Incidental Mutation 'R7614:Psd'
ID |
588799 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Psd
|
Ensembl Gene |
ENSMUSG00000037126 |
Gene Name |
pleckstrin and Sec7 domain containing |
Synonyms |
Efa6, Psdl, Efa6a, 1110007H17Rik |
MMRRC Submission |
045682-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7614 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
46300526-46315595 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 46301877 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Leucine
at position 903
(Q903L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000039728
(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: Q903L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000039728 Gene: ENSMUSG00000037126 AA Change: Q903L
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: Q904L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000093729 Gene: ENSMUSG00000037126 AA Change: Q904L
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: Q272L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000225323
AA Change: Q904L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
100% (53/53) |
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: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abl2 |
A |
G |
1: 156,464,429 (GRCm39) |
T535A |
possibly damaging |
Het |
Adcy9 |
A |
T |
16: 4,236,088 (GRCm39) |
L441Q |
probably damaging |
Het |
Adgrv1 |
A |
T |
13: 81,668,780 (GRCm39) |
V2592E |
probably damaging |
Het |
Ahdc1 |
A |
G |
4: 132,790,825 (GRCm39) |
S689G |
probably benign |
Het |
Ankrd24 |
G |
A |
10: 81,474,523 (GRCm39) |
G229E |
unknown |
Het |
Ankrd34c |
T |
A |
9: 89,610,914 (GRCm39) |
I476F |
probably damaging |
Het |
Arhgef19 |
A |
G |
4: 140,984,090 (GRCm39) |
H770R |
possibly damaging |
Het |
Arhgef4 |
T |
G |
1: 34,771,316 (GRCm39) |
S1208A |
possibly damaging |
Het |
Arid1a |
A |
T |
4: 133,418,466 (GRCm39) |
M654K |
unknown |
Het |
Atp11b |
T |
A |
3: 35,864,259 (GRCm39) |
|
probably null |
Het |
Cadps |
A |
G |
14: 12,454,260 (GRCm38) |
I1086T |
probably damaging |
Het |
Ccng2 |
C |
G |
5: 93,421,202 (GRCm39) |
S237R |
probably benign |
Het |
Cfap276 |
T |
A |
3: 108,449,848 (GRCm39) |
D42E |
probably benign |
Het |
Cntn3 |
T |
C |
6: 102,142,337 (GRCm39) |
H1010R |
probably benign |
Het |
Cyp2c66 |
T |
A |
19: 39,159,472 (GRCm39) |
Y308N |
probably damaging |
Het |
Dok6 |
T |
A |
18: 89,492,067 (GRCm39) |
H170L |
probably damaging |
Het |
Eefsec |
C |
T |
6: 88,258,576 (GRCm39) |
D506N |
possibly damaging |
Het |
Fam181a |
C |
T |
12: 103,282,805 (GRCm39) |
P237S |
probably damaging |
Het |
Fam186b |
T |
C |
15: 99,184,867 (GRCm39) |
I19V |
probably damaging |
Het |
Gm3285 |
A |
T |
10: 77,697,865 (GRCm39) |
T5S |
unknown |
Het |
Heg1 |
A |
G |
16: 33,547,733 (GRCm39) |
E864G |
probably benign |
Het |
Herc2 |
T |
A |
7: 55,803,023 (GRCm39) |
L2124* |
probably null |
Het |
Hexa |
T |
C |
9: 59,469,230 (GRCm39) |
S331P |
probably damaging |
Het |
Hspb1 |
A |
T |
5: 135,917,223 (GRCm39) |
D104V |
probably damaging |
Het |
Ikzf1 |
A |
T |
11: 11,719,019 (GRCm39) |
Q329L |
probably damaging |
Het |
Kcnf1 |
C |
A |
12: 17,224,787 (GRCm39) |
R478L |
probably benign |
Het |
Kdm3a |
T |
C |
6: 71,568,937 (GRCm39) |
T1161A |
possibly damaging |
Het |
Krtap31-2 |
T |
C |
11: 99,827,429 (GRCm39) |
I87T |
possibly damaging |
Het |
Lars2 |
T |
C |
9: 123,224,176 (GRCm39) |
S116P |
|
Het |
Lrrk2 |
A |
G |
15: 91,657,061 (GRCm39) |
D1785G |
probably damaging |
Het |
Myo10 |
A |
G |
15: 25,701,709 (GRCm39) |
H61R |
probably benign |
Het |
Or10x4 |
T |
G |
1: 174,219,220 (GRCm39) |
F195C |
probably damaging |
Het |
Or9s13 |
A |
G |
1: 92,548,183 (GRCm39) |
Y185C |
probably damaging |
Het |
Pcdhb4 |
C |
A |
18: 37,442,602 (GRCm39) |
H637Q |
probably benign |
Het |
Pcsk9 |
T |
A |
4: 106,304,763 (GRCm39) |
D435V |
probably benign |
Het |
Prickle2 |
T |
A |
6: 92,402,631 (GRCm39) |
Y119F |
possibly damaging |
Het |
Prr5 |
A |
G |
15: 84,641,276 (GRCm39) |
T181A |
probably benign |
Het |
Ptpn13 |
T |
A |
5: 103,649,331 (GRCm39) |
S245T |
probably benign |
Het |
Resp18 |
T |
C |
1: 75,254,882 (GRCm39) |
S24G |
probably damaging |
Het |
Slc17a4 |
T |
C |
13: 24,090,580 (GRCm39) |
T89A |
probably benign |
Het |
Slc9a9 |
A |
G |
9: 94,737,792 (GRCm39) |
Y233C |
probably damaging |
Het |
Slit1 |
T |
A |
19: 41,622,639 (GRCm39) |
I707F |
probably damaging |
Het |
Sp4 |
T |
C |
12: 118,218,174 (GRCm39) |
E691G |
possibly damaging |
Het |
Sun2 |
G |
T |
15: 79,623,225 (GRCm39) |
|
probably null |
Het |
Syne3 |
T |
C |
12: 104,912,901 (GRCm39) |
T723A |
not run |
Het |
Tcp1 |
T |
A |
17: 13,141,540 (GRCm39) |
F340I |
possibly damaging |
Het |
Tmem39b |
A |
T |
4: 129,587,694 (GRCm39) |
V39D |
probably damaging |
Het |
Tmtc3 |
A |
T |
10: 100,286,214 (GRCm39) |
Y536* |
probably null |
Het |
Tnfrsf11a |
A |
T |
1: 105,755,094 (GRCm39) |
T389S |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,598,873 (GRCm39) |
T19347A |
possibly damaging |
Het |
Vmn1r68 |
A |
G |
7: 10,261,553 (GRCm39) |
S182P |
probably benign |
Het |
Vmn2r95 |
A |
G |
17: 18,660,352 (GRCm39) |
T255A |
probably benign |
Het |
Wdr59 |
T |
C |
8: 112,219,394 (GRCm39) |
Y221C |
|
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 |
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 |
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'- TCCTGTGTGGGAGATACCAAG -3'
(R):5'- CTCTCCCAGGTAGTTCCAAGTG -3'
Sequencing Primer
(F):5'- GGAGATACCAAGGCCCCAGTC -3'
(R):5'- CAGGTAGTTCCAAGTGGCTCAGTC -3'
|
Posted On |
2019-10-24 |