Incidental Mutation 'R6908:Psd3'
ID |
538867 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Psd3
|
Ensembl Gene |
ENSMUSG00000030465 |
Gene Name |
pleckstrin and Sec7 domain containing 3 |
Synonyms |
EFA6D, 4931420C21Rik |
MMRRC Submission |
045000-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.093)
|
Stock # |
R6908 (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 T
at 68416829 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Lysine
at position 356
(I356K)
|
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: I70K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000041339 Gene: ENSMUSG00000030465 AA Change: I70K
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: I70K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000091179 Gene: ENSMUSG00000030465 AA Change: I70K
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: I70K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000096293 Gene: ENSMUSG00000030465 AA Change: I70K
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: ENSMUST00000212505
AA Change: I103K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000212960
AA Change: I356K
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.2%
|
Validation Efficiency |
95% (52/55) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abi3bp |
T |
C |
16: 56,477,668 (GRCm39) |
I1197T |
probably benign |
Het |
Atp2a1 |
A |
G |
7: 126,047,707 (GRCm39) |
|
probably null |
Het |
B3glct |
T |
C |
5: 149,619,941 (GRCm39) |
|
probably null |
Het |
Bbs9 |
T |
G |
9: 22,479,019 (GRCm39) |
I154S |
probably damaging |
Het |
Brip1 |
T |
C |
11: 85,968,710 (GRCm39) |
Y825C |
probably damaging |
Het |
Ccdc186 |
A |
T |
19: 56,780,371 (GRCm39) |
|
probably null |
Het |
Celf6 |
T |
C |
9: 59,511,106 (GRCm39) |
V349A |
probably benign |
Het |
Chd9 |
A |
G |
8: 91,683,044 (GRCm39) |
T495A |
probably benign |
Het |
Cxxc1 |
G |
A |
18: 74,353,630 (GRCm39) |
C546Y |
probably damaging |
Het |
Cxxc5 |
T |
C |
18: 35,992,268 (GRCm39) |
V223A |
probably damaging |
Het |
Dlc1 |
A |
G |
8: 37,404,841 (GRCm39) |
F316S |
probably benign |
Het |
Dnajc12 |
C |
A |
10: 63,233,104 (GRCm39) |
Q82K |
probably benign |
Het |
Dock8 |
G |
A |
19: 25,165,746 (GRCm39) |
E1877K |
probably damaging |
Het |
Epha3 |
T |
G |
16: 63,418,612 (GRCm39) |
H611P |
probably damaging |
Het |
Fpr-rs6 |
C |
A |
17: 20,402,701 (GRCm39) |
C220F |
probably damaging |
Het |
Fryl |
A |
G |
5: 73,179,554 (GRCm39) |
L2951P |
probably damaging |
Het |
Gbp10 |
T |
G |
5: 105,368,898 (GRCm39) |
T314P |
probably damaging |
Het |
Hbb-bs |
T |
C |
7: 103,476,741 (GRCm39) |
N77D |
probably benign |
Het |
Ints13 |
A |
T |
6: 146,456,531 (GRCm39) |
D438E |
probably damaging |
Het |
Itgb6 |
C |
T |
2: 60,480,365 (GRCm39) |
V324M |
probably benign |
Het |
Kdm7a |
G |
T |
6: 39,121,373 (GRCm39) |
L861M |
possibly damaging |
Het |
Kirrel3 |
A |
G |
9: 34,924,697 (GRCm39) |
T302A |
possibly damaging |
Het |
Lama2 |
A |
T |
10: 26,907,192 (GRCm39) |
|
probably null |
Het |
Lrp2 |
A |
T |
2: 69,302,709 (GRCm39) |
C3007S |
probably damaging |
Het |
Lypd3 |
G |
C |
7: 24,337,858 (GRCm39) |
G75R |
probably damaging |
Het |
Mastl |
T |
C |
2: 23,045,988 (GRCm39) |
|
probably benign |
Het |
Mcf2l |
T |
C |
8: 13,068,919 (GRCm39) |
V1087A |
probably benign |
Het |
Mcmdc2 |
C |
A |
1: 10,001,003 (GRCm39) |
|
probably null |
Het |
Ms4a3 |
A |
G |
19: 11,615,659 (GRCm39) |
I39T |
probably damaging |
Het |
Mylk |
T |
G |
16: 34,700,643 (GRCm39) |
C495G |
probably benign |
Het |
Myo10 |
A |
G |
15: 25,804,469 (GRCm39) |
D1588G |
probably damaging |
Het |
Myo15a |
A |
T |
11: 60,396,832 (GRCm39) |
T2634S |
probably damaging |
Het |
Nlrp1b |
T |
C |
11: 71,108,122 (GRCm39) |
I460V |
probably benign |
Het |
Nmt1 |
T |
G |
11: 102,949,080 (GRCm39) |
S312A |
possibly damaging |
Het |
Nynrin |
T |
G |
14: 56,101,335 (GRCm39) |
S335A |
probably benign |
Het |
Or2d4 |
T |
C |
7: 106,543,839 (GRCm39) |
Y123C |
possibly damaging |
Het |
Paxip1 |
T |
C |
5: 27,996,222 (GRCm39) |
Y19C |
possibly damaging |
Het |
Pcdhb2 |
G |
T |
18: 37,429,577 (GRCm39) |
A517S |
probably damaging |
Het |
Pkd2l1 |
A |
G |
19: 44,140,885 (GRCm39) |
I559T |
probably damaging |
Het |
Plec |
G |
A |
15: 76,070,081 (GRCm39) |
Q806* |
probably null |
Het |
Prss51 |
C |
T |
14: 64,333,601 (GRCm39) |
A70V |
probably benign |
Het |
Ptprn2 |
A |
T |
12: 116,852,508 (GRCm39) |
I522F |
probably benign |
Het |
Rab39 |
T |
C |
9: 53,617,369 (GRCm39) |
D16G |
probably damaging |
Het |
Ralgps1 |
T |
C |
2: 33,033,112 (GRCm39) |
Q439R |
probably benign |
Het |
Rapgef2 |
A |
T |
3: 79,011,370 (GRCm39) |
D238E |
probably benign |
Het |
Ripor2 |
G |
A |
13: 24,890,215 (GRCm39) |
G697S |
probably damaging |
Het |
Scn11a |
A |
T |
9: 119,621,492 (GRCm39) |
F642I |
probably damaging |
Het |
Serinc4 |
G |
A |
2: 121,284,086 (GRCm39) |
T310I |
probably benign |
Het |
Sfpq |
GCCGCCGCAGCAGCCTCCGCCGCAGCAGCC |
GCCGCCGCAGCAGCC |
4: 126,915,419 (GRCm39) |
|
probably benign |
Het |
Slc36a3 |
T |
C |
11: 55,040,712 (GRCm39) |
|
probably benign |
Het |
Smc1b |
A |
G |
15: 84,991,211 (GRCm39) |
S656P |
probably damaging |
Het |
Sorbs1 |
A |
G |
19: 40,340,776 (GRCm39) |
S455P |
probably damaging |
Het |
Ttn |
C |
A |
2: 76,720,202 (GRCm39) |
|
probably benign |
Het |
Tyw5 |
T |
C |
1: 57,440,682 (GRCm39) |
R27G |
probably damaging |
Het |
Vmn1r209 |
T |
C |
13: 22,990,400 (GRCm39) |
T97A |
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 |
|
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'- GGCTCTCTGTGGCTTATGAC -3'
(R):5'- GTGATCATGGAGGAAGCACTTTAC -3'
Sequencing Primer
(F):5'- ATGACTGGCAGTACTCAGTTC -3'
(R):5'- TGGAGGAAGCACTTTACTCCCAC -3'
|
Posted On |
2018-11-06 |