Incidental Mutation 'IGL03179:Phax'
ID 412133
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Phax
Ensembl Gene ENSMUSG00000008301
Gene Name phosphorylated adaptor for RNA export
Synonyms Rnuxa, Phax, 4933427L19Rik, D18Ertd65e, p55, 2810055C14Rik, phosphorylation regulated
Accession Numbers
Essential gene? Probably essential (E-score: 0.950) question?
Stock # IGL03179
Quality Score
Status
Chromosome 18
Chromosomal Location 56695641-56720784 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 56713364 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 248 (F248L)
Gene Model predicted gene model for transcript(s): [ENSMUST00000008445] [ENSMUST00000130163]
AlphaFold Q9JJT9
Predicted Effect probably benign
Transcript: ENSMUST00000008445
AA Change: F266L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000008445
Gene: ENSMUSG00000008301
AA Change: F266L

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: ENSMUST00000130163
AA Change: F244L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000122948
Gene: ENSMUSG00000008301
AA Change: F244L

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 damaging
Transcript: ENSMUST00000132628
AA Change: F248L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000119047
Gene: ENSMUSG00000008301
AA Change: F248L

DomainStartEndE-ValueType
low complexity region 3 13 N/A INTRINSIC
low complexity region 38 52 N/A INTRINSIC
low complexity region 64 74 N/A INTRINSIC
low complexity region 128 136 N/A INTRINSIC
Pfam:RNA_GG_bind 204 251 3.1e-18 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap11 T A 14: 78,745,180 (GRCm39) H1736L probably benign Het
App A G 16: 84,879,735 (GRCm39) C133R probably damaging Het
Atxn7l2 G T 3: 108,110,963 (GRCm39) C524* probably null Het
Cckbr T C 7: 105,084,130 (GRCm39) V288A probably benign Het
Ccr1l1 T C 9: 123,777,787 (GRCm39) Y220C probably damaging Het
Cdc42se2 A T 11: 54,614,417 (GRCm39) F47I possibly damaging Het
Cep290 T A 10: 100,403,950 (GRCm39) I2317N possibly damaging Het
Chrnd T C 1: 87,123,502 (GRCm39) S347P probably damaging Het
Clcn5 T A X: 7,029,565 (GRCm39) probably null Het
D6Wsu163e A G 6: 126,927,074 (GRCm39) D187G probably damaging Het
Dnajc13 T A 9: 104,044,634 (GRCm39) I1852F probably benign Het
Ecpas C T 4: 58,832,777 (GRCm39) G861D probably damaging Het
Fcnb A G 2: 27,966,646 (GRCm39) S296P possibly damaging Het
Fut2 C T 7: 45,300,073 (GRCm39) R233K probably benign Het
Gm21985 G A 2: 112,188,900 (GRCm39) V1078I possibly damaging Het
Gpc3 A T X: 51,486,090 (GRCm39) probably benign Het
Krt10 A G 11: 99,280,044 (GRCm39) probably benign Het
Lrrk2 A G 15: 91,584,781 (GRCm39) E370G probably damaging Het
Myo5c A T 9: 75,163,148 (GRCm39) I326F possibly damaging Het
Neb A T 2: 52,066,653 (GRCm39) L5906Q probably damaging Het
Nrdc A T 4: 108,903,888 (GRCm39) probably benign Het
Nrip2 A G 6: 128,381,938 (GRCm39) N17S possibly damaging Het
Or51f2 T C 7: 102,527,279 (GRCm39) probably benign Het
Or6s1 T C 14: 51,308,467 (GRCm39) I128V probably benign Het
P2rx7 A G 5: 122,811,763 (GRCm39) Y358C possibly damaging Het
Pex10 A C 4: 155,152,354 (GRCm39) I61L probably benign Het
Phtf2 A T 5: 20,987,397 (GRCm39) D366E probably damaging Het
Pnpo A G 11: 96,830,085 (GRCm39) Y205H possibly damaging Het
Pparg T A 6: 115,416,833 (GRCm39) W9R probably damaging Het
Ppp4r3c2 G A X: 88,796,434 (GRCm39) G89S possibly damaging Het
Prex1 C T 2: 166,427,114 (GRCm39) S867N probably benign Het
Pyroxd2 T A 19: 42,736,001 (GRCm39) N59I possibly damaging Het
Rnf135 T A 11: 80,084,837 (GRCm39) S203R possibly damaging Het
Sall1 T A 8: 89,758,289 (GRCm39) N605I probably benign Het
Scara3 C T 14: 66,168,603 (GRCm39) R338H probably damaging Het
Slc25a14 T C X: 47,726,317 (GRCm39) S152P probably benign Het
Strip1 A T 3: 107,527,571 (GRCm39) F436I probably damaging Het
Tgfa T C 6: 86,248,403 (GRCm39) L135P probably benign Het
Tgif1 T C 17: 71,151,942 (GRCm39) Q170R possibly damaging Het
Tmc2 G A 2: 130,071,107 (GRCm39) E279K probably damaging Het
Tnks G T 8: 35,315,824 (GRCm39) N987K probably benign Het
Traf3ip3 T C 1: 192,876,676 (GRCm39) E209G probably damaging Het
Vmn2r73 T A 7: 85,519,468 (GRCm39) I497L probably benign Het
Wrn C A 8: 33,800,734 (GRCm39) probably null Het
Zcchc24 T C 14: 25,720,086 (GRCm39) I193V possibly damaging Het
Other mutations in Phax
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02622:Phax APN 18 56,717,372 (GRCm39) nonsense probably null
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
R6524:Phax UTSW 18 56,720,074 (GRCm39) missense probably damaging 0.99
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
Posted On 2016-08-02