Incidental Mutation 'R6349:Psd'
| ID |
512478 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Psd
|
| Ensembl Gene |
ENSMUSG00000037126 |
| Gene Name |
pleckstrin and Sec7 domain containing |
| Synonyms |
Efa6, Psdl, Efa6a, 1110007H17Rik |
| MMRRC Submission |
044503-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6349 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
46300526-46315595 bp(-) (GRCm39) |
| Type of Mutation |
splice site (1297 bp from exon) |
| DNA Base Change (assembly) |
T to G
at 46301826 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107512
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041391]
[ENSMUST00000073116]
[ENSMUST00000096029]
[ENSMUST00000111881]
[ENSMUST00000224556]
[ENSMUST00000225323]
|
| AlphaFold |
Q5DTT2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000041391
AA Change: E920A
PolyPhen 2
Score 0.669 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000039728
Gene: ENSMUSG00000037126
AA Change: E920A
| 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 null
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: E921A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000093729
Gene: ENSMUSG00000037126
AA Change: E921A
| 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 null
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: E289A
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000225323
AA Change: E921A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225748
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226062
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.9%
- 20x: 93.6%
|
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700012A03Rik |
A |
G |
6: 32,028,595 (GRCm39) |
Y9C |
probably benign |
Het |
| 4930433I11Rik |
A |
C |
7: 40,644,196 (GRCm39) |
M622L |
possibly damaging |
Het |
| Abca8b |
C |
T |
11: 109,825,544 (GRCm39) |
|
probably null |
Het |
| Adam28 |
T |
C |
14: 68,870,621 (GRCm39) |
I351V |
probably benign |
Het |
| Adgrd1 |
A |
C |
5: 129,219,603 (GRCm39) |
|
probably null |
Het |
| Ank3 |
T |
A |
10: 69,815,269 (GRCm39) |
I473N |
probably damaging |
Het |
| Ankrd6 |
A |
T |
4: 32,822,231 (GRCm39) |
H179Q |
probably damaging |
Het |
| Ano6 |
A |
G |
15: 95,863,903 (GRCm39) |
R808G |
probably damaging |
Het |
| Anxa8 |
A |
T |
14: 33,819,850 (GRCm39) |
I280F |
probably damaging |
Het |
| Asb2 |
C |
T |
12: 103,312,118 (GRCm39) |
M1I |
probably null |
Het |
| Astn1 |
C |
T |
1: 158,491,691 (GRCm39) |
Q1023* |
probably null |
Het |
| Cast |
T |
A |
13: 74,869,314 (GRCm39) |
E542D |
probably damaging |
Het |
| Ccdc162 |
C |
T |
10: 41,570,396 (GRCm39) |
E30K |
probably damaging |
Het |
| Ccdc87 |
T |
C |
19: 4,891,347 (GRCm39) |
V613A |
probably damaging |
Het |
| Cdk13 |
T |
C |
13: 17,926,304 (GRCm39) |
N832S |
probably damaging |
Het |
| Celsr1 |
T |
A |
15: 85,915,885 (GRCm39) |
N696I |
probably damaging |
Het |
| Chd3 |
T |
C |
11: 69,254,857 (GRCm39) |
E161G |
possibly damaging |
Het |
| Cxcr4 |
C |
A |
1: 128,517,014 (GRCm39) |
V216F |
possibly damaging |
Het |
| Cyp4a10 |
A |
G |
4: 115,382,555 (GRCm39) |
I282V |
probably benign |
Het |
| Deaf1 |
T |
C |
7: 140,902,863 (GRCm39) |
T154A |
possibly damaging |
Het |
| Dido1 |
A |
T |
2: 180,302,494 (GRCm39) |
D1803E |
probably benign |
Het |
| Dmxl2 |
T |
C |
9: 54,327,193 (GRCm39) |
D944G |
possibly damaging |
Het |
| Dnah5 |
G |
A |
15: 28,238,657 (GRCm39) |
V400M |
probably damaging |
Het |
| Fbxo15 |
A |
G |
18: 84,982,267 (GRCm39) |
I240V |
probably benign |
Het |
| Fcrl2 |
A |
G |
3: 87,159,803 (GRCm39) |
C484R |
probably damaging |
Het |
| Fech |
G |
T |
18: 64,603,856 (GRCm39) |
Y164* |
probably null |
Het |
| Fer1l5 |
T |
A |
1: 36,450,355 (GRCm39) |
W1175R |
probably damaging |
Het |
| Fgfrl1 |
T |
C |
5: 108,853,372 (GRCm39) |
Y241H |
probably damaging |
Het |
| Flvcr2 |
T |
C |
12: 85,793,974 (GRCm39) |
Y117H |
probably benign |
Het |
| Fsip2 |
T |
A |
2: 82,823,416 (GRCm39) |
M6383K |
probably benign |
Het |
| Gcc2 |
T |
A |
10: 58,105,296 (GRCm39) |
D141E |
probably benign |
Het |
| Glt1d1 |
A |
C |
5: 127,783,950 (GRCm39) |
R301S |
probably benign |
Het |
| Hars1 |
G |
C |
18: 36,916,107 (GRCm39) |
A16G |
probably benign |
Het |
| Hmcn2 |
G |
T |
2: 31,278,385 (GRCm39) |
G1696C |
probably damaging |
Het |
| Hydin |
T |
A |
8: 111,145,091 (GRCm39) |
L814* |
probably null |
Het |
| Izumo4 |
T |
A |
10: 80,538,551 (GRCm39) |
M1K |
probably null |
Het |
| Kdm5d |
T |
A |
Y: 916,847 (GRCm39) |
M414K |
probably damaging |
Homo |
| Kif21b |
G |
A |
1: 136,086,064 (GRCm39) |
V812I |
probably damaging |
Het |
| Map3k7 |
A |
G |
4: 31,988,661 (GRCm39) |
D270G |
possibly damaging |
Het |
| Mical3 |
A |
G |
6: 120,936,486 (GRCm39) |
S1347P |
probably benign |
Het |
| Mras |
T |
A |
9: 99,276,669 (GRCm39) |
D67V |
probably damaging |
Het |
| Mtnr1b |
A |
T |
9: 15,774,509 (GRCm39) |
Y183* |
probably null |
Het |
| Muc16 |
A |
T |
9: 18,568,625 (GRCm39) |
L1298Q |
unknown |
Het |
| Myh2 |
A |
T |
11: 67,083,829 (GRCm39) |
I1536F |
probably benign |
Het |
| Or7c19 |
T |
C |
8: 85,957,787 (GRCm39) |
I221T |
possibly damaging |
Het |
| Osmr |
G |
T |
15: 6,850,544 (GRCm39) |
D686E |
probably benign |
Het |
| Pah |
T |
A |
10: 87,414,831 (GRCm39) |
D394E |
probably benign |
Het |
| Pla1a |
T |
A |
16: 38,237,486 (GRCm39) |
S71C |
probably benign |
Het |
| Proc |
T |
A |
18: 32,266,486 (GRCm39) |
I114L |
probably benign |
Het |
| Psmb6 |
C |
T |
11: 70,418,364 (GRCm39) |
Q226* |
probably null |
Het |
| Rnpepl1 |
A |
T |
1: 92,847,563 (GRCm39) |
N717Y |
probably damaging |
Het |
| Rundc1 |
T |
C |
11: 101,324,988 (GRCm39) |
S565P |
probably benign |
Het |
| Serpinb5 |
T |
A |
1: 106,809,495 (GRCm39) |
S300R |
probably benign |
Het |
| Serpinf2 |
T |
C |
11: 75,323,257 (GRCm39) |
D483G |
probably damaging |
Het |
| Sgsm3 |
T |
C |
15: 80,892,547 (GRCm39) |
I291T |
probably benign |
Het |
| Smg6 |
T |
A |
11: 74,944,600 (GRCm39) |
D116E |
possibly damaging |
Het |
| Srfbp1 |
G |
T |
18: 52,622,034 (GRCm39) |
S365I |
probably benign |
Het |
| Stkld1 |
A |
G |
2: 26,835,872 (GRCm39) |
T236A |
probably benign |
Het |
| Susd5 |
T |
C |
9: 113,924,870 (GRCm39) |
V251A |
probably benign |
Het |
| Tcf25 |
A |
G |
8: 124,118,332 (GRCm39) |
Y314C |
probably damaging |
Het |
| Tmem210 |
A |
G |
2: 25,179,048 (GRCm39) |
D112G |
possibly damaging |
Het |
| Tubb2b |
A |
G |
13: 34,311,528 (GRCm39) |
Y422H |
probably damaging |
Het |
| Tyw1 |
T |
C |
5: 130,305,872 (GRCm39) |
S332P |
possibly damaging |
Het |
| Vmn1r29 |
A |
C |
6: 58,284,412 (GRCm39) |
Q44P |
probably damaging |
Het |
| Vrtn |
T |
C |
12: 84,695,792 (GRCm39) |
S181P |
probably damaging |
Het |
| Wdr76 |
T |
A |
2: 121,364,712 (GRCm39) |
Y437N |
possibly damaging |
Het |
| Zc3h18 |
C |
A |
8: 123,135,025 (GRCm39) |
|
probably benign |
Het |
| Zfp287 |
G |
T |
11: 62,616,168 (GRCm39) |
D174E |
probably damaging |
Het |
| Zfp800 |
A |
T |
6: 28,244,601 (GRCm39) |
Y121* |
probably null |
Het |
| Zfyve19 |
T |
A |
2: 119,041,078 (GRCm39) |
L57Q |
probably 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 |
|
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'- AGAGATCTGCCAGTCACCTAG -3'
(R):5'- CAGTAAGCCATAGTCCAGGCTG -3'
Sequencing Primer
(F):5'- AGTCACCTAGCTGGGTTCC -3'
(R):5'- CATAGTCCAGGCTGCATGTG -3'
|
| Posted On |
2018-04-27 |
Incidental Mutation