Incidental Mutation 'R8797:Psd4'
| ID |
671296 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Psd4
|
| Ensembl Gene |
ENSMUSG00000026979 |
| Gene Name |
pleckstrin and Sec7 domain containing 4 |
| Synonyms |
SEC7 homolog, EFA6B |
| MMRRC Submission |
068638-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8797 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
24257571-24299882 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 24287440 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Serine
at position 457
(R457S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000062415
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056641]
[ENSMUST00000102942]
[ENSMUST00000127242]
[ENSMUST00000131930]
[ENSMUST00000140303]
[ENSMUST00000140547]
[ENSMUST00000142522]
[ENSMUST00000166388]
|
| AlphaFold |
Q8BLR5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000056641
AA Change: R457S
PolyPhen 2
Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000062415
Gene: ENSMUSG00000026979
AA Change: R457S
| 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: ENSMUST00000102942
AA Change: R457S
PolyPhen 2
Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000100006
Gene: ENSMUSG00000026979
AA Change: R457S
| 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 |
probably benign
Transcript: ENSMUST00000140303
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140547
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000142522
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166388
AA Change: R457S
PolyPhen 2
Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000132395
Gene: ENSMUSG00000026979
AA Change: R457S
| 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 |
|
| Meta Mutation Damage Score |
0.0846 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.9%
- 20x: 99.6%
|
| Validation Efficiency |
100% (50/50) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsm5 |
C |
A |
7: 119,137,374 (GRCm39) |
P397T |
probably damaging |
Het |
| Adamts14 |
C |
T |
10: 61,106,781 (GRCm39) |
R113K |
probably benign |
Het |
| Baiap2 |
G |
A |
11: 119,897,201 (GRCm39) |
V519I |
probably benign |
Het |
| Ccna1 |
C |
T |
3: 54,953,069 (GRCm39) |
A233T |
probably benign |
Het |
| Cdon |
T |
C |
9: 35,389,931 (GRCm39) |
Y862H |
probably damaging |
Het |
| Crygc |
C |
T |
1: 65,111,030 (GRCm39) |
A86T |
probably benign |
Het |
| Cyb5d2 |
T |
G |
11: 72,669,662 (GRCm39) |
N232T |
probably benign |
Het |
| Dnah14 |
C |
A |
1: 181,465,412 (GRCm39) |
H1193N |
probably benign |
Het |
| Dnah17 |
T |
G |
11: 117,992,201 (GRCm39) |
E1170A |
probably benign |
Het |
| Dnah7b |
A |
G |
1: 46,162,806 (GRCm39) |
Y384C |
probably damaging |
Het |
| Fat4 |
G |
A |
3: 39,053,278 (GRCm39) |
V4091I |
probably benign |
Het |
| Fbxl12 |
C |
A |
9: 20,550,160 (GRCm39) |
R165L |
possibly damaging |
Het |
| G6pc2 |
A |
G |
2: 69,050,441 (GRCm39) |
Y22C |
probably benign |
Het |
| Gpihbp1 |
A |
T |
15: 75,469,828 (GRCm39) |
Q181L |
