Incidental Mutation 'IGL02652:Heatr6'
ID 302191
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 # IGL02652
Quality Score
Status
Chromosome 11
Chromosomal Location 83644522-83674580 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 83660558 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 566 (V566A)
Ref Sequence ENSEMBL: ENSMUSP00000001002 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001002]
AlphaFold Q6P1G0
Predicted Effect probably damaging
Transcript: ENSMUST00000001002
AA Change: V566A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000001002
Gene: ENSMUSG00000000976
AA Change: V566A

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: ENSMUST00000127428
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136572
Predicted Effect noncoding transcript
Transcript: ENSMUST00000158006
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap28 A T 17: 68,191,795 (GRCm39) D139E probably benign Het
Asph C T 4: 9,529,984 (GRCm39) V347I probably benign Het
Ccdc138 A T 10: 58,348,901 (GRCm39) D149V probably benign Het
Cep192 A G 18: 67,991,921 (GRCm39) probably benign Het
Cnnm2 G A 19: 46,751,650 (GRCm39) R480Q probably damaging Het
Col24a1 C A 3: 145,198,056 (GRCm39) S1321* probably null Het
Cops6 T G 5: 138,159,700 (GRCm39) probably null Het
Crim1 G A 17: 78,623,106 (GRCm39) A435T probably damaging Het
Cttn G T 7: 143,995,468 (GRCm39) Q382K probably benign Het
Dhx38 A G 8: 110,282,761 (GRCm39) L635P probably damaging Het
Dmtf1 T A 5: 9,171,853 (GRCm39) T458S probably benign Het
Dnah5 T C 15: 28,366,333 (GRCm39) F2682S probably damaging Het
Dnah6 T A 6: 73,072,087 (GRCm39) Q2413L probably damaging Het
Dock10 T C 1: 80,570,561 (GRCm39) probably null Het
Engase C T 11: 118,369,776 (GRCm39) P63S probably damaging Het
Grik4 A G 9: 42,586,573 (GRCm39) V94A possibly damaging Het
Hydin A C 8: 111,316,154 (GRCm39) T4349P possibly damaging Het
Inpp4b G A 8: 82,497,429 (GRCm39) probably benign Het
Mertk A G 2: 128,643,190 (GRCm39) E863G probably benign Het
Muc19 T A 15: 91,762,009 (GRCm39) noncoding transcript Het
Myo9a T A 9: 59,771,211 (GRCm39) F928I probably damaging Het
Nyap2 T C 1: 81,219,435 (GRCm39) Y486H probably damaging Het
Oas1e T C 5: 120,933,470 (GRCm39) R32G probably damaging Het
Or14j2 A T 17: 37,885,836 (GRCm39) Y159* probably null Het
Or4k48 A G 2: 111,475,839 (GRCm39) F168L probably benign Het
Osbpl6 G A 2: 76,423,798 (GRCm39) R848Q probably damaging Het
Piezo2 G A 18: 63,157,546 (GRCm39) T2388I probably damaging Het
Prkdc A G 16: 15,600,951 (GRCm39) T2871A probably benign Het
Ptpn12 T C 5: 21,207,435 (GRCm39) K308E probably benign Het
Rgsl1 A G 1: 153,701,236 (GRCm39) L441P probably damaging Het
Rictor T C 15: 6,805,668 (GRCm39) probably null Het
Scn2a T A 2: 65,532,382 (GRCm39) S665T possibly damaging Het
Scn8a A G 15: 100,911,357 (GRCm39) I926V probably damaging Het
Snrpg T C 6: 86,353,510 (GRCm39) I30T probably damaging Het
Spryd3 A T 15: 102,027,425 (GRCm39) probably null Het
Svil A G 18: 5,114,531 (GRCm39) D2036G probably damaging Het
Synj2 A T 17: 6,067,868 (GRCm39) I551F probably damaging Het
Tiam2 A T 17: 3,489,971 (GRCm39) probably benign Het
Tmem132b T C 5: 125,864,639 (GRCm39) F915S probably damaging Het
Try5 C A 6: 41,288,342 (GRCm39) V204L probably benign Het
Vmn2r6 T C 3: 64,463,749 (GRCm39) T362A probably benign 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
IGL03004:Heatr6 APN 11 83,648,205 (GRCm39) missense probably benign 0.01
IGL03229:Heatr6 APN 11 83,672,271 (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 2015-04-16