Incidental Mutation 'IGL03379:Heatr3'
ID420618
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Heatr3
Ensembl Gene ENSMUSG00000031657
Gene NameHEAT repeat containing 3
SynonymsC030036P15Rik
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.937) question?
Stock #IGL03379
Quality Score
Status
Chromosome8
Chromosomal Location88137855-88172027 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 88150110 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Arginine at position 143 (K143R)
Ref Sequence ENSEMBL: ENSMUSP00000112812 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034079] [ENSMUST00000121949]
Predicted Effect probably benign
Transcript: ENSMUST00000034079
AA Change: K260R

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000034079
Gene: ENSMUSG00000031657
AA Change: K260R

DomainStartEndE-ValueType
Pfam:HEAT_EZ 41 106 2.5e-11 PFAM
Blast:ARM 111 171 2e-25 BLAST
Blast:ARM 172 215 1e-15 BLAST
low complexity region 357 366 N/A INTRINSIC
low complexity region 375 393 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000121949
AA Change: K143R

PolyPhen 2 Score 0.127 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000112812
Gene: ENSMUSG00000031657
AA Change: K143R

DomainStartEndE-ValueType
Blast:ARM 1 54 7e-20 BLAST
Blast:ARM 55 98 8e-16 BLAST
low complexity region 240 249 N/A INTRINSIC
low complexity region 258 276 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene plays a role in ribosomal protein transport and in the assembly of the 5S ribonucleoprotein particle (5S RNP). The encoded protein also may be involved in NOD2-mediated NF-kappaB signaling. [provided by RefSeq, Jul 2016]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ank3 A G 10: 69,973,772 T260A probably damaging Het
Arhgap21 A G 2: 20,880,689 V559A probably benign Het
Arrdc5 G A 17: 56,294,589 Q179* probably null Het
Atrnl1 T C 19: 57,642,541 Y247H probably benign Het
Bend5 T A 4: 111,454,271 S361T probably benign Het
Cdc20b A G 13: 113,081,202 D385G probably damaging Het
Cep120 C T 18: 53,709,136 S709N probably benign Het
Eif2b4 A G 5: 31,190,011 probably benign Het
Eif2s1 T A 12: 78,866,580 D18E probably benign Het
Etl4 G A 2: 20,662,016 S209N possibly damaging Het
Farp2 T A 1: 93,607,438 F636L probably benign Het
Fcgbp A T 7: 28,089,917 D636V possibly damaging Het
Gm5082 T C 13: 41,656,426 noncoding transcript Het
Gtf2ird1 C T 5: 134,382,538 G672D possibly damaging Het
Hrc A G 7: 45,337,255 E610G probably benign Het
Ica1l G A 1: 59,997,621 S337F probably benign Het
Ighv1-43 T C 12: 114,946,005 Y99C probably benign Het
Kcna3 T A 3: 107,037,205 F261L probably benign Het
Kdm4d T C 9: 14,463,843 R240G probably damaging Het
Kidins220 T A 12: 25,008,448 I620N probably damaging Het
Kif5c A G 2: 49,701,092 M55V probably damaging Het
Oas1a A T 5: 120,896,999 L366Q possibly damaging Het
Olfr493 T C 7: 108,346,989 probably benign Het
Pds5b T C 5: 150,788,331 V918A probably damaging Het
Plcz1 G A 6: 139,990,764 L580F possibly damaging Het
Prlr C A 15: 10,319,317 P147T possibly damaging Het
Ptpn18 A T 1: 34,470,257 probably null Het
Ptprt A T 2: 161,555,459 C1109* probably null Het
Ralgapa2 A T 2: 146,357,987 S1212R probably benign Het
Scn2b T A 9: 45,126,200 C182S probably damaging Het
Slc7a14 A T 3: 31,223,515 M647K probably damaging Het
Sult2a6 G A 7: 14,222,586 T250I probably benign Het
Syn3 A T 10: 86,064,872 M384K possibly damaging Het
Tmem8b A G 4: 43,685,561 T596A probably benign Het
Tnpo1 C T 13: 98,863,840 E340K probably damaging Het
Vat1l A T 8: 114,282,266 I247F probably damaging Het
Vmn2r110 T C 17: 20,583,644 D223G probably damaging Het
Wdr11 T A 7: 129,599,123 D99E probably damaging Het
Zan C T 5: 137,464,215 V901I unknown Het
Other mutations in Heatr3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00544:Heatr3 APN 8 88141739 missense possibly damaging 0.95
IGL00780:Heatr3 APN 8 88170940 missense probably benign 0.01
IGL01105:Heatr3 APN 8 88161893 missense probably benign 0.04
IGL01653:Heatr3 APN 8 88144617 missense probably benign
IGL02129:Heatr3 APN 8 88158271 splice site probably benign
IGL02145:Heatr3 APN 8 88144599 missense probably benign 0.40
IGL02177:Heatr3 APN 8 88156723 missense probably benign
IGL02309:Heatr3 APN 8 88167072 missense probably damaging 1.00
IGL02675:Heatr3 APN 8 88144557 missense possibly damaging 0.91
R0763:Heatr3 UTSW 8 88158241 missense probably damaging 1.00
R1244:Heatr3 UTSW 8 88141739 missense possibly damaging 0.95
R1883:Heatr3 UTSW 8 88144593 missense possibly damaging 0.95
R1988:Heatr3 UTSW 8 88150317 missense probably benign 0.02
R2043:Heatr3 UTSW 8 88147694 splice site probably benign
R2079:Heatr3 UTSW 8 88141776 missense probably damaging 0.99
R2402:Heatr3 UTSW 8 88144572 missense probably benign 0.33
R3916:Heatr3 UTSW 8 88150371 critical splice donor site probably null
R3917:Heatr3 UTSW 8 88150371 critical splice donor site probably null
R4127:Heatr3 UTSW 8 88138311 missense probably damaging 0.99
R4182:Heatr3 UTSW 8 88171002 utr 3 prime probably benign
R4190:Heatr3 UTSW 8 88138260 unclassified probably benign
R4769:Heatr3 UTSW 8 88141783 critical splice donor site probably null
R6046:Heatr3 UTSW 8 88139954 missense probably damaging 1.00
R6073:Heatr3 UTSW 8 88138140 missense probably benign 0.01
R6888:Heatr3 UTSW 8 88170884 missense probably damaging 1.00
R7284:Heatr3 UTSW 8 88156774 missense possibly damaging 0.69
RF025:Heatr3 UTSW 8 88156456 critical splice acceptor site probably benign
RF031:Heatr3 UTSW 8 88156457 critical splice acceptor site probably benign
RF033:Heatr3 UTSW 8 88156456 critical splice acceptor site probably benign
RF040:Heatr3 UTSW 8 88156457 critical splice acceptor site probably benign
Posted On2016-08-02