Incidental Mutation 'R7357:Psd3'
ID |
571031 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Psd3
|
Ensembl Gene |
ENSMUSG00000030465 |
Gene Name |
pleckstrin and Sec7 domain containing 3 |
Synonyms |
EFA6D, 4931420C21Rik |
MMRRC Submission |
045443-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.093)
|
Stock # |
R7357 (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 C
at 68574149 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Glutamic Acid
at position 11
(K11E)
|
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: K11E
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000137221 Gene: ENSMUSG00000095306 AA Change: K11E
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: K11E
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000212960
AA Change: K11E
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
Meta Mutation Damage Score |
0.0846 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
Validation Efficiency |
97% (64/66) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
6430550D23Rik |
A |
T |
2: 155,845,787 (GRCm39) |
H23Q |
unknown |
Het |
9530068E07Rik |
A |
T |
11: 52,297,821 (GRCm39) |
K233I |
probably damaging |
Het |
Aldh1l2 |
T |
C |
10: 83,350,408 (GRCm39) |
M320V |
possibly damaging |
Het |
C2cd3 |
A |
G |
7: 100,079,310 (GRCm39) |
N838S |
|
Het |
Cacna1s |
T |
C |
1: 135,998,759 (GRCm39) |
F218S |
probably damaging |
Het |
Carmil3 |
G |
T |
14: 55,728,590 (GRCm39) |
|
probably benign |
Het |
Cd300a |
A |
T |
11: 114,784,153 (GRCm39) |
T54S |
probably benign |
Het |
Celf3 |
G |
A |
3: 94,387,637 (GRCm39) |
E70K |
probably damaging |
Het |
Celsr1 |
A |
C |
15: 85,914,715 (GRCm39) |
M1086R |
probably benign |
Het |
Ces2f |
G |
A |
8: 105,676,595 (GRCm39) |
M96I |
probably benign |
Het |
Chrdl2 |
G |
A |
7: 99,678,414 (GRCm39) |
V329I |
probably benign |
Het |
Ctc1 |
T |
A |
11: 68,925,568 (GRCm39) |
L1035Q |
probably benign |
Het |
Dbi |
A |
G |
1: 120,047,623 (GRCm39) |
|
probably null |
Het |
Dock3 |
A |
G |
9: 106,882,568 (GRCm39) |
I405T |
probably benign |
Het |
Dpp4 |
A |
T |
2: 62,217,421 (GRCm39) |
W59R |
probably benign |
Het |
Dsg3 |
T |
A |
18: 20,672,840 (GRCm39) |
I837N |
probably damaging |
Het |
Fbxw15 |
A |
G |
9: 109,387,308 (GRCm39) |
V229A |
probably benign |
Het |
Fermt3 |
T |
C |
19: 6,980,211 (GRCm39) |
T395A |
probably benign |
Het |
Focad |
A |
T |
4: 88,147,572 (GRCm39) |
I404F |
probably benign |
Het |
Gm8104 |
T |
C |
14: 42,959,068 (GRCm39) |
I86T |
probably damaging |
Het |
Gm9857 |
A |
C |
3: 108,847,478 (GRCm39) |
L95R |
unknown |
Het |
Hoxa1 |
A |
T |
6: 52,133,929 (GRCm39) |
S266T |
probably benign |
Het |
Kif19b |
A |
G |
5: 140,480,806 (GRCm39) |
R979G |
possibly damaging |
Het |
Leng8 |
T |
A |
7: 4,147,932 (GRCm39) |
Y625* |
probably null |
Het |
Mast3 |
A |
G |
8: 71,237,503 (GRCm39) |
V557A |
probably damaging |
Het |
Morc1 |
T |
C |
16: 48,442,953 (GRCm39) |
F813L |
probably benign |
Het |
Ntf3 |
T |
A |
6: 126,078,961 (GRCm39) |
I182F |
probably damaging |
Het |
Nup153 |
G |
T |
13: 46,870,642 (GRCm39) |
