Incidental Mutation 'R7297:Psd3'
ID |
566742 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Psd3
|
Ensembl Gene |
ENSMUSG00000030465 |
Gene Name |
pleckstrin and Sec7 domain containing 3 |
Synonyms |
EFA6D, 4931420C21Rik |
MMRRC Submission |
045401-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.093)
|
Stock # |
R7297 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
68141734-68664679 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 68573686 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Arginine
at position 165
(K165R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000148783
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000178529]
[ENSMUST00000212960]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000178529
AA Change: K165R
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000137221 Gene: ENSMUSG00000095306 AA Change: K165R
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 benign
Transcript: ENSMUST00000178529
AA Change: K165R
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000212960
AA Change: K165R
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 74 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca2 |
A |
G |
2: 25,332,088 (GRCm39) |
D1400G |
probably benign |
Het |
Abca6 |
C |
T |
11: 110,073,852 (GRCm39) |
|
probably null |
Het |
Adh4 |
A |
G |
3: 138,134,901 (GRCm39) |
I358M |
possibly damaging |
Het |
Akap6 |
T |
G |
12: 52,934,147 (GRCm39) |
D546E |
probably benign |
Het |
Arap3 |
G |
A |
18: 38,106,616 (GRCm39) |
A1409V |
possibly damaging |
Het |
Arhgap22 |
C |
T |
14: 32,993,890 (GRCm39) |
R68* |
probably null |
Het |
Arhgef4 |
A |
T |
1: 34,846,273 (GRCm39) |
D207V |
probably damaging |
Het |
Asb15 |
A |
G |
6: 24,566,462 (GRCm39) |
T472A |
probably damaging |
Het |
Ascl1 |
A |
T |
10: 87,328,326 (GRCm39) |
S209T |
probably damaging |
Het |
Asxl1 |
T |
C |
2: 153,239,355 (GRCm39) |
V382A |
probably benign |
Het |
Atp11a |
T |
C |
8: 12,856,774 (GRCm39) |
|
probably null |
Het |
Calu |
C |
T |
6: 29,356,554 (GRCm39) |
R27* |
probably null |
Het |
Cdh20 |
A |
G |
1: 104,898,598 (GRCm39) |
T442A |
probably benign |
Het |
Chrm3 |
T |
A |
13: 9,927,869 (GRCm39) |
Q389L |
probably benign |
Het |
Cntnap1 |
A |
G |
11: 101,079,460 (GRCm39) |
T1233A |
probably benign |
Het |
Cwc15 |
G |
A |
9: 14,421,525 (GRCm39) |
C197Y |
probably damaging |
Het |
D6Ertd527e |
C |
G |
6: 87,088,506 (GRCm39) |
T223S |
unknown |
Het |
Dennd3 |
C |
T |
15: 73,429,459 (GRCm39) |
T914I |
probably damaging |
Het |
Dlx3 |
C |
A |
11: 95,011,276 (GRCm39) |
Y43* |
probably null |
Het |
Dnah17 |
A |
T |
11: 117,946,556 (GRCm39) |
|
probably null |
Het |
Dnah17 |
A |
G |
11: 117,994,182 (GRCm39) |
F1081S |
probably damaging |
Het |
Dpp10 |
G |
A |
1: 123,281,157 (GRCm39) |
Q631* |
probably null |
Het |
Dsel |
T |
A |
1: 111,789,506 (GRCm39) |
D343V |
probably damaging |
Het |
Efcab12 |
T |
C |
6: 115,787,997 (GRCm39) |
D655G |
possibly damaging |
Het |
Epha8 |
T |
A |
4: 136,673,224 (GRCm39) |
I187L |
probably damaging |
Het |
Exosc10 |
A |
G |
4: 148,664,834 (GRCm39) |
K781E |
probably damaging |
Het |
Exosc5 |
T |
C |
7: 25,365,751 (GRCm39) |
L200P |
probably benign |
Het |
Faiml |
T |
C |
9: 99,111,666 (GRCm39) |
E131G |
probably damaging |
Het |
Gm5145 |
G |
A |
17: 20,790,993 (GRCm39) |
V124I |
probably benign |
Het |
Grm7 |
T |
C |
6: 110,622,974 (GRCm39) |
V49A |
probably benign |
Het |
Gtf2e1 |
T |
C |
16: 37,356,427 (GRCm39) |
D35G |
probably damaging |
Het |
Heatr1 |
C |
T |
13: 12,435,941 (GRCm39) |
Q1160* |
probably null |
Het |
Herc2 |
T |
A |
7: 55,786,406 (GRCm39) |
C1584S |
probably benign |
Het |
Hsd17b3 |
T |
C |
13: 64,224,165 (GRCm39) |
I88V |
probably damaging |
Het |
Hspa14 |
A |
C |
2: 3,499,179 (GRCm39) |
L205R |
possibly damaging |
Het |
Ifna11 |
A |
C |
4: 88,738,662 (GRCm39) |
E156A |
possibly damaging |
Het |
Krt87 |
T |
C |
15: 101,387,528 (GRCm39) |
D170G |
probably benign |
Het |
Mas1 |
T |
C |
17: 13,060,745 (GRCm39) |
Y226C |
probably damaging |
Het |
Micall1 |
T |
C |
15: 79,005,097 (GRCm39) |
F190L |
unknown |
Het |
Msi2 |
A |
T |
11: 88,370,864 (GRCm39) |
L141Q |
probably damaging |
Het |
Nfkbib |
T |
C |
7: 28,465,768 (GRCm39) |
D27G |
probably benign |
Het |
Nlrp9b |
A |
G |
7: 19,783,438 (GRCm39) |
D927G |
possibly damaging |
Het |
Nrg3 |
T |
C |
14: 38,092,896 (GRCm39) |
D579G |
probably benign |
Het |
Nutm1 |
G |
A |
2: 112,080,401 (GRCm39) |
R505C |
probably damaging |
Het |
Or8d1 |
G |
A |
9: 38,767,245 (GRCm39) |
D296N |
probably damaging |
Het |
Or8h6 |
A |
T |
2: 86,703,980 (GRCm39) |
V29E |
probably damaging |
Het |
Parp4 |
C |
T |
14: 56,885,138 (GRCm39) |
P1406S |
not run |
Het |
Pkib |
A |
T |
10: 57,612,422 (GRCm39) |
Q101L |
possibly damaging |
Het |
Plat |
C |
T |
8: 23,265,713 (GRCm39) |
T252I |
probably benign |
Het |
Ppm1d |
A |
T |
11: 85,236,821 (GRCm39) |
E533D |
probably damaging |
Het |
Psg29 |
T |
A |
7: 16,944,616 (GRCm39) |
Y375* |
probably null |
Het |
Pus7 |
A |
T |
5: 23,946,908 (GRCm39) |
I644N |
probably damaging |
Het |
Rbbp9 |
A |
T |
2: 144,385,722 (GRCm39) |
M181K |
probably benign |
Het |
Rell1 |
A |
T |
5: 64,093,418 (GRCm39) |
N112K |
possibly damaging |
Het |
Simc1 |
AATGCAGTCACCAAGAGATGTGATGCAGTCACCAAGAGATGTGATGCAGTCACCAAGAGATGTGATGCAGTCACCAAGAG |
AATGCAGTCACCAAGAGATGTGATGCAGTCACCAAGAGATGTGATGCAGTCACCAAGAG |
13: 54,673,048 (GRCm39) |
|
probably benign |
Het |
Skint5 |
G |
A |
4: 113,400,131 (GRCm39) |
T1184M |
unknown |
Het |
Slc27a2 |
T |
A |
2: 126,420,866 (GRCm39) |
D452E |
probably damaging |
Het |
Slc44a4 |
T |
A |
17: 35,146,888 (GRCm39) |
I489N |
probably damaging |
Het |
Slfn14 |
T |
A |
11: 83,169,821 (GRCm39) |
K608* |
probably null |
Het |
Snx15 |
T |
A |
19: 6,170,537 (GRCm39) |
I301F |
probably damaging |
Het |
Sost |
C |
T |
11: 101,854,929 (GRCm39) |
G127R |
probably damaging |
Het |
Stt3b |
A |
G |
9: 115,106,025 (GRCm39) |
I150T |
probably damaging |
Het |
Susd2 |
T |
C |
10: 75,478,402 (GRCm39) |
D58G |
probably benign |
Het |
Tex46 |
T |
G |
4: 136,340,212 (GRCm39) |
V99G |
probably damaging |
Het |
Tgfbi |
T |
A |
13: 56,779,926 (GRCm39) |
F492I |
possibly damaging |
Het |
Tmem132c |
G |
A |
5: 127,437,281 (GRCm39) |
A257T |
probably benign |
Het |
Trim2 |
A |
T |
3: 84,117,540 (GRCm39) |
I51K |
probably damaging |
Het |
Tsn |
A |
T |
1: 118,228,591 (GRCm39) |
Y210* |
probably null |
Het |
Umodl1 |
G |
A |
17: 31,227,639 (GRCm39) |
R1324H |
probably benign |
Het |
Utp3 |
G |
C |
5: 88,702,376 (GRCm39) |
|
probably benign |
Het |
Vmn1r5 |
A |
T |
6: 56,963,204 (GRCm39) |
N293I |
possibly damaging |
Het |
Vmn2r124 |
A |
T |
17: 18,293,835 (GRCm39) |
I641F |
probably damaging |
Het |
Vmn2r84 |
T |
C |
10: 130,227,119 (GRCm39) |
N240D |
probably benign |
Het |
Wbp1l |
A |
G |
19: 46,642,839 (GRCm39) |
D264G |
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 |
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'- CTTCACAGTTCTTTGGGAGTACCTC -3'
(R):5'- GACCAGCTGCTTTCGATTGC -3'
Sequencing Primer
(F):5'- GGAGTACCTCTTGGTTTACAGTCC -3'
(R):5'- TCGATTGCTACTCACTGAAGG -3'
|
Posted On |
2019-06-26 |