Incidental Mutation 'IGL03229:Heatr6'
ID 413830
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Heatr6
Ensembl Gene ENSMUSG00000000976
Gene Name HEAT repeat containing 6
Synonyms 2700008B19Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.886) question?
Stock # IGL03229
Quality Score
Status
Chromosome 11
Chromosomal Location 83644522-83674580 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 83672271 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Valine at position 1093 (G1093V)
Ref Sequence ENSEMBL: ENSMUSP00000001002 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001002]
AlphaFold Q6P1G0
Predicted Effect probably benign
Transcript: ENSMUST00000001002
AA Change: G1093V

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000001002
Gene: ENSMUSG00000000976
AA Change: G1093V

DomainStartEndE-ValueType
low complexity region 160 174 N/A INTRINSIC
low complexity region 315 326 N/A INTRINSIC
low complexity region 329 348 N/A INTRINSIC
low complexity region 391 402 N/A INTRINSIC
Pfam:DUF4042 421 602 9.6e-73 PFAM
low complexity region 603 627 N/A INTRINSIC
low complexity region 634 647 N/A INTRINSIC
low complexity region 1078 1091 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125831
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136572
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb4 T C 5: 8,990,936 (GRCm39) I832T probably damaging Het
Adcyap1r1 T C 6: 55,455,108 (GRCm39) S124P probably damaging Het
Ccn3 A G 15: 54,612,704 (GRCm39) T238A probably benign Het
Coq4 A G 2: 29,678,497 (GRCm39) D41G probably benign Het
Cpb1 A T 3: 20,304,001 (GRCm39) Y354* probably null Het
Dip2b T C 15: 100,105,719 (GRCm39) probably benign Het
Dmxl2 C T 9: 54,311,456 (GRCm39) R1755H probably damaging Het
Dyrk4 G T 6: 126,863,605 (GRCm39) probably benign Het
E2f7 T C 10: 110,590,207 (GRCm39) V120A probably benign Het
Fsip2 A T 2: 82,808,420 (GRCm39) I1580F possibly damaging Het
Gm9755 C A 8: 67,967,324 (GRCm39) noncoding transcript Het
Gprc6a T G 10: 51,492,699 (GRCm39) N480T probably damaging Het
H2ac20 C T 3: 96,127,953 (GRCm39) A70T probably damaging Het
H2-T9 C T 17: 36,438,614 (GRCm39) G259E probably damaging Het
Hdlbp T C 1: 93,357,909 (GRCm39) I331V probably benign Het
Kri1 T C 9: 21,193,366 (GRCm39) E162G probably damaging Het
Nckipsd T C 9: 108,688,813 (GRCm39) V116A probably benign Het
Nek10 A G 14: 14,986,686 (GRCm38) H997R probably benign Het
Nxph1 A G 6: 9,247,830 (GRCm39) Y267C probably damaging Het
Or14a256 T C 7: 86,265,286 (GRCm39) D189G probably benign Het
Or8k40 A T 2: 86,584,360 (GRCm39) C241S probably damaging Het
Ppip5k2 A T 1: 97,656,686 (GRCm39) V829E probably damaging Het
Prkcz A C 4: 155,346,963 (GRCm39) S573A probably benign Het
Prl2c1 T A 13: 28,040,612 (GRCm39) probably benign Het
Rgs22 T A 15: 36,015,925 (GRCm39) probably benign Het
Scn1a T A 2: 66,130,057 (GRCm39) I1253F probably damaging Het
Tarm1 A G 7: 3,545,413 (GRCm39) C146R probably damaging Het
Tor2a A T 2: 32,649,704 (GRCm39) I189F probably damaging Het
Trappc9 A T 15: 72,930,305 (GRCm39) L17Q probably damaging Het
Trim45 T A 3: 100,830,385 (GRCm39) L53Q probably damaging Het
Ubr7 T C 12: 102,735,414 (GRCm39) L291P probably damaging Het
Unc79 T C 12: 103,100,798 (GRCm39) V1878A probably damaging Het
Wdr90 T C 17: 26,064,437 (GRCm39) probably benign Het
