Incidental Mutation 'R9168:Psd'
| ID |
696223 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Psd
|
| Ensembl Gene |
ENSMUSG00000037126 |
| Gene Name |
pleckstrin and Sec7 domain containing |
| Synonyms |
Efa6, Psdl, Efa6a, 1110007H17Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9168 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
46300526-46315595 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 46309233 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Tyrosine
at position 575
(D575Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000039728
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041391]
[ENSMUST00000096029]
[ENSMUST00000223903]
[ENSMUST00000223917]
[ENSMUST00000224447]
[ENSMUST00000224556]
[ENSMUST00000225323]
[ENSMUST00000225781]
|
| AlphaFold |
Q5DTT2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000041391
AA Change: D575Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000039728
Gene: ENSMUSG00000037126
AA Change: D575Y
| 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 damaging
Transcript: ENSMUST00000096029
AA Change: D576Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000093729
Gene: ENSMUSG00000037126
AA Change: D576Y
| 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: ENSMUST00000223903
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223917
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224447
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224556
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000225323
AA Change: D576Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225781
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.9%
- 20x: 99.6%
|
| Validation Efficiency |
97% (67/69) |
| 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: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alppl2 |
T |
C |
1: 87,015,050 (GRCm39) |
Y437C |
probably damaging |
Het |
| Arhgef11 |
T |
G |
3: 87,633,790 (GRCm39) |
L808R |
probably damaging |
Het |
| Armc7 |
G |
A |
11: 115,366,724 (GRCm39) |
|
probably benign |
Het |
| Ascl1 |
T |
C |
10: 87,328,361 (GRCm39) |
N197S |
probably benign |
Het |
| Cdc42bpb |
T |
G |
12: 111,286,517 (GRCm39) |
E630D |
possibly damaging |
Het |
| Cep128 |
T |
C |
12: 91,233,794 (GRCm39) |
I425V |
probably damaging |
Het |
| Ces4a |
T |
A |
8: 105,876,050 (GRCm39) |
D530E |
probably benign |
Het |
| Ch25h |
T |
C |
19: 34,451,905 (GRCm39) |
I208V |
probably benign |
Het |
| Cnpy3 |
A |
C |
17: 47,063,019 (GRCm39) |
C11G |
unknown |
Het |
| Col12a1 |
A |
C |
9: 79,548,783 (GRCm39) |
Y2187* |
probably null |
Het |
| Cyp2c40 |
C |
T |
19: 39,755,819 (GRCm39) |
M498I |
probably benign |
Het |
| D630039A03Rik |
T |
A |
4: 57,910,113 (GRCm39) |
Y233F |
probably damaging |
Het |
| Dffa |
A |
T |
4: 149,192,226 (GRCm39) |
D100V |
probably damaging |
Het |
| Dock7 |
A |
T |
4: 98,953,643 (GRCm39) |
M363K |
|
Het |
| Dscam |
A |
G |
16: 96,420,768 (GRCm39) |
V1706A |
possibly damaging |
Het |
| En1 |
A |
G |
1: 120,530,892 (GRCm39) |
D44G |
unknown |
Het |
| Enpp4 |
T |
A |
17: 44,413,141 (GRCm39) |
N131I |
probably damaging |
Het |
| Ezh1 |
T |
C |
11: 101,086,433 (GRCm39) |
D587G |
probably damaging |
Het |
| Gm21149 |
G |
T |
5: 15,677,132 (GRCm39) |
H241N |
possibly damaging |
Het |
| Gna15 |
T |
C |
10: 81,350,192 (GRCm39) |
Y70C |
probably damaging |
Het |
| Gucy1a1 |
T |
G |
3: 82,009,353 (GRCm39) |
M552L |
probably damaging |
Het |
| Herc2 |
G |
A |
7: 55,802,208 (GRCm39) |
V2017M |
probably damaging |
Het |
| Hsf4 |
C |
T |
8: 105,999,373 (GRCm39) |
A297V |
probably benign |
Het |
| Ighd |
T |
A |
12: 113,379,203 (GRCm39) |
T122S |
|
Het |
| Iqca1 |
C |
T |
1: 90,065,937 (GRCm39) |
R218Q |
probably damaging |
Het |
| Isl2 |
C |
A |
9: 55,452,227 (GRCm39) |
S266R |
probably benign |
Het |
| Itpkb |
A |
C |
1: 180,160,028 (GRCm39) |
R51S |
probably benign |
Het |
| Jup |
A |
T |
