Incidental Mutation 'R1025:Alyref'
ID 94906
Institutional Source Beutler Lab
Gene Symbol Alyref
Ensembl Gene ENSMUSG00000025134
Gene Name Aly/REF export factor
Synonyms Refbp1, REF1, Thoc4
MMRRC Submission 039127-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.952) question?
Stock # R1025 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 120485330-120489342 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to G at 120486758 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Leucine at position 168 (V168L)
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 damaging
Transcript: ENSMUST00000026125
AA Change: V168L

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000026125
Gene: ENSMUSG00000025134
AA Change: V168L

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 0.3971 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 94.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700067P10Rik A T 17: 48,401,030 (GRCm39) K105M probably damaging Het
3110009E18Rik C T 1: 120,099,192 (GRCm39) T95I probably damaging Het
Acte1 A G 7: 143,450,127 (GRCm39) Y291C probably damaging Het
Ap1g1 G A 8: 110,545,571 (GRCm39) A75T probably benign Het
Atp8a2 T C 14: 60,097,719 (GRCm39) K770E probably benign Het
Baz2b T C 2: 59,792,826 (GRCm39) N434S probably benign Het
Cebpzos A G 17: 79,225,817 (GRCm39) K11E probably damaging Het
Cers1 A T 8: 70,774,186 (GRCm39) I148F probably benign Het
Cpne4 A T 9: 104,871,057 (GRCm39) I300F possibly damaging Het
Fsip2 C A 2: 82,819,780 (GRCm39) S5171* probably null Het
Gabra2 T C 5: 71,130,938 (GRCm39) S297G probably damaging Het
Irak3 A T 10: 120,012,251 (GRCm39) I171N probably damaging Het
Lama1 A G 17: 68,059,893 (GRCm39) I661V probably benign Het
Macf1 T C 4: 123,367,609 (GRCm39) D2384G probably damaging Het
Or14a260 T C 7: 85,985,113 (GRCm39) M164V probably benign Het
Or6b2b T A 1: 92,419,445 (GRCm39) T11S probably benign Het
Pdcd6ip G A 9: 113,491,354 (GRCm39) L630F probably damaging Het
Pkn2 A G 3: 142,527,326 (GRCm39) probably null Het
Slc26a4 T G 12: 31,578,736 (GRCm39) D639A probably damaging Het
Svep1 C T 4: 58,087,817 (GRCm39) C1754Y possibly damaging Het
Trpa1 C A 1: 14,974,407 (GRCm39) M258I probably benign Het
Vmn1r17 A T 6: 57,338,240 (GRCm39) S42T probably benign Het
Vmn2r57 A G 7: 41,077,228 (GRCm39) F313L probably benign Het
Zfp811 A G 17: 33,017,618 (GRCm39) Y140H probably benign 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
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
R6450:Alyref UTSW 11 120,486,872 (GRCm39) missense probably benign 0.00
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'- GGTTCACAAGAGGTTGGTCCAGATG -3'
(R):5'- TGGACAGTAACCCAGTTGTTCGC -3'

Sequencing Primer
(F):5'- CCAGATGTGTGGGGCAG -3'
(R):5'- GGCTGTCAGTCAAGTACCTCTAAAG -3'
Posted On 2014-01-05