Incidental Mutation 'IGL02835:AU018091'
ID 391970
Institutional Source Beutler Lab
Gene Symbol AU018091
Ensembl Gene ENSMUSG00000054753
Gene Name expressed sequence AU018091
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.202) question?
Stock # IGL02835 (G1)
Quality Score 131
Status Validated
Chromosome 7
Chromosomal Location 3204498-3219029 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 3218897 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 12 (D12G)
Ref Sequence ENSEMBL: ENSMUSP00000144796 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000171749] [ENSMUST00000203937]
AlphaFold E9PWS4
Predicted Effect unknown
Transcript: ENSMUST00000171749
AA Change: D20G
SMART Domains Protein: ENSMUSP00000126800
Gene: ENSMUSG00000054753
AA Change: D20G

DomainStartEndE-ValueType
Pfam:AA_permease_2 82 504 2.9e-47 PFAM
Pfam:AA_permease 86 481 3.5e-31 PFAM
transmembrane domain 541 563 N/A INTRINSIC
transmembrane domain 573 593 N/A INTRINSIC
Pfam:AA_permease_C 604 654 9.4e-28 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000203937
AA Change: D12G
SMART Domains Protein: ENSMUSP00000144796
Gene: ENSMUSG00000054753
AA Change: D12G

DomainStartEndE-ValueType
Pfam:AA_permease_2 73 177 7.9e-11 PFAM
Pfam:AA_permease 77 176 3.1e-8 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205185
Meta Mutation Damage Score 0.0869 question?
Coding Region Coverage
  • 1x: 0.0%
  • 3x: 0.0%
  • 10x: 0.0%
  • 20x: 0.0%
Validation Efficiency 98% (57/58)
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700011L22Rik T A 8: 79,937,284 (GRCm39) K208* probably null Het
A530016L24Rik A C 12: 112,461,420 (GRCm39) probably null Het
A830018L16Rik A C 1: 12,042,279 (GRCm39) D433A possibly damaging Het
Abca13 T A 11: 9,401,515 (GRCm39) I3985N probably damaging Het
Abhd17c C T 7: 83,800,731 (GRCm39) D108N probably benign Het
Adam29 C T 8: 56,326,173 (GRCm39) D94N probably damaging Het
Agr2 A G 12: 36,045,903 (GRCm39) D50G probably benign Het
Angptl1 A G 1: 156,686,090 (GRCm39) D392G probably benign Het
Apob A G 12: 8,065,097 (GRCm39) N3989S possibly damaging Het
Cyfip2 A T 11: 46,140,598 (GRCm39) S742T probably benign Het
Dlc1 C T 8: 37,051,055 (GRCm39) S892N probably damaging Het
Dsg1b A G 18: 20,525,071 (GRCm39) N169S possibly damaging Het
Egfem1 T C 3: 29,711,390 (GRCm39) L323P probably damaging Het
Emilin3 G A 2: 160,750,649 (GRCm39) Q320* probably null Het
Fjx1 G A 2: 102,281,092 (GRCm39) A281V possibly damaging Het
Fmn2 T A 1: 174,409,625 (GRCm39) D619E unknown Het
Gm4795 A C 10: 44,882,254 (GRCm39) noncoding transcript Het
Gm5117 T C 8: 32,227,198 (GRCm39) noncoding transcript Het
Gm5250 T C 1: 13,132,418 (GRCm39) noncoding transcript Het
Gtdc1 A T 2: 44,646,324 (GRCm39) Y101* probably null Het
Herc6 T C 6: 57,623,146 (GRCm39) I583T possibly damaging Het
Hyal4 G A 6: 24,765,714 (GRCm39) R356H probably benign Het
Il22ra2 C A 10: 19,502,424 (GRCm39) T81K probably benign Het
Iqcm T A 8: 76,281,511 (GRCm39) probably benign Het
Izumo4 G A 10: 80,540,959 (GRCm39) V220I probably benign Het
Kif16b A T 2: 142,554,133 (GRCm39) D899E probably benign Het
Lrp2 A T 2: 69,335,648 (GRCm39) N1358K probably damaging Het
Lrrk2 A G 15: 91,698,863 (GRCm39) probably null Het
Lyst C T 13: 13,835,685 (GRCm39) T1789M possibly damaging Het
Map4k4 A G 1: 40,049,760 (GRCm39) T732A probably damaging Het
Mdh1b A T 1: 63,757,816 (GRCm39) I305N probably damaging Het
Mettl13 A G 1: 162,373,585 (GRCm39) I222T probably damaging Het
Mtcl2 G A 2: 156,883,854 (GRCm39) T363I possibly damaging Het
Muc4 T C 16: 32,584,319 (GRCm39) F2583L probably benign Het
Nbea C T 3: 55,625,290 (GRCm39) R2267Q possibly damaging Het
Ndfip1 T C 18: 38,589,144 (GRCm39) Y178H probably damaging Het
