Incidental Mutation 'R8110:Psd3'
ID |
630810 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Psd3
|
Ensembl Gene |
ENSMUSG00000030465 |
Gene Name |
pleckstrin and Sec7 domain containing 3 |
Synonyms |
EFA6D, 4931420C21Rik |
MMRRC Submission |
067539-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.093)
|
Stock # |
R8110 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
68141734-68664679 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 68573708 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Cysteine
at position 158
(S158C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000148783
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000178529]
[ENSMUST00000212960]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000178529
AA Change: S158C
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000137221 Gene: ENSMUSG00000095306 AA Change: S158C
Domain | Start | End | E-Value | Type |
low complexity region
|
18 |
44 |
N/A |
INTRINSIC |
low complexity region
|
72 |
89 |
N/A |
INTRINSIC |
low complexity region
|
100 |
108 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000178529
AA Change: S158C
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000212960
AA Change: S158C
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 93.1%
|
Validation Efficiency |
99% (73/74) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 68 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ankrd45 |
T |
C |
1: 160,978,889 (GRCm39) |
|
probably null |
Het |
Appl1 |
C |
A |
14: 26,649,751 (GRCm39) |
G592* |
probably null |
Het |
Arfgef2 |
T |
A |
2: 166,720,464 (GRCm39) |
M1501K |
probably benign |
Het |
Calcrl |
C |
T |
2: 84,169,683 (GRCm39) |
A333T |
probably damaging |
Het |
Cd200r3 |
T |
A |
16: 44,771,835 (GRCm39) |
I33N |
probably benign |
Het |
Ceacam15 |
A |
G |
7: 16,407,334 (GRCm39) |
L61P |
probably benign |
Het |
Cfap69 |
T |
A |
5: 5,632,515 (GRCm39) |
H827L |
possibly damaging |
Het |
Csmd3 |
T |
A |
15: 47,507,666 (GRCm39) |
E2780V |
probably damaging |
Het |
Cyp2u1 |
G |
A |
3: 131,087,303 (GRCm39) |
T426I |
probably damaging |
Het |
Eefsec |
A |
C |
6: 88,353,312 (GRCm39) |
I119S |
probably damaging |
Het |
Fem1b |
T |
C |
9: 62,703,550 (GRCm39) |
N570S |
probably damaging |
Het |
Fmo9 |
A |
G |
1: 166,491,095 (GRCm39) |
M461T |
probably benign |
Het |
Fryl |
A |
G |
5: 73,290,620 (GRCm39) |
Y95H |
probably benign |
Het |
Fsip2 |
T |
C |
2: 82,789,017 (GRCm39) |
I346T |
probably benign |
Het |
Fto |
T |
C |
8: 92,211,818 (GRCm39) |
F381S |
probably damaging |
Het |
Gabbr1 |
G |
C |
17: 37,359,475 (GRCm39) |
S150T |
probably benign |
Het |
Galnt9 |
G |
T |
5: 110,763,339 (GRCm39) |
W448L |
probably damaging |
Het |
Gcnt2 |
G |
T |
13: 41,071,198 (GRCm39) |
|
probably benign |
Het |
Gm10800 |
CAAGAAAACTGAAAATCAAAGAAAACTGAAAATCA |
CAAGAAAACTGAAAATCA |
2: 98,497,361 (GRCm39) |
|
probably null |
Het |
Gmcl1 |
G |
T |
6: 86,698,408 (GRCm39) |
A163E |
probably damaging |
Het |
Hectd4 |
A |
G |
5: 121,471,012 (GRCm39) |
Y2633C |
possibly damaging |
Het |
Hsd11b2 |
A |
G |
8: 106,249,266 (GRCm39) |
I214V |
probably damaging |
Het |
Hspa12a |
T |
A |
19: 58,809,445 (GRCm39) |
E217V |
possibly damaging |
Het |
Itih2 |
A |
G |
2: 10,101,948 (GRCm39) |
F845L |
probably damaging |
Het |
Kcnn3 |
T |
A |
3: 89,568,540 (GRCm39) |
L606H |
probably damaging |
Het |
Krt6b |
G |
A |
15: 101,588,577 (GRCm39) |
R28C |
probably damaging |
Het |
Lama2 |
T |
A |
10: 26,866,866 (GRCm39) |
D2876V |
probably damaging |
Het |
Lmbrd2 |
T |
C |
15: 9,175,279 (GRCm39) |
S397P |
probably damaging |
Het |
Lmf2 |
C |
T |
15: 89,236,561 (GRCm39) |
|
probably null |
Het |
Lrp2 |
A |
G |
2: 69,336,797 (GRCm39) |
I1325T |
probably benign |
Het |
Ltbp2 |
A |
T |
12: 84,850,676 (GRCm39) |
C879* |
probably null |
Het |
Map3k1 |
A |
G |
13: 111,891,847 (GRCm39) |
V1136A |
probably damaging |
Het |
Mettl3 |
G |
T |
14: 52,537,709 (GRCm39) |
H84N |
probably benign |
Het |
Mia2 |
A |
G |
12: 59,155,873 (GRCm39) |
|
probably null |
Het |
Mlip |
G |
T |
9: 77,146,861 (GRCm39) |
T92K |
probably damaging |
Het |
Nalcn |
T |
A |
14: 123,702,113 (GRCm39) |
Y466F |
probably benign |
Het |
Nav2 |
T |
A |
7: 49,201,698 (GRCm39) |
L235* |
probably null |
Het |
Nbn |
T |
C |
4: 15,981,588 (GRCm39) |
V560A |
probably benign |
Het |
Ncln |
A |
T |
10: 81,328,987 (GRCm39) |
Y144N |
possibly damaging |
Het |
Nfe2l2 |
A |
C |
2: 75,509,765 (GRCm39) |
D18E |
probably benign |
Het |
Or10aa3 |
G |
A |
1: 173,878,091 (GRCm39) |
A51T |
probably benign |
Het |
Or12d2 |
A |
G |
17: 37,624,604 (GRCm39) |
F224L |
probably benign |
Het |
Or1ak2 |
T |
C |
2: 36,827,721 (GRCm39) |
C197R |
possibly damaging |
Het |
Or5w11 |
T |
C |
2: 87,458,951 (GRCm39) |
I48T |
possibly damaging |
Het |
Otop3 |
A |
T |
11: 115,230,221 (GRCm39) |
M33L |
probably benign |
Het |
Pate7 |
T |
C |
9: 35,689,329 (GRCm39) |
*84W |
probably null |
Het |
Pdzd2 |
G |
A |
15: 12,373,592 (GRCm39) |
S2181L |
probably benign |
Het |
Phf14 |
T |
C |
6: 11,953,422 (GRCm39) |
I387T |
possibly damaging |
Het |
Prb1c |
C |
T |
6: 132,338,531 (GRCm39) |
G229D |
unknown |
Het |
Prdm9 |
T |
A |
17: 15,774,960 (GRCm39) |
N318Y |
probably damaging |
Het |
Proca1 |
A |
G |
11: 78,095,737 (GRCm39) |
D123G |
probably damaging |
Het |
Prune2 |
G |
A |
19: 17,098,083 (GRCm39) |
G1196S |
probably benign |
Het |
Rps18 |
A |
G |
17: 34,174,110 (GRCm39) |
V15A |
probably benign |
Het |
Sanbr |
G |
T |
11: 23,526,764 (GRCm39) |
T696N |
probably benign |
Het |
Sharpin |
C |
A |
15: 76,231,965 (GRCm39) |
R271L |
possibly damaging |
Het |
Smad5 |
C |
A |
13: 56,871,701 (GRCm39) |
Q99K |
probably damaging |
Het |
Sox5 |
T |
C |
6: 144,062,200 (GRCm39) |
M151V |
possibly damaging |
Het |
Sphkap |
A |
T |
1: 83,256,492 (GRCm39) |
F419Y |
possibly damaging |
Het |
Tbx20 |
T |
A |
9: 24,636,821 (GRCm39) |
Y422F |
probably damaging |
Het |
Tcirg1 |
A |
C |
19: 3,949,099 (GRCm39) |
F397V |
probably damaging |
Het |
Tex36 |
G |
A |
7: 133,197,012 (GRCm39) |
S35F |
possibly damaging |
Het |
Tsen54 |
G |
T |
11: 115,705,760 (GRCm39) |
A26S |
unknown |
Het |
Usp50 |
T |
A |
2: 126,622,250 (GRCm39) |
|
probably null |
Het |
Vmn2r5 |
A |
T |
3: 64,398,709 (GRCm39) |
F757I |
probably benign |
Het |
Zbbx |
T |
C |
3: 75,062,749 (GRCm39) |
T3A |
possibly damaging |
Het |
Zfp28 |
T |
A |
7: 6,392,828 (GRCm39) |
M168K |
probably benign |
Het |
Zfp568 |
G |
T |
7: 29,722,551 (GRCm39) |
G499W |
probably damaging |
Het |
Zfp7 |
C |
G |
15: 76,775,131 (GRCm39) |
P391R |
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 |
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 |
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'- TCACAGTTCTTTGGGAGTACC -3'
(R):5'- AGACCAGCTGCTTTCGATTGC -3'
Sequencing Primer
(F):5'- GGAGTACCTCTTGGTTTACAGTCC -3'
(R):5'- TCGATTGCTACTCACTGAAGG -3'
|
Posted On |
2020-06-30 |