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) question?
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

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 benign
Transcript: ENSMUST00000073116
SMART Domains Protein: ENSMUSP00000072859
Gene: ENSMUSG00000025225

DomainStartEndE-ValueType
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

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: ENSMUST00000111881
SMART Domains Protein: ENSMUSP00000107512
Gene: ENSMUSG00000025225

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
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
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