Incidental Mutation 'IGL01577:Psd4'
| ID |
91310 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Psd4
|
| Ensembl Gene |
ENSMUSG00000026979 |
| Gene Name |
pleckstrin and Sec7 domain containing 4 |
| Synonyms |
SEC7 homolog, EFA6B |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01577
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
24257571-24299882 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 24293234 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 700
(P700S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132395
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056641]
[ENSMUST00000102942]
[ENSMUST00000140303]
[ENSMUST00000166388]
|
| AlphaFold |
Q8BLR5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000056641
AA Change: P700S
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000062415
Gene: ENSMUSG00000026979
AA Change: P700S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
156 |
176 |
N/A |
INTRINSIC |
|
low complexity region
|
350 |
361 |
N/A |
INTRINSIC |
|
low complexity region
|
420 |
438 |
N/A |
INTRINSIC |
|
low complexity region
|
458 |
474 |
N/A |
INTRINSIC |
|
Sec7
|
497 |
688 |
9.39e-47 |
SMART |
|
PH
|
727 |
843 |
1.1e-10 |
SMART |
|
low complexity region
|
883 |
893 |
N/A |
INTRINSIC |
|
low complexity region
|
897 |
920 |
N/A |
INTRINSIC |
|
low complexity region
|
961 |
973 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000102942
AA Change: P700S
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000100006
Gene: ENSMUSG00000026979
AA Change: P700S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
156 |
176 |
N/A |
INTRINSIC |
|
low complexity region
|
350 |
361 |
N/A |
INTRINSIC |
|
low complexity region
|
420 |
438 |
N/A |
INTRINSIC |
|
low complexity region
|
458 |
474 |
N/A |
INTRINSIC |
|
Sec7
|
497 |
688 |
9.39e-47 |
SMART |
|
PH
|
727 |
843 |
1.1e-10 |
SMART |
|
low complexity region
|
883 |
893 |
N/A |
INTRINSIC |
|
low complexity region
|
897 |
920 |
N/A |
INTRINSIC |
|
low complexity region
|
961 |
973 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132924
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140303
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000166388
AA Change: P700S
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000132395
Gene: ENSMUSG00000026979
AA Change: P700S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
156 |
176 |
N/A |
INTRINSIC |
|
low complexity region
|
350 |
361 |
N/A |
INTRINSIC |
|
low complexity region
|
420 |
438 |
N/A |
INTRINSIC |
|
low complexity region
|
458 |
474 |
N/A |
INTRINSIC |
|
Sec7
|
497 |
688 |
9.39e-47 |
SMART |
|
PH
|
727 |
843 |
1.1e-10 |
SMART |
|
low complexity region
|
883 |
893 |
N/A |
INTRINSIC |
|
low complexity region
|
897 |
920 |
N/A |
INTRINSIC |
|
low complexity region
|
961 |
973 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actr8 |
A |
G |
14: 29,709,232 (GRCm39) |
T279A |
probably benign |
Het |
| Adamts9 |
T |
G |
6: 92,835,128 (GRCm39) |
|
probably benign |
Het |
| Apba3 |
G |
A |
10: 81,108,053 (GRCm39) |
G403D |
probably damaging |
Het |
| Atp13a4 |
C |
T |
16: 29,260,102 (GRCm39) |
V235I |
possibly damaging |
Het |
| Brca2 |
T |
A |
5: 150,465,085 (GRCm39) |
C1616* |
probably null |
Het |
| Ccdc7a |
T |
A |
8: 129,715,244 (GRCm39) |
E280V |
probably damaging |
Het |
| Cdc42bpb |
A |
G |
12: 111,268,477 (GRCm39) |
I1241T |
possibly damaging |
Het |
| Cplx4 |
G |
T |
18: 66,103,015 (GRCm39) |
A35E |
probably damaging |
Het |
| Cyp2j8 |
T |
G |
4: 96,367,308 (GRCm39) |
D270A |
probably damaging |
Het |
| Cyp7a1 |
T |
C |
4: 6,273,618 (GRCm39) |
D96G |
probably damaging |
Het |
| Ddx11 |
G |
A |
17: 66,446,398 (GRCm39) |
R429H |
possibly damaging |
Het |
| Depdc5 |
C |
A |
5: 33,113,241 (GRCm39) |
T419N |
possibly damaging |
Het |
| Diaph3 |
A |
C |
14: 87,143,467 (GRCm39) |
I737R |
probably damaging |
Het |
| Elf2 |
C |
T |
3: 51,163,773 (GRCm39) |
|
probably benign |
Het |
| Epha6 |
T |
A |
16: 59,777,289 (GRCm39) |
I673L |
possibly damaging |
Het |
| Ephx1 |
A |
G |
1: 180,829,545 (GRCm39) |
M1T |
probably null |
Het |
| Fndc3a |
A |
T |
14: 72,827,298 (GRCm39) |
M84K |
probably damaging |
Het |
| Gad2 |
T |
C |
2: 22,571,292 (GRCm39) |
|
probably benign |
Het |
| Gba2 |
G |
A |
4: 43,573,753 (GRCm39) |
Q180* |
probably null |
Het |
| Gga2 |
A |
G |
7: 121,589,006 (GRCm39) |
Y574H |
probably damaging |
Het |
| Gm7168 |
A |
T |
17: 14,169,649 (GRCm39) |
R339W |
probably damaging |
Het |
| Hdac10 |
T |
C |
15: 89,010,416 (GRCm39) |
E302G |
possibly damaging |
Het |
| Ighv1-72 |
A |
G |
12: 115,721,893 (GRCm39) |
V21A |
possibly damaging |
Het |
| Kif15 |
A |
G |
9: 122,825,399 (GRCm39) |
E774G |
probably benign |
Het |
| Lig3 |
A |
G |
11: 82,674,303 (GRCm39) |
N43S |
probably benign |
Het |
| Nmnat1 |
T |
A |
4: 149,554,135 (GRCm39) |
D135V |
possibly damaging |
Het |
| Or1s2 |
A |
G |
19: 13,758,162 (GRCm39) |
Y62C |
probably damaging |
Het |
| Or52n2 |
A |
G |
7: 104,542,730 (GRCm39) |
F35S |
probably benign |
Het |
| Pak6 |
A |
C |
2: 118,524,129 (GRCm39) |
K428T |
probably benign |
Het |
| Pou2f3 |
G |
A |
9: 43,058,178 (GRCm39) |
Q56* |
probably null |
Het |
| Prep |
T |
C |
10: 44,948,144 (GRCm39) |
|
probably benign |
Het |
| Rad18 |
A |
T |
6: 112,642,302 (GRCm39) |
|
probably benign |
Het |
| Rbbp5 |
A |
G |
1: 132,420,393 (GRCm39) |
K209E |
possibly damaging |
Het |
| Smurf1 |
G |
A |
5: 144,829,998 (GRCm39) |
T335I |
probably damaging |
Het |
| Tbcd |
G |
A |
11: 121,387,838 (GRCm39) |
R72Q |
probably damaging |
Het |
| Tsga10 |
T |
C |
1: 37,874,538 (GRCm39) |
T116A |
possibly damaging |
Het |
| Unc80 |
A |
G |
1: 66,569,127 (GRCm39) |
|
probably null |
Het |
| Vmn1r87 |
C |
A |
7: 12,865,775 (GRCm39) |
V171F |
probably benign |
Het |
| Ythdc2 |
A |
T |
18: 44,991,349 (GRCm39) |
M786L |
probably benign |
Het |
| Zmym6 |
C |
A |
4: 126,999,223 (GRCm39) |
T469K |
probably damaging |
Het |
|
| Other mutations in Psd4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00850:Psd4
|
APN |
2 |
24,284,298 (GRCm39) |
missense |
probably benign |
0.25 |
|
IGL01302:Psd4
|
APN |
2 |
24,286,799 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01446:Psd4
|
APN |
2 |
24,295,407 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01823:Psd4
|
APN |
2 |
24,284,444 (GRCm39) |
missense |
probably benign |
0.27 |
|
IGL02103:Psd4
|
APN |
2 |
24,290,540 (GRCm39) |
nonsense |
probably null |
|
|
IGL02212:Psd4
|
APN |
2 |
24,295,326 (GRCm39) |
nonsense |
probably null |
|
|
IGL02240:Psd4
|
APN |
2 |
24,286,389 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02261:Psd4
|
APN |
2 |
24,291,756 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02345:Psd4
|
APN |
2 |
24,291,835 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03272:Psd4
|
APN |
2 |
24,295,692 (GRCm39) |
splice site |
probably benign |
|
|
bitcoin
|
UTSW |
2 |
24,291,569 (GRCm39) |
missense |
probably damaging |
1.00 |
|
crypto
|
UTSW |
2 |
24,287,259 (GRCm39) |
missense |
probably benign |
|
|
Ethereum
|
UTSW |
2 |
24,296,996 (GRCm39) |
missense |
probably damaging |
1.00 |
|