Xpnpep1 T C 19: 53,013,811 (GRCm39) H42R probably benign Het
Zfp750 G A 11: 121,403,778 (GRCm39) H366Y possibly damaging Het
Zmynd11 A G 13: 9,739,601 (GRCm39) C462R probably damaging Het
Other mutations in Heatr6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00971:Heatr6 APN 11 83,650,135 (GRCm39) missense probably damaging 1.00
IGL01681:Heatr6 APN 11 83,655,826 (GRCm39) missense probably benign 0.08
IGL01905:Heatr6 APN 11 83,672,538 (GRCm39) missense probably benign 0.06
IGL02037:Heatr6 APN 11 83,655,708 (GRCm39) splice site probably benign
IGL02313:Heatr6 APN 11 83,669,718 (GRCm39) missense probably damaging 1.00
IGL02652:Heatr6 APN 11 83,660,558 (GRCm39) missense probably damaging 1.00
IGL03004:Heatr6 APN 11 83,648,205 (GRCm39) missense probably benign 0.01
IGL03386:Heatr6 APN 11 83,650,203 (GRCm39) missense probably damaging 1.00
IGL02802:Heatr6 UTSW 11 83,651,762 (GRCm39) missense probably damaging 1.00
R0537:Heatr6 UTSW 11 83,670,290 (GRCm39) nonsense probably null
R1658:Heatr6 UTSW 11 83,649,193 (GRCm39) missense probably damaging 1.00
R1864:Heatr6 UTSW 11 83,660,056 (GRCm39) missense probably damaging 0.97
R1893:Heatr6 UTSW 11 83,648,140 (GRCm39) missense probably benign 0.33
R1944:Heatr6 UTSW 11 83,660,046 (GRCm39) missense probably damaging 1.00
R2115:Heatr6 UTSW 11 83,648,281 (GRCm39) unclassified probably benign
R3019:Heatr6 UTSW 11 83,669,658 (GRCm39) splice site probably null
R4050:Heatr6 UTSW 11 83,646,599 (GRCm39) missense probably damaging 0.99
R4532:Heatr6 UTSW 11 83,660,498 (GRCm39) missense probably damaging 1.00
R4576:Heatr6 UTSW 11 83,655,826 (GRCm39) missense probably benign 0.08
R4724:Heatr6 UTSW 11 83,670,374 (GRCm39) nonsense probably null
R4825:Heatr6 UTSW 11 83,649,148 (GRCm39) missense probably damaging 1.00
R5489:Heatr6 UTSW 11 83,665,258 (GRCm39) missense probably damaging 1.00
R5970:Heatr6 UTSW 11 83,644,544 (GRCm39) unclassified probably benign
R6136:Heatr6 UTSW 11 83,663,329 (GRCm39) missense possibly damaging 0.94
R6145:Heatr6 UTSW 11 83,656,962 (GRCm39) missense probably damaging 1.00
R6649:Heatr6 UTSW 11 83,650,191 (GRCm39) missense probably benign 0.01
R6653:Heatr6 UTSW 11 83,650,191 (GRCm39) missense probably benign 0.01
R6791:Heatr6 UTSW 11 83,649,167 (GRCm39) missense probably benign
R6865:Heatr6 UTSW 11 83,659,966 (GRCm39) missense probably damaging 1.00
R7154:Heatr6 UTSW 11 83,668,067 (GRCm39) missense probably benign 0.05
R7385:Heatr6 UTSW 11 83,650,161 (GRCm39) missense probably damaging 0.96
R7473:Heatr6 UTSW 11 83,672,217 (GRCm39) missense probably damaging 1.00
R7959:Heatr6 UTSW 11 83,672,189 (GRCm39) nonsense probably null
R8034:Heatr6 UTSW 11 83,644,735 (GRCm39) missense probably benign 0.01
R8202:Heatr6 UTSW 11 83,650,234 (GRCm39) missense possibly damaging 0.53
R8398:Heatr6 UTSW 11 83,672,164 (GRCm39) missense probably benign 0.01
R8472:Heatr6 UTSW 11 83,656,679 (GRCm39) missense probably benign 0.34
R8704:Heatr6 UTSW 11 83,668,104 (GRCm39) missense probably benign 0.09
R9604:Heatr6 UTSW 11 83,668,188 (GRCm39) missense probably damaging 0.99
X0014:Heatr6 UTSW 11 83,672,076 (GRCm39) missense probably damaging 0.97
Z1177:Heatr6 UTSW 11 83,672,208 (GRCm39) missense probably damaging 1.00
Z1177:Heatr6 UTSW 11 83,656,907 (GRCm39) missense probably benign 0.00
Posted On 2016-08-02