Incidental Mutation 'R6984:Psd3'
| ID |
542841 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Psd3
|
| Ensembl Gene |
ENSMUSG00000030465 |
| Gene Name |
pleckstrin and Sec7 domain containing 3 |
| Synonyms |
EFA6D, 4931420C21Rik |
| MMRRC Submission |
045091-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.093)
|
| Stock # |
R6984 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
68141734-68664679 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 68270697 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 21
(V21A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112545
(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
|
| SMART Domains |
Protein: ENSMUSP00000041339
Gene: ENSMUSG00000030465
| 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 |
possibly damaging
Transcript: ENSMUST00000059374
AA Change: V21A
PolyPhen 2
Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000060306
Gene: ENSMUSG00000030465
AA Change: V21A
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
114 |
228 |
3.85e-15 |
SMART |
|
Blast:Sec7
|
247 |
305 |
1e-8 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000093468
|
| SMART Domains |
Protein: ENSMUSP00000091178
Gene: ENSMUSG00000030465
| 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
|
| SMART Domains |
Protein: ENSMUSP00000091179
Gene: ENSMUSG00000030465
| 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
|
| SMART Domains |
Protein: ENSMUSP00000096293
Gene: ENSMUSG00000030465
| 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: V21A
PolyPhen 2
Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000112545
Gene: ENSMUSG00000030465
AA Change: V21A
| 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
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212960
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.1%
- 20x: 96.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3425401B19Rik |
A |
G |
14: 32,383,937 (GRCm39) |
V676A |
probably benign |
Het |
| Abcb5 |
A |
G |
12: 118,891,012 (GRCm39) |
M495T |
possibly damaging |
Het |
| Aktip |
A |
T |
8: 91,853,346 (GRCm39) |
F124I |
probably damaging |
Het |
| Alpk2 |
C |
A |
18: 65,438,749 (GRCm39) |
Q1348H |
possibly damaging |
Het |
| Apol11b |
T |
C |
15: 77,519,546 (GRCm39) |
D178G |
probably benign |
Het |
| Asb15 |
A |
T |
6: 24,566,336 (GRCm39) |
I430F |
probably benign |
Het |
| Chd2 |
A |
C |
7: 73,134,159 (GRCm39) |
Y729* |
probably null |
Het |
| Cpb2 |
T |
C |
14: 75,502,898 (GRCm39) |
V159A |
possibly damaging |
Het |
| Csf2rb |
A |
G |
15: 78,229,719 (GRCm39) |
S429G |
probably damaging |
Het |
| Ctsw |
C |
T |
19: 5,516,646 (GRCm39) |
R133H |
probably damaging |
Het |
| Dhx30 |
A |
G |
9: 109,920,485 (GRCm39) |
|
probably null |
Het |
| Dnah8 |
G |
A |
17: 30,958,712 (GRCm39) |
G2185R |
probably damaging |
Het |
| Ell2 |
C |
A |
13: 75,910,006 (GRCm39) |
L119M |
probably damaging |
Het |
| Enthd1 |
A |
T |
15: 80,444,309 (GRCm39) |
I82N |
probably damaging |
Het |
| Epx |
T |
A |
11: 87,759,424 (GRCm39) |
D555V |
probably damaging |
Het |
| Fhdc1 |
T |
G |
3: 84,351,823 (GRCm39) |
D1134A |
possibly damaging |
Het |
| Fip1l1 |
T |
A |
5: 74,702,734 (GRCm39) |
V82D |
probably damaging |
Het |
| Fn1 |
A |
T |
1: 71,665,238 (GRCm39) |
F960I |
probably damaging |
Het |
| Gsdmc2 |
A |
T |
15: 63,696,898 (GRCm39) |
Y424* |
probably null |
Het |
| Hsd3b7 |
T |
A |
7: 127,400,717 (GRCm39) |
I57N |
probably damaging |
Het |
| Ighv10-1 |
A |
T |
12: 114,442,702 (GRCm39) |
D94E |
possibly damaging |
Het |
| Ighv3-3 |
A |
G |
12: 114,160,350 (GRCm39) |
V20A |
possibly damaging |
Het |
| Kcnh3 |
G |
T |
15: 99,126,433 (GRCm39) |
C220F |
probably benign |
Het |
| Kctd16 |
G |
A |
18: 40,390,101 (GRCm39) |
|
probably benign |
Het |
| L3mbtl3 |
T |
C |
10: 26,158,753 (GRCm39) |
K632E |
unknown |
Het |
| Lama1 |
G |
A |
17: 68,086,107 (GRCm39) |
V1449M |
|
Het |
| Lgr6 |
A |
G |
1: 134,915,740 (GRCm39) |
I336T |
possibly damaging |
Het |
| Lrp1b |
A |
C |
2: 40,712,640 (GRCm39) |
D3117E |
probably damaging |
Het |
| Lrrc4b |
A |
T |
7: 44,110,722 (GRCm39) |
E198V |
possibly damaging |
Het |
| Map2 |
A |
T |
1: 66,454,395 (GRCm39) |
D1095V |
possibly damaging |
Het |
| Mapk8ip1 |
A |
T |
2: 92,217,072 (GRCm39) |
S417T |
probably damaging |
Het |
| Med24 |
A |
G |
11: 98,609,368 (GRCm39) |
V94A |
possibly damaging |
Het |
| Megf11 |
A |
G |
9: 64,593,734 (GRCm39) |
I637V |
probably benign |
Het |
| Mpp7 |
C |
T |
18: 7,441,623 (GRCm39) |
G182D |
probably damaging |
Het |
| Myh15 |
G |
A |
16: 48,930,775 (GRCm39) |
G583D |
probably damaging |
Het |
| Naa15 |
A |
G |
3: 51,380,021 (GRCm39) |
T750A |
probably benign |
Het |
| Or10d5b |
C |
T |
9: 39,886,030 (GRCm39) |
V30I |
unknown |
Het |
| Or10v5 |
T |
A |
19: 11,805,668 (GRCm39) |
T241S |
probably damaging |
Het |
| Or1e30 |
G |
A |
11: 73,678,603 (GRCm39) |
V280M |
possibly damaging |
Het |
| Pgm1 |
A |
T |
4: 99,786,851 (GRCm39) |
Q30L |
probably benign |
Het |
| Pi4kb |
C |
T |
3: 94,904,245 (GRCm39) |
R238C |
probably damaging |
Het |
| Plec |
T |
C |
15: 76,059,527 (GRCm39) |
E3497G |
probably damaging |
Het |
| Plpp4 |
C |
T |
7: 128,992,616 (GRCm39) |
A218V |
possibly damaging |
Het |
| Plxnc1 |
G |
A |
10: 94,667,392 (GRCm39) |
A1094V |
probably damaging |
Het |
| Pom121l2 |
A |
T |
13: 22,166,191 (GRCm39) |
D154V |
probably benign |
Het |
| Prrt4 |
G |
T |
6: 29,171,429 (GRCm39) |
P341Q |
probably benign |
Het |
| Rhot1 |
T |
A |
11: 80,124,310 (GRCm39) |
C157* |
probably null |
Het |
| Rnase9 |
C |
T |
14: 51,276,673 (GRCm39) |
V102M |
probably benign |
Het |
| Rpgrip1l |
A |
C |
8: 91,987,426 (GRCm39) |
M877R |
probably benign |
Het |
| Ryr3 |
T |
C |
2: 112,705,436 (GRCm39) |
Y806C |
probably damaging |
Het |
| Smox |
C |
T |
2: 131,364,031 (GRCm39) |
A45V |
possibly damaging |
Het |
| Sympk |
A |
G |
7: 18,771,968 (GRCm39) |
D344G |
probably benign |
Het |
| Tcf12 |
G |
A |
9: 71,914,041 (GRCm39) |
Q76* |
probably null |
Het |
| Ticam1 |
C |
T |
17: 56,576,900 (GRCm39) |
E732K |
probably benign |
Het |
| Trgv6 |
G |
T |
13: 19,374,814 (GRCm39) |
G40W |
possibly damaging |
Het |
| Ttc19 |
A |
G |
11: 62,204,863 (GRCm39) |
Y318C |
probably damaging |
Het |
| Vmn2r17 |
T |
A |
5: 109,600,533 (GRCm39) |
D610E |
probably benign |
Het |
| Wdr24 |
A |
G |
17: 26,047,209 (GRCm39) |
T701A |
possibly damaging |
Het |
| Zfp268 |
T |
C |
4: 145,347,186 (GRCm39) |
L30P |
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 |
|
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'- CTGTCACTGCATATCAGACGC -3'
(R):5'- TAAGCTAAGGCGATCGATCTCAG -3'
Sequencing Primer
(F):5'- ACTGCATATCAGACGCTGGCAG -3'
(R):5'- ATCGATCTCAGAGCTGCTCAG -3'
|
| Posted On |
2018-11-28 |
Incidental Mutation