underworld
|
UTSW |
2 |
24,295,363 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4469001:Psd4
|
UTSW |
2 |
24,284,306 (GRCm39) |
missense |
probably benign |
0.08 |
|
R0131:Psd4
|
UTSW |
2 |
24,295,363 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0131:Psd4
|
UTSW |
2 |
24,295,363 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0132:Psd4
|
UTSW |
2 |
24,295,363 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0278:Psd4
|
UTSW |
2 |
24,284,450 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1303:Psd4
|
UTSW |
2 |
24,285,030 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1551:Psd4
|
UTSW |
2 |
24,293,292 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1715:Psd4
|
UTSW |
2 |
24,295,344 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1854:Psd4
|
UTSW |
2 |
24,287,468 (GRCm39) |
missense |
probably benign |
0.26 |
|
R1942:Psd4
|
UTSW |
2 |
24,295,805 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2392:Psd4
|
UTSW |
2 |
24,284,679 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2420:Psd4
|
UTSW |
2 |
24,291,253 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4509:Psd4
|
UTSW |
2 |
24,286,347 (GRCm39) |
missense |
probably benign |
|
|
R4512:Psd4
|
UTSW |
2 |
24,292,901 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4558:Psd4
|
UTSW |
2 |
24,294,806 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4995:Psd4
|
UTSW |
2 |
24,287,259 (GRCm39) |
missense |
probably benign |
|
|
R5120:Psd4
|
UTSW |
2 |
24,295,450 (GRCm39) |
missense |
probably benign |
|
|
R5314:Psd4
|
UTSW |
2 |
24,290,528 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R5563:Psd4
|
UTSW |
2 |
24,284,897 (GRCm39) |
missense |
probably benign |
|
|
R5638:Psd4
|
UTSW |
2 |
24,287,427 (GRCm39) |
missense |
probably benign |
0.14 |
|
R6191:Psd4
|
UTSW |
2 |
24,284,499 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6224:Psd4
|
UTSW |
2 |
24,291,569 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7024:Psd4
|
UTSW |
2 |
24,284,555 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R7046:Psd4
|
UTSW |
2 |
24,284,985 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7209:Psd4
|
UTSW |
2 |
24,287,357 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7483:Psd4
|
UTSW |
2 |
24,294,768 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R7498:Psd4
|
UTSW |
2 |
24,296,996 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7571:Psd4
|
UTSW |
2 |
24,297,023 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7741:Psd4
|
UTSW |
2 |
24,291,108 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7978:Psd4
|
UTSW |
2 |
24,294,867 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8133:Psd4
|
UTSW |
2 |
24,286,701 (GRCm39) |
missense |
probably benign |
|
|
R8254:Psd4
|
UTSW |
2 |
24,293,223 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8786:Psd4
|
UTSW |
2 |
24,295,444 (GRCm39) |
missense |
probably benign |
0.08 |
|
R8797:Psd4
|
UTSW |
2 |
24,287,440 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9015:Psd4
|
UTSW |
2 |
24,287,492 (GRCm39) |
missense |
|
|
|
R9413:Psd4
|
UTSW |
2 |
24,287,472 (GRCm39) |
missense |
probably benign |
0.39 |
|
X0009:Psd4
|
UTSW |
2 |
24,291,537 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0064:Psd4
|
UTSW |
2 |
24,294,750 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1177:Psd4
|
UTSW |
2 |
24,284,943 (GRCm39) |
frame shift |
probably null |
|
|
Z1177:Psd4
|
UTSW |
2 |
24,284,924 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
| Posted On |
2013-12-09 |
Incidental Mutation