Incidental Mutation 'R0104:3100002H09Rik'
ID 17868
Institutional Source Beutler Lab
Gene Symbol 3100002H09Rik
Ensembl Gene ENSMUSG00000051219
Gene Name RIKEN cDNA 3100002H09 gene
Synonyms
MMRRC Submission 038390-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.052) question?
Stock # R0104 (G1)
Quality Score
Status Validated
Chromosome 4
Chromosomal Location 124503724-124504596 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 124504469 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Serine at position 28 (A28S)
Ref Sequence ENSEMBL: ENSMUSP00000053274 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053604]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000053604
AA Change: A28S

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000053274
Gene: ENSMUSG00000051219
AA Change: A28S

DomainStartEndE-ValueType
transmembrane domain 20 42 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184062
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 75.5%
  • 3x: 52.6%
  • 10x: 7.5%
  • 20x: 3.0%
Validation Efficiency 100% (37/37)
Allele List at MGI
Other mutations in this stock
Total: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap5 A T 12: 52,563,500 (GRCm39) D157V probably damaging Het
Cfap54 G T 10: 92,864,514 (GRCm39) H142N probably damaging Het
Dpp10 A T 1: 123,295,572 (GRCm39) M525K probably benign Het
Fsip2 A T 2: 82,809,317 (GRCm39) T1879S possibly damaging Het
Gm14129 T C 2: 148,773,493 (GRCm39) noncoding transcript Het
Ighv2-7 A T 12: 113,771,088 (GRCm39) W66R probably damaging Het
Kif11 T A 19: 37,401,663 (GRCm39) V880D probably benign Het
Mcpt1 T A 14: 56,256,888 (GRCm39) M142K possibly damaging Het
Mlst8 T C 17: 24,695,091 (GRCm39) N264S possibly damaging Het
Nmrk1 T A 19: 18,618,582 (GRCm39) S88R probably benign Het
Or14j2 T A 17: 37,885,817 (GRCm39) I166F probably damaging Het
Or8d23 A G 9: 38,842,261 (GRCm39) S265G possibly damaging Het
Rtn1 A T 12: 72,355,619 (GRCm39) I109N probably damaging Het
Slc15a2 T A 16: 36,594,997 (GRCm39) L156F possibly damaging Het
Slc22a21 A C 11: 53,842,635 (GRCm39) M498R probably null Het
Ssc5d T C 7: 4,939,285 (GRCm39) S574P probably benign Het
Taf2 T C 15: 54,901,734 (GRCm39) D820G probably benign Het
Tas2r135 A T 6: 42,383,258 (GRCm39) I266F possibly damaging Het
Trgv4 C T 13: 19,369,480 (GRCm39) H75Y probably damaging Het
Vil1 A G 1: 74,457,525 (GRCm39) K53E probably benign Het
Zfc3h1 T A 10: 115,251,192 (GRCm39) M1261K possibly damaging Het
Zfp655 T C 5: 145,180,825 (GRCm39) S228P probably damaging Het
Zfyve9 C A 4: 108,575,360 (GRCm39) D574Y probably damaging Het
Other mutations in 3100002H09Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00972:3100002H09Rik APN 4 124,504,484 (GRCm39) missense probably damaging 0.99
IGL01363:3100002H09Rik APN 4 124,504,483 (GRCm39) missense probably damaging 0.99
IGL02139:3100002H09Rik APN 4 124,504,369 (GRCm39) missense unknown
IGL02641:3100002H09Rik APN 4 124,504,510 (GRCm39) missense unknown
R1522:3100002H09Rik UTSW 4 124,504,487 (GRCm39) missense probably damaging 0.99
R5590:3100002H09Rik UTSW 4 124,504,280 (GRCm39) missense unknown
R6136:3100002H09Rik UTSW 4 124,504,181 (GRCm39) missense unknown
R6251:3100002H09Rik UTSW 4 124,504,445 (GRCm39) missense probably damaging 0.99
R6667:3100002H09Rik UTSW 4 124,504,435 (GRCm39) missense probably damaging 0.99
R8709:3100002H09Rik UTSW 4 124,504,316 (GRCm39) missense unknown
R9478:3100002H09Rik UTSW 4 124,504,151 (GRCm39) missense unknown
Z1176:3100002H09Rik UTSW 4 124,504,498 (GRCm39) missense unknown
Posted On 2013-03-25