Incidental Mutation 'IGL02671:1810043G02Rik'
ID302942
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 1810043G02Rik
Ensembl Gene ENSMUSG00000020284
Gene NameRIKEN cDNA 1810043G02 gene
SynonymsD10Jhu13e
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02671
Quality Score
Status
Chromosome10
Chromosomal Location77978524-77986905 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to T at 77980550 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000101037 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000105397] [ENSMUST00000105398]
Predicted Effect probably benign
Transcript: ENSMUST00000105397
SMART Domains Protein: ENSMUSP00000101036
Gene: ENSMUSG00000020284

DomainStartEndE-ValueType
LRRcap 104 122 3.42e-2 SMART
low complexity region 178 191 N/A INTRINSIC
low complexity region 210 227 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000105398
SMART Domains Protein: ENSMUSP00000101037
Gene: ENSMUSG00000020284

DomainStartEndE-ValueType
LRRcap 104 122 3.42e-2 SMART
low complexity region 178 191 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000116237
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123999
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129277
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130949
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136275
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149074
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Four alternatively spliced transcript variants encoding four different isoforms have been found for this nuclear gene. All isoforms contain leucine-rich repeats. Three of these isoforms are mitochondrial proteins and one of them lacks the target peptide, so is not located in mitochondrion. This gene is down-regulated in Down syndrome (DS) brain, which may represent mitochondrial dysfunction in DS patients. [provided by RefSeq, Sep 2012]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9030612E09Rik T A 10: 43,174,891 H60Q 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 1810043G02Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02227:1810043G02Rik APN 10 77982950 missense possibly damaging 0.62
IGL02376:1810043G02Rik APN 10 77984554 intron probably benign
R0145:1810043G02Rik UTSW 10 77983556 missense probably benign 0.04
R0347:1810043G02Rik UTSW 10 77984422 missense probably damaging 0.96
R0568:1810043G02Rik UTSW 10 77983038 missense possibly damaging 0.48
R0568:1810043G02Rik UTSW 10 77984547 makesense probably null
R1778:1810043G02Rik UTSW 10 77982944 missense probably benign 0.00
R2279:1810043G02Rik UTSW 10 77981642 missense probably damaging 1.00
R2939:1810043G02Rik UTSW 10 77981673 missense probably benign 0.00
R4656:1810043G02Rik UTSW 10 77981616 missense probably benign 0.01
R4866:1810043G02Rik UTSW 10 77981579 splice site probably null
R6539:1810043G02Rik UTSW 10 77984488 missense probably benign 0.07
R7016:1810043G02Rik UTSW 10 77982956 missense probably benign
R7950:1810043G02Rik UTSW 10 77979767 missense probably damaging 1.00
R8168:1810043G02Rik UTSW 10 77982944 missense probably benign
Posted On2015-04-16