Incidental Mutation 'R6450:Alyref'
ID 519369
Institutional Source Beutler Lab
Gene Symbol Alyref
Ensembl Gene ENSMUSG00000025134
Gene Name Aly/REF export factor
Synonyms Refbp1, REF1, Thoc4
MMRRC Submission 044586-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.952) question?
Stock # R6450 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 120485330-120489342 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 120486872 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 130 (T130A)
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 probably benign
Transcript: ENSMUST00000026125
AA Change: T130A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000026125
Gene: ENSMUSG00000025134
AA Change: T130A

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
Meta Mutation Damage Score 0.0678 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.8%
  • 10x: 98.5%
  • 20x: 95.1%
Validation Efficiency 97% (68/70)
Allele List at MGI
Other mutations in this stock
Total: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 C G 7: 119,815,449 (GRCm39) N232K probably benign Het
Acaca T A 11: 84,171,294 (GRCm39) V5E probably damaging Het
Adam18 A T 8: 25,119,691 (GRCm39) D529E probably benign Het
Adgrb3 T C 1: 25,459,683 (GRCm39) T798A probably benign Het
Arhgap24 A G 5: 103,044,990 (GRCm39) S591G probably benign Het
Carmil1 C T 13: 24,220,547 (GRCm39) G655E probably damaging Het
Cdc42bpg T A 19: 6,364,518 (GRCm39) probably null Het
Clec12a T A 6: 129,330,366 (GRCm39) L48H probably damaging Het
Coq2 C A 5: 100,809,770 (GRCm39) probably benign Het
Crb2 C A 2: 37,683,838 (GRCm39) F1113L possibly damaging Het
Ctla4 A T 1: 60,951,872 (GRCm39) M134L probably benign Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Homo
Dync2i1 A T 12: 116,210,347 (GRCm39) Y314* probably null Het
Efhb A G 17: 53,759,632 (GRCm39) V290A possibly damaging Het
Epha8 T C 4: 136,659,210 (GRCm39) N843S probably damaging Het
Eva1a A T 6: 82,069,086 (GRCm39) I138F probably damaging Het
Fat2 T A 11: 55,180,136 (GRCm39) I1402F probably damaging Het
Fat3 A T 9: 15,910,466 (GRCm39) H1845Q possibly damaging Het
Gimap8 T A 6: 48,633,385 (GRCm39) F401L probably benign Het
Gpr162 C T 6: 124,838,152 (GRCm39) R166Q possibly damaging Het
H2ac8 A G 13: 23,755,119 (GRCm39) V55A probably damaging Het
Hdac4 G A 1: 91,912,433 (GRCm39) P348S possibly damaging Het
Hmcn2 T C 2: 31,251,812 (GRCm39) V849A probably benign Het
Inpp5b T A 4: 124,686,045 (GRCm39) N696K probably damaging Het
Kdm5d G T Y: 927,056 (GRCm39) R598L probably damaging Homo
Kidins220 T C 12: 25,107,190 (GRCm39) S1548P probably benign Het
Kif2b C A 11: 91,467,192 (GRCm39) V364L probably damaging Het
Kitl A G 10: 99,923,256 (GRCm39) M1V probably null Het
Klra9 G T 6: 130,155,995 (GRCm39) Y253* probably null Het
Map6 T C 7: 98,917,245 (GRCm39) I6T probably damaging Het
Mastl T C 2: 23,010,941 (GRCm39) T768A probably damaging Het
Mettl16 T C 11: 74,696,164 (GRCm39) V335A probably benign Het
Mpl T C 4: 118,305,897 (GRCm39) probably null Het
Myo5c C T 9: 75,193,860 (GRCm39) T1205I probably benign Het
Nav2 C A 7: 49,244,114 (GRCm39) L2114I probably damaging Het
Neb T A 2: 52,084,481 (GRCm39) K5330* probably null Het
Nfe2l1 C T 11: 96,718,161 (GRCm39) E125K possibly damaging Het
Onecut3 A G 10: 80,331,922 (GRCm39) K361E probably damaging Het
Or4f47 T A 2: 111,972,725 (GRCm39) L145* probably null Het
Osbpl6 A G 2: 76,395,174 (GRCm39) N370S possibly damaging Het
Otud4 T A 8: 80,399,626 (GRCm39) M780K probably benign Het
P2rx4 A G 5: 122,865,304 (GRCm39) T310A possibly damaging Het
Pcdha11 G T 18: 37,146,215 (GRCm39) D769Y probably damaging Het
Pcgf6 C T 19: 47,037,527 (GRCm39) R124H probably benign Het
Pibf1 T A 14: 99,374,646 (GRCm39) Y362N probably damaging Het
Ppm1g T C 5: 31,360,468 (GRCm39) E422G probably benign Het
Prmt8 T C 6: 127,709,606 (GRCm39) I85V possibly damaging Het
Prss27 A T 17: 24,263,988 (GRCm39) K225* probably null Het
Rai1 A T 11: 60,077,429 (GRCm39) T498S probably benign Het
Sbf2 C A 7: 110,062,070 (GRCm39) G23V probably damaging Het
Sdha C T 13: 74,482,412 (GRCm39) probably null Het
Sgo2a C T 1: 58,042,092 (GRCm39) Q140* probably null Het
Sh3rf3 A G 10: 58,819,966 (GRCm39) D259G probably damaging Het
Slc27a3 C A 3: 90,292,777 (GRCm39) D631Y probably damaging Het
Slc7a10 T C 7: 34,886,015 (GRCm39) S37P possibly damaging Het
Slco6d1 A G 1: 98,349,192 (GRCm39) T88A probably benign Het
Smad4 A T 18: 73,810,817 (GRCm39) S56T possibly damaging Het
Smarcd1 A G 15: 99,605,766 (GRCm39) I346V possibly damaging Het
Spast C T 17: 74,675,835 (GRCm39) P260S probably benign Het
Spata31f1e C A 4: 42,792,489 (GRCm39) G548W probably damaging Het
Sprr2i A T 3: 92,316,017 (GRCm39) probably benign Het
Sptbn5 A G 2: 119,877,616 (GRCm39) probably benign Het
Taar9 A T 10: 23,985,138 (GRCm39) Y99N probably damaging Het
Trappc10 A T 10: 78,045,284 (GRCm39) M468K possibly damaging Het
Trim66 T C 7: 109,059,945 (GRCm39) R814G probably benign Het
Tspan31 A G 10: 126,904,227 (GRCm39) C157R probably damaging Het
Vmn2r90 A G 17: 17,953,498 (GRCm39) D554G possibly damaging Het
Vmn2r91 A T 17: 18,305,527 (GRCm39) D70V probably damaging Het
Wdfy4 C T 14: 32,830,649 (GRCm39) G928R probably damaging Het
Zfp346 G T 13: 55,261,517 (GRCm39) K102N probably damaging Het
Zmym4 G A 4: 126,789,099 (GRCm39) P1002S probably damaging Het
Other mutations in Alyref
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01482:Alyref APN 11 120,486,762 (GRCm39) missense possibly damaging 0.87
IGL02210:Alyref APN 11 120,488,499 (GRCm39) missense possibly damaging 0.78
IGL02372:Alyref APN 11 120,485,701 (GRCm39) unclassified probably benign
IGL02424:Alyref APN 11 120,486,133 (GRCm39) missense probably benign 0.07
IGL03102:Alyref APN 11 120,488,591 (GRCm39) missense possibly damaging 0.65
R0234:Alyref UTSW 11 120,489,133 (GRCm39) missense probably damaging 1.00
R1025:Alyref UTSW 11 120,486,758 (GRCm39) missense probably damaging 0.97
R1026:Alyref UTSW 11 120,486,758 (GRCm39) missense probably damaging 0.97
R1951:Alyref UTSW 11 120,486,758 (GRCm39) missense probably damaging 0.97
R1952:Alyref UTSW 11 120,486,758 (GRCm39) missense probably damaging 0.97
R4591:Alyref UTSW 11 120,486,799 (GRCm39) missense probably benign 0.23
R4905:Alyref UTSW 11 120,486,879 (GRCm39) splice site probably null
R5116:Alyref UTSW 11 120,488,554 (GRCm39) missense probably benign 0.06
R8156:Alyref UTSW 11 120,489,074 (GRCm39) missense probably benign
R8192:Alyref UTSW 11 120,488,522 (GRCm39) missense probably benign 0.00
R8821:Alyref UTSW 11 120,489,023 (GRCm39) frame shift probably null
R9172:Alyref UTSW 11 120,486,842 (GRCm39) missense probably benign 0.10
R9468:Alyref UTSW 11 120,486,790 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ATTCCTACAGGGAGAGGTGC -3'
(R):5'- GTAACCCAGTTGTTCGCGAC -3'

Sequencing Primer
(F):5'- GGTGCCAGCCCCAAACTC -3'
(R):5'- CCCAGTTGTTCGCGACAGTTG -3'
Posted On 2018-05-24