Incidental Mutation 'IGL02261:Psd4'
| ID |
286747 |
| 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 # |
IGL02261
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
24257571-24299882 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 24291756 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 652
(S652G)
|
| 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: S652G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000062415
Gene: ENSMUSG00000026979
AA Change: S652G
| 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: S652G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000100006
Gene: ENSMUSG00000026979
AA Change: S652G
| 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 |
noncoding transcript
Transcript: ENSMUST00000133730
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140303
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000166388
AA Change: S652G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000132395
Gene: ENSMUSG00000026979
AA Change: S652G
| 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 |
|---|
| Ambn |
G |
A |
5: 88,604,807 (GRCm39) |
V27M |
probably damaging |
Het |
| Ank1 |
A |
G |
8: 23,578,015 (GRCm39) |
N222D |
probably damaging |
Het |
| Bcas3 |
A |
T |
11: 85,422,756 (GRCm39) |
T542S |
probably damaging |
Het |
| Btbd1 |
A |
T |
7: 81,455,507 (GRCm39) |
I288N |
probably damaging |
Het |
| Ctps1 |
C |
T |
4: 120,399,776 (GRCm39) |
V500I |
possibly damaging |
Het |
| Cul5 |
A |
C |
9: 53,546,337 (GRCm39) |
V345G |
probably damaging |
Het |
| Dchs1 |
A |
G |
7: 105,421,776 (GRCm39) |
Y215H |
probably damaging |
Het |
| Dmxl1 |
T |
A |
18: 49,973,566 (GRCm39) |
M67K |
possibly damaging |
Het |
| Egln2 |
C |
T |
7: 26,859,291 (GRCm39) |
E353K |
possibly damaging |
Het |
| Fbxw5 |
G |
T |
2: 25,393,746 (GRCm39) |
A325S |
probably benign |
Het |
| Fhdc1 |
G |
A |
3: 84,352,042 (GRCm39) |
A1061V |
possibly damaging |
Het |
| Gaa |
A |
G |
11: 119,172,091 (GRCm39) |
*207W |
probably null |
Het |
| Herc2 |
A |
G |
7: 55,856,492 (GRCm39) |
T3947A |
probably damaging |
Het |
| Ifit2 |
T |
A |
19: 34,551,624 (GRCm39) |
I388N |
probably damaging |
Het |
| Ikzf4 |
T |
C |
10: 128,472,591 (GRCm39) |
T209A |
possibly damaging |
Het |
| Il17re |
A |
T |
6: 113,445,472 (GRCm39) |
|
probably benign |
Het |
| Insrr |
T |
A |
3: 87,708,029 (GRCm39) |
L157Q |
probably damaging |
Het |
| Kcnq2 |
T |
G |
2: 180,723,483 (GRCm39) |
Y631S |
probably damaging |
Het |
| Lrrfip1 |
A |
G |
1: 91,039,890 (GRCm39) |
I198V |
probably benign |
Het |
| Mir7684 |
A |
T |
15: 82,273,345 (GRCm39) |
|
probably benign |
Het |
| Mphosph9 |
C |
T |
5: 124,398,150 (GRCm39) |
E1049K |
probably damaging |
Het |
| Mroh1 |
G |
A |
15: 76,313,360 (GRCm39) |
R611Q |
probably benign |
Het |
| Mynn |
A |
T |
3: 30,661,280 (GRCm39) |
I121F |
possibly damaging |
Het |
| Ndrg2 |
G |
A |
14: 52,148,566 (GRCm39) |
R32C |
probably damaging |
Het |
| Or2ab1 |
T |
C |
11: 58,488,630 (GRCm39) |
I138T |
probably benign |
Het |
| Or4p7 |
A |
G |
2: 88,221,725 (GRCm39) |
I45V |
probably benign |
Het |
| Ppp1r9b |
A |
G |
11: 94,892,936 (GRCm39) |
E260G |
probably damaging |
Het |
| Psg25 |
C |
T |
7: 18,255,268 (GRCm39) |
R416H |
probably benign |
Het |
| Pygm |
T |
A |
19: 6,438,301 (GRCm39) |
N171K |
probably damaging |
Het |
| Rbm46 |
A |
T |
3: 82,771,723 (GRCm39) |
D297E |
possibly damaging |
Het |
| Selenov |
T |
A |
7: 27,990,004 (GRCm39) |
T167S |
probably benign |
Het |
| Serpina10 |
T |
C |
12: 103,583,208 (GRCm39) |
Y358C |
probably damaging |
Het |
| Slc27a3 |
T |
C |
3: 90,295,002 (GRCm39) |
R352G |
probably benign |
Het |
| Snx33 |
T |
C |
9: 56,833,862 (GRCm39) |
D69G |
probably benign |
Het |
| St8sia2 |
G |
T |
7: 73,616,594 (GRCm39) |
P127H |
probably damaging |
Het |
| Thbd |
T |
C |
2: 148,248,401 (GRCm39) |
K489R |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,767,049 (GRCm39) |
C3039S |
probably damaging |
Het |
| Vmn1r167 |
T |
C |
7: 23,204,261 (GRCm39) |
M252V |
probably benign |
Het |
| Xdh |
A |
G |
17: 74,220,960 (GRCm39) |
S590P |
possibly damaging |
Het |
| Zfp827 |
G |
A |
8: 79,906,708 (GRCm39) |
V907I |
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 |
|
IGL01577:Psd4
|
APN |
2 |
24,293,234 (GRCm39) |
missense |
probably damaging |
0.96 |
|
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 |
|
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 |
2015-04-16 |
Incidental Mutation