Incidental Mutation 'R3967:Psd'
ID |
312420 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Psd
|
Ensembl Gene |
ENSMUSG00000037126 |
Gene Name |
pleckstrin and Sec7 domain containing |
Synonyms |
Efa6, Psdl, Efa6a, 1110007H17Rik |
MMRRC Submission |
040838-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R3967 (G1)
|
Quality Score |
202 |
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
46300526-46315595 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 46312845 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Histidine
at position 175
(R175H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000152942
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026256]
[ENSMUST00000041391]
[ENSMUST00000096029]
[ENSMUST00000177667]
[ENSMUST00000223903]
[ENSMUST00000223917]
[ENSMUST00000225323]
[ENSMUST00000224447]
[ENSMUST00000225781]
|
AlphaFold |
Q5DTT2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000026256
|
SMART Domains |
Protein: ENSMUSP00000026256 Gene: ENSMUSG00000025226
Domain | Start | End | E-Value | Type |
Pfam:F-box
|
18 |
63 |
1.9e-6 |
PFAM |
low complexity region
|
76 |
84 |
N/A |
INTRINSIC |
LRR
|
113 |
138 |
1.01e1 |
SMART |
LRR
|
139 |
164 |
1.89e-1 |
SMART |
LRR
|
165 |
190 |
2.27e-4 |
SMART |
LRR
|
192 |
217 |
3.47e0 |
SMART |
LRR
|
218 |
243 |
2.57e-3 |
SMART |
LRR
|
244 |
269 |
2.05e1 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000041391
AA Change: R175H
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000039728 Gene: ENSMUSG00000037126 AA Change: R175H
Domain | Start | End | E-Value | Type |
low complexity region
|
48 |
63 |
N/A |
INTRINSIC |
low complexity region
|
79 |
99 |
N/A |
INTRINSIC |
low complexity region
|
329 |
368 |
N/A |
INTRINSIC |
low complexity region
|
419 |
431 |
N/A |
INTRINSIC |
low complexity region
|
445 |
466 |
N/A |
INTRINSIC |
Sec7
|
519 |
708 |
5.08e-75 |
SMART |
low complexity region
|
714 |
724 |
N/A |
INTRINSIC |
low complexity region
|
736 |
744 |
N/A |
INTRINSIC |
PH
|
757 |
871 |
1.87e-13 |
SMART |
Blast:Sec7
|
900 |
952 |
1e-6 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000096029
AA Change: R175H
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000093729 Gene: ENSMUSG00000037126 AA Change: R175H
Domain | Start | End | E-Value | Type |
low complexity region
|
48 |
63 |
N/A |
INTRINSIC |
low complexity region
|
79 |
99 |
N/A |
INTRINSIC |
low complexity region
|
329 |
368 |
N/A |
INTRINSIC |
low complexity region
|
419 |
431 |
N/A |
INTRINSIC |
low complexity region
|
445 |
466 |
N/A |
INTRINSIC |
Sec7
|
520 |
709 |
5.08e-75 |
SMART |
low complexity region
|
715 |
725 |
N/A |
INTRINSIC |
low complexity region
|
737 |
745 |
N/A |
INTRINSIC |
PH
|
758 |
872 |
1.87e-13 |
SMART |
Blast:Sec7
|
901 |
953 |
1e-6 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000177667
|
SMART Domains |
Protein: ENSMUSP00000137489 Gene: ENSMUSG00000025226
Domain | Start | End | E-Value | Type |
Pfam:F-box
|
18 |
63 |
2.1e-6 |
PFAM |
low complexity region
|
76 |
84 |
N/A |
INTRINSIC |
LRR
|
113 |
138 |
1.01e1 |
SMART |
LRR
|
139 |
164 |
1.89e-1 |
SMART |
