Incidental Mutation 'IGL01578:Psd2'
ID |
91340 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Psd2
|
Ensembl Gene |
ENSMUSG00000024347 |
Gene Name |
pleckstrin and Sec7 domain containing 2 |
Synonyms |
EFA6C, 6330404E20Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL01578
|
Quality Score |
|
Status
|
|
Chromosome |
18 |
Chromosomal Location |
36097883-36147768 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 36112838 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 178
(T178A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000135285
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000115716]
[ENSMUST00000175734]
[ENSMUST00000176472]
[ENSMUST00000176873]
[ENSMUST00000177432]
|
AlphaFold |
Q6P1I6 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000115716
AA Change: T178A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000111381 Gene: ENSMUSG00000024347 AA Change: T178A
Domain | Start | End | E-Value | Type |
low complexity region
|
153 |
169 |
N/A |
INTRINSIC |
low complexity region
|
216 |
234 |
N/A |
INTRINSIC |
low complexity region
|
247 |
264 |
N/A |
INTRINSIC |
Sec7
|
270 |
461 |
4.69e-56 |
SMART |
PH
|
510 |
624 |
4.35e-14 |
SMART |
Blast:Sec7
|
653 |
705 |
4e-24 |
BLAST |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000175734
AA Change: T178A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000135795 Gene: ENSMUSG00000024347 AA Change: T178A
Domain | Start | End | E-Value | Type |
low complexity region
|
153 |
169 |
N/A |
INTRINSIC |
low complexity region
|
216 |
234 |
N/A |
INTRINSIC |
low complexity region
|
247 |
264 |
N/A |
INTRINSIC |
Sec7
|
270 |
462 |
4.1e-55 |
SMART |
PH
|
511 |
625 |
1.9e-16 |
SMART |
Blast:Sec7
|
654 |
706 |
4e-24 |
BLAST |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000176472
AA Change: T178A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000135285 Gene: ENSMUSG00000024347 AA Change: T178A
Domain | Start | End | E-Value | Type |
low complexity region
|
153 |
169 |
N/A |
INTRINSIC |
low complexity region
|
216 |
234 |
N/A |
INTRINSIC |
low complexity region
|
247 |
264 |
N/A |
INTRINSIC |
Sec7
|
270 |
461 |
4.69e-56 |
SMART |
Pfam:PH_9
|
511 |
553 |
4.5e-12 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000176873
AA Change: T178A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000135616 Gene: ENSMUSG00000024347 AA Change: T178A
Domain | Start | End | E-Value | Type |
low complexity region
|
153 |
169 |
N/A |
INTRINSIC |
low complexity region
|
216 |
234 |
N/A |
INTRINSIC |
low complexity region
|
247 |
264 |
N/A |
INTRINSIC |
Sec7
|
270 |
462 |
4.2e-55 |
SMART |
PH
|
511 |
625 |
1.9e-16 |
SMART |
Blast:Sec7
|
654 |
706 |
4e-24 |
BLAST |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000177432
AA Change: T178A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000135431 Gene: ENSMUSG00000024347 AA Change: T178A
Domain | Start | End | E-Value | Type |
low complexity region
|
153 |
169 |
N/A |
INTRINSIC |
low complexity region
|
216 |
234 |
N/A |
INTRINSIC |
low complexity region
|
247 |
264 |
N/A |
INTRINSIC |
Sec7
|
270 |
461 |
4.69e-56 |
SMART |
PH
|
510 |
621 |
5.36e-14 |
SMART |
Blast:Sec7
|
650 |
702 |
4e-24 |
BLAST |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
All alleles(2) : Targeted, other(2) |
Other mutations in this stock |
Total: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arhgap28 |
G |
A |
17: 68,165,195 (GRCm39) |
T516I |
probably benign |
Het |
Birc6 |
T |
C |
17: 74,955,192 (GRCm39) |
C3486R |
probably benign |
Het |
Camk2g |
G |
A |
14: 20,797,922 (GRCm39) |
|
probably benign |
Het |
Cplane1 |
A |
G |
15: 8,300,194 (GRCm39) |
E3167G |
unknown |
Het |
Dmxl1 |
T |
A |
18: 50,095,272 (GRCm39) |
H2950Q |
probably damaging |
Het |
Eml6 |
A |
T |
11: 29,800,870 (GRCm39) |
S379T |
probably benign |
Het |
Epb41l3 |
C |
T |
17: 69,555,704 (GRCm39) |
H13Y |
probably damaging |
Het |
Fam149a |
A |
T |
8: 45,803,479 (GRCm39) |
D337E |
probably damaging |
Het |
Galnt14 |
T |
A |
17: 73,842,361 (GRCm39) |
|
probably benign |
Het |
Gm6489 |
G |
T |
1: 31,326,416 (GRCm39) |
|
noncoding transcript |
Het |
Hspg2 |
G |
A |
4: 137,266,494 (GRCm39) |
R1885H |
probably damaging |
Het |
Jag1 |
T |
A |
2: 136,941,971 (GRCm39) |
|
probably benign |
Het |
Nalcn |
A |
T |
14: 123,809,503 (GRCm39) |
N216K |
probably benign |
Het |
Ndst1 |
T |
C |
18: 60,846,198 (GRCm39) |
Y37C |
probably damaging |
Het |
Nr2c2 |
A |
G |
6: 92,139,019 (GRCm39) |
N486S |
probably benign |
Het |
Obscn |
A |
T |
11: 58,890,506 (GRCm39) |
L7342Q |
unknown |
Het |
Or13l2 |
A |
T |
3: 97,318,036 (GRCm39) |
C154S |
probably damaging |
Het |
Or56b2 |
A |
G |
7: 104,338,052 (GRCm39) |
I277V |
probably benign |
Het |
Or8k20 |
C |
A |
2: 86,106,085 (GRCm39) |
V249F |
probably damaging |
Het |
Pou4f2 |
A |
C |
8: 79,162,284 (GRCm39) |
D106E |
probably damaging |
Het |
Ppic |
G |
A |
18: 53,551,001 (GRCm39) |
P10S |
unknown |
Het |
Ro60 |
A |
T |
1: 143,637,038 (GRCm39) |
N391K |
probably damaging |
Het |
Slc25a34 |
G |
T |
4: 141,349,821 (GRCm39) |
|
probably null |
Het |
Stap2 |
A |
G |
17: 56,304,623 (GRCm39) |
S360P |
probably benign |
Het |
Stx3 |
T |
C |
19: 11,763,969 (GRCm39) |
E129G |
probably damaging |
Het |
Sun3 |
T |
A |
11: 8,979,436 (GRCm39) |
E28D |
probably damaging |
Het |
Tmem126a |
C |
T |
7: 90,100,750 (GRCm39) |
|
probably null |
Het |
Trpc6 |
A |
T |
9: 8,634,058 (GRCm39) |
H379L |
probably damaging |
Het |
Ttf2 |
A |
G |
3: 100,863,511 (GRCm39) |
S608P |
possibly damaging |
Het |
Tubgcp3 |
T |
C |
8: 12,711,297 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Psd2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01486:Psd2
|
APN |
18 |
36,113,388 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02086:Psd2
|
APN |
18 |
36,138,959 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02132:Psd2
|
APN |
18 |
36,137,809 (GRCm39) |
splice site |
probably benign |
|
IGL02480:Psd2
|
APN |
18 |
36,139,136 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02726:Psd2
|
APN |
18 |
36,120,355 (GRCm39) |
critical splice donor site |
probably null |
|
recluse
|
UTSW |
18 |
36,112,764 (GRCm39) |
missense |
probably damaging |
1.00 |
widow
|
UTSW |
18 |
36,113,478 (GRCm39) |
