Incidental Mutation 'R8034:Heatr6'
ID 618142
Institutional Source Beutler Lab
Gene Symbol Heatr6
Ensembl Gene ENSMUSG00000000976
Gene Name HEAT repeat containing 6
Synonyms 2700008B19Rik
MMRRC Submission 067471-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.886) question?
Stock # R8034 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 83644522-83674580 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 83644735 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 63 (N63D)
Ref Sequence ENSEMBL: ENSMUSP00000001002 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001002] [ENSMUST00000070832]
AlphaFold Q6P1G0
Predicted Effect probably benign
Transcript: ENSMUST00000001002
AA Change: N63D

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000001002
Gene: ENSMUSG00000000976
AA Change: N63D

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 probably benign
Transcript: ENSMUST00000070832
SMART Domains Protein: ENSMUSP00000064479
Gene: ENSMUSG00000051748

DomainStartEndE-ValueType
low complexity region 7 17 N/A INTRINSIC
Blast:WAP 23 63 4e-15 BLAST
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arap1 A G 7: 101,043,980 (GRCm39) T680A probably damaging Het
Asb3 C A 11: 31,031,554 (GRCm39) Y391* probably null Het
Bean1 CT C 8: 104,908,664 (GRCm39) probably null Het
Ccdc80 A G 16: 44,943,238 (GRCm39) I783V probably damaging Het
Ccnf A G 17: 24,450,805 (GRCm39) V391A probably damaging Het
Cd5l C A 3: 87,273,271 (GRCm39) A80E possibly damaging Het
Chmp2b A T 16: 65,343,769 (GRCm39) M96K probably benign Het
Cspg4b A T 13: 113,479,045 (GRCm39) I1530F Het
Dennd4a T C 9: 64,795,850 (GRCm39) S725P probably benign Het
Dnah6 T C 6: 73,106,208 (GRCm39) N1843S probably damaging Het
Dpy19l3 A G 7: 35,449,281 (GRCm39) F41L probably benign Het
Eif3e A T 15: 43,135,703 (GRCm39) M112K probably benign Het
Faim T C 9: 98,874,786 (GRCm39) V111A possibly damaging Het
Fat1 A G 8: 45,404,728 (GRCm39) E493G probably benign Het
Fsip2 A G 2: 82,819,699 (GRCm39) D5144G possibly damaging Het
Fuz T C 7: 44,545,684 (GRCm39) M1T probably null Het
Ggcx T C 6: 72,405,587 (GRCm39) V529A possibly damaging Het
Gm7145 A T 1: 117,913,894 (GRCm39) T259S probably benign Het
Gria2 T G 3: 80,709,006 (GRCm39) T59P probably damaging Het
H2-Q10 A T 17: 35,781,338 (GRCm39) I47F probably damaging Het
Ints7 CCGGATCG CCGGATCGGATCG 1: 191,345,180 (GRCm39) probably null Het
Ints7 GATCG GATCGTATCG 1: 191,345,183 (GRCm39) probably null Het
Lcn6 T A 2: 25,566,883 (GRCm39) L19* probably null Het
Lhcgr T C 17: 89,049,784 (GRCm39) T581A probably damaging Het
Map4k1 T C 7: 28,687,573 (GRCm39) I203T probably damaging Het
Mctp1 G C 13: 77,039,670 (GRCm39) L783F probably damaging Het
Mlf1 A T 3: 67,291,921 (GRCm39) M29L probably damaging Het
Npas3 T A 12: 53,687,312 (GRCm39) I159N probably damaging Het
Nup98 T C 7: 101,794,930 (GRCm39) probably null Het
Or4a39 A G 2: 89,237,081 (GRCm39) V114A probably benign Het
Or4m1 T C 14: 50,558,023 (GRCm39) K90E probably damaging Het
Or51h5 A T 7: 102,577,773 (GRCm39) K313* probably null Het
Or5b110-ps1 A G 19: 13,260,215 (GRCm39) F69S probably damaging Het
Or7d11 A G 9: 19,966,301 (GRCm39) F35L probably benign Het
Or8b41 T C 9: 38,054,973 (GRCm39) Y176H probably damaging Het
Otud3 T C 4: 138,623,111 (GRCm39) S377G probably benign Het
Pclo T A 5: 14,571,214 (GRCm39) S200T probably damaging Het
Pex6 G C 17: 47,033,325 (GRCm39) G616A possibly damaging Het
Pkhd1 T A 1: 20,451,662 (GRCm39) H2211L possibly damaging Het
Sec13 T C 6: 113,712,050 (GRCm39) K95R probably benign Het
Sema3c T C 5: 17,932,480 (GRCm39) V661A probably damaging Het
Sema5a A G 15: 32,574,987 (GRCm39) Y365C probably damaging Het
Sp140l2 T A 1: 85,231,881 (GRCm39) T180S probably benign Het
Sprr2h A T 3: 92,294,120 (GRCm39) E61V unknown Het
Tead3 A C 17: 28,552,203 (GRCm39) V365G probably damaging Het
Trpm7 T A 2: 126,688,119 (GRCm39) N236I probably damaging Het
Ubxn2b A G 4: 6,191,167 (GRCm39) E13G probably benign Het
Zfp639 C A 3: 32,574,215 (GRCm39) A280E 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
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
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
Predicted Primers PCR Primer
(F):5'- TTTCCGGAACTGGAGCACAC -3'
(R):5'- AGCTTTCAGATGGAGGGCAG -3'

Sequencing Primer
(F):5'- CTTTCTCACGGAGGAAAAATGGC -3'
(R):5'- CAGAGAGATATGGCACGGACC -3'
Posted On 2020-01-23