (GRCm39) |
E921G |
probably damaging |
Het |
Tectb |
G |
A |
19: 55,178,302 (GRCm39) |
G234S |
possibly damaging |
Het |
Tmc1 |
C |
T |
19: 20,776,540 (GRCm39) |
M606I |
probably damaging |
Het |
Tmed10 |
T |
A |
12: 85,390,291 (GRCm39) |
I88F |
probably damaging |
Het |
Tnfrsf11a |
G |
A |
1: 105,735,880 (GRCm39) |
V31I |
unknown |
Het |
Trp53inp2 |
G |
T |
2: 155,228,088 (GRCm39) |
G98* |
probably null |
Het |
Tssc4 |
A |
G |
7: 142,623,782 (GRCm39) |
D30G |
probably damaging |
Het |
Uaca |
T |
C |
9: 60,779,311 (GRCm39) |
Y1233H |
probably benign |
Het |
Unc13c |
G |
A |
9: 73,838,235 (GRCm39) |
T872I |
probably damaging |
Het |
Unc80 |
A |
G |
1: 66,542,940 (GRCm39) |
H398R |
probably damaging |
Het |
Vmn1r64 |
G |
A |
7: 5,887,207 (GRCm39) |
T112I |
probably benign |
Het |
Vmn1r85 |
A |
G |
7: 12,818,650 (GRCm39) |
Y165H |
probably damaging |
Het |
Vmn2r72 |
A |
T |
7: 85,387,319 (GRCm39) |
C748* |
probably null |
Het |
Wdr17 |
A |
G |
8: 55,102,233 (GRCm39) |
W929R |
probably damaging |
Het |
Yeats2 |
A |
T |
16: 20,012,574 (GRCm39) |
K591* |
probably null |
Het |
Zbtb9 |
T |
A |
17: 27,193,074 (GRCm39) |
S160T |
probably damaging |
Het |
Znfx1 |
T |
A |
2: 166,898,827 (GRCm39) |
R32S |
probably damaging |
Het |
Zng1 |
T |
C |
19: 24,930,684 (GRCm39) |
M122V |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- CACCACAAGCTGGGCTAGAATGAC -3'
(R):5'- TTTCAGCGGAAGTACCAACGGAG -3'
Sequencing Primer
(F):5'- TGGCCGTTTGGCAAACTC -3'
(R):5'- TCTTTGCACATCCAGGAGG -3'
|
Posted On |
2013-07-30 |