Incidental Mutation 'IGL02644:Psd'
ID 301866
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) question?
Stock # IGL02644
Quality Score
Status
Chromosome 19
Chromosomal Location 46300526-46315595 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 46311834 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 282 (Y282C)
Ref Sequence ENSEMBL: ENSMUSP00000152942 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026256] [ENSMUST00000041391] [ENSMUST00000096029] [ENSMUST00000177667] [ENSMUST00000223903] [ENSMUST00000223917] [ENSMUST00000225323] [ENSMUST00000224447] [ENSMUST00000225781]
AlphaFold Q5DTT2
Predicted Effect probably benign
Transcript: ENSMUST00000026256
SMART Domains Protein: ENSMUSP00000026256
Gene: ENSMUSG00000025226

DomainStartEndE-ValueType
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 probably damaging
Transcript: ENSMUST00000041391
AA Change: Y282C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000039728
Gene: ENSMUSG00000037126
AA Change: Y282C

DomainStartEndE-ValueType
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: Y282C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000093729
Gene: ENSMUSG00000037126
AA Change: Y282C

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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 noncoding transcript
Transcript: ENSMUST00000225770
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224094
Predicted Effect probably damaging
Transcript: ENSMUST00000225323
AA Change: Y282C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224444
Predicted Effect probably benign
Transcript: ENSMUST00000224447
Predicted Effect probably benign
Transcript: ENSMUST00000225781
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225072
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrl4 A T 3: 151,198,007 (GRCm39) Y89F probably benign Het
Agl A G 3: 116,580,246 (GRCm39) Y406H probably damaging Het
Ankhd1 G A 18: 36,711,828 (GRCm39) probably null Het
Ankmy1 T C 1: 92,812,776 (GRCm39) D511G probably benign Het
Arid2 T C 15: 96,266,589 (GRCm39) Y546H probably damaging Het
Asap1 G T 15: 63,982,911 (GRCm39) P806T probably damaging Het
Aspa T A 11: 73,212,992 (GRCm39) T117S probably damaging Het
Atp2a3 C A 11: 72,866,165 (GRCm39) H262N probably benign Het
Bspry A T 4: 62,414,565 (GRCm39) H386L probably damaging Het
C1qc T C 4: 136,617,629 (GRCm39) T156A possibly damaging Het
Cfhr4 A G 1: 139,708,905 (GRCm39) M1T probably null Het
Copz2 A T 11: 96,744,257 (GRCm39) probably benign Het
Cybb A G X: 9,333,395 (GRCm39) V23A probably benign Het
D630003M21Rik T A 2: 158,058,730 (GRCm39) D390V possibly damaging Het
Dennd10 T A 19: 60,810,741 (GRCm39) S43T possibly damaging Het
Dpy19l2 G T 9: 24,569,888 (GRCm39) P355Q probably damaging Het
Gcn1 A T 5: 115,713,250 (GRCm39) Q71L probably benign Het
Gpd1l T C 9: 114,732,725 (GRCm39) probably null Het
Hydin A G 8: 111,265,100 (GRCm39) D2761G probably damaging Het
Ifi202b T A 1: 173,799,280 (GRCm39) H256L probably benign Het
Igkv8-24 T C 6: 70,193,872 (GRCm39) Y112C probably damaging Het
Lama3 G A 18: 12,658,910 (GRCm39) R2022Q probably benign Het
Mroh4 T A 15: 74,482,224 (GRCm39) R675S possibly damaging Het
Mtf1 T G 4: 124,714,028 (GRCm39) C146G probably damaging Het
Nubpl A G 12: 52,317,841 (GRCm39) D178G probably damaging Het
Or7e165 A C 9: 19,695,010 (GRCm39) I194L probably benign Het
Pam16 A G 16: 4,434,697 (GRCm39) S91P probably damaging Het
Pcdhac2 A G 18: 37,278,232 (GRCm39) E404G probably benign Het
Pde7a C A 3: 19,311,031 (GRCm39) probably benign Het
Perm1 G T 4: 156,303,043 (GRCm39) G529V probably damaging Het
Pik3c2a T C 7: 115,972,049 (GRCm39) T794A probably benign Het
Ppfibp1 A G 6: 146,923,938 (GRCm39) Y722C probably damaging Het
Ppm1m A T 9: 106,074,082 (GRCm39) I241N probably damaging Het
Rpl27 T A 11: 101,336,317 (GRCm39) probably benign Het
Scaf1 A G 7: 44,655,357 (GRCm39) probably benign Het
Sec14l2 A T 11: 4,053,380 (GRCm39) probably benign Het
Smchd1 T A 17: 71,667,016 (GRCm39) probably benign Het
Sptb A T 12: 76,652,391 (GRCm39) D1615E probably damaging Het
Stt3a A C 9: 36,663,649 (GRCm39) C198G possibly damaging Het
Tas2r144 T C 6: 42,192,787 (GRCm39) S176P possibly damaging Het
Tlr13 A G X: 105,200,503 (GRCm39) D80G probably benign Het
Tmco4 A G 4: 138,737,920 (GRCm39) probably benign Het
Tnpo2 T A 8: 85,771,109 (GRCm39) C132S possibly damaging Het
Tubgcp3 T C 8: 12,698,733 (GRCm39) D406G probably damaging Het
Vmn2r125 G A 4: 156,703,294 (GRCm39) R224Q probably benign Het
Zfp524 C A 7: 5,020,479 (GRCm39) D2E probably damaging Het
Other mutations in Psd
AlleleSourceChrCoordTypePredicted EffectPPH 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
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 2015-04-16