Incidental Mutation 'IGL01884:1190005I06Rik'
ID 179083
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 1190005I06Rik
Ensembl Gene ENSMUSG00000043687
Gene Name RIKEN cDNA 1190005I06 gene
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.060) question?
Stock # IGL01884
Quality Score
Status
Chromosome 8
Chromosomal Location 121335341-121361129 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) G to A at 121335774 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000137785 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000123927] [ENSMUST00000127664] [ENSMUST00000144417] [ENSMUST00000180677] [ENSMUST00000181333]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000123927
SMART Domains Protein: ENSMUSP00000119467
Gene: ENSMUSG00000043687

DomainStartEndE-ValueType
low complexity region 15 32 N/A INTRINSIC
Pfam:DUF4597 48 110 4.2e-44 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000127664
SMART Domains Protein: ENSMUSP00000118564
Gene: ENSMUSG00000092329

DomainStartEndE-ValueType
Pfam:Glycos_transf_2 104 287 7.4e-31 PFAM
Pfam:Glyco_transf_7C 261 331 4.9e-8 PFAM
RICIN 406 531 9.28e-27 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000144417
SMART Domains Protein: ENSMUSP00000121882
Gene: ENSMUSG00000043687

DomainStartEndE-ValueType
low complexity region 15 26 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000180677
SMART Domains Protein: ENSMUSP00000137752
Gene: ENSMUSG00000043687

DomainStartEndE-ValueType
Pfam:DUF4597 13 75 1.3e-44 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000181333
SMART Domains Protein: ENSMUSP00000137785
Gene: ENSMUSG00000097919

DomainStartEndE-ValueType
Pfam:UPF0172 1 79 4.9e-29 PFAM
Pfam:DUF4597 93 155 2.5e-43 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Col11a1 G A 3: 113,860,191 (GRCm39) G206R unknown Het
Cyp2e1 T C 7: 140,353,663 (GRCm39) Y426H probably benign Het
Fcrl1 A G 3: 87,292,044 (GRCm39) K68E probably damaging Het
Gabbr2 A G 4: 46,875,711 (GRCm39) V137A probably damaging Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
Gm21738 G A 14: 19,416,979 (GRCm38) S144L probably benign Het
Hacd1 G A 2: 14,040,593 (GRCm39) P221S probably damaging Het
Kndc1 C T 7: 139,494,110 (GRCm39) T535I probably damaging Het
Lce1f G T 3: 92,626,608 (GRCm39) C16* probably null Het
Lrba C T 3: 86,217,719 (GRCm39) A543V possibly damaging Het
Lrp1b A T 2: 41,174,225 (GRCm39) C676* probably null Het
Mocos A G 18: 24,816,273 (GRCm39) K617E probably damaging Het
Muc5b A G 7: 141,421,820 (GRCm39) probably benign Het
Mylk A T 16: 34,809,247 (GRCm39) probably benign Het
Naip2 A G 13: 100,325,329 (GRCm39) probably benign Het
Or6c76 A G 10: 129,612,697 (GRCm39) K320E probably benign Het
Pcdhb5 C T 18: 37,454,387 (GRCm39) P256S probably benign Het
Rbl2 A G 8: 91,823,464 (GRCm39) E464G probably damaging Het
Rfc1 A T 5: 65,431,803 (GRCm39) L769Q possibly damaging Het
Setd7 T C 3: 51,450,132 (GRCm39) Y98C possibly damaging Het
Tbc1d8 A G 1: 39,415,526 (GRCm39) Y920H probably damaging Het
Tcte1 T C 17: 45,850,735 (GRCm39) probably null Het
Vmn2r129 C T 4: 156,690,549 (GRCm39) noncoding transcript Het
Other mutations in 1190005I06Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
R6466:1190005I06Rik UTSW 8 121,335,735 (GRCm39) missense probably damaging 1.00
R7274:1190005I06Rik UTSW 8 121,338,005 (GRCm39) missense possibly damaging 0.71
R9361:1190005I06Rik UTSW 8 121,361,060 (GRCm39) missense unknown
Posted On 2014-05-07