possibly damaging |
Het |
| H2bc4 |
C |
T |
13: 23,868,552 (GRCm39) |
S113L |
probably damaging |
Het |
| Hhatl |
A |
T |
9: 121,619,965 (GRCm39) |
|
probably benign |
Het |
| Iars1 |
C |
A |
13: 49,841,738 (GRCm39) |
S75R |
probably benign |
Het |
| Igfn1 |
T |
A |
1: 135,902,573 (GRCm39) |
I375F |
possibly damaging |
Het |
| Itih4 |
A |
G |
14: 30,618,529 (GRCm39) |
I647V |
probably benign |
Het |
| Jmjd1c |
T |
A |
10: 67,060,616 (GRCm39) |
C703S |
probably benign |
Het |
| L3mbtl2 |
C |
T |
15: 81,569,615 (GRCm39) |
T619I |
possibly damaging |
Het |
| Lct |
T |
C |
1: 128,231,684 (GRCm39) |
T722A |
possibly damaging |
Het |
| Meioc |
C |
T |
11: 102,567,686 (GRCm39) |
Q827* |
probably null |
Het |
| Meis2 |
T |
C |
2: 115,694,986 (GRCm39) |
S386G |
probably benign |
Het |
| Mroh8 |
T |
A |
2: 157,071,876 (GRCm39) |
D543V |
probably damaging |
Het |
| Ms4a13 |
C |
T |
19: 11,161,200 (GRCm39) |
R113H |
probably benign |
Het |
| Myrfl |
T |
C |
10: 116,613,325 (GRCm39) |
Y826C |
probably benign |
Het |
| Nf1 |
T |
C |
11: 79,366,711 (GRCm39) |
|
probably benign |
Het |
| Nrg3 |
A |
C |
14: 38,093,243 (GRCm39) |
L542R |
probably benign |
Het |
| Or13j1 |
T |
C |
4: 43,706,455 (GRCm39) |
T38A |
probably damaging |
Het |
| Or2y8 |
T |
A |
11: 52,036,340 (GRCm39) |
T6S |
probably benign |
Het |
| Or6c65 |
T |
A |
10: 129,603,674 (GRCm39) |
I103K |
probably damaging |
Het |
| Pcdh15 |
A |
G |
10: 74,419,978 (GRCm39) |
N1212S |
probably damaging |
Het |
| Pcsk5 |
G |
A |
19: 17,443,472 (GRCm39) |
T1229I |
probably benign |
Het |
| Pkd1l3 |
A |
T |
8: 110,374,946 (GRCm39) |
H1483L |
probably benign |
Het |
| Polr3b |
T |
A |
10: 84,532,879 (GRCm39) |
L840* |
probably null |
Het |
| Relch |
T |
C |
1: 105,678,121 (GRCm39) |
S1149P |
possibly damaging |
Het |
| Rgs12 |
A |
G |
5: 35,186,915 (GRCm39) |
S194G |
|
Het |
| Rps3 |
A |
G |
7: 99,132,797 (GRCm39) |
|
probably null |
Het |
| Saxo4 |
T |
C |
19: 10,455,602 (GRCm39) |
I216V |
probably benign |
Het |
| Sgcb |
G |
T |
5: 73,793,036 (GRCm39) |
N255K |
probably benign |
Het |
| Sla2 |
A |
G |
2: 156,717,799 (GRCm39) |
Y158H |
probably damaging |
Het |
| Sla2 |
G |
A |
2: 156,717,823 (GRCm39) |
Q150* |
probably null |
Het |
| Slc12a2 |
T |
A |
18: 58,012,455 (GRCm39) |
Y193N |
possibly damaging |
Het |
| Supt16 |
G |
T |
14: 52,409,960 (GRCm39) |
T749K |
probably damaging |
Het |
| Uqcrc2 |
A |
G |
7: 120,239,500 (GRCm39) |
E104G |
probably damaging |
Het |
| Vasp |
T |
C |
7: 18,994,563 (GRCm39) |
N251S |
unknown |
Het |
| Vmn1r72 |
A |
G |
7: 11,403,965 (GRCm39) |
M161T |
probably benign |
Het |
| Zc3h18 |
T |
C |
8: 123,134,989 (GRCm39) |
|
probably benign |
Het |
| Zfp981 |
T |
A |
4: 146,619,906 (GRCm39) |
L20* |
probably null |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTGCTGTTCCTCAGGTGAG -3'
(R):5'- TATAAGCCAAGGAGCCAGTTG -3'
Sequencing Primer
(F):5'- GTTTCCAGGAGCCCGTGTTC -3'
(R):5'- GAGCCAGTTGTATTGAGACTCACC -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation