Incidental Mutation 'R0278:Psd4'
ID 24442
Institutional Source Beutler Lab
Gene Symbol Psd4
Ensembl Gene ENSMUSG00000026979
Gene Name pleckstrin and Sec7 domain containing 4
Synonyms SEC7 homolog, EFA6B
MMRRC Submission 038500-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0278 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 24257571-24299882 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 24284450 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 105 (S105P)
Ref Sequence ENSEMBL: ENSMUSP00000132395 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056641] [ENSMUST00000102942] [ENSMUST00000127242] [ENSMUST00000131930] [ENSMUST00000140547] [ENSMUST00000166388] [ENSMUST00000142522]
AlphaFold Q8BLR5
Predicted Effect probably damaging
Transcript: ENSMUST00000056641
AA Change: S105P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000062415
Gene: ENSMUSG00000026979
AA Change: S105P

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 probably damaging
Transcript: ENSMUST00000102942
AA Change: S105P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000100006
Gene: ENSMUSG00000026979
AA Change: S105P

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: S105P

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
Predicted Effect probably benign
Transcript: ENSMUST00000131930
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133730
Predicted Effect probably benign
Transcript: ENSMUST00000140547
Predicted Effect probably damaging
Transcript: ENSMUST00000166388
AA Change: S105P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000132395
Gene: ENSMUSG00000026979
AA Change: S105P

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 probably benign
Transcript: ENSMUST00000142522
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.8%
  • 10x: 95.4%
  • 20x: 90.7%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T A 11: 9,328,215 (GRCm39) S3429R probably damaging Het
Abca3 A G 17: 24,600,894 (GRCm39) D436G probably benign Het
Acacb C A 5: 114,371,320 (GRCm39) Y1816* probably null Het
Acer3 T C 7: 97,910,804 (GRCm39) Y86C probably damaging Het
Adgre1 A G 17: 57,754,872 (GRCm39) I657V probably benign Het
Akap1 A G 11: 88,736,020 (GRCm39) V214A probably benign Het
Ankrd42 T C 7: 92,280,865 (GRCm39) R22G possibly damaging Het
Apc2 C T 10: 80,148,647 (GRCm39) P1234S possibly damaging Het
Atp13a4 A G 16: 29,273,652 (GRCm39) I441T probably damaging Het
Cenpu G A 8: 47,031,344 (GRCm39) A242T probably damaging Het
Col6a6 A T 9: 105,644,487 (GRCm39) V1267E possibly damaging Het
Crhr2 T C 6: 55,094,516 (GRCm39) T58A probably benign Het
Ddx6 T G 9: 44,542,722 (GRCm39) C385G probably damaging Het
Dnah7a A T 1: 53,543,305 (GRCm39) N2288K probably benign Het
Egfl8 A T 17: 34,833,342 (GRCm39) probably null Het
Elmo2 A T 2: 165,139,287 (GRCm39) I420N probably damaging Het
Elovl4 A G 9: 83,665,248 (GRCm39) F113L probably benign Het
Fancd2 T A 6: 113,525,409 (GRCm39) probably null Het
Fbxl13 A G 5: 21,728,908 (GRCm39) V456A probably benign Het
Fgfr2 A T 7: 129,863,592 (GRCm39) probably null Het
Fkbpl A T 17: 34,864,384 (GRCm39) R51* probably null Het
Fn3krp G A 11: 121,312,406 (GRCm39) V40M probably damaging Het
Fnip1 A G 11: 54,380,169 (GRCm39) probably null Het
Gm15446 A T 5: 110,091,281 (GRCm39) Q511L probably benign Het
Gm7334 A G 17: 51,006,289 (GRCm39) K192E probably damaging Het
H2-Q10 A T 17: 35,784,204 (GRCm39) T282S possibly damaging Het
Hspa9 A G 18: 35,073,963 (GRCm39) V482A possibly damaging Het
Ica1l A T 1: 60,053,155 (GRCm39) S128T probably benign Het
Il7r A T 15: 9,516,423 (GRCm39) I126K probably damaging Het
Kcnj8 T C 6: 142,516,074 (GRCm39) E11G probably benign Het
Klkb1 A C 8: 45,725,446 (GRCm39) F498V probably benign Het
Lama1 A G 17: 68,117,178 (GRCm39) E2491G probably null Het
Lhfpl2 T C 13: 94,310,943 (GRCm39) V71A probably benign Het
Lin9 T C 1: 180,493,488 (GRCm39) I198T probably damaging Het
Lrrc7 T A 3: 157,885,432 (GRCm39) M431L possibly damaging Het
Nmt2 A G 2: 3,326,424 (GRCm39) T519A probably benign Het
Or10w1 C A 19: 13,632,128 (GRCm39) L112I probably damaging Het
Or10w1 T A 19: 13,632,129 (GRCm39) L112H probably damaging Het
Or1d2 T C 11: 74,256,028 (GRCm39) F178L probably damaging Het
Or4a74 G T 2: 89,440,108 (GRCm39) L113M probably damaging Het
Or4a74 A T 2: 89,440,107 (GRCm39) L113Q probably damaging Het
Or5al7 A T 2: 85,992,923 (GRCm39) Y123* probably null Het
Or7h8 G T 9: 20,124,182 (GRCm39) C179F probably damaging Het
Parp4 A G 14: 56,844,980 (GRCm39) R624G probably damaging Het
Pex16 C T 2: 92,211,401 (GRCm39) P325S probably damaging Het
Pik3ca T C 3: 32,493,902 (GRCm39) M288T possibly damaging Het
Pla2g5 C T 4: 138,527,967 (GRCm39) D100N probably benign Het
Prss43 T A 9: 110,656,430 (GRCm39) M39K probably benign Het
Ptprz1 T A 6: 23,000,816 (GRCm39) S969T probably benign Het
Rad23b T A 4: 55,383,575 (GRCm39) probably null Het
Rif1 GCCACCA GCCA 2: 52,000,336 (GRCm39) probably benign Het
Rpl10l A G 12: 66,331,130 (GRCm39) M1T probably null Het
Sec16a A G 2: 26,318,328 (GRCm39) S1588P probably damaging Het
Sh3rf1 A T 8: 61,827,052 (GRCm39) H602L probably damaging Het
Sparcl1 A T 5: 104,236,263 (GRCm39) S497T probably benign Het
Spata13 A G 14: 60,929,537 (GRCm39) Y365C probably benign Het
Trim5 T C 7: 103,928,882 (GRCm39) N20D probably benign Het
Vmn1r201 G T 13: 22,659,194 (GRCm39) W136L probably damaging Het
Vmn2r112 A G 17: 22,821,987 (GRCm39) I222V probably benign Het
Vmn2r56 A T 7: 12,449,644 (GRCm39) V198D probably damaging Het
Wapl A G 14: 34,414,569 (GRCm39) D477G possibly damaging Het
Zfp202 C A 9: 40,119,778 (GRCm39) H194N probably benign Het
Zfp212 C T 6: 47,903,453 (GRCm39) R13W probably 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
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
R7024:Psd4 UTSW 2 24,284,555 (GRCm39) missense possibly damaging 0.76
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'- GAACATACCTGTCCGTTTGACCCC -3'
(R):5'- GAGGAGCCTGGAATTTTCTCCCTTG -3'

Sequencing Primer
(F):5'- CGTTTGACCCCCCAGAATC -3'
(R):5'- CACTGCTGTCATCTCCAGAG -3'
Posted On 2013-04-16