LRR
|
165 |
190 |
2.27e-4 |
SMART |
LRR
|
192 |
217 |
3.47e0 |
SMART |
LRR
|
218 |
243 |
2.57e-3 |
SMART |
LRR
|
244 |
269 |
2.05e1 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000223903
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000223917
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224094
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000225323
AA Change: R175H
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225072
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224444
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000224447
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000225781
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225770
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.2%
|
Validation Efficiency |
100% (44/44) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a Plekstrin homology and SEC7 domains-containing protein that functions as a guanine nucleotide exchange factor. The encoded protein regulates signal transduction by activating ADP-ribosylation factor 6. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700018B08Rik |
G |
T |
8: 122,266,719 (GRCm39) |
Q56K |
possibly damaging |
Het |
Adam18 |
C |
A |
8: 25,119,726 (GRCm39) |
V518L |
probably benign |
Het |
Akap6 |
A |
T |
12: 53,188,236 (GRCm39) |
K1883N |
probably damaging |
Het |
Arhgef12 |
C |
A |
9: 42,916,847 (GRCm39) |
R432L |
probably damaging |
Het |
Armcx6 |
G |
T |
X: 133,650,505 (GRCm39) |
H109N |
possibly damaging |
Het |
Ctnnd2 |
C |
A |
15: 30,647,075 (GRCm39) |
A257E |
possibly damaging |
Het |
Depdc5 |
T |
A |
5: 33,101,459 (GRCm39) |
C322* |
probably null |
Het |
Enpp7 |
T |
C |
11: 118,881,827 (GRCm39) |
I324T |
probably damaging |
Het |
Gm14401 |
T |
C |
2: 176,778,789 (GRCm39) |
Y292H |
possibly damaging |
Het |
Gm6871 |
A |
T |
7: 41,196,148 (GRCm39) |
H196Q |
probably damaging |
Het |
Gm9964 |
T |
C |
11: 79,187,202 (GRCm39) |
T82A |
unknown |
Het |
Gria2 |
T |
A |
3: 80,618,084 (GRCm39) |
Q317L |
possibly damaging |
Het |
Grtp1 |
G |
A |
8: 13,239,705 (GRCm39) |
T134I |
probably benign |
Het |
Itpkb |
A |
T |
1: 180,155,363 (GRCm39) |
|
probably benign |
Het |
Kbtbd12 |
A |
G |
6: 88,595,488 (GRCm39) |
V114A |
probably benign |
Het |
Lama3 |
A |
T |
18: 12,713,398 (GRCm39) |
K3230M |
probably damaging |
Het |
Ly75 |
T |
C |
2: 60,158,217 (GRCm39) |
I1023V |
possibly damaging |
Het |
Myof |
C |
T |
19: 37,889,711 (GRCm39) |
V1287M |
probably damaging |
Het |
Myof |
T |
G |
19: 38,011,058 (GRCm39) |
D60A |
possibly damaging |
Het |
Narf |
A |
T |
11: 121,129,247 (GRCm39) |
E10D |
possibly damaging |
Het |
Nlrx1 |
A |
T |
9: 44,166,722 (GRCm39) |
|
probably benign |
Het |
Or10a3m |
A |
G |
7: 108,313,060 (GRCm39) |
M155V |
probably benign |
Het |
Or8b54 |
A |
G |
9: 38,686,664 (GRCm39) |
T38A |
probably benign |
Het |
Pabpc5 |
A |
G |
X: 118,838,321 (GRCm39) |
E212G |
probably benign |
Het |
Pidd1 |
A |
G |
7: 141,018,995 (GRCm39) |
F829L |
possibly damaging |
Het |
Pik3r2 |
G |
A |
8: 71,223,065 (GRCm39) |
R452C |
probably benign |
Het |
Pkn2 |
A |
G |
3: 142,515,438 (GRCm39) |
