Incidental Mutation 'IGL02329:Psd'
| ID |
288604 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Psd
|
| Ensembl Gene |
ENSMUSG00000037126 |
| Gene Name |
pleckstrin and Sec7 domain containing |
| Synonyms |
Efa6, Psdl, Efa6a, 1110007H17Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02329
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
46300526-46315595 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 46308098 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 667
(H667R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000039728
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041391]
[ENSMUST00000096029]
[ENSMUST00000224447]
[ENSMUST00000224556]
[ENSMUST00000225323]
|
| AlphaFold |
Q5DTT2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000041391
AA Change: H667R
PolyPhen 2
Score 0.657 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000039728
Gene: ENSMUSG00000037126
AA Change: H667R
| 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 |
possibly damaging
Transcript: ENSMUST00000096029
AA Change: H668R
PolyPhen 2
Score 0.648 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000093729
Gene: ENSMUSG00000037126
AA Change: H668R
| 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 |
noncoding transcript
Transcript: ENSMUST00000224094
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224447
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224556
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000225323
AA Change: H668R
PolyPhen 2
Score 0.648 (Sensitivity: 0.87; Specificity: 0.91)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225748
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225770
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atg2a |
T |
C |
19: 6,299,959 (GRCm39) |
|
probably null |
Het |
| Bfsp1 |
T |
C |
2: 143,704,566 (GRCm39) |
T96A |
probably benign |
Het |
| Btnl1 |
A |
G |
17: 34,601,239 (GRCm39) |
E322G |
possibly damaging |
Het |
| Cand2 |
T |
C |
6: 115,766,568 (GRCm39) |
V391A |
probably damaging |
Het |
| Ccdc169 |
A |
G |
3: 55,078,702 (GRCm39) |
M188V |
probably benign |
Het |
| Cngb1 |
T |
C |
8: 95,968,987 (GRCm39) |
I1174V |
probably benign |
Het |
| Cpeb4 |
T |
C |
11: 31,822,316 (GRCm39) |
V10A |
possibly damaging |
Het |
| Cpt1b |
T |
C |
15: 89,307,942 (GRCm39) |
T206A |
probably benign |
Het |
| Dapk3 |
T |
C |
10: 81,025,999 (GRCm39) |
S97P |
probably benign |
Het |
| Drc3 |
T |
C |
11: 60,261,404 (GRCm39) |
L185P |
probably damaging |
Het |
| Efr3b |
T |
C |
12: 4,042,923 (GRCm39) |
|
probably null |
Het |
| Erbb3 |
T |
A |
10: 128,409,088 (GRCm39) |
I742F |
probably damaging |
Het |
| Fktn |
A |
G |
4: 53,720,181 (GRCm39) |
Y65C |
probably benign |
Het |
| Fstl5 |
G |
A |
3: 76,496,302 (GRCm39) |
G355D |
probably damaging |
Het |
| Grm8 |
A |
T |
6: 27,363,115 (GRCm39) |
I800N |
probably damaging |
Het |
| Gss |
C |
T |
2: 155,409,773 (GRCm39) |
R221H |
probably benign |
Het |
| H2-M10.4 |
A |
T |
17: 36,771,359 (GRCm39) |
V273D |
probably damaging |
Het |
| Large1 |
C |
A |
8: 73,774,945 (GRCm39) |
W255L |
possibly damaging |
Het |
| Meig1 |
T |
C |
2: 3,410,288 (GRCm39) |
K71E |
probably damaging |
Het |
| Mtor |
A |
G |
4: 148,619,396 (GRCm39) |
N1760D |
probably benign |
Het |
| Ncapd2 |
A |
T |
6: 125,166,781 (GRCm39) |
N24K |
probably damaging |
Het |
| Nphp3 |
A |
C |
9: 103,903,167 (GRCm39) |
S715R |
probably benign |
Het |
| Papolg |
T |
G |
11: 23,841,869 (GRCm39) |
H18P |
probably damaging |
Het |
| Rita1 |
C |
T |
5: 120,747,858 (GRCm39) |
A147T |
probably damaging |
Het |
| Rtp1 |
T |
C |
16: 23,249,943 (GRCm39) |
S103P |
probably damaging |
Het |
| Snx21 |
T |
C |
2: 164,634,310 (GRCm39) |
|
probably benign |
Het |
| Spmip3 |
A |
T |
1: 177,570,867 (GRCm39) |
Q67L |
probably benign |
Het |
| Tiam1 |
G |
T |
16: 89,596,924 (GRCm39) |
H301N |
probably benign |
Het |
| Trcg1 |
A |
T |
9: 57,147,676 (GRCm39) |
I11F |
possibly damaging |
Het |
| Trpm6 |
A |
G |
19: 18,831,581 (GRCm39) |
K1482R |
probably benign |
Het |
| Tyw1 |
G |
T |
5: 130,295,921 (GRCm39) |
G116V |
probably benign |
Het |
| Zfp341 |
T |
C |
2: 154,474,224 (GRCm39) |
C343R |
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 |
|
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 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation