Incidental Mutation 'R7024:Psd4'
ID 545821
Institutional Source Beutler Lab
Gene Symbol Psd4
Ensembl Gene ENSMUSG00000026979
Gene Name pleckstrin and Sec7 domain containing 4
Synonyms SEC7 homolog, EFA6B
MMRRC Submission 045125-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7024 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 24257571-24299882 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 24284555 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Glycine at position 140 (C140G)
Ref Sequence ENSEMBL: ENSMUSP00000132395 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056641] [ENSMUST00000102942] [ENSMUST00000127242] [ENSMUST00000131930] [ENSMUST00000140547] [ENSMUST00000142522] [ENSMUST00000166388]
AlphaFold Q8BLR5
Predicted Effect possibly damaging
Transcript: ENSMUST00000056641
AA Change: C140G

PolyPhen 2 Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000062415
Gene: ENSMUSG00000026979
AA Change: C140G

DomainStartEndE-ValueType
low complexity region 156 176 N/A INTRINSIC
low complexity region 350 361 N/A INTRINSIC
low complexity region 420 438 N/A INTRINSIC
low complexity region 458 474 N/A INTRINSIC
Sec7 497 688 9.39e-47 SMART
PH 727 843 1.1e-10 SMART
low complexity region 883 893 N/A INTRINSIC
low complexity region 897 920 N/A INTRINSIC
low complexity region 961 973 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000102942
AA Change: C140G

PolyPhen 2 Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000100006
Gene: ENSMUSG00000026979
AA Change: C140G

DomainStartEndE-ValueType
low complexity region 156 176 N/A INTRINSIC
low complexity region 350 361 N/A INTRINSIC
low complexity region 420 438 N/A INTRINSIC
low complexity region 458 474 N/A INTRINSIC
Sec7 497 688 9.39e-47 SMART
PH 727 843 1.1e-10 SMART
low complexity region 883 893 N/A INTRINSIC
low complexity region 897 920 N/A INTRINSIC
low complexity region 961 973 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000127242
AA Change: C140G

PolyPhen 2 Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)
Predicted Effect probably benign
Transcript: ENSMUST00000131930
Predicted Effect probably benign
Transcript: ENSMUST00000140547
Predicted Effect probably benign
Transcript: ENSMUST00000142522
Predicted Effect possibly damaging
Transcript: ENSMUST00000166388
AA Change: C140G

PolyPhen 2 Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000132395
Gene: ENSMUSG00000026979
AA Change: C140G

DomainStartEndE-ValueType
low complexity region 156 176 N/A INTRINSIC
low complexity region 350 361 N/A INTRINSIC
low complexity region 420 438 N/A INTRINSIC
low complexity region 458 474 N/A INTRINSIC
Sec7 497 688 9.39e-47 SMART
PH 727 843 1.1e-10 SMART
low complexity region 883 893 N/A INTRINSIC
low complexity region 897 920 N/A INTRINSIC
low complexity region 961 973 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 97% (61/63)
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310079G19Rik A G 16: 88,424,108 (GRCm39) S128P probably damaging Het
Abcc1 G C 16: 14,231,247 (GRCm39) probably null Het
Atg2a G A 19: 6,300,249 (GRCm39) G686S possibly damaging Het
Atrnl1 A T 19: 57,626,882 (GRCm39) probably null Het
Brd4 T C 17: 32,440,884 (GRCm39) probably benign Het
Camsap3 A G 8: 3,658,242 (GRCm39) E688G probably damaging Het
Cc2d2a T A 5: 43,891,271 (GRCm39) S1402R probably benign Het
Ccnb1 A G 13: 100,922,888 (GRCm39) probably null Het
Cdc42bpb G A 12: 111,292,519 (GRCm39) H339Y probably damaging Het
Ciart T A 3: 95,786,392 (GRCm39) T94S probably benign Het
Col6a5 T A 9: 105,789,674 (GRCm39) K1540* probably null Het
Csmd3 A T 15: 47,574,387 (GRCm39) V1969E probably damaging Het
Dgka T G 10: 128,556,356 (GRCm39) N710T probably damaging Het
Dock6 A G 9: 21,731,666 (GRCm39) V1212A probably benign Het
Dync2i2 A G 2: 29,928,278 (GRCm39) V116A possibly damaging Het
En1 C T 1: 120,531,051 (GRCm39) P97L unknown Het
Esd T A 14: 74,982,102 (GRCm39) F172L probably damaging Het
Gfer C A 17: 24,914,942 (GRCm39) D34Y probably damaging Het
Gm2832 G A 14: 41,001,696 (GRCm39) M68I Het
Hmgcr A G 13: 96,795,418 (GRCm39) S384P probably benign Het
Hsp90aa1 T C 12: 110,660,546 (GRCm39) T299A possibly damaging Het
Igsf10 A G 3: 59,239,122 (GRCm39) M353T probably benign Het
Ino80b T C 6: 83,099,306 (GRCm39) T211A probably benign Het
Lamb2 C A 9: 108,366,687 (GRCm39) T1607K probably benign Het
Lhfpl5 A G 17: 28,801,957 (GRCm39) E218G probably benign Het
Lpo C A 11: 87,707,269 (GRCm39) C248F probably damaging Het
Lrrc3 C T 10: 77,736,825 (GRCm39) D204N probably damaging Het
Mavs C A 2: 131,085,051 (GRCm39) L160I probably benign Het
Morn4 C T 19: 42,066,483 (GRCm39) D35N possibly damaging Het
Mroh8 G A 2: 157,063,183 (GRCm39) H813Y probably benign Het
Myf6 T C 10: 107,330,390 (GRCm39) E59G probably damaging Het
Nhsl3 T A 4: 129,119,201 (GRCm39) E173V probably null Het
Nlrp10 T A 7: 108,524,405 (GRCm39) E358D possibly damaging Het
Odad2 A C 18: 7,211,593 (GRCm39) D760E probably benign Het
Optn T C 2: 5,057,648 (GRCm39) probably null Het
Or12e8 A G 2: 87,188,066 (GRCm39) T93A probably benign Het
Or13a19 T C 7: 139,902,759 (GRCm39) I49T possibly damaging Het
Or1e1d-ps1 T A 11: 73,819,332 (GRCm39) L94* probably null Het
Or1o1 T C 17: 37,717,095 (GRCm39) F219L probably benign Het
Or5g9 T A 2: 85,551,952 (GRCm39) F68I probably damaging Het
Or7g28 T C 9: 19,272,579 (GRCm39) E24G possibly damaging Het
Plxna4 T A 6: 32,169,204 (GRCm39) H1331L probably damaging Het
Poli A T 18: 70,649,920 (GRCm39) M357K possibly damaging Het
Rab3gap1 T A 1: 127,818,835 (GRCm39) probably null Het
Rasa3 T C 8: 13,681,826 (GRCm39) N41S probably benign Het
Rps6kc1 A G 1: 190,532,407 (GRCm39) S532P probably benign Het
S100a3 T A 3: 90,509,747 (GRCm39) probably null Het
Sfrp5 T C 19: 42,190,204 (GRCm39) K83E possibly damaging Het
Slco1a4 T C 6: 141,780,434 (GRCm39) I119V probably benign Het
Snx15 T A 19: 6,170,626 (GRCm39) Q271L probably damaging Het
Sorcs2 C A 5: 36,178,605 (GRCm39) S1128I probably damaging Het
Tbc1d7 A T 13: 43,308,211 (GRCm39) F85I probably damaging Het
Thoc7 A G 14: 13,953,528 (GRCm38) Y46H probably damaging Het
Top1mt T A 15: 75,539,297 (GRCm39) Y366F probably damaging Het
Trpv2 C A 11: 62,475,287 (GRCm39) S233R probably benign Het
Vav1 C A 17: 57,586,268 (GRCm39) T24N probably damaging Het
Vmn2r111 T C 17: 22,778,032 (GRCm39) N549S possibly damaging Het
Wdfy4 G T 14: 32,686,583 (GRCm39) probably null Het
Wdr3 A G 3: 100,062,313 (GRCm39) S201P probably benign Het
Wfs1 C T 5: 37,124,294 (GRCm39) D866N probably damaging Het
Wnk1 A T 6: 119,942,687 (GRCm39) probably benign Het
