Incidental Mutation 'IGL02671:9030612E09Rik'
ID 302920
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 9030612E09Rik
Ensembl Gene ENSMUSG00000045008
Gene Name RIKEN cDNA 9030612E09 gene
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.065) question?
Stock # IGL02671
Quality Score
Status
Chromosome 10
Chromosomal Location 43050695-43052558 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 43050887 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 60 (H60Q)
Ref Sequence ENSEMBL: ENSMUSP00000049699 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040275] [ENSMUST00000053792]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000040275
SMART Domains Protein: ENSMUSP00000040072
Gene: ENSMUSG00000038248

DomainStartEndE-ValueType
low complexity region 125 139 N/A INTRINSIC
internal_repeat_1 149 201 2.34e-5 PROSPERO
Pfam:SOBP 224 543 1.5e-88 PFAM
low complexity region 565 583 N/A INTRINSIC
low complexity region 590 603 N/A INTRINSIC
low complexity region 625 639 N/A INTRINSIC
low complexity region 695 714 N/A INTRINSIC
low complexity region 725 747 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000053792
AA Change: H60Q

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000049699
Gene: ENSMUSG00000045008
AA Change: H60Q

DomainStartEndE-ValueType
low complexity region 10 25 N/A INTRINSIC
low complexity region 45 58 N/A INTRINSIC
low complexity region 59 72 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189221
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189987
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agrn C T 4: 156,259,018 (GRCm39) probably benign Het
Angpt1 C T 15: 42,539,790 (GRCm39) R23H possibly damaging Het
Cadps T A 14: 12,491,824 (GRCm38) E775D probably damaging Het
Cdc42bpa T A 1: 179,889,387 (GRCm39) M211K probably benign Het
Cfap410 A T 10: 77,816,384 (GRCm39) probably benign Het
Clec16a A G 16: 10,445,245 (GRCm39) M77V probably benign Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Cyp27b1 G T 10: 126,886,912 (GRCm39) probably null Het
Eef1d A G 15: 75,767,654 (GRCm39) I240T probably damaging Het
Fras1 T A 5: 96,876,475 (GRCm39) F2403I possibly damaging Het
Ighv1-47 C T 12: 114,955,018 (GRCm39) V21I possibly damaging Het
Kank1 T C 19: 25,405,459 (GRCm39) L1159P probably damaging Het
Kif12 T C 4: 63,088,694 (GRCm39) E202G probably benign Het
Kif17 A G 4: 138,015,372 (GRCm39) D315G possibly damaging Het
Mcam T C 9: 44,048,331 (GRCm39) probably benign Het
Mpdz A T 4: 81,208,510 (GRCm39) D1778E probably damaging Het
Numbl C T 7: 26,964,327 (GRCm39) R46W probably damaging Het
Or1af1 A T 2: 37,110,257 (GRCm39) Y252F probably damaging Het
Or6d13 C T 6: 116,518,104 (GRCm39) T230I possibly damaging Het
Pde3b T C 7: 114,122,580 (GRCm39) V716A possibly damaging Het
Plcg1 T A 2: 160,597,672 (GRCm39) Y771* probably null Het
Pramel5 A G 4: 143,999,682 (GRCm39) V135A probably benign Het
Slu7 A G 11: 43,336,302 (GRCm39) probably null Het
Taf2 C T 15: 54,897,572 (GRCm39) V919I probably benign Het
Tcf12 G A 9: 72,016,999 (GRCm39) T36M probably damaging Het
Tlr11 A T 14: 50,598,149 (GRCm39) D45V probably damaging Het
Tmem132b A G 5: 125,855,791 (GRCm39) T508A probably damaging Het
Trf C T 9: 103,089,181 (GRCm39) E569K probably benign Het
Trim24 T C 6: 37,937,719 (GRCm39) C875R probably damaging Het
Usf3 A G 16: 44,042,144 (GRCm39) N2208S probably damaging Het
Usp14 A G 18: 9,997,196 (GRCm39) V436A probably damaging Het
Vwa5b1 G A 4: 138,296,437 (GRCm39) R1197* probably null Het
Other mutations in 9030612E09Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01762:9030612E09Rik APN 10 43,050,847 (GRCm39) nonsense probably null
IGL02342:9030612E09Rik APN 10 43,050,997 (GRCm39) missense probably damaging 0.99
R0801:9030612E09Rik UTSW 10 43,050,987 (GRCm39) missense possibly damaging 0.66
R2411:9030612E09Rik UTSW 10 43,050,796 (GRCm39) missense possibly damaging 0.66
R6548:9030612E09Rik UTSW 10 43,050,769 (GRCm39) missense probably damaging 0.97
Posted On 2015-04-16