missense |
probably damaging |
0.99 |
3-1:Psd2
|
UTSW |
18 |
36,117,454 (GRCm39) |
missense |
probably damaging |
1.00 |
R0103:Psd2
|
UTSW |
18 |
36,137,770 (GRCm39) |
missense |
probably damaging |
1.00 |
R0103:Psd2
|
UTSW |
18 |
36,137,770 (GRCm39) |
missense |
probably damaging |
1.00 |
R0320:Psd2
|
UTSW |
18 |
36,112,697 (GRCm39) |
missense |
probably damaging |
1.00 |
R0573:Psd2
|
UTSW |
18 |
36,113,546 (GRCm39) |
splice site |
probably benign |
|
R0685:Psd2
|
UTSW |
18 |
36,136,044 (GRCm39) |
missense |
possibly damaging |
0.90 |
R0698:Psd2
|
UTSW |
18 |
36,145,764 (GRCm39) |
missense |
probably benign |
0.22 |
R0730:Psd2
|
UTSW |
18 |
36,111,627 (GRCm39) |
missense |
possibly damaging |
0.85 |
R0971:Psd2
|
UTSW |
18 |
36,112,839 (GRCm39) |
missense |
probably damaging |
1.00 |
R1085:Psd2
|
UTSW |
18 |
36,145,830 (GRCm39) |
missense |
probably benign |
0.10 |
R1535:Psd2
|
UTSW |
18 |
36,138,843 (GRCm39) |
missense |
probably benign |
0.31 |
R2056:Psd2
|
UTSW |
18 |
36,139,744 (GRCm39) |
missense |
possibly damaging |
0.60 |
R4011:Psd2
|
UTSW |
18 |
36,120,300 (GRCm39) |
missense |
probably benign |
0.01 |
R4246:Psd2
|
UTSW |
18 |
36,139,172 (GRCm39) |
missense |
probably damaging |
1.00 |
R4335:Psd2
|
UTSW |
18 |
36,140,583 (GRCm39) |
missense |
probably damaging |
0.96 |
R4584:Psd2
|
UTSW |
18 |
36,145,881 (GRCm39) |
missense |
probably benign |
|
R4942:Psd2
|
UTSW |
18 |
36,111,717 (GRCm39) |
missense |
probably damaging |
1.00 |
R5120:Psd2
|
UTSW |
18 |
36,112,863 (GRCm39) |
missense |
possibly damaging |
0.92 |
R5373:Psd2
|
UTSW |
18 |
36,140,556 (GRCm39) |
missense |
probably damaging |
1.00 |
R5374:Psd2
|
UTSW |
18 |
36,140,556 (GRCm39) |
missense |
probably damaging |
1.00 |
R5839:Psd2
|
UTSW |
18 |
36,140,577 (GRCm39) |
missense |
probably damaging |
0.97 |
R6200:Psd2
|
UTSW |
18 |
36,139,776 (GRCm39) |
splice site |
probably null |
|
R6925:Psd2
|
UTSW |
18 |
36,112,764 (GRCm39) |
missense |
probably damaging |
1.00 |
R6967:Psd2
|
UTSW |
18 |
36,113,385 (GRCm39) |
missense |
probably damaging |
0.97 |
R7074:Psd2
|
UTSW |
18 |
36,143,737 (GRCm39) |
missense |
probably benign |
0.03 |
R7142:Psd2
|
UTSW |
18 |
36,113,097 (GRCm39) |
missense |
possibly damaging |
0.85 |
R7239:Psd2
|
UTSW |
18 |
36,113,472 (GRCm39) |
missense |
probably damaging |
1.00 |
R7348:Psd2
|
UTSW |
18 |
36,113,389 (GRCm39) |
missense |
possibly damaging |
0.85 |
R7581:Psd2
|
UTSW |
18 |
36,113,050 (GRCm39) |
missense |
probably benign |
0.01 |
R7793:Psd2
|
UTSW |
18 |
36,136,032 (GRCm39) |
missense |
probably benign |
0.37 |
R8221:Psd2
|
UTSW |
18 |
36,113,478 (GRCm39) |
missense |
probably damaging |
0.99 |
R8310:Psd2
|
UTSW |
18 |
36,112,766 (GRCm39) |
missense |
probably damaging |
1.00 |
R8939:Psd2
|
UTSW |
18 |
36,121,292 (GRCm39) |
missense |
probably damaging |
0.98 |
R9463:Psd2
|
UTSW |
18 |
36,143,798 (GRCm39) |
missense |
probably damaging |
0.98 |
X0065:Psd2
|
UTSW |
18 |
36,135,995 (GRCm39) |
missense |
possibly damaging |
0.92 |
Z1177:Psd2
|
UTSW |
18 |
36,111,333 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
Posted On |
2013-12-09 |