Incidental Mutation 'IGL01302:Psd4'
| ID |
73305 |
| 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 # |
IGL01302
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
24257571-24299882 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to A
at 24286799 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132395
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056641]
[ENSMUST00000102942]
[ENSMUST00000127242]
[ENSMUST00000131930]
[ENSMUST00000140303]
[ENSMUST00000140547]
[ENSMUST00000166388]
[ENSMUST00000142522]
|
| AlphaFold |
Q8BLR5 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000056641
|
| SMART Domains |
Protein: ENSMUSP00000062415
Gene: ENSMUSG00000026979
| 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 null
Transcript: ENSMUST00000102942
|
| SMART Domains |
Protein: ENSMUSP00000100006
Gene: ENSMUSG00000026979
| 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 benign
Transcript: ENSMUST00000127242
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000131930
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133730
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140303
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140547
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000166388
|
| SMART Domains |
Protein: ENSMUSP00000132395
Gene: ENSMUSG00000026979
| 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 benign
Transcript: ENSMUST00000142522
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
A |
11: 9,349,470 (GRCm39) |
|
probably benign |
Het |
| Abcb5 |
T |
A |
12: 118,881,935 (GRCm39) |
D598V |
probably damaging |
Het |
| Adss1 |
T |
C |
12: 112,601,170 (GRCm39) |
|
probably benign |
Het |
| Akap9 |
T |
A |
5: 4,020,711 (GRCm39) |
S1141T |
probably benign |
Het |
| Avil |
T |
C |
10: 126,852,903 (GRCm39) |
|
probably null |
Het |
| Avl9 |
C |
A |
6: 56,702,075 (GRCm39) |
H77N |
probably damaging |
Het |
| Cacna1e |
A |
G |
1: 154,319,653 (GRCm39) |
V1349A |
probably damaging |
Het |
| Cdc23 |
A |
C |
18: 34,767,697 (GRCm39) |
S483A |
probably benign |
Het |
| Cep192 |
C |
T |
18: 67,991,974 (GRCm39) |
P1951S |
probably benign |
Het |
| Cp |
A |
G |
3: 20,020,531 (GRCm39) |
T175A |
probably damaging |
Het |
| Dubr |
A |
C |
16: 50,552,998 (GRCm39) |
|
noncoding transcript |
Het |
| Eif4g2 |
G |
T |
7: 110,673,920 (GRCm39) |
Q695K |
possibly damaging |
Het |
| Endod1 |
A |
T |
9: 14,268,535 (GRCm39) |
S317T |
possibly damaging |
Het |
| Ep400 |
T |
C |
5: 110,889,914 (GRCm39) |
T450A |
probably benign |
Het |
| Erc1 |
A |
C |
6: 119,699,264 (GRCm39) |
V790G |
probably damaging |
Het |
| Fam222a |
T |
A |
5: 114,732,514 (GRCm39) |
L23Q |
possibly damaging |
Het |
| Fancf |
A |
G |
7: 51,511,035 (GRCm39) |
V323A |
probably benign |
Het |
| Grik2 |
T |
A |
10: 49,120,426 (GRCm39) |
Q621L |
probably damaging |
Het |
| Gsk3b |
G |
T |
16: 38,040,380 (GRCm39) |
R319L |
probably benign |
Het |
| Ikzf1 |
A |
G |
11: 11,718,923 (GRCm39) |
Y297C |
probably damaging |
Het |
| Katnal2 |
T |
C |
18: 77,134,863 (GRCm39) |
|
probably benign |
Het |
| Lrba |
G |
T |
3: 86,202,707 (GRCm39) |
C289F |
probably damaging |
Het |
| Mos |
T |
C |
4: 3,871,815 (GRCm39) |
|
probably benign |
Het |
| Mycn |
T |
C |
12: 12,987,587 (GRCm39) |
D270G |
possibly damaging |
Het |
| Or52e15 |
A |
T |
7: 104,645,928 (GRCm39) |
M61K |
probably damaging |
Het |
| Or6c207 |
T |
A |
10: 129,104,392 (GRCm39) |
I267F |
probably benign |
Het |
| Pclo |
A |
G |
5: 14,726,013 (GRCm39) |
|
probably benign |
Het |
| Pgm1 |
A |
G |
4: 99,786,803 (GRCm39) |
D14G |
probably damaging |
Het |
| Pramel7 |
T |
A |
2: 87,321,717 (GRCm39) |
D106V |
possibly damaging |
Het |
| Prdm9 |
G |
T |
17: 15,773,608 (GRCm39) |
H263N |
probably benign |
Het |
| Ptprc |
G |
A |
1: 138,027,369 (GRCm39) |
T493I |
possibly damaging |
Het |
| Rbbp8 |
T |
A |
18: 11,855,036 (GRCm39) |
S420R |
probably benign |
Het |
| Sap30bp |
A |
G |
11: 115,853,373 (GRCm39) |
T219A |
probably damaging |
Het |
| Shld2 |
C |
T |
14: 33,981,684 (GRCm39) |
V485I |
probably benign |
Het |
| Slc2a7 |
T |
A |
4: 150,242,021 (GRCm39) |
L200Q |
probably damaging |
Het |
| Slc38a6 |
T |
A |
12: 73,335,299 (GRCm39) |
|
probably null |
Het |
| Tatdn2 |
T |
A |
6: 113,680,985 (GRCm39) |
|
probably benign |
Het |
| Thrb |
A |
G |
14: 18,011,056 (GRCm38) |
|
probably benign |
Het |
| Timp4 |
T |
C |
6: 115,223,269 (GRCm39) |
Y218C |
possibly damaging |
Het |
| Tlr5 |
A |
G |
1: 182,802,313 (GRCm39) |
D525G |
probably benign |
Het |
| Usp32 |
G |
T |
11: 84,879,308 (GRCm39) |
T1467N |
probably benign |
Het |
| Vmn2r78 |
A |
G |
7: 86,564,569 (GRCm39) |
I5V |
unknown |
Het |
| Zbtb43 |
T |
C |
2: 33,344,103 (GRCm39) |
H374R |
probably benign |
Het |
| Zfhx4 |
C |
A |
3: 5,308,628 (GRCm39) |
T618K |
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 |
|
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 |
|
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 |
2013-10-07 |
Incidental Mutation