Incidental Mutation 'R6849:Psd'
ID |
534949 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Psd
|
Ensembl Gene |
ENSMUSG00000037126 |
Gene Name |
pleckstrin and Sec7 domain containing |
Synonyms |
Efa6, Psdl, Efa6a, 1110007H17Rik |
MMRRC Submission |
044953-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6849 (G1)
|
Quality Score |
205.009 |
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
46300526-46315595 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 46306185 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 36
(Y36H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000153381
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041391]
[ENSMUST00000096029]
[ENSMUST00000224556]
[ENSMUST00000225323]
|
AlphaFold |
Q5DTT2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000041391
|
SMART Domains |
Protein: ENSMUSP00000039728 Gene: ENSMUSG00000037126
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
|
SMART Domains |
Protein: ENSMUSP00000093729 Gene: ENSMUSG00000037126
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 damaging
Transcript: ENSMUST00000224556
AA Change: Y36H
PolyPhen 2
Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000225323
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.5%
|
Validation Efficiency |
100% (55/55) |
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: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310022B05Rik |
G |
T |
8: 125,366,261 (GRCm39) |
Q161K |
probably damaging |
Het |
4930578I06Rik |
A |
T |
14: 64,223,687 (GRCm39) |
W30R |
probably damaging |
Het |
4930578I06Rik |
G |
T |
14: 64,223,688 (GRCm39) |
N29K |
probably benign |
Het |
Aldh6a1 |
A |
G |
12: 84,490,561 (GRCm39) |
V18A |
probably benign |
Het |
Apoa5 |
A |
G |
9: 46,181,298 (GRCm39) |
K125E |
probably benign |
Het |
Atosa |
A |
C |
9: 74,916,594 (GRCm39) |
N398H |
probably damaging |
Het |
Bphl |
T |
A |
13: 34,234,252 (GRCm39) |
|
probably null |
Het |
C2cd3 |
T |
A |
7: 100,056,134 (GRCm39) |
V514E |
probably damaging |
Het |
Cacna1s |
G |
A |
1: 136,020,432 (GRCm39) |
R823Q |
probably benign |
Het |
Cep192 |
A |
G |
18: 67,945,506 (GRCm39) |
D202G |
probably benign |
Het |
Chd5 |
A |
T |
4: 152,462,995 (GRCm39) |
N1420Y |
probably damaging |
Het |
Cnot10 |
A |
T |
9: 114,461,004 (GRCm39) |
D55E |
probably benign |
Het |
Cntn1 |
T |
A |
15: 92,203,127 (GRCm39) |
I803N |
probably damaging |
Het |
Col7a1 |
G |
T |
9: 108,804,121 (GRCm39) |
V2217L |
unknown |
Het |
Cpne9 |
T |
G |
6: 113,279,079 (GRCm39) |
V491G |
probably damaging |
Het |
Cracd |
C |
A |
5: 77,004,857 (GRCm39) |
A406E |
unknown |
Het |
Cracd |
C |
T |
5: 77,005,004 (GRCm39) |
A455V |
unknown |
Het |
Csnk2a1 |
C |
A |
2: 152,092,484 (GRCm39) |
H18Q |
probably benign |
Het |
D130040H23Rik |
T |
A |
8: 69,755,303 (GRCm39) |
Y253* |
probably null |
Het |
Dnah14 |
A |
T |
1: 181,636,510 (GRCm39) |
M4321L |
probably benign |
Het |
Dnah5 |
A |
G |
15: 28,278,770 (GRCm39) |
T1122A |
probably benign |
Het |
Eif4g1 |
A |
G |
16: 20,499,495 (GRCm39) |
I515V |
probably benign |
Het |
Fbn1 |
T |
C |
2: 125,163,611 (GRCm39) |
K2082E |
possibly damaging |
Het |
Fstl1 |
A |
G |
16: 37,641,521 (GRCm39) |
K99R |
probably benign |
Het |
Gar1 |
T |
C |
3: 129,623,038 (GRCm39) |
N117S |
probably damaging |
Het |
Gm3238 |
A |
T |
10: 77,606,744 (GRCm39) |
|
probably benign |
Het |
Gm32742 |
C |
T |
9: 51,050,014 (GRCm39) |
M1528I |
probably benign |
Het |
H2-T3 |
T |
C |
17: 36,500,697 (GRCm39) |
I49V |
probably benign |
Het |
Hyou1 |
A |
G |
9: 44,298,561 (GRCm39) |
I581V |
probably damaging |
Het |
Itk |
T |
C |
11: 46,222,762 (GRCm39) |
N563S |
probably damaging |
Het |
Lingo1 |
A |
G |
9: 56,526,900 (GRCm39) |
L563P |
probably damaging |
Het |
Lipc |
A |
G |
9: 70,726,129 (GRCm39) |
|
probably null |
Het |
Map4k3 |
A |
C |
17: 80,937,842 (GRCm39) |
|
probably null |
Het |
Mctp2 |
C |
T |
7: 71,861,466 (GRCm39) |
C393Y |
probably damaging |
Het |
Mei1 |
T |
A |
15: 81,964,146 (GRCm39) |
L229M |
possibly damaging |
Het |
Or13g1 |
T |
C |
7: 85,956,248 (GRCm39) |
I24M |
possibly damaging |
Het |
Or9i2 |
G |
T |
19: 13,816,203 (GRCm39) |
C111* |
probably null |
Het |
Pcnx2 |
A |
G |
8: 126,587,949 (GRCm39) |
V833A |
probably damaging |
Het |
Pde8b |
T |
C |
13: 95,184,307 (GRCm39) |
N388D |
possibly damaging |
Het |
Pi4ka |
G |
A |
16: 17,121,285 (GRCm39) |
A1197V |
possibly damaging |
Het |
Scn8a |
T |
A |
15: 100,853,468 (GRCm39) |
|
probably null |
Het |
Shisa6 |
A |
G |
11: 66,416,327 (GRCm39) |
V155A |
probably benign |
Het |
Slc45a3 |
T |
A |
1: 131,905,702 (GRCm39) |
C242S |
probably damaging |
Het |
Sorbs1 |
G |
C |
19: 40,365,244 (GRCm39) |
R180G |
probably benign |
Het |
Tmc3 |
T |
A |
7: 83,235,565 (GRCm39) |
I54K |
probably damaging |
Het |
Tmprss11g |
T |
A |
5: 86,644,491 (GRCm39) |
I118F |
probably benign |
Het |
Ttn |
T |
A |
2: 76,744,687 (GRCm39) |
D5454V |
possibly damaging |
Het |
Ube2f |
A |
G |
1: 91,181,935 (GRCm39) |
|
probably null |
Het |
Ubr7 |
T |
C |
12: 102,724,342 (GRCm39) |
S19P |
probably damaging |
Het |
Vav3 |
T |
C |
3: 109,428,782 (GRCm39) |
V371A |
probably damaging |
Het |
Vmn2r28 |
A |
G |
7: 5,483,806 (GRCm39) |
V798A |
probably damaging |
Het |
Vmn2r95 |
T |
G |
17: 18,664,181 (GRCm39) |
C467G |
probably damaging |
Het |
Vmn2r95 |
G |
T |
17: 18,664,182 (GRCm39) |
C467F |
probably damaging |
Het |
Vps13b |
A |
G |
15: 35,905,455 (GRCm39) |
D3325G |
probably damaging |
Het |
Wnk2 |
T |
C |
13: 49,220,834 (GRCm39) |
T1158A |
probably damaging |
Het |
Zfp616 |
T |
A |
11: 73,976,276 (GRCm39) |
N848K |
possibly damaging |
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 |
R3967:Psd
|
UTSW |
19 |
46,312,845 (GRCm39) |
missense |
probably benign |
|
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 |
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'- GAGTTCCATCCTTGTTGGGC -3'
(R):5'- ACAAGCTGAAGGGTGCTCTG -3'
Sequencing Primer
(F):5'- ATGCCCTCCTCGAACGC -3'
(R):5'- TGAAGGGTGCTCTGGACGC -3'
|
Posted On |
2018-09-12 |