Incidental Mutation 'IGL02424:Alyref'
ID292834
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Alyref
Ensembl Gene ENSMUSG00000025134
Gene NameAly/REF export factor
SynonymsREF1, Thoc4, Refbp1
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.950) question?
Stock #IGL02424
Quality Score
Status
Chromosome11
Chromosomal Location120592121-120598365 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 120595307 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Aspartic acid at position 176 (N176D)
Ref Sequence ENSEMBL: ENSMUSP00000026125 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026125] [ENSMUST00000026128] [ENSMUST00000093140]
PDB Structure
SOLUTION STRUCTURE OF THE NUCLEAR FACTOR ALY RBD DOMAIN [SOLUTION NMR]
Predicted Effect probably benign
Transcript: ENSMUST00000026125
AA Change: N176D

PolyPhen 2 Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000026125
Gene: ENSMUSG00000025134
AA Change: N176D

DomainStartEndE-ValueType
low complexity region 16 53 N/A INTRINSIC
low complexity region 56 75 N/A INTRINSIC
low complexity region 94 105 N/A INTRINSIC
RRM 106 178 7.64e-20 SMART
FoP_duplication 187 255 1.33e-12 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000026128
SMART Domains Protein: ENSMUSP00000026128
Gene: ENSMUSG00000025135

DomainStartEndE-ValueType
RING 23 76 4.48e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000093140
SMART Domains Protein: ENSMUSP00000097714
Gene: ENSMUSG00000025135

DomainStartEndE-ValueType
RING 23 76 4.48e-1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148114
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155325
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156685
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930579F01Rik A G 3: 138,174,705 probably benign Het
A930011G23Rik A G 5: 99,229,377 S404P probably damaging Het
A930011G23Rik G A 5: 99,229,382 P402L probably damaging Het
Abl1 G A 2: 31,801,132 V888I probably benign Het
Adcy9 G T 16: 4,288,597 N884K probably damaging Het
Amtn T C 5: 88,381,597 probably benign Het
Baz1b T C 5: 135,217,979 Y761H probably damaging Het
Cckar T A 5: 53,706,428 T64S possibly damaging Het
Csmd1 A G 8: 16,092,326 F1521S probably benign Het
Cyp11b1 T C 15: 74,839,236 T198A probably benign Het
Def8 G T 8: 123,459,648 L399F possibly damaging Het
Epha7 A T 4: 28,948,790 probably benign Het
Ets1 T A 9: 32,754,293 Y181* probably null Het
Fas A T 19: 34,327,034 M232L probably damaging Het
Fkbp10 T A 11: 100,415,956 V37E probably damaging Het
Galnt3 A G 2: 66,095,788 probably null Het
Gdap1 T C 1: 17,161,178 V249A probably damaging Het
Gm5356 T A 8: 89,186,966 noncoding transcript Het
Gm7732 A G 17: 21,129,447 noncoding transcript Het
Gpr3 G T 4: 133,211,094 A89E probably damaging Het
Kat2a A G 11: 100,711,147 probably null Het
Kit T G 5: 75,639,106 D499E probably benign Het
Kmt2a C T 9: 44,824,635 probably benign Het
Med12l T C 3: 59,092,722 L666P probably benign Het
Mmp2 T G 8: 92,836,007 C291G probably damaging Het
Neb A G 2: 52,264,191 Y2303H probably damaging Het
Olfr305 C A 7: 86,363,480 V286L probably benign Het
Olfr412 T A 11: 74,365,473 M268K probably benign Het
Olfr97 T C 17: 37,232,372 probably benign Het
Pde1b T A 15: 103,528,219 probably benign Het
Prl7a2 A C 13: 27,667,970 C9G probably null Het
Rabl6 A G 2: 25,587,457 V327A probably benign Het
Robo2 T A 16: 73,973,301 I516F possibly damaging Het
Ror2 C T 13: 53,110,728 S764N probably damaging Het
Slc35a3 G A 3: 116,694,618 T140I possibly damaging Het
Slc38a7 A G 8: 95,841,572 V395A probably damaging Het
Stag3 T C 5: 138,291,366 L266P probably damaging Het
Stag3 T A 5: 138,281,985 C37* probably null Het
Strn A G 17: 78,684,351 S180P probably damaging Het
Sulf1 A G 1: 12,796,840 T83A probably benign Het
Vmn1r69 T C 7: 10,580,658 I49V probably benign Het
Vrk2 G A 11: 26,476,564 P387L probably benign Het
Xdh A T 17: 73,926,570 M183K probably benign Het
Other mutations in Alyref
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01482:Alyref APN 11 120595936 missense possibly damaging 0.87
IGL02210:Alyref APN 11 120597673 missense possibly damaging 0.78
IGL02372:Alyref APN 11 120594875 unclassified probably benign
IGL03102:Alyref APN 11 120597765 missense possibly damaging 0.65
R0234:Alyref UTSW 11 120598307 missense probably damaging 1.00
R1025:Alyref UTSW 11 120595932 missense probably damaging 0.97
R1026:Alyref UTSW 11 120595932 missense probably damaging 0.97
R1951:Alyref UTSW 11 120595932 missense probably damaging 0.97
R1952:Alyref UTSW 11 120595932 missense probably damaging 0.97
R4591:Alyref UTSW 11 120595973 missense probably benign 0.23
R4905:Alyref UTSW 11 120596053 unclassified probably null
R5116:Alyref UTSW 11 120597728 missense probably benign 0.06
R6450:Alyref UTSW 11 120596046 missense probably benign 0.00
Posted On2015-04-16