A91E |
probably benign |
Het |
Or13l2 |
G |
C |
3: 97,317,971 (GRCm39) |
N175K |
probably damaging |
Het |
Or52h1 |
A |
T |
7: 103,828,978 (GRCm39) |
D212E |
probably damaging |
Het |
Pamr1 |
G |
A |
2: 102,417,049 (GRCm39) |
W120* |
probably null |
Het |
Pcsk1 |
A |
G |
13: 75,274,079 (GRCm39) |
N436S |
probably damaging |
Het |
Pde4dip |
T |
C |
3: 97,622,857 (GRCm39) |
K1451E |
probably benign |
Het |
Pebp4 |
G |
A |
14: 70,285,864 (GRCm39) |
V176I |
possibly damaging |
Het |
Phgdh |
G |
A |
3: 98,247,138 (GRCm39) |
A4V |
probably benign |
Het |
Pik3c2g |
T |
C |
6: 139,610,791 (GRCm39) |
|
probably null |
Het |
Ppic |
T |
C |
18: 53,544,139 (GRCm39) |
Y82C |
probably damaging |
Het |
Ppip5k2 |
A |
G |
1: 97,686,941 (GRCm39) |
V94A |
possibly damaging |
Het |
Ppp1r9b |
T |
C |
11: 94,895,424 (GRCm39) |
V704A |
probably benign |
Het |
Pramel6 |
G |
T |
2: 87,340,856 (GRCm39) |
R396L |
not run |
Het |
Prss48 |
A |
T |
3: 85,904,528 (GRCm39) |
D223E |
probably damaging |
Het |
Rabgap1l |
T |
C |
1: 160,169,608 (GRCm39) |
K780E |
probably damaging |
Het |
Retreg1 |
A |
T |
15: 25,972,029 (GRCm39) |
D323V |
probably damaging |
Het |
Samd11 |
A |
T |
4: 156,340,067 (GRCm39) |
|
probably null |
Het |
Sec14l3 |
T |
A |
11: 4,020,127 (GRCm39) |
F188Y |
probably benign |
Het |
Serpina5 |
A |
T |
12: 104,069,639 (GRCm39) |
T284S |
possibly damaging |
Het |
Setx |
A |
G |
2: 29,020,313 (GRCm39) |
D100G |
probably benign |
Het |
Sis |
A |
T |
3: 72,832,404 (GRCm39) |
V1035D |
probably damaging |
Het |
Slco4a1 |
A |
G |
2: 180,113,930 (GRCm39) |
I456V |
probably benign |
Het |
Snx14 |
A |
T |
9: 88,286,369 (GRCm39) |
C393S |
possibly damaging |
Het |
Stil |
T |
C |
4: 114,871,423 (GRCm39) |
|
probably null |
Het |
Sult6b1 |
A |
G |
17: 79,202,059 (GRCm39) |
S148P |
probably damaging |
Het |
Sycp2 |
G |
T |
2: 178,045,597 (GRCm39) |
|
probably null |
Het |
Tesmin |
T |
C |
19: 3,447,042 (GRCm39) |
I273T |
probably benign |
Het |
Tmem39a |
T |
A |
16: 38,406,592 (GRCm39) |
Y310N |
probably damaging |
Het |
Trp53bp1 |
A |
T |
2: 121,041,781 (GRCm39) |
D1258E |
probably damaging |
Het |
Ttc12 |
A |
C |
9: 49,349,687 (GRCm39) |
D703E |
probably benign |
Het |
Unc13c |
TATAA |
TATAATAA |
9: 73,840,810 (GRCm39) |
|
probably benign |
Het |
Unc13c |
ATA |
ATAGTA |
9: 73,840,811 (GRCm39) |
|
probably benign |
Het |
Usp18 |
T |
C |
6: 121,230,808 (GRCm39) |
I79T |
possibly damaging |
Het |
Usp9y |
A |
T |
Y: 1,333,656 (GRCm39) |
D1596E |
possibly damaging |
Het |
Vmn2r109 |
A |
T |
17: 20,761,536 (GRCm39) |
V607E |
probably damaging |
Het |
Vwa8 |
G |
A |
14: 79,275,641 (GRCm39) |
R808K |
probably null |
Het |
Zfp248 |
A |
G |
6: 118,406,618 (GRCm39) |
Y324H |
probably damaging |
Het |
Zfp513 |
G |
A |
5: 31,357,132 (GRCm39) |
P387S |
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 |
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'- AGCCCTGCGTACATCTGAAG -3'
(R):5'- TTCTCCAGCAAACACAATTCTCTG -3'
Sequencing Primer
(F):5'- CTGCGTACATCTGAAGTTCCAGG -3'
(R):5'- CCATTGAAGAGTCCCCCTG -3'
|
Posted On |
2019-09-13 |