Incidental Mutation 'R6524:Phax'
ID 521643
Institutional Source Beutler Lab
Gene Symbol Phax
Ensembl Gene ENSMUSG00000008301
Gene Name phosphorylated adaptor for RNA export
Synonyms Rnuxa, Phax, 4933427L19Rik, D18Ertd65e, p55, 2810055C14Rik, phosphorylation regulated
MMRRC Submission 044650-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.950) question?
Stock # R6524 (G1)
Quality Score 225.009
Status Validated
Chromosome 18
Chromosomal Location 56695641-56720784 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 56720074 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 338 (D338E)
Ref Sequence ENSEMBL: ENSMUSP00000008445 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000008445] [ENSMUST00000035640] [ENSMUST00000127591] [ENSMUST00000130163]
AlphaFold Q9JJT9
Predicted Effect probably damaging
Transcript: ENSMUST00000008445
AA Change: D338E

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000008445
Gene: ENSMUSG00000008301
AA Change: D338E

DomainStartEndE-ValueType
low complexity region 55 69 N/A INTRINSIC
low complexity region 81 91 N/A INTRINSIC
low complexity region 145 153 N/A INTRINSIC
Pfam:RNA_GG_bind 221 304 2.4e-37 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000035640
SMART Domains Protein: ENSMUSP00000038152
Gene: ENSMUSG00000032900

DomainStartEndE-ValueType
Pfam:DUF4513 3 140 9.3e-75 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000127591
SMART Domains Protein: ENSMUSP00000117284
Gene: ENSMUSG00000032900

DomainStartEndE-ValueType
Pfam:DUF4513 1 72 2.7e-29 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000130163
AA Change: D316E

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000122948
Gene: ENSMUSG00000008301
AA Change: D316E

DomainStartEndE-ValueType
low complexity region 33 47 N/A INTRINSIC
low complexity region 59 69 N/A INTRINSIC
low complexity region 123 131 N/A INTRINSIC
Pfam:RNA_GG_bind 199 282 2.7e-37 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000147775
SMART Domains Protein: ENSMUSP00000115084
Gene: ENSMUSG00000032900

DomainStartEndE-ValueType
Pfam:DUF4513 1 82 8.6e-26 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000153248
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 94.3%
Validation Efficiency 100% (44/44)
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933405L10Rik A G 8: 106,435,641 (GRCm39) R100G possibly damaging Het
Acin1 G T 14: 54,882,740 (GRCm39) D237E probably damaging Het
Ankfy1 G A 11: 72,621,308 (GRCm39) R198Q possibly damaging Het
C3 A T 17: 57,524,264 (GRCm39) probably null Het
Dnaaf2 A T 12: 69,237,159 (GRCm39) C650S probably benign Het
Dsg2 T G 18: 20,716,093 (GRCm39) F315V probably damaging Het
Dyrk1a C T 16: 94,485,979 (GRCm39) S404L probably benign Het
Eefsec T C 6: 88,274,902 (GRCm39) probably null Het
Esco1 T G 18: 10,582,188 (GRCm39) probably null Het
Fam83a T C 15: 57,858,736 (GRCm39) probably null Het
Fat3 A T 9: 15,903,552 (GRCm39) V2981E probably damaging Het
H1f11-ps G A 19: 47,158,999 (GRCm39) T192M unknown Het
Heatr5b A G 17: 79,121,535 (GRCm39) L730P possibly damaging Het
Hgsnat A G 8: 26,435,260 (GRCm39) S625P probably damaging Het
Itpr1 C T 6: 108,340,644 (GRCm39) T84I probably damaging Het
Itpr2 T C 6: 146,246,709 (GRCm39) N1070S probably benign Het
Itsn1 T C 16: 91,708,883 (GRCm39) F276L probably damaging Het
Krt84 A G 15: 101,441,187 (GRCm39) S2P unknown Het
Lbhd2 G A 12: 111,376,724 (GRCm39) R57H probably damaging Het
Lcmt2 T C 2: 120,969,412 (GRCm39) E337G possibly damaging Het
Lrp1b T C 2: 40,741,816 (GRCm39) E3037G possibly damaging Het
Lrp2 T C 2: 69,266,983 (GRCm39) E4308G possibly damaging Het
Med13 A G 11: 86,192,293 (GRCm39) I824T probably damaging Het
Meiob G A 17: 25,051,491 (GRCm39) V291I probably benign Het
Mtcl1 A T 17: 66,655,280 (GRCm39) D1343E probably benign Het
Mybl2 C A 2: 162,916,450 (GRCm39) P367Q possibly damaging Het
Nav3 T C 10: 109,555,891 (GRCm39) N1680S probably damaging Het
Nif3l1 T C 1: 58,496,999 (GRCm39) V308A probably benign Het
Or5h23 C T 16: 58,906,640 (GRCm39) V69M possibly damaging Het
Pclo G A 5: 14,768,883 (GRCm39) R4366H unknown Het
Pnpla6 T A 8: 3,584,519 (GRCm39) probably null Het
Rint1 A T 5: 24,020,737 (GRCm39) M529L probably benign Het
Scand1 C T 2: 156,154,169 (GRCm39) probably benign Het
Six3 C T 17: 85,929,398 (GRCm39) T244I probably damaging Het
Slc4a4 T C 5: 89,380,623 (GRCm39) S1034P probably benign Het
Ssu72 T G 4: 155,799,997 (GRCm39) N53K probably null Het
Timm44 T C 8: 4,317,988 (GRCm39) D140G possibly damaging Het
Tspan8 T C 10: 115,679,984 (GRCm39) F200L probably benign Het
Tyw5 A T 1: 57,427,890 (GRCm39) V234D possibly damaging Het
Ubxn10 T A 4: 138,448,194 (GRCm39) R161* probably null Het
Vmn2r23 T A 6: 123,690,384 (GRCm39) L420Q probably damaging Het
Wdr1 A T 5: 38,687,406 (GRCm39) D208E probably benign Het
Yif1a A G 19: 5,142,204 (GRCm39) Y230C probably damaging Het
Other mutations in Phax
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02622:Phax APN 18 56,717,372 (GRCm39) nonsense probably null
IGL03179:Phax APN 18 56,713,364 (GRCm39) missense probably damaging 1.00
R0103:Phax UTSW 18 56,695,785 (GRCm39) missense probably benign 0.16
R1869:Phax UTSW 18 56,706,176 (GRCm39) missense probably benign 0.00
R2507:Phax UTSW 18 56,719,956 (GRCm39) missense probably damaging 0.96
R2974:Phax UTSW 18 56,706,134 (GRCm39) missense probably benign 0.09
R4079:Phax UTSW 18 56,709,051 (GRCm39) missense possibly damaging 0.92
R4945:Phax UTSW 18 56,709,063 (GRCm39) missense probably damaging 0.99
R5526:Phax UTSW 18 56,717,382 (GRCm39) missense probably damaging 1.00
R5988:Phax UTSW 18 56,708,564 (GRCm39) missense probably benign 0.03
R5990:Phax UTSW 18 56,708,675 (GRCm39) missense probably benign
R6341:Phax UTSW 18 56,706,173 (GRCm39) missense possibly damaging 0.85
R7521:Phax UTSW 18 56,708,990 (GRCm39) nonsense probably null
R8219:Phax UTSW 18 56,708,754 (GRCm39) missense probably damaging 1.00
Z1176:Phax UTSW 18 56,720,024 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CAGAGTTGGCTCAGTGGTAAG -3'
(R):5'- GGTTTATTCTTCAAAATGTCCCCAGTG -3'

Sequencing Primer
(F):5'- TGACTGGACTGTAAAGATTCCTAGG -3'
(R):5'- TGTGCTCAGAAGATGTCCAAGTCC -3'
Posted On 2018-06-06