Incidental Mutation 'IGL01307:Psd'
| ID |
73479 |
| 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 # |
IGL01307
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
46300526-46315595 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 46303097 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Arginine
at position 762
(G762R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152942
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041391]
[ENSMUST00000073116]
[ENSMUST00000096029]
[ENSMUST00000111881]
[ENSMUST00000224556]
[ENSMUST00000225323]
|
| AlphaFold |
Q5DTT2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000041391
AA Change: G761R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000039728
Gene: ENSMUSG00000037126
AA Change: G761R
| 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: ENSMUST00000073116
|
| SMART Domains |
Protein: ENSMUSP00000072859
Gene: ENSMUSG00000025225
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RHD_DNA_bind
|
40 |
220 |
1.3e-67 |
PFAM |
|
IPT
|
227 |
326 |
3.48e-27 |
SMART |
|
low complexity region
|
351 |
382 |
N/A |
INTRINSIC |
|
low complexity region
|
391 |
409 |
N/A |
INTRINSIC |
|
ANK
|
487 |
522 |
5.58e1 |
SMART |
|
ANK
|
526 |
555 |
9.78e-4 |
SMART |
|
ANK
|
559 |
591 |
3.74e0 |
SMART |
|
ANK
|
599 |
628 |
3.36e-2 |
SMART |
|
ANK
|
633 |
663 |
1.3e1 |
SMART |
|
ANK
|
667 |
696 |
4.26e-4 |
SMART |
|
low complexity region
|
707 |
721 |
N/A |
INTRINSIC |
|
ANK
|
729 |
758 |
2.35e3 |
SMART |
|
DEATH
|
764 |
851 |
5.52e-16 |
SMART |
|
low complexity region
|
879 |
894 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000096029
AA Change: G762R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000093729
Gene: ENSMUSG00000037126
AA Change: G762R
| 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: ENSMUST00000111881
|
| SMART Domains |
Protein: ENSMUSP00000107512
Gene: ENSMUSG00000025225
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RHD
|
40 |
220 |
1.3e-67 |
PFAM |
|
IPT
|
227 |
326 |
3.48e-27 |
SMART |
|
low complexity region
|
351 |
382 |
N/A |
INTRINSIC |
|
low complexity region
|
391 |
409 |
N/A |
INTRINSIC |
|
ANK
|
487 |
522 |
5.58e1 |
SMART |
|
ANK
|
526 |
555 |
9.78e-4 |
SMART |
|
ANK
|
559 |
591 |
3.74e0 |
SMART |
|
ANK
|
599 |
628 |
3.36e-2 |
SMART |
|
ANK
|
633 |
663 |
1.3e1 |
SMART |
|
ANK
|
667 |
696 |
4.26e-4 |
SMART |
|
low complexity region
|
707 |
721 |
N/A |
INTRINSIC |
|
ANK
|
729 |
758 |
2.35e3 |
SMART |
|
DEATH
|
764 |
851 |
5.52e-16 |
SMART |
|
low complexity region
|
879 |
894 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000224556
AA Change: G130R
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000225323
AA Change: G762R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225748
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226062
|
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
A |
11: 9,247,159 (GRCm39) |
M2302K |
possibly damaging |
Het |
| Actl9 |
A |
G |
17: 33,653,152 (GRCm39) |
E404G |
probably damaging |
Het |
| Adamts12 |
A |
T |
15: 11,237,632 (GRCm39) |
I314L |
possibly damaging |
Het |
| Card6 |
C |
A |
15: 5,129,484 (GRCm39) |
M637I |
possibly damaging |
Het |
| Ccdc122 |
G |
A |
14: 77,329,516 (GRCm39) |
|
probably benign |
Het |
| Cdh10 |
A |
G |
15: 18,899,886 (GRCm39) |
D71G |
probably benign |
Het |
| Cdk15 |
A |
T |
1: 59,326,955 (GRCm39) |
Y214F |
probably benign |
Het |
| Cdon |
A |
G |
9: 35,368,860 (GRCm39) |
K365E |
probably benign |
Het |
| Cyp2c37 |
T |
C |
19: 39,981,023 (GRCm39) |
V47A |
probably benign |
Het |
| Ddc |
T |
A |
11: 11,789,462 (GRCm39) |
D271V |
probably damaging |
Het |
| Dnah6 |
G |
A |
6: 73,042,708 (GRCm39) |
A3290V |
probably damaging |
Het |
| Dtl |
A |
T |
1: 191,302,811 (GRCm39) |
S20T |
possibly damaging |
Het |
| Egf |
A |
C |
3: 129,533,642 (GRCm39) |
I66S |
probably damaging |
Het |
| Eif4a3 |
T |
C |
11: 119,184,387 (GRCm39) |
K268E |
probably damaging |
Het |
| Fbxl16 |
A |
T |
17: 26,038,338 (GRCm39) |
|
probably benign |
Het |
| Fez2 |
C |
T |
17: 78,689,029 (GRCm39) |
|
probably benign |
Het |
| Fras1 |
C |
A |
5: 96,929,551 (GRCm39) |
T3985K |
probably benign |
Het |
| Gbp4 |
T |
C |
5: 105,284,887 (GRCm39) |
M1V |
probably null |
Het |
| Gpnmb |
A |
G |
6: 49,022,299 (GRCm39) |
D143G |
probably benign |
Het |
| Grm5 |
A |
T |
7: 87,724,220 (GRCm39) |
T837S |
probably damaging |
Het |
| Hmcn1 |
T |
C |
1: 150,620,752 (GRCm39) |
T1153A |
possibly damaging |
Het |
| Hp |
C |
T |
8: 110,302,415 (GRCm39) |
V178I |
probably benign |
Het |
| Macf1 |
A |
T |
4: 123,276,922 (GRCm39) |
V4061E |
probably damaging |
Het |
| Msto1 |
C |
A |
3: 88,820,993 (GRCm39) |
R34L |
probably benign |
Het |
| Mtf2 |
C |
T |
5: 108,254,756 (GRCm39) |
T519M |
probably damaging |
Het |
| Myo3a |
T |
A |
2: 22,448,301 (GRCm39) |
N25K |
probably damaging |
Het |
| Ncapd2 |
A |
G |
6: 125,145,582 (GRCm39) |
V1355A |
possibly damaging |
Het |
| Nhlrc2 |
C |
A |
19: 56,540,231 (GRCm39) |
Y73* |
probably null |
Het |
| Nwd2 |
A |
T |
5: 63,965,626 (GRCm39) |
S1737C |
possibly damaging |
Het |
| Or1p1 |
T |
A |
11: 74,180,254 (GRCm39) |
C261S |
possibly damaging |
Het |
| Osmr |
A |
G |
15: 6,873,908 (GRCm39) |
V163A |
probably damaging |
Het |
| Palm3 |
T |
C |
8: 84,756,074 (GRCm39) |
S529P |
possibly damaging |
Het |
| Pcnt |
A |
G |
10: 76,247,422 (GRCm39) |
Y1037H |
probably damaging |
Het |
| Pkhd1l1 |
T |
C |
15: 44,393,425 (GRCm39) |
I1920T |
possibly damaging |
Het |
| Plekha7 |
A |
G |
7: 115,744,479 (GRCm39) |
|
probably benign |
Het |
| Psmb8 |
A |
G |
17: 34,418,210 (GRCm39) |
T51A |
probably benign |
Het |
| Rbm12 |
A |
C |
2: 155,937,302 (GRCm39) |
|
probably benign |
Het |
| Rictor |
T |
A |
15: 6,804,085 (GRCm39) |
|
probably null |
Het |
| Slc24a5 |
G |
A |
2: 124,922,800 (GRCm39) |
G158S |
probably damaging |
Het |
| Spata31f1a |
G |
T |
4: 42,850,963 (GRCm39) |
L398I |
probably benign |
Het |
| Stag1 |
A |
G |
9: 100,833,841 (GRCm39) |
|
probably benign |
Het |
| Tln2 |
A |
G |
9: 67,302,749 (GRCm39) |
M74T |
probably benign |
Het |
| Trim24 |
C |
A |
6: 37,942,570 (GRCm39) |
D957E |
possibly damaging |
Het |
| Trpa1 |
A |
T |
1: 14,966,771 (GRCm39) |
M531K |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,736,637 (GRCm39) |
Y4376H |
possibly damaging |
Het |
| Twsg1 |
T |
C |
17: 66,255,646 (GRCm39) |
|
probably benign |
Het |
| Usp34 |
T |
A |
11: 23,367,676 (GRCm39) |
V1671E |
probably damaging |
Het |
| Vwa5b2 |
A |
G |
16: 20,423,020 (GRCm39) |
D1006G |
probably benign |
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 |
|
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 |
|
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 |
2013-10-07 |
Incidental Mutation