11: 100,274,219 (GRCm39) |
|
probably null |
Het |
| Kbtbd6 |
T |
C |
14: 79,690,553 (GRCm39) |
V416A |
possibly damaging |
Het |
| Klhl22 |
T |
A |
16: 17,602,068 (GRCm39) |
Y372N |
probably damaging |
Het |
| Klrc3 |
T |
C |
6: 129,616,142 (GRCm39) |
E191G |
probably damaging |
Het |
| Lhx5 |
A |
G |
5: 120,570,410 (GRCm39) |
D22G |
probably benign |
Het |
| Marchf9 |
GGGCGGCGGCGGCGGCG |
GGGCGGCGGCGGCG |
10: 126,895,360 (GRCm39) |
|
probably benign |
Het |
| Mbtps1 |
A |
G |
8: 120,248,602 (GRCm39) |
I707T |
probably benign |
Het |
| Nbeal1 |
T |
A |
1: 60,331,047 (GRCm39) |
Y2219N |
probably damaging |
Het |
| Neb |
A |
G |
2: 52,085,696 (GRCm39) |
I5513T |
probably damaging |
Het |
| Nkx1-1 |
C |
T |
5: 33,591,131 (GRCm39) |
V64M |
unknown |
Het |
| Nme4 |
G |
T |
17: 26,314,389 (GRCm39) |
A13E |
probably benign |
Het |
| Or2g25 |
T |
C |
17: 37,971,047 (GRCm39) |
Y59C |
probably damaging |
Het |
| Or52e18 |
A |
G |
7: 104,609,001 (GRCm39) |
*313R |
probably null |
Het |
| Or7e173 |
T |
C |
9: 19,938,818 (GRCm39) |
M139V |
probably benign |
Het |
| Osbpl3 |
A |
T |
6: 50,329,762 (GRCm39) |
|
probably null |
Het |
| Phc3 |
T |
A |
3: 30,961,544 (GRCm39) |
M963L |
probably benign |
Het |
| Phf20 |
C |
T |
2: 156,109,234 (GRCm39) |
P194S |
probably benign |
Het |
| Pou1f1 |
C |
T |
16: 65,317,427 (GRCm39) |
|
probably benign |
Het |
| Pramel46 |
T |
A |
5: 95,418,133 (GRCm39) |
M288L |
probably benign |
Het |
| Prdm13 |
C |
G |
4: 21,679,659 (GRCm39) |
R277P |
unknown |
Het |
| Prelid1 |
A |
G |
13: 55,470,010 (GRCm39) |
K3R |
possibly damaging |
Het |
| Ptger3 |
C |
A |
3: 157,273,424 (GRCm39) |
T257K |
probably damaging |
Het |
| Pth1r |
T |
C |
9: 110,556,204 (GRCm39) |
H223R |
probably benign |
Het |
| Ptk2b |
C |
T |
14: 66,424,899 (GRCm39) |
E182K |
probably damaging |
Het |
| Ptprj |
T |
C |
2: 90,294,916 (GRCm39) |
T431A |
possibly damaging |
Het |
| Rbbp5 |
T |
A |
1: 132,417,464 (GRCm39) |
D119E |
probably benign |
Het |
| Rest |
GGGGGCCTGCCCCTCCCACGGGGCCTGCCCCTCCCACGGGGCCTGCCCCTCCCACGGAGCCTGCCCCTCCCACGGGGC |
GGGGGCCTGCCCCTCCCACGGGGCCTGCCCCTCCCACGGAGCCTGCCCCTCCCACGGGGC |
5: 77,429,651 (GRCm39) |
|
probably benign |
Het |
| Rinl |
T |
G |
7: 28,490,084 (GRCm39) |
L41R |
possibly damaging |
Het |
| Rrp12 |
A |
G |
19: 41,865,603 (GRCm39) |
V730A |
probably benign |
Het |
| Saraf |
G |
T |
8: 34,632,343 (GRCm39) |
V141L |
possibly damaging |
Het |
| Slc6a13 |
T |
C |
6: 121,302,042 (GRCm39) |
L208P |
probably damaging |
Het |
| Slc9a9 |
C |
A |
9: 94,595,000 (GRCm39) |
T170K |
probably damaging |
Het |
| Spata31f1e |
T |
C |
4: 42,793,380 (GRCm39) |
T251A |
probably benign |
Het |
| Stk33 |
T |
C |
7: 108,928,747 (GRCm39) |
N255S |
probably damaging |
Het |
| Tenm2 |
C |
T |
11: 35,930,722 (GRCm39) |
V1769M |
probably damaging |
Het |
| Themis |
C |
A |
10: 28,658,233 (GRCm39) |
T420N |
probably benign |
Het |
| Tmem116 |
T |
C |
5: 121,605,975 (GRCm39) |
V109A |
|
Het |
| Tnfaip2 |
T |
A |
12: 111,411,382 (GRCm39) |
L2Q |
probably damaging |
Het |
| Trub1 |
T |
C |
19: 57,452,859 (GRCm39) |
|
probably null |
Het |
| Ttn |
C |
T |
2: 76,679,260 (GRCm39) |
V10821I |
unknown |
Het |
| Ube2j1 |
C |
A |
4: 33,045,111 (GRCm39) |
A197D |
probably benign |
Het |
| Vmn2r101 |
T |
A |
17: 19,809,138 (GRCm39) |
I89N |
probably damaging |
Het |
| Wfikkn1 |
T |
C |
17: 26,097,145 (GRCm39) |
Y393C |
probably damaging |
Het |
| Zfp729b |
C |
A |
13: 67,741,942 (GRCm39) |
E108* |
probably null |
Het |
| Zfp976 |
A |
T |
7: 42,263,011 (GRCm39) |
C276* |
probably null |
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 |
|
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 |
|
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'- CTGAAGTCATTGCTGTGGGC -3'
(R):5'- GTGCTCCAACTCTTAGCCAC -3'
Sequencing Primer
(F):5'- CTGTGGGCAGGGCAGATAG -3'
(R):5'- CCGATCTACCCCAGCAGTG -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation