Incidental Mutation 'IGL02273:4930451I11Rik'
ID 287245
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 4930451I11Rik
Ensembl Gene ENSMUSG00000045989
Gene Name RIKEN cDNA 4930451I11 gene
Synonyms
Accession Numbers
Essential gene? Not available question?
Stock # IGL02273
Quality Score
Status
Chromosome 7
Chromosomal Location 126429640-126430712 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 126429931 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 89 (T89A)
Ref Sequence ENSEMBL: ENSMUSP00000049614 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061695] [ENSMUST00000079423] [ENSMUST00000098032] [ENSMUST00000205324] [ENSMUST00000205722] [ENSMUST00000207020]
AlphaFold E9Q9R3
Predicted Effect probably benign
Transcript: ENSMUST00000061695
AA Change: T89A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000049614
Gene: ENSMUSG00000045989
AA Change: T89A

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
transmembrane domain 85 107 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000079423
SMART Domains Protein: ENSMUSP00000078392
Gene: ENSMUSG00000058966

DomainStartEndE-ValueType
TLC 34 261 1.2e-46 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000098032
SMART Domains Protein: ENSMUSP00000095640
Gene: ENSMUSG00000058966

DomainStartEndE-ValueType
transmembrane domain 4 23 N/A INTRINSIC
TLC 34 261 8.37e-46 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000205320
Predicted Effect probably benign
Transcript: ENSMUST00000205324
Predicted Effect probably benign
Transcript: ENSMUST00000205722
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205907
Predicted Effect probably benign
Transcript: ENSMUST00000207020
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Amhr2 T C 15: 102,360,924 (GRCm39) V353A probably benign Het
Bbox1 A T 2: 110,105,961 (GRCm39) Y194* probably null Het
Bltp1 T A 3: 36,975,586 (GRCm39) probably benign Het
Bnipl C A 3: 95,153,086 (GRCm39) R131L possibly damaging Het
Casp8ap2 T C 4: 32,643,974 (GRCm39) S1016P probably damaging Het
Cblb A G 16: 51,867,657 (GRCm39) I88M possibly damaging Het
Cyp24a1 A T 2: 170,338,278 (GRCm39) Y89N probably damaging Het
Ddx25 G T 9: 35,458,122 (GRCm39) N332K possibly damaging Het
Dnaaf5 C T 5: 139,163,671 (GRCm39) Q348* probably null Het
Dnah3 A T 7: 119,550,494 (GRCm39) I3264N probably damaging Het
Eml4 T A 17: 83,763,808 (GRCm39) probably null Het
Farsa C T 8: 85,594,455 (GRCm39) A368V probably damaging Het
Fat1 T C 8: 45,403,368 (GRCm39) Y40H probably damaging Het
Glt1d1 T A 5: 127,734,208 (GRCm39) probably benign Het
Gm5422 A G 10: 31,126,003 (GRCm39) noncoding transcript Het
Gpr135 A G 12: 72,116,732 (GRCm39) I345T probably damaging Het
Hmcn2 G A 2: 31,314,389 (GRCm39) V3616I probably benign Het
Kif9 A T 9: 110,339,538 (GRCm39) K460M probably damaging Het
Ldhd T C 8: 112,353,922 (GRCm39) E426G probably benign Het
Mdh1 A T 11: 21,509,786 (GRCm39) N196K probably benign Het
Nfkb1 A T 3: 135,310,968 (GRCm39) C444S probably benign Het
Pfkfb2 G A 1: 130,635,319 (GRCm39) R81C probably damaging Het
Pfpl T C 19: 12,407,327 (GRCm39) V526A possibly damaging Het
Phf20l1 T A 15: 66,511,874 (GRCm39) V951E probably damaging Het
Pik3cg A T 12: 32,226,809 (GRCm39) L1026Q probably damaging Het
Pms1 T C 1: 53,247,156 (GRCm39) N263S probably damaging Het
Prkcb T A 7: 122,226,990 (GRCm39) F659I probably damaging Het
Prr14 A G 7: 127,075,108 (GRCm39) I69M probably damaging Het
Rita1 C T 5: 120,747,858 (GRCm39) A147T probably damaging Het
Senp5 T C 16: 31,808,690 (GRCm39) H161R probably benign Het
Spc25 A G 2: 69,035,273 (GRCm39) probably benign Het
Spty2d1 A G 7: 46,647,321 (GRCm39) V536A probably damaging Het
Susd2 A G 10: 75,476,772 (GRCm39) S84P possibly damaging Het
Tacc1 A C 8: 25,649,797 (GRCm39) L768V probably damaging Het
Tbpl2 A T 2: 23,986,531 (GRCm39) I5N probably benign Het
Tmc2 A G 2: 130,071,126 (GRCm39) D285G probably damaging Het
Tns3 A T 11: 8,384,531 (GRCm39) V1429E probably damaging Het
Trmt44 T C 5: 35,731,457 (GRCm39) Y190C probably damaging Het
Ubr4 G A 4: 139,199,889 (GRCm39) R4591H possibly damaging Het
Zfc3h1 T A 10: 115,263,004 (GRCm39) D1739E probably benign Het
Zfp26 A G 9: 20,352,744 (GRCm39) V107A probably damaging Het
Other mutations in 4930451I11Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
R2848:4930451I11Rik UTSW 7 126,429,894 (GRCm39) missense possibly damaging 0.96
R4257:4930451I11Rik UTSW 7 126,430,662 (GRCm39) unclassified probably benign
R6207:4930451I11Rik UTSW 7 126,430,065 (GRCm39) missense probably damaging 1.00
R6954:4930451I11Rik UTSW 7 126,429,809 (GRCm39) splice site probably null
R8087:4930451I11Rik UTSW 7 126,430,052 (GRCm39) missense possibly damaging 0.81
Posted On 2015-04-16