Incidental Mutation 'IGL02313:Heatr6'
ID287891
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Heatr6
Ensembl Gene ENSMUSG00000000976
Gene NameHEAT repeat containing 6
Synonyms
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.808) question?
Stock #IGL02313
Quality Score
Status
Chromosome11
Chromosomal Location83753696-83783754 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 83778892 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Proline at position 910 (L910P)
Ref Sequence ENSEMBL: ENSMUSP00000001002 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001002]
Predicted Effect probably damaging
Transcript: ENSMUST00000001002
AA Change: L910P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000001002
Gene: ENSMUSG00000000976
AA Change: L910P

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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd13c T A 3: 157,947,934 N136K probably damaging Het
Aph1b A T 9: 66,790,673 probably benign Het
Atf7ip A G 6: 136,606,720 K1250E probably damaging Het
Atp8b2 T C 3: 89,949,853 N400S probably damaging Het
Brca2 C A 5: 150,538,661 S630Y probably damaging Het
Chd6 T A 2: 160,965,675 E1873V probably damaging Het
Chrna10 T C 7: 102,112,029 probably benign Het
Col6a3 A G 1: 90,811,606 L907P probably damaging Het
Cxcr6 A G 9: 123,810,705 N264S probably damaging Het
Dgkg A G 16: 22,570,230 probably benign Het
Dpysl2 T G 14: 66,824,390 M256L probably benign Het
Dsp G T 13: 38,196,523 E1816* probably null Het
Fam129c A G 8: 71,602,860 R305G possibly damaging Het
Fam13b T C 18: 34,454,656 K530E probably damaging Het
Fam49a A G 12: 12,364,751 T248A possibly damaging Het
Fastk T C 5: 24,443,092 H242R probably damaging Het
Fbxw28 A T 9: 109,337,352 H145Q possibly damaging Het
Hmcn2 A G 2: 31,453,605 T4642A possibly damaging Het
Hspg2 A G 4: 137,508,389 T167A probably benign Het
Igsf10 A G 3: 59,330,690 L690P probably benign Het
Klhdc10 G A 6: 30,439,866 probably null Het
Krt31 A G 11: 100,048,396 Y232H probably damaging Het
Lsm3 A G 6: 91,516,088 probably benign Het
Mfn2 T A 4: 147,885,490 I375F probably damaging Het
Mfrp A T 9: 44,102,874 I180F probably damaging Het
Msh3 T C 13: 92,349,312 E168G possibly damaging Het
Naa16 A T 14: 79,384,668 V77D probably damaging Het
Nav2 T C 7: 49,558,773 S1570P probably damaging Het
Numa1 C T 7: 102,000,232 R1057* probably null Het
Nup210l G A 3: 90,122,792 A271T probably damaging Het
Ogdh T C 11: 6,355,400 V965A probably damaging Het
Olfr63 C A 17: 33,269,665 Q314K probably benign Het
Olfr734 A T 14: 50,320,016 V273E probably damaging Het
Olfr818 A G 10: 129,945,903 L53P probably damaging Het
Olfr836 A T 9: 19,121,375 N140I probably damaging Het
Olfr916 T A 9: 38,658,066 I109F probably damaging Het
Pdp2 A T 8: 104,594,899 Q460L probably benign Het
Pex5l T C 3: 32,992,992 T270A probably benign Het
Pkp4 C T 2: 59,310,254 Q435* probably null Het
Prss32 G A 17: 23,856,122 V149M probably benign Het
Riox2 C A 16: 59,489,417 P378Q probably benign Het
Rita1 C T 5: 120,609,793 A147T probably damaging Het
Rsph4a T A 10: 33,905,525 S124T possibly damaging Het
Sdccag8 G A 1: 176,824,755 R24H possibly damaging Het
Slc22a1 C A 17: 12,675,500 G54* probably null Het
Slc24a5 C T 2: 125,085,647 probably benign Het
Tex101 C T 7: 24,668,325 V201M probably damaging Het
Tmprss7 T C 16: 45,681,593 Y223C probably damaging Het
Trpc4ap T C 2: 155,650,468 E382G probably damaging Het
Uggt1 A T 1: 36,184,484 Y575N probably damaging Het
Vmn2r70 T C 7: 85,565,168 I259V probably damaging Het
Xpo1 T A 11: 23,277,065 N131K probably damaging Het
Zfp579 C T 7: 4,994,433 V160M probably benign Het
Zfp697 A G 3: 98,425,450 D64G probably benign Het
Zfp974 T C 7: 27,912,253 T16A possibly damaging Het
Other mutations in Heatr6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00971:Heatr6 APN 11 83759309 missense probably damaging 1.00
IGL01681:Heatr6 APN 11 83765000 missense probably benign 0.08
IGL01905:Heatr6 APN 11 83781712 missense probably benign 0.06
IGL02037:Heatr6 APN 11 83764882 splice site probably benign
IGL02652:Heatr6 APN 11 83769732 missense probably damaging 1.00
IGL03004:Heatr6 APN 11 83757379 missense probably benign 0.01
IGL03229:Heatr6 APN 11 83781445 missense probably benign 0.01
IGL03386:Heatr6 APN 11 83759377 missense probably damaging 1.00
IGL02802:Heatr6 UTSW 11 83760936 missense probably damaging 1.00
R0537:Heatr6 UTSW 11 83779464 nonsense probably null
R1658:Heatr6 UTSW 11 83758367 missense probably damaging 1.00
R1864:Heatr6 UTSW 11 83769230 missense probably damaging 0.97
R1893:Heatr6 UTSW 11 83757314 missense probably benign 0.33
R1944:Heatr6 UTSW 11 83769220 missense probably damaging 1.00
R2115:Heatr6 UTSW 11 83757455 unclassified probably benign
R3019:Heatr6 UTSW 11 83778832 splice site probably null
R4050:Heatr6 UTSW 11 83755773 missense probably damaging 0.99
R4532:Heatr6 UTSW 11 83769672 missense probably damaging 1.00
R4576:Heatr6 UTSW 11 83765000 missense probably benign 0.08
R4724:Heatr6 UTSW 11 83779548 nonsense probably null
R4825:Heatr6 UTSW 11 83758322 missense probably damaging 1.00
R5489:Heatr6 UTSW 11 83774432 missense probably damaging 1.00
R5970:Heatr6 UTSW 11 83753718 unclassified probably benign
R6136:Heatr6 UTSW 11 83772503 missense possibly damaging 0.94
R6145:Heatr6 UTSW 11 83766136 missense probably damaging 1.00
R6649:Heatr6 UTSW 11 83759365 missense probably benign 0.01
R6653:Heatr6 UTSW 11 83759365 missense probably benign 0.01
R6791:Heatr6 UTSW 11 83758341 missense probably benign
R6865:Heatr6 UTSW 11 83769140 missense probably damaging 1.00
R7154:Heatr6 UTSW 11 83777241 missense probably benign 0.05
R7385:Heatr6 UTSW 11 83759335 missense probably damaging 0.96
R7473:Heatr6 UTSW 11 83781391 missense probably damaging 1.00
R8034:Heatr6 UTSW 11 83753909 missense probably benign 0.01
X0014:Heatr6 UTSW 11 83781250 missense probably damaging 0.97
Z1177:Heatr6 UTSW 11 83766081 missense probably benign 0.00
Z1177:Heatr6 UTSW 11 83781382 missense probably damaging 1.00
Posted On2015-04-16