Nin A T 12: 70,103,512 (GRCm39) F243I probably damaging Het
Nlrp10 A T 7: 108,523,869 (GRCm39) I537K possibly damaging Het
Nup155 T C 15: 8,172,614 (GRCm39) Y867H probably damaging Het
Pakap C G 4: 57,883,044 (GRCm39) P837A probably damaging Het
Pik3r4 A C 9: 105,549,905 (GRCm39) I999L probably benign Het
Pitpnm3 G A 11: 71,952,292 (GRCm39) probably benign Het
Pkd1l2 G A 8: 117,792,484 (GRCm39) T436I probably benign Het
Polg2 A T 11: 106,666,266 (GRCm39) V293E probably benign Het
Pramel22 T A 4: 143,380,817 (GRCm39) Y402F probably damaging Het
Prok1 T C 3: 107,144,531 (GRCm39) probably null Het
Ptcd1 T C 5: 145,091,500 (GRCm39) D533G possibly damaging Het
Ptpn13 T C 5: 103,707,891 (GRCm39) V1484A probably damaging Het
Rapgef2 A T 3: 79,000,293 (GRCm39) probably benign Het
Serpinb8 T G 1: 107,530,586 (GRCm39) F121L probably damaging Het
Sh3rf1 T A 8: 61,679,081 (GRCm39) V41E probably damaging Het
Snx13 A G 12: 35,182,126 (GRCm39) N725S possibly damaging Het
Stab1 A T 14: 30,867,981 (GRCm39) probably null Het
Themis A T 10: 28,637,616 (GRCm39) probably benign Het
Trim68 T A 7: 102,327,780 (GRCm39) Y391F probably benign Het
Trmt1 T G 8: 85,423,589 (GRCm39) V327G probably null Het
Vill C T 9: 118,896,513 (GRCm39) T120M probably benign Het
Other mutations in AU018091
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00899:AU018091 APN 7 3,208,603 (GRCm39) missense probably benign 0.01
IGL01063:AU018091 APN 7 3,212,153 (GRCm39) missense possibly damaging 0.62
IGL01598:AU018091 APN 7 3,212,110 (GRCm39) missense possibly damaging 0.71
IGL03253:AU018091 APN 7 3,214,002 (GRCm39) missense probably damaging 1.00
IGL03386:AU018091 APN 7 3,211,107 (GRCm39) missense probably damaging 1.00
R0070:AU018091 UTSW 7 3,208,738 (GRCm39) splice site probably null
R0070:AU018091 UTSW 7 3,208,738 (GRCm39) splice site probably null
R0733:AU018091 UTSW 7 3,209,001 (GRCm39) missense probably damaging 1.00
R1221:AU018091 UTSW 7 3,208,717 (GRCm39) missense probably damaging 1.00
R1467:AU018091 UTSW 7 3,214,089 (GRCm39) missense probably benign 0.01
R1467:AU018091 UTSW 7 3,214,089 (GRCm39) missense probably benign 0.01
R1708:AU018091 UTSW 7 3,206,184 (GRCm39) missense probably damaging 1.00
R1990:AU018091 UTSW 7 3,212,104 (GRCm39) missense probably benign 0.25
R4043:AU018091 UTSW 7 3,208,962 (GRCm39) missense probably damaging 1.00
R4369:AU018091 UTSW 7 3,207,815 (GRCm39) nonsense probably null
R4501:AU018091 UTSW 7 3,208,919 (GRCm39) missense probably benign 0.25
R4595:AU018091 UTSW 7 3,208,268 (GRCm39) missense possibly damaging 0.91
R4853:AU018091 UTSW 7 3,205,861 (GRCm39) missense probably damaging 1.00
R6834:AU018091 UTSW 7 3,207,795 (GRCm39) missense probably benign 0.06
R6836:AU018091 UTSW 7 3,213,986 (GRCm39) missense probably damaging 1.00
R6941:AU018091 UTSW 7 3,209,267 (GRCm39) critical splice donor site probably null
R7153:AU018091 UTSW 7 3,209,353 (GRCm39) missense probably benign 0.01
R7196:AU018091 UTSW 7 3,213,788 (GRCm39) missense probably damaging 1.00
R7237:AU018091 UTSW 7 3,209,006 (GRCm39) missense probably benign 0.00
R7366:AU018091 UTSW 7 3,206,170 (GRCm39) missense probably damaging 1.00
R7956:AU018091 UTSW 7 3,211,095 (GRCm39) missense probably benign 0.02
R9421:AU018091 UTSW 7 3,208,085 (GRCm39) missense probably benign 0.12
R9492:AU018091 UTSW 7 3,214,023 (GRCm39) missense probably benign 0.02
R9700:AU018091 UTSW 7 3,208,165 (GRCm39) missense probably benign
R9720:AU018091 UTSW 7 3,209,272 (GRCm39) missense probably benign 0.12
R9796:AU018091 UTSW 7 3,213,785 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CAGGATCCATGTGCTCATGT -3'
(R):5'- TCTGTGAGTTTGAAGTCAGCCT -3'

Sequencing Primer
(F):5'- CAGGATCCATGTGCTCATGTATATAC -3'
(R):5'- GAGAGAGAGAGACACACACAG -3'
Posted On 2016-06-08