Xpot G T 10: 121,438,304 (GRCm39) Q762K probably benign Het
Zfp287 A T 11: 62,605,764 (GRCm39) L370H possibly damaging Het
Other mutations in Psd4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00850:Psd4 APN 2 24,284,298 (GRCm39) missense probably benign 0.25
IGL01302:Psd4 APN 2 24,286,799 (GRCm39) critical splice donor site probably null
IGL01446:Psd4 APN 2 24,295,407 (GRCm39) missense probably damaging 1.00
IGL01577:Psd4 APN 2 24,293,234 (GRCm39) missense probably damaging 0.96
IGL01823:Psd4 APN 2 24,284,444 (GRCm39) missense probably benign 0.27
IGL02103:Psd4 APN 2 24,290,540 (GRCm39) nonsense probably null
IGL02212:Psd4 APN 2 24,295,326 (GRCm39) nonsense probably null
IGL02240:Psd4 APN 2 24,286,389 (GRCm39) missense probably benign 0.00
IGL02261:Psd4 APN 2 24,291,756 (GRCm39) missense probably damaging 1.00
IGL02345:Psd4 APN 2 24,291,835 (GRCm39) critical splice donor site probably null
IGL03272:Psd4 APN 2 24,295,692 (GRCm39) splice site probably benign
bitcoin UTSW 2 24,291,569 (GRCm39) missense probably damaging 1.00
crypto UTSW 2 24,287,259 (GRCm39) missense probably benign
Ethereum UTSW 2 24,296,996 (GRCm39) missense probably damaging 1.00
underworld UTSW 2 24,295,363 (GRCm39) missense probably damaging 1.00
PIT4469001:Psd4 UTSW 2 24,284,306 (GRCm39) missense probably benign 0.08
R0131:Psd4 UTSW 2 24,295,363 (GRCm39) missense probably damaging 1.00
R0131:Psd4 UTSW 2 24,295,363 (GRCm39) missense probably damaging 1.00
R0132:Psd4 UTSW 2 24,295,363 (GRCm39) missense probably damaging 1.00
R0278:Psd4 UTSW 2 24,284,450 (GRCm39) missense probably damaging 1.00
R1303:Psd4 UTSW 2 24,285,030 (GRCm39) missense probably benign 0.00
R1551:Psd4 UTSW 2 24,293,292 (GRCm39) missense probably benign 0.02
R1715:Psd4 UTSW 2 24,295,344 (GRCm39) missense probably damaging 1.00
R1854:Psd4 UTSW 2 24,287,468 (GRCm39) missense probably benign 0.26
R1942:Psd4 UTSW 2 24,295,805 (GRCm39) missense probably damaging 1.00
R2392:Psd4 UTSW 2 24,284,679 (GRCm39) missense probably damaging 0.98
R2420:Psd4 UTSW 2 24,291,253 (GRCm39) missense probably damaging 1.00
R4509:Psd4 UTSW 2 24,286,347 (GRCm39) missense probably benign
R4512:Psd4 UTSW 2 24,292,901 (GRCm39) missense probably damaging 1.00
R4558:Psd4 UTSW 2 24,294,806 (GRCm39) missense probably damaging 1.00
R4995:Psd4 UTSW 2 24,287,259 (GRCm39) missense probably benign
R5120:Psd4 UTSW 2 24,295,450 (GRCm39) missense probably benign
R5314:Psd4 UTSW 2 24,290,528 (GRCm39) missense possibly damaging 0.89
R5563:Psd4 UTSW 2 24,284,897 (GRCm39) missense probably benign
R5638:Psd4 UTSW 2 24,287,427 (GRCm39) missense probably benign 0.14
R6191:Psd4 UTSW 2 24,284,499 (GRCm39) missense probably damaging 1.00
R6224:Psd4 UTSW 2 24,291,569 (GRCm39) missense probably damaging 1.00
R7046:Psd4 UTSW 2 24,284,985 (GRCm39) missense probably benign 0.05
R7209:Psd4 UTSW 2 24,287,357 (GRCm39) missense probably damaging 1.00
R7483:Psd4 UTSW 2 24,294,768 (GRCm39) missense possibly damaging 0.65
R7498:Psd4 UTSW 2 24,296,996 (GRCm39) missense probably damaging 1.00
R7571:Psd4 UTSW 2 24,297,023 (GRCm39) missense probably damaging 1.00
R7741:Psd4 UTSW 2 24,291,108 (GRCm39) critical splice donor site probably null
R7978:Psd4 UTSW 2 24,294,867 (GRCm39) missense probably damaging 1.00
R8133:Psd4 UTSW 2 24,286,701 (GRCm39) missense probably benign
R8254:Psd4 UTSW 2 24,293,223 (GRCm39) missense probably damaging 0.99
R8786:Psd4 UTSW 2 24,295,444 (GRCm39) missense probably benign 0.08
R8797:Psd4 UTSW 2 24,287,440 (GRCm39) missense probably benign 0.02
R9015:Psd4 UTSW 2 24,287,492 (GRCm39) missense
R9413:Psd4 UTSW 2 24,287,472 (GRCm39) missense probably benign 0.39
X0009:Psd4 UTSW 2 24,291,537 (GRCm39) missense probably damaging 1.00
X0064:Psd4 UTSW 2 24,294,750 (GRCm39) missense probably damaging 0.99
Z1177:Psd4 UTSW 2 24,284,943 (GRCm39) frame shift probably null
Z1177:Psd4 UTSW 2 24,284,924 (GRCm39) missense possibly damaging 0.95
Predicted Primers PCR Primer
(F):5'- AGCATCACTGAGGTCACTGGAG -3'
(R):5'- ATTCTCCTTCAGTGCTGGTG -3'

Sequencing Primer
(F):5'- TCACTGGAGGACAACAGCTCTTTG -3'
(R):5'- CTCTCCAGGAAGAGGGGATTATC -3'
Posted On 2019-05-13