Incidental Mutation 'IGL02644:Psd'
ID301866
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Psd
Ensembl Gene ENSMUSG00000037126
Gene Namepleckstrin and Sec7 domain containing
SynonymsPsdl, Efa6a, Efa6, 1110007H17Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02644
Quality Score
Status
Chromosome19
Chromosomal Location46312087-46327156 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 46323395 bp
ZygosityHeterozygous
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] [ENSMUST00000224447] [ENSMUST00000225323] [ENSMUST00000225781]
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: ENSMUST00000224094
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224444
Predicted Effect probably benign
Transcript: ENSMUST00000224447
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225072
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: ENSMUST00000225770
Predicted Effect probably benign
Transcript: ENSMUST00000225781
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: 151,492,370 Y89F probably benign Het
Agl A G 3: 116,786,597 Y406H probably damaging Het
Ankhd1 G A 18: 36,578,775 probably null Het
Ankmy1 T C 1: 92,885,054 D511G probably benign Het
Arid2 T C 15: 96,368,708 Y546H probably damaging Het
Asap1 G T 15: 64,111,062 P806T probably damaging Het
Aspa T A 11: 73,322,166 T117S probably damaging Het
Atp2a3 C A 11: 72,975,339 H262N probably benign Het
Bspry A T 4: 62,496,328 H386L probably damaging Het
C1qc T C 4: 136,890,318 T156A possibly damaging Het
Copz2 A T 11: 96,853,431 probably benign Het
Cybb A G X: 9,467,156 V23A probably benign Het
D630003M21Rik T A 2: 158,216,810 D390V possibly damaging Het
Dpy19l2 G T 9: 24,658,592 P355Q probably damaging Het
Fam45a T A 19: 60,822,303 S43T possibly damaging Het
Gcn1l1 A T 5: 115,575,191 Q71L probably benign Het
Gm4788 A G 1: 139,781,167 M1T probably null Het
Gpd1l T C 9: 114,903,657 probably null Het
Hydin A G 8: 110,538,468 D2761G probably damaging Het
Ifi202b T A 1: 173,971,714 H256L probably benign Het
Igkv8-24 T C 6: 70,216,888 Y112C probably damaging Het
Lama3 G A 18: 12,525,853 R2022Q probably benign Het
Mroh4 T A 15: 74,610,375 R675S possibly damaging Het
Mtf1 T G 4: 124,820,235 C146G probably damaging Het
Nubpl A G 12: 52,271,058 D178G probably damaging Het
Olfr58 A C 9: 19,783,714 I194L probably benign Het
Pam16 A G 16: 4,616,833 S91P probably damaging Het
Pcdhac2 A G 18: 37,145,179 E404G probably benign Het
Pde7a C A 3: 19,256,867 probably benign Het
Perm1 G T 4: 156,218,586 G529V probably damaging Het
Pik3c2a T C 7: 116,372,814 T794A probably benign Het
Ppfibp1 A G 6: 147,022,440 Y722C probably damaging Het
Ppm1m A T 9: 106,196,883 I241N probably damaging Het
Rpl27 T A 11: 101,445,491 probably benign Het
Scaf1 A G 7: 45,005,933 probably benign Het
Sec14l2 A T 11: 4,103,380 probably benign Het
Smchd1 T A 17: 71,360,021 probably benign Het
Sptb A T 12: 76,605,617 D1615E probably damaging Het
Stt3a A C 9: 36,752,353 C198G possibly damaging Het
Tas2r144 T C 6: 42,215,853 S176P possibly damaging Het
Tlr13 A G X: 106,156,897 D80G probably benign Het
Tmco4 A G 4: 139,010,609 probably benign Het
Tnpo2 T A 8: 85,044,480 C132S possibly damaging Het
Tubgcp3 T C 8: 12,648,733 D406G probably damaging Het
Vmn2r125 G A 4: 156,350,999 R224Q probably benign Het
Zfp524 C A 7: 5,017,480 D2E probably damaging Het
Other mutations in Psd
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01291:Psd APN 19 46314747 missense possibly damaging 0.77
IGL01307:Psd APN 19 46314658 missense probably damaging 1.00
IGL02329:Psd APN 19 46319659 missense possibly damaging 0.66
IGL02423:Psd APN 19 46314504 missense possibly damaging 0.95
IGL02724:Psd APN 19 46319545 missense probably benign 0.04
IGL03117:Psd APN 19 46323122 unclassified probably benign
ANU05:Psd UTSW 19 46314747 missense possibly damaging 0.77
P0035:Psd UTSW 19 46320961 missense possibly damaging 0.56
R0054:Psd UTSW 19 46323342 missense probably damaging 1.00
R0054:Psd UTSW 19 46323342 missense probably damaging 1.00
R0403:Psd UTSW 19 46320972 unclassified probably benign
R0499:Psd UTSW 19 46322161 missense probably damaging 0.98
R0542:Psd UTSW 19 46314210 missense probably damaging 1.00
R0543:Psd UTSW 19 46319517 missense possibly damaging 0.62
R0894:Psd UTSW 19 46313441 missense probably damaging 1.00
R1449:Psd UTSW 19 46324811 missense probably damaging 0.99
R1586:Psd UTSW 19 46314798 missense probably damaging 0.98
R2096:Psd UTSW 19 46324649 unclassified probably null
R2504:Psd UTSW 19 46324913 missense possibly damaging 0.90
R2857:Psd UTSW 19 46324420 missense probably benign 0.00
R2863:Psd UTSW 19 46314762 missense probably damaging 0.97
R3897:Psd UTSW 19 46324585 missense possibly damaging 0.93
R3967:Psd UTSW 19 46324406 missense probably benign
R3970:Psd UTSW 19 46324406 missense probably benign
R4435:Psd UTSW 19 46314494 missense probably damaging 1.00
R4612:Psd UTSW 19 46313339 missense probably benign 0.15
R4940:Psd UTSW 19 46322417 missense probably damaging 1.00
R5055:Psd UTSW 19 46322468 missense probably benign 0.00
R5485:Psd UTSW 19 46316089 splice site probably null
R5768:Psd UTSW 19 46312739 missense possibly damaging 0.84
R5775:Psd UTSW 19 46314772 nonsense probably null
R6057:Psd UTSW 19 46323314 missense possibly damaging 0.77
R6349:Psd UTSW 19 46313387 unclassified probably null
R6496:Psd UTSW 19 46320314 missense probably damaging 1.00
R6614:Psd UTSW 19 46313412 missense probably benign 0.11
R6820:Psd UTSW 19 46320844 missense probably damaging 1.00
R6849:Psd UTSW 19 46317746 missense probably damaging 0.97
R6860:Psd UTSW 19 46322419 missense probably damaging 1.00
R7286:Psd UTSW 19 46314801 missense probably damaging 0.98
R7326:Psd UTSW 19 46324454 missense probably benign 0.01
R7351:Psd UTSW 19 46322430 missense probably benign 0.27
Posted On2015-04-16