Incidental Mutation 'R9241:Psd3'
| ID |
700745 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Psd3
|
| Ensembl Gene |
ENSMUSG00000030465 |
| Gene Name |
pleckstrin and Sec7 domain containing 3 |
| Synonyms |
EFA6D, 4931420C21Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.093)
|
| Stock # |
R9241 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
68141734-68664679 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 68415967 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 357
(N357K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000096293
(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: N357K
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000041339
Gene: ENSMUSG00000030465
AA Change: N357K
| 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: N357K
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000091179
Gene: ENSMUSG00000030465
AA Change: N357K
| 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: N357K
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000096293
Gene: ENSMUSG00000030465
AA Change: N357K
| 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: N390K
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212960
AA Change: N643K
PolyPhen 2
Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
98% (51/52) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700030J22Rik |
A |
G |
8: 117,697,937 (GRCm39) |
L390P |
probably damaging |
Het |
| AL732309.1 |
T |
A |
2: 25,135,919 (GRCm39) |
E98D |
possibly damaging |
Het |
| Aldh2 |
T |
C |
5: 121,710,220 (GRCm39) |
I372V |
probably benign |
Het |
| Amph |
G |
T |
13: 19,278,972 (GRCm39) |
R149L |
probably damaging |
Het |
| Ano6 |
T |
C |
15: 95,688,887 (GRCm39) |
V8A |
probably benign |
Het |
| Aox4 |
T |
A |
1: 58,291,345 (GRCm39) |
V821E |
probably damaging |
Het |
| Baz2b |
T |
A |
2: 59,743,993 (GRCm39) |
Q1504L |
probably benign |
Het |
| Cdcp1 |
C |
A |
9: 123,014,301 (GRCm39) |
G158W |
probably damaging |
Het |
| Cryge |
T |
G |
1: 65,088,018 (GRCm39) |
D97A |
possibly damaging |
Het |
| Dusp9 |
TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG |
TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG |
X: 72,684,217 (GRCm39) |
|
probably benign |
Het |
| Dyrk1b |
A |
G |
7: 27,886,058 (GRCm39) |
T594A |
probably benign |
Het |
| Emilin3 |
T |
C |
2: 160,750,177 (GRCm39) |
D477G |
possibly damaging |
Het |
| Fat2 |
T |
C |
11: 55,147,566 (GRCm39) |
H3892R |
probably benign |
Het |
| Fktn |
G |
A |
4: 53,734,854 (GRCm39) |
G125D |
probably benign |
Het |
| Gm9922 |
A |
T |
14: 101,967,220 (GRCm39) |
S11T |
unknown |
Het |
| Hcfc2 |
T |
C |
10: 82,568,485 (GRCm39) |
V43A |
probably benign |
Het |
| Hcn1 |
T |
C |
13: 117,793,249 (GRCm39) |
F167S |
probably benign |
Het |
| Jag1 |
T |
C |
2: 136,926,507 (GRCm39) |
I1012M |
probably damaging |
Het |
| Kash5 |
A |
G |
7: 44,833,313 (GRCm39) |
I603T |
probably benign |
Het |
| Lepr |
G |
T |
4: 101,671,788 (GRCm39) |
M937I |
probably benign |
Het |
| Macf1 |
T |
C |
4: 123,271,952 (GRCm39) |
D6532G |
probably damaging |
Het |
| Mapk13 |
A |
T |
17: 28,990,187 (GRCm39) |
D102V |
probably damaging |
Het |
| Mapt |
A |
T |
11: 104,189,797 (GRCm39) |
T272S |
probably benign |
Het |
| Mfap3 |
A |
G |
11: 57,420,672 (GRCm39) |
T218A |
probably damaging |
Het |
| Mki67 |
A |
T |
7: 135,297,653 (GRCm39) |
H2460Q |
possibly damaging |
Het |
| Nalcn |
G |
T |
14: 123,809,429 (GRCm39) |
P241Q |
probably benign |
Het |
| Nup50 |
A |
G |
15: 84,822,611 (GRCm39) |
T378A |
possibly damaging |
Het |
| Oprl1 |
C |
T |
2: 181,360,405 (GRCm39) |
R154C |
probably damaging |
Het |
| Or2n1e |
A |
G |
17: 38,585,781 (GRCm39) |
M40V |
probably benign |
Het |
| Pcdha8 |
C |
T |
18: 37,127,008 (GRCm39) |
R497W |
probably damaging |
Het |
| Pik3c2a |
A |
G |
7: 116,017,115 (GRCm39) |
V214A |
probably benign |
Het |
| Plekha5 |
T |
C |
6: 140,525,204 (GRCm39) |
|
probably null |
Het |
| Pole3 |
A |
G |
4: 62,442,845 (GRCm39) |
|
probably benign |
Het |
| Prkn |
A |
T |
17: 11,456,382 (GRCm39) |
I69L |
probably benign |
Het |
| Psme4 |
A |
T |
11: 30,815,576 (GRCm39) |
D1696V |
probably damaging |
Het |
| Reln |
C |
T |
5: 22,174,067 (GRCm39) |
R2012Q |
probably damaging |
Het |
| Saxo2 |
T |
C |
7: 82,284,250 (GRCm39) |
T203A |
probably benign |
Het |
| Scgb1a1 |
T |
C |
19: 9,065,293 (GRCm39) |
|
probably benign |
Het |
| Selplg |
T |
A |
5: 113,957,647 (GRCm39) |
N220Y |
possibly damaging |
Het |
| Septin9 |
C |
A |
11: 117,109,724 (GRCm39) |
R15S |
probably benign |
Het |
| Slc4a11 |
C |
T |
2: 130,533,664 (GRCm39) |
A100T |
probably damaging |
Het |
| Smarca4 |
T |
G |
9: 21,550,604 (GRCm39) |
S446A |
possibly damaging |
Het |
| Smc1b |
T |
C |
15: 84,976,209 (GRCm39) |
N833D |
probably benign |
Het |
| Son |
T |
A |
16: 91,454,122 (GRCm39) |
D956E |
probably damaging |
Het |
| Sorl1 |
A |
T |
9: 41,885,420 (GRCm39) |
Y2060* |
probably null |
Het |
| Tesmin |
T |
C |
19: 3,439,010 (GRCm39) |
F21L |
probably benign |
Het |
| Tmem200c |
G |
T |
17: 69,144,161 (GRCm39) |
|
probably benign |
Het |
| Tnk2 |
A |
C |
16: 32,488,916 (GRCm39) |
D252A |
probably damaging |
Het |
| Tpcn1 |
C |
T |
5: 120,691,558 (GRCm39) |
V299I |
probably benign |
Het |
| Trpv1 |
A |
G |
11: 73,151,182 (GRCm39) |
N790S |
probably benign |
Het |
| Zfhx4 |
C |
T |
3: 5,308,697 (GRCm39) |
T641I |
probably damaging |
Het |
| Zfp563 |
A |
T |
17: 33,321,520 (GRCm39) |
Q45L |
probably benign |
Het |
| Zswim9 |
A |
T |
7: 13,003,360 (GRCm39) |
D163E |
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 |
|
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 |
|
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'- CAGGGTTAATTCCAGGTAAATGG -3'
(R):5'- CAAGGAGTTTGCCAAACGG -3'
Sequencing Primer
(F):5'- CCAGGTAAATGGAGTCGATCTTG -3'
(R):5'- AAGTCATTCTAGCCCAGCTTGTG -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation