Incidental Mutation 'IGL02210:Alyref'
ID 284661
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Alyref
Ensembl Gene ENSMUSG00000025134
Gene Name Aly/REF export factor
Synonyms REF1, Thoc4, Refbp1
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.955) question?
Stock # IGL02210
Quality Score
Status
Chromosome 11
Chromosomal Location 120592121-120598365 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to C at 120597673 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Serine to Alanine at position 110 (S110A)
Ref Sequence ENSEMBL: ENSMUSP00000026125 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026125] [ENSMUST00000026128] [ENSMUST00000093140]
AlphaFold O08583
PDB Structure SOLUTION STRUCTURE OF THE NUCLEAR FACTOR ALY RBD DOMAIN [SOLUTION NMR]
Predicted Effect possibly damaging
Transcript: ENSMUST00000026125
AA Change: S110A

PolyPhen 2 Score 0.783 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000026125
Gene: ENSMUSG00000025134
AA Change: S110A

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
Abcc9 A G 6: 142,687,371 F215S probably damaging Het
Acvr2a A T 2: 48,898,526 H422L probably damaging Het
Adcy6 T C 15: 98,594,971 Y908C possibly damaging Het
Ankrd1 T C 19: 36,118,314 D86G probably damaging Het
Anpep T A 7: 79,826,904 Y29F probably benign Het
Appl1 T C 14: 26,925,952 probably benign Het
Arrdc5 T C 17: 56,300,026 D73G probably damaging Het
Atp12a T A 14: 56,371,744 Y142* probably null Het
Clec4a3 T A 6: 122,954,108 I52N probably damaging Het
Cmya5 G A 13: 93,092,734 P1949S probably benign Het
Crybb2 T A 5: 113,058,387 Q194L probably damaging Het
Dmxl2 A C 9: 54,404,049 L1796R probably damaging Het
Ecm1 A G 3: 95,735,977 F337S probably damaging Het
F5 T C 1: 164,190,141 S596P probably benign Het
Fat4 A G 3: 38,891,853 T1632A probably benign Het
Gm5070 T G 3: 95,410,625 noncoding transcript Het
Hps5 T C 7: 46,786,570 Y184C probably benign Het
Letmd1 T C 15: 100,469,247 probably null Het
Lipo5 A T 19: 33,467,877 N97K unknown Het
Mis18bp1 A T 12: 65,136,831 Y922* probably null Het
Mob3c C A 4: 115,833,755 H181N probably damaging Het
Muc4 A T 16: 32,752,254 T711S probably benign Het
Nav3 T C 10: 109,766,990 T1233A probably benign Het
Olfr1120 T A 2: 87,358,003 D186E probably damaging Het
Olfr361 G T 2: 37,085,619 T43N possibly damaging Het
Pcnt T C 10: 76,389,219 E1817G possibly damaging Het
Pdzd3 T G 9: 44,248,317 T461P probably benign Het
Phc3 A G 3: 30,936,709 V420A probably damaging Het
Plekhn1 A T 4: 156,223,649 C316S probably damaging Het
Ppp1cb T A 5: 32,483,474 probably benign Het
Slc29a4 T C 5: 142,718,779 Y359H probably damaging Het
Sspo T C 6: 48,500,492 I4982T probably damaging Het
Sstr4 T A 2: 148,396,309 L280Q probably damaging Het
Stap1 G A 5: 86,078,061 probably null Het
Szt2 A G 4: 118,389,823 V865A possibly damaging Het
Tmem246 A G 4: 49,586,686 Y161H probably benign Het
Tnr T A 1: 159,852,101 V215D probably benign Het
Trpm1 T C 7: 64,210,865 L288P probably damaging Het
Ttll5 T A 12: 85,912,545 probably benign Het
Usp8 T C 2: 126,718,056 probably benign Het
Uxs1 T C 1: 43,750,286 Y403C possibly damaging Het
Wnk2 T C 13: 49,090,869 E497G probably damaging Het
Xdh T C 17: 73,943,895 K21E probably benign Het
Other mutations in Alyref
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01482:Alyref APN 11 120595936 missense possibly damaging 0.87
IGL02372:Alyref APN 11 120594875 unclassified probably benign
IGL02424:Alyref APN 11 120595307 missense probably benign 0.07
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 splice site probably null
R5116:Alyref UTSW 11 120597728 missense probably benign 0.06
R6450:Alyref UTSW 11 120596046 missense probably benign 0.00
R8156:Alyref UTSW 11 120598248 missense probably benign
R8192:Alyref UTSW 11 120597696 missense probably benign 0.00
R8821:Alyref UTSW 11 120598197 frame shift probably null
R9172:Alyref UTSW 11 120596016 missense probably benign 0.10
Posted On 2015-04-16