Incidental Mutation 'IGL02671:9030612E09Rik'
ID302920
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 9030612E09Rik
Ensembl Gene ENSMUSG00000045008
Gene NameRIKEN cDNA 9030612E09 gene
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.059) question?
Stock #IGL02671
Quality Score
Status
Chromosome10
Chromosomal Location43174704-43176562 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 43174891 bp
ZygosityHeterozygous
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]
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
1810043G02Rik A T 10: 77,980,550 probably benign Het
Agrn C T 4: 156,174,561 probably benign Het
Angpt1 C T 15: 42,676,394 R23H possibly damaging Het
Cadps T A 14: 12,491,824 E775D probably damaging Het
Cdc42bpa T A 1: 180,061,822 M211K probably benign Het
Clec16a A G 16: 10,627,381 M77V probably benign Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Cyp27b1 G T 10: 127,051,043 probably null Het
Eef1d A G 15: 75,895,805 I240T probably damaging Het
Fras1 T A 5: 96,728,616 F2403I possibly damaging Het
Ighv1-47 C T 12: 114,991,398 V21I possibly damaging Het
Kank1 T C 19: 25,428,095 L1159P probably damaging Het
Kif12 T C 4: 63,170,457 E202G probably benign Het
Kif17 A G 4: 138,288,061 D315G possibly damaging Het
Mcam T C 9: 44,137,034 probably benign Het
Mpdz A T 4: 81,290,273 D1778E probably damaging Het
Numbl C T 7: 27,264,902 R46W probably damaging Het
Olfr213 C T 6: 116,541,143 T230I possibly damaging Het
Olfr366 A T 2: 37,220,245 Y252F probably damaging Het
Pde3b T C 7: 114,523,345 V716A possibly damaging Het
Plcg1 T A 2: 160,755,752 Y771* probably null Het
Pramel5 A G 4: 144,273,112 V135A probably benign Het
Slu7 A G 11: 43,445,475 probably null Het
Taf2 C T 15: 55,034,176 V919I probably benign Het
Tcf12 G A 9: 72,109,717 T36M probably damaging Het
Tlr11 A T 14: 50,360,692 D45V probably damaging Het
Tmem132b A G 5: 125,778,727 T508A probably damaging Het
Trf C T 9: 103,211,982 E569K probably benign Het
Trim24 T C 6: 37,960,784 C875R probably damaging Het
Usf3 A G 16: 44,221,781 N2208S probably damaging Het
Usp14 A G 18: 9,997,196 V436A probably damaging Het
Vwa5b1 G A 4: 138,569,126 R1197* probably null Het
Other mutations in 9030612E09Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01762:9030612E09Rik APN 10 43174851 nonsense probably null
IGL02342:9030612E09Rik APN 10 43175001 missense probably damaging 0.99
R0801:9030612E09Rik UTSW 10 43174991 missense possibly damaging 0.66
R2411:9030612E09Rik UTSW 10 43174800 missense possibly damaging 0.66
R6548:9030612E09Rik UTSW 10 43174773 missense probably damaging 0.97
Posted On2015-04-16