Incidental Mutation 'R7943:Psd'
| ID |
649199 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Psd
|
| Ensembl Gene |
ENSMUSG00000037126 |
| Gene Name |
pleckstrin and Sec7 domain containing |
| Synonyms |
Efa6, Psdl, Efa6a, 1110007H17Rik |
| MMRRC Submission |
045989-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7943 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
46300526-46315595 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 46313169 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Phenylalanine
at position 67
(C67F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000039728
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026256]
[ENSMUST00000041391]
[ENSMUST00000096029]
[ENSMUST00000177667]
[ENSMUST00000223903]
[ENSMUST00000223917]
[ENSMUST00000224447]
[ENSMUST00000225323]
[ENSMUST00000225781]
|
| AlphaFold |
Q5DTT2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026256
|
| SMART Domains |
Protein: ENSMUSP00000026256
Gene: ENSMUSG00000025226
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:F-box
|
18 |
63 |
1.9e-6 |
PFAM |
|
low complexity region
|
76 |
84 |
N/A |
INTRINSIC |
|
LRR
|
113 |
138 |
1.01e1 |
SMART |
|
LRR
|
139 |
164 |
1.89e-1 |
SMART |
|
LRR
|
165 |
190 |
2.27e-4 |
SMART |
|
LRR
|
192 |
217 |
3.47e0 |
SMART |
|
LRR
|
218 |
243 |
2.57e-3 |
SMART |
|
LRR
|
244 |
269 |
2.05e1 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000041391
AA Change: C67F
PolyPhen 2
Score 0.542 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000039728
Gene: ENSMUSG00000037126
AA Change: C67F
| 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: C67F
PolyPhen 2
Score 0.616 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000093729
Gene: ENSMUSG00000037126
AA Change: C67F
| 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: ENSMUST00000177667
|
| SMART Domains |
Protein: ENSMUSP00000137489
Gene: ENSMUSG00000025226
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:F-box
|
18 |
63 |
2.1e-6 |
PFAM |
|
low complexity region
|
76 |
84 |
N/A |
INTRINSIC |
|
LRR
|
113 |
138 |
1.01e1 |
SMART |
|
LRR
|
139 |
164 |
1.89e-1 |
SMART |
|
LRR
|
165 |
190 |
2.27e-4 |
SMART |
|
LRR
|
192 |
217 |
3.47e0 |
SMART |
|
LRR
|
218 |
243 |
2.57e-3 |
SMART |
|
LRR
|
244 |
269 |
2.05e1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223903
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223917
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000224447
AA Change: C67F
PolyPhen 2
Score 0.542 (Sensitivity: 0.88; Specificity: 0.91)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000225323
AA Change: C67F
PolyPhen 2
Score 0.616 (Sensitivity: 0.87; Specificity: 0.91)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225781
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (68/68) |
| 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: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1a |
C |
T |
5: 8,736,222 (GRCm39) |
T205I |
probably benign |
Het |
| Acsbg1 |
T |
C |
9: 54,530,021 (GRCm39) |
H225R |
probably damaging |
Het |
| Anks1 |
T |
A |
17: 28,204,178 (GRCm39) |
Y209N |
probably damaging |
Het |
| Appl1 |
T |
A |
14: 26,667,525 (GRCm39) |
I377L |
probably benign |
Het |
| Arl9 |
A |
T |
5: 77,158,395 (GRCm39) |
D159V |
probably damaging |
Het |
| Arsa |
A |
C |
15: 89,358,292 (GRCm39) |
L339R |
probably damaging |
Het |
| C2 |
A |
G |
17: 35,091,354 (GRCm39) |
L380P |
probably damaging |
Het |
| Ccdc13 |
A |
G |
9: 121,628,196 (GRCm39) |
C97R |
unknown |
Het |
| Ccdc74a |
A |
G |
16: 17,468,416 (GRCm39) |
H346R |
probably benign |
Het |
| Ccnl1 |
T |
C |
3: 65,864,326 (GRCm39) |
I152V |
probably benign |
Het |
| Cd4 |
C |
T |
6: 124,847,207 (GRCm39) |
|
probably null |
Het |
| Ceacam5 |
A |
T |
7: 17,479,491 (GRCm39) |
I203L |
probably benign |
Het |
| Ckap2 |
C |
A |
8: 22,665,090 (GRCm39) |
R458L |
probably damaging |
Het |
| Cldn10 |
T |
C |
14: 119,099,271 (GRCm39) |
|
probably null |
Het |
| Col27a1 |
C |
T |
4: 63,236,520 (GRCm39) |
R1377C |
unknown |
Het |
| Cry1 |
A |
T |
10: 84,978,984 (GRCm39) |
M514K |
probably benign |
Het |
| Crybg2 |
T |
G |
4: 133,800,295 (GRCm39) |
V176G |
probably damaging |
Het |
| Cyp2j5 |
C |
T |
4: 96,547,849 (GRCm39) |
G131D |
possibly damaging |
