Incidental Mutation 'R1244:Heatr3'
ID 152092
Institutional Source Beutler Lab
Gene Symbol Heatr3
Ensembl Gene ENSMUSG00000031657
Gene Name HEAT repeat containing 3
Synonyms C030036P15Rik
MMRRC Submission 039311-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.934) question?
Stock # R1244 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 88864483-88898655 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 88868367 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 39 (E39G)
Ref Sequence ENSEMBL: ENSMUSP00000112812 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034079] [ENSMUST00000121949]
AlphaFold Q8BQM4
Predicted Effect possibly damaging
Transcript: ENSMUST00000034079
AA Change: E156G

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000034079
Gene: ENSMUSG00000031657
AA Change: E156G

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 noncoding transcript
Transcript: ENSMUST00000069786
Predicted Effect possibly damaging
Transcript: ENSMUST00000121949
AA Change: E39G

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000112812
Gene: ENSMUSG00000031657
AA Change: E39G

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184847
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.7%
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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik C T 12: 71,262,918 (GRCm39) T1417I probably benign Het
Abca14 G A 7: 119,815,561 (GRCm39) A270T probably benign Het
Abtb3 C A 10: 85,223,227 (GRCm39) T12K unknown Het
Ash2l T C 8: 26,307,449 (GRCm39) S529G probably damaging Het
Atp13a3 T C 16: 30,180,654 (GRCm39) Y125C probably benign Het
Calca A G 7: 114,232,962 (GRCm39) Y96H probably damaging Het
Cct4 A G 11: 22,946,417 (GRCm39) E131G probably benign Het
Cd84 A G 1: 171,679,397 (GRCm39) D25G probably damaging Het
Chd9 A G 8: 91,749,557 (GRCm39) D1728G probably damaging Het
Cyp39a1 A T 17: 44,060,836 (GRCm39) K461N probably benign Het
Ddx50 T A 10: 62,478,703 (GRCm39) Q161L probably damaging Het
Golga5 A G 12: 102,438,554 (GRCm39) T90A probably benign Het
Hipk3 G A 2: 104,263,601 (GRCm39) R905W probably damaging Het
Hsd11b1 T G 1: 192,906,068 (GRCm39) M175L probably benign Het
Htra1 G A 7: 130,586,799 (GRCm39) V461I possibly damaging Het
Il10 A G 1: 130,951,953 (GRCm39) D162G probably damaging Het
Mapre2 A G 18: 23,986,774 (GRCm39) K62R probably damaging Het
Mrc2 G A 11: 105,239,257 (GRCm39) probably null Het
Ogfod1 A G 8: 94,763,999 (GRCm39) D28G probably benign Het
Or5an10 A T 19: 12,275,860 (GRCm39) I212N probably damaging Het
Perm1 C T 4: 156,302,340 (GRCm39) R295C probably benign Het
Ppp4c A G 7: 126,385,452 (GRCm39) V119A probably damaging Het
Scn2a T C 2: 65,593,999 (GRCm39) I1616T probably damaging Het
Sipa1l1 A G 12: 82,472,190 (GRCm39) N1390S probably benign Het
Sub1 A T 15: 11,991,130 (GRCm39) V37E possibly damaging Het
Tbc1d17 A T 7: 44,493,822 (GRCm39) V267E probably damaging Het
Ulk1 C T 5: 110,937,223 (GRCm39) R691Q probably benign Het
Vmn1r77 A T 7: 11,775,847 (GRCm39) T140S possibly damaging Het
Vmn2r15 A T 5: 109,441,092 (GRCm39) Y255* probably null Het
Other mutations in Heatr3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00544:Heatr3 APN 8 88,868,367 (GRCm39) missense possibly damaging 0.95
IGL00780:Heatr3 APN 8 88,897,568 (GRCm39) missense probably benign 0.01
IGL01105:Heatr3 APN 8 88,888,521 (GRCm39) missense probably benign 0.04
IGL01653:Heatr3 APN 8 88,871,245 (GRCm39) missense probably benign
IGL02129:Heatr3 APN 8 88,884,899 (GRCm39) splice site probably benign
IGL02145:Heatr3 APN 8 88,871,227 (GRCm39) missense probably benign 0.40
IGL02177:Heatr3 APN 8 88,883,351 (GRCm39) missense probably benign
IGL02309:Heatr3 APN 8 88,893,700 (GRCm39) missense probably damaging 1.00
IGL02675:Heatr3 APN 8 88,871,185 (GRCm39) missense possibly damaging 0.91
IGL03379:Heatr3 APN 8 88,876,738 (GRCm39) missense probably benign 0.13
R0763:Heatr3 UTSW 8 88,884,869 (GRCm39) missense probably damaging 1.00
R1883:Heatr3 UTSW 8 88,871,221 (GRCm39) missense possibly damaging 0.95
R1988:Heatr3 UTSW 8 88,876,945 (GRCm39) missense probably benign 0.02
R2043:Heatr3 UTSW 8 88,874,322 (GRCm39) splice site probably benign
R2079:Heatr3 UTSW 8 88,868,404 (GRCm39) missense probably damaging 0.99
R2402:Heatr3 UTSW 8 88,871,200 (GRCm39) missense probably benign 0.33
R3916:Heatr3 UTSW 8 88,876,999 (GRCm39) critical splice donor site probably null
R3917:Heatr3 UTSW 8 88,876,999 (GRCm39) critical splice donor site probably null
R4127:Heatr3 UTSW 8 88,864,939 (GRCm39) missense probably damaging 0.99
R4182:Heatr3 UTSW 8 88,897,630 (GRCm39) utr 3 prime probably benign
R4190:Heatr3 UTSW 8 88,864,888 (GRCm39) unclassified probably benign
R4769:Heatr3 UTSW 8 88,868,411 (GRCm39) critical splice donor site probably null
R6046:Heatr3 UTSW 8 88,866,582 (GRCm39) missense probably damaging 1.00
R6073:Heatr3 UTSW 8 88,864,768 (GRCm39) missense probably benign 0.01
R6888:Heatr3 UTSW 8 88,897,512 (GRCm39) missense probably damaging 1.00
R7284:Heatr3 UTSW 8 88,883,402 (GRCm39) missense possibly damaging 0.69
R8278:Heatr3 UTSW 8 88,883,361 (GRCm39) missense possibly damaging 0.50
R9076:Heatr3 UTSW 8 88,876,827 (GRCm39) missense probably benign
R9262:Heatr3 UTSW 8 88,883,097 (GRCm39) missense probably benign 0.32
RF025:Heatr3 UTSW 8 88,883,084 (GRCm39) critical splice acceptor site probably benign
RF031:Heatr3 UTSW 8 88,883,085 (GRCm39) critical splice acceptor site probably benign
RF033:Heatr3 UTSW 8 88,883,084 (GRCm39) critical splice acceptor site probably benign
RF040:Heatr3 UTSW 8 88,883,085 (GRCm39) critical splice acceptor site probably benign
Predicted Primers PCR Primer
(F):5'- ATGCCCAAGGGATGGACCATGTAG -3'
(R):5'- GGAAGAGAAGCAGCCTTGTTCCTC -3'

Sequencing Primer
(F):5'- ACCATGTAGAGAACTGTACCTG -3'
(R):5'- ATCAGCCAATGTTCGTGGTC -3'
Posted On 2014-01-29