C658R |
probably damaging |
Het |
Rab39 |
G |
A |
9: 53,597,932 (GRCm39) |
A111V |
possibly damaging |
Het |
Rb1cc1 |
T |
A |
1: 6,318,494 (GRCm39) |
|
probably benign |
Het |
Rnf39 |
C |
A |
17: 37,254,035 (GRCm39) |
T19K |
probably damaging |
Het |
Slc16a3 |
C |
T |
11: 120,846,251 (GRCm39) |
T60M |
possibly damaging |
Het |
Slc26a4 |
G |
T |
12: 31,578,686 (GRCm39) |
H656N |
probably damaging |
Het |
Slc27a1 |
A |
G |
8: 72,032,431 (GRCm39) |
E184G |
probably damaging |
Het |
Smc6 |
T |
C |
12: 11,348,327 (GRCm39) |
V742A |
probably benign |
Het |
Thoc1 |
T |
A |
18: 9,968,787 (GRCm39) |
V186D |
probably damaging |
Het |
Uhrf2 |
T |
C |
19: 30,057,315 (GRCm39) |
V491A |
probably damaging |
Het |
Uri1 |
A |
G |
7: 37,664,927 (GRCm39) |
V253A |
possibly damaging |
Het |
Vmn2r83 |
T |
A |
10: 79,327,154 (GRCm39) |
N587K |
probably benign |
Het |
Vmn2r88 |
A |
T |
14: 51,650,647 (GRCm39) |
Y120F |
probably benign |
Het |
Wwox |
G |
A |
8: 115,215,673 (GRCm39) |
A149T |
probably damaging |
Het |
Zfp536 |
T |
C |
7: 37,173,255 (GRCm39) |
*282W |
probably null |
Het |
|
Other mutations in Psd |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01291:Psd
|
APN |
19 |
46,303,186 (GRCm39) |
missense |
possibly damaging |
0.77 |
IGL01307:Psd
|
APN |
19 |
46,303,097 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02329:Psd
|
APN |
19 |
46,308,098 (GRCm39) |
missense |
possibly damaging |
0.66 |
IGL02423:Psd
|
APN |
19 |
46,302,943 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL02644:Psd
|
APN |
19 |
46,311,834 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02724:Psd
|
APN |
19 |
46,307,984 (GRCm39) |
missense |
probably benign |
0.04 |
IGL03117:Psd
|
APN |
19 |
46,311,561 (GRCm39) |
unclassified |
probably benign |
|
ANU05:Psd
|
UTSW |
19 |
46,303,186 (GRCm39) |
missense |
possibly damaging |
0.77 |
G1Funyon:Psd
|
UTSW |
19 |
46,309,541 (GRCm39) |
intron |
probably benign |
|
P0035:Psd
|
UTSW |
19 |
46,309,400 (GRCm39) |
missense |
possibly damaging |
0.56 |
R0054:Psd
|
UTSW |
19 |
46,311,781 (GRCm39) |
missense |
probably damaging |
1.00 |
R0054:Psd
|
UTSW |
19 |
46,311,781 (GRCm39) |
missense |
probably damaging |
1.00 |
R0403:Psd
|
UTSW |
19 |
46,309,411 (GRCm39) |
unclassified |
probably benign |
|
R0499:Psd
|
UTSW |
19 |
46,310,600 (GRCm39) |
missense |
probably damaging |
0.98 |
R0542:Psd
|
UTSW |
19 |
46,302,649 (GRCm39) |
missense |
probably damaging |
1.00 |
R0543:Psd
|
UTSW |
19 |
46,307,956 (GRCm39) |
missense |
possibly damaging |
0.62 |
R0894:Psd
|
UTSW |
19 |
46,301,880 (GRCm39) |
missense |
probably damaging |
1.00 |
R1449:Psd
|
UTSW |
19 |
46,313,250 (GRCm39) |
missense |
probably damaging |
0.99 |
R1586:Psd
|
UTSW |
19 |
46,303,237 (GRCm39) |
missense |
probably damaging |
0.98 |
R2096:Psd
|
UTSW |
19 |
46,313,088 (GRCm39) |
splice site |
probably null |
|
R2504:Psd
|
UTSW |
19 |
46,313,352 (GRCm39) |
missense |
possibly damaging |
0.90 |
R2857:Psd
|
UTSW |
19 |
46,312,859 (GRCm39) |
missense |
probably benign |
0.00 |
R2863:Psd
|
UTSW |
19 |
46,303,201 (GRCm39) |
missense |
probably damaging |
0.97 |
R3897:Psd
|
UTSW |
19 |
46,313,024 (GRCm39) |
missense |
possibly damaging |
0.93 |
R3970:Psd
|
UTSW |
19 |
46,312,845 (GRCm39) |
missense |
probably benign |
|
R4435:Psd
|
UTSW |
19 |
46,302,933 (GRCm39) |
missense |
probably damaging |
1.00 |
R4612:Psd
|
UTSW |
19 |
46,301,778 (GRCm39) |
missense |
probably benign |
0.15 |
R4940:Psd
|
UTSW |
19 |
46,310,856 (GRCm39) |
missense |
probably damaging |
1.00 |
R5055:Psd
|
UTSW |
19 |
46,310,907 (GRCm39) |
missense |
probably benign |
0.00 |
R5485:Psd
|
UTSW |
19 |
46,304,528 (GRCm39) |
splice site |
probably null |
|
R5768:Psd
|
UTSW |
19 |
46,301,178 (GRCm39) |
missense |
possibly damaging |
0.84 |
R5775:Psd
|
UTSW |
19 |
46,303,211 (GRCm39) |
nonsense |
probably null |
|
R6057:Psd
|
UTSW |
19 |
46,311,753 (GRCm39) |
missense |
possibly damaging |
0.77 |
R6349:Psd
|
UTSW |
19 |
46,301,826 (GRCm39) |
splice site |
probably null |
|
R6496:Psd
|
UTSW |
19 |
46,308,753 (GRCm39) |
missense |
probably damaging |
1.00 |
R6614:Psd
|
UTSW |
19 |
46,301,851 (GRCm39) |
missense |
probably benign |
0.11 |
R6820:Psd
|
UTSW |
19 |
46,309,283 (GRCm39) |
missense |
probably damaging |
1.00 |
R6849:Psd
|
UTSW |
19 |
46,306,185 (GRCm39) |
missense |
probably damaging |
0.97 |
R6860:Psd
|
UTSW |
19 |
46,310,858 (GRCm39) |
missense |
probably damaging |
1.00 |
R7286:Psd
|
UTSW |
19 |
46,303,240 (GRCm39) |
missense |
probably damaging |
0.98 |
R7326:Psd
|
UTSW |
19 |
46,312,893 (GRCm39) |
missense |
probably benign |
0.01 |
R7351:Psd
|
UTSW |
19 |
46,310,869 (GRCm39) |
missense |
probably benign |
0.27 |
R7593:Psd
|
UTSW |
19 |
46,301,352 (GRCm39) |
missense |
possibly damaging |
0.47 |
R7614:Psd
|
UTSW |
19 |
46,301,877 (GRCm39) |
missense |
probably damaging |
1.00 |
R7943:Psd
|
UTSW |
19 |
46,313,169 (GRCm39) |
missense |
possibly damaging |
0.54 |
R8301:Psd
|
UTSW |
19 |
46,309,541 (GRCm39) |
intron |
probably benign |
|
R8498:Psd
|
UTSW |
19 |
46,312,788 (GRCm39) |
missense |
probably damaging |
1.00 |
R8712:Psd
|
UTSW |
19 |
46,301,775 (GRCm39) |
missense |
probably damaging |
1.00 |
R8952:Psd
|
UTSW |
19 |
46,310,900 (GRCm39) |
missense |
probably damaging |
1.00 |
R8980:Psd
|
UTSW |
19 |
46,310,657 (GRCm39) |
missense |
possibly damaging |
0.95 |
R9168:Psd
|
UTSW |
19 |
46,309,233 (GRCm39) |
missense |
probably damaging |
1.00 |
R9322:Psd
|
UTSW |
19 |
46,301,880 (GRCm39) |
missense |
probably damaging |
1.00 |
R9512:Psd
|
UTSW |
19 |
46,306,154 (GRCm39) |
missense |
possibly damaging |
0.79 |
R9569:Psd
|
UTSW |
19 |
46,308,717 (GRCm39) |
missense |
possibly damaging |
0.94 |
R9638:Psd
|
UTSW |
19 |
46,301,841 (GRCm39) |
frame shift |
probably null |
|
R9645:Psd
|
UTSW |
19 |
46,301,841 (GRCm39) |
frame shift |
probably null |
|
R9721:Psd
|
UTSW |
19 |
46,311,628 (GRCm39) |
missense |
probably benign |
0.00 |
Z1177:Psd
|
UTSW |
19 |
46,313,100 (GRCm39) |
missense |
probably benign |
0.16 |
|
Predicted Primers |
PCR Primer
(F):5'- TTTGTCCCTTAGCTGAGGTACTAG -3'
(R):5'- CGTTTTGTGGAGAAGGCCAG -3'
Sequencing Primer
(F):5'- TTAGCTGAGGTACTAGGGCCC -3'
(R):5'- AATGGCCTACCTGCTTCTGGAG -3'
|
Posted On |
2015-04-29 |