Het |
| Ddx46 |
A |
G |
13: 55,817,535 (GRCm39) |
Y720C |
probably damaging |
Het |
| Dock10 |
A |
T |
1: 80,626,006 (GRCm39) |
V44D |
probably damaging |
Het |
| Eif1ad8 |
C |
T |
12: 87,563,773 (GRCm39) |
A36V |
probably damaging |
Het |
| Enam |
A |
T |
5: 88,636,410 (GRCm39) |
|
probably null |
Het |
| Fam184a |
C |
A |
10: 53,509,802 (GRCm39) |
E126* |
probably null |
Het |
| Fam184a |
C |
T |
10: 53,523,137 (GRCm39) |
A956T |
probably damaging |
Het |
| Fbxw10 |
A |
T |
11: 62,741,487 (GRCm39) |
R202* |
probably null |
Het |
| Fnip1 |
A |
G |
11: 54,393,214 (GRCm39) |
E550G |
probably damaging |
Het |
| Gpr149 |
A |
G |
3: 62,438,132 (GRCm39) |
L675P |
probably damaging |
Het |
| Hivep3 |
T |
C |
4: 119,989,554 (GRCm39) |
Y2002H |
probably benign |
Het |
| Hp |
A |
G |
8: 110,302,187 (GRCm39) |
Y254H |
probably damaging |
Het |
| Ighg1 |
G |
T |
12: 113,293,957 (GRCm39) |
T62N |
|
Het |
| Jcad |
A |
G |
18: 4,672,700 (GRCm39) |
E154G |
probably damaging |
Het |
| Kmt2a |
A |
G |
9: 44,760,437 (GRCm39) |
S471P |
probably damaging |
Het |
| Med13 |
A |
G |
11: 86,169,352 (GRCm39) |
V1968A |
probably damaging |
Het |
| Mknk2 |
T |
A |
10: 80,511,701 (GRCm39) |
Q3L |
probably benign |
Het |
| Nup98 |
G |
A |
7: 101,844,029 (GRCm39) |
T65I |
probably benign |
Het |
| Or10p21 |
T |
A |
10: 128,847,934 (GRCm39) |
M260K |
possibly damaging |
Het |
| Or51f1e |
G |
A |
7: 102,747,153 (GRCm39) |
M68I |
probably damaging |
Het |
| Or5m11 |
A |
G |
2: 85,782,342 (GRCm39) |
T312A |
probably benign |
Het |
| Or9i14 |
A |
T |
19: 13,792,600 (GRCm39) |
M118K |
probably damaging |
Het |
| Pcdhgb4 |
C |
T |
18: 37,855,063 (GRCm39) |
T486I |
probably benign |
Het |
| Perm1 |
T |
A |
4: 156,302,991 (GRCm39) |
F512I |
probably damaging |
Het |
| Pgap3 |
A |
T |
11: 98,281,227 (GRCm39) |
L262Q |
probably damaging |
Het |
| Pklr |
A |
C |
3: 89,048,814 (GRCm39) |
Y126S |
probably damaging |
Het |
| Ppl |
C |
T |
16: 4,906,725 (GRCm39) |
R1190H |
probably damaging |
Het |
| Ppm1k |
T |
C |
6: 57,501,813 (GRCm39) |
T117A |
probably benign |
Het |
| Prkd2 |
G |
A |
7: 16,584,244 (GRCm39) |
E366K |
probably benign |
Het |
| Ptpra |
T |
A |
2: 30,322,056 (GRCm39) |
F100L |
probably damaging |
Het |
| Rftn1 |
G |
T |
17: 50,354,408 (GRCm39) |
A318D |
probably damaging |
Het |
| Rock1 |
T |
C |
18: 10,112,357 (GRCm39) |
E466G |
probably damaging |
Het |
| Sec16b |
A |
T |
1: 157,382,327 (GRCm39) |
M588L |
probably benign |
Het |
| Serpina1f |
T |
A |
12: 103,659,949 (GRCm39) |
H111L |
probably damaging |
Het |
| Sf3a1 |
T |
C |
11: 4,116,537 (GRCm39) |
I76T |
possibly damaging |
Het |
| Shcbp1 |
A |
T |
8: 4,798,812 (GRCm39) |
L369Q |
possibly damaging |
Het |
| Spef2 |
A |
G |
15: 9,601,171 (GRCm39) |
M1697T |
unknown |
Het |
| St7 |
G |
A |
6: 17,844,911 (GRCm39) |
C133Y |
probably damaging |
Het |
| Tdpoz6 |
A |
T |
3: 93,600,070 (GRCm39) |
C100S |
probably benign |
Het |
| Tex19.1 |
T |
A |
11: 121,037,986 (GRCm39) |
W115R |
possibly damaging |
Het |
| Tfrc |
T |
A |
16: 32,449,039 (GRCm39) |
I726N |
probably benign |
Het |
| Thbs1 |
A |
G |
2: 117,950,098 (GRCm39) |
|
probably null |
Het |
| Trim43a |
C |
T |
9: 88,464,238 (GRCm39) |
P50S |
probably benign |
Het |
| Trpm4 |
A |
T |
7: 44,958,105 (GRCm39) |
V935E |
probably damaging |
Het |
| Ttc12 |
A |
T |
9: 49,381,620 (GRCm39) |
V117D |
possibly damaging |
Het |
| Ulbp1 |
T |
C |
10: 7,407,053 (GRCm39) |
T82A |
probably damaging |
Het |
| Usp13 |
C |
T |
3: 32,931,089 (GRCm39) |
H288Y |
probably damaging |
Het |
| Vmn2r82 |
A |
G |
10: 79,232,079 (GRCm39) |
K693E |
possibly damaging |
Het |
| Vmn2r90 |
A |
G |
17: 17,932,566 (GRCm39) |
T158A |
probably damaging |
Het |
| Vps8 |
A |
G |
16: 21,296,622 (GRCm39) |
K540R |
possibly damaging |
Het |
| Zfp143 |
T |
A |
7: 109,671,681 (GRCm39) |
|
probably null |
Het |
| Zfp709 |
G |
T |
8: 72,643,933 (GRCm39) |
C454F |
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 |
|
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 |
|
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'- ATGCCTCTAGCCGCAACTTC -3'
(R):5'- TGTCTGAAGAGCATGCAGC -3'
Sequencing Primer
(F):5'- AACTTCCGGTTGCAGCCAG -3'
(R):5'- GCCATGCGCTTCTGCTCAG -3'
|
| Posted On |
2020-09-15 |
Incidental Mutation