Incidental Mutation 'R5506:Heatr9'
ID 430934
Institutional Source Beutler Lab
Gene Symbol Heatr9
Ensembl Gene ENSMUSG00000018925
Gene Name HEAT repeat containing 9
Synonyms Gm11435
MMRRC Submission 043067-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.083) question?
Stock # R5506 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 83402562-83413001 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 83405592 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 317 (N317S)
Ref Sequence ENSEMBL: ENSMUSP00000019069 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019069]
AlphaFold Q5QNV8
Predicted Effect possibly damaging
Transcript: ENSMUST00000019069
AA Change: N317S

PolyPhen 2 Score 0.862 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000019069
Gene: ENSMUSG00000018925
AA Change: N317S

DomainStartEndE-ValueType
SCOP:d1gw5a_ 111 461 2e-13 SMART
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 98.3%
  • 3x: 97.3%
  • 10x: 95.4%
  • 20x: 91.4%
Validation Efficiency 100% (53/53)
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik G T 3: 137,773,708 (GRCm39) G966W probably damaging Het
A930009A15Rik G T 10: 115,414,267 (GRCm39) probably null Het
Cant1 G T 11: 118,302,268 (GRCm39) H16Q probably benign Het
Capn3 G T 2: 120,332,901 (GRCm39) V612F probably damaging Het
Cep112 A T 11: 108,555,429 (GRCm39) E141D probably damaging Het
Cept1 A G 3: 106,438,564 (GRCm39) V173A probably benign Het
CN725425 A G 15: 91,120,029 (GRCm39) D50G possibly damaging Het
Cubn A T 2: 13,496,506 (GRCm39) probably null Het
Dnajb12 GC G 10: 59,728,574 (GRCm39) probably null Het
Dpp8 A G 9: 64,985,391 (GRCm39) probably null Het
Ecm1 G A 3: 95,643,169 (GRCm39) T377I probably benign Het
Exosc8 A G 3: 54,638,600 (GRCm39) probably benign Het
Fasn C T 11: 120,700,336 (GRCm39) D2165N probably benign Het
Gab2 A G 7: 96,952,320 (GRCm39) E571G probably damaging Het
Galnt5 C A 2: 57,889,637 (GRCm39) H412Q probably benign Het
Galr1 T A 18: 82,423,989 (GRCm39) Y96F possibly damaging Het
Garin1b G A 6: 29,319,297 (GRCm39) E34K probably damaging Het
Gnl2 C A 4: 124,949,158 (GRCm39) probably benign Het
H2ac22 A C 13: 21,971,081 (GRCm39) I103S probably damaging Het
H2ax T C 9: 44,246,402 (GRCm39) V115A probably benign Het
Kndc1 A G 7: 139,507,804 (GRCm39) Y1254C probably damaging Het
Lrp6 A T 6: 134,436,259 (GRCm39) D1302E probably benign Het
Mc2r A T 18: 68,541,019 (GRCm39) Y91* probably null Het
Meis1 T G 11: 18,891,747 (GRCm39) D267A possibly damaging Het
Mki67 T C 7: 135,301,710 (GRCm39) K1108R possibly damaging Het
Mroh2a A G 1: 88,186,386 (GRCm39) S64G probably benign Het
Myh3 T G 11: 66,974,915 (GRCm39) D219E probably damaging Het
Niban2 G A 2: 32,810,994 (GRCm39) V335M probably damaging Het
Or10g1b T C 14: 52,628,084 (GRCm39) I49V probably damaging Het
Or7e166 T C 9: 19,624,570 (GRCm39) L149P possibly damaging Het
Pi4ka A G 16: 17,111,817 (GRCm39) C1553R probably damaging Het
Plekhb1 C A 7: 100,294,150 (GRCm39) probably null Het
Polr3d A T 14: 70,678,199 (GRCm39) D165E possibly damaging Het
Prb1c T C 6: 132,338,819 (GRCm39) N133S unknown Het
Psmb1 A G 17: 15,710,478 (GRCm39) Y24H probably damaging Het
Rab11fip5 A G 6: 85,351,119 (GRCm39) L131P probably damaging Het
Raph1 A T 1: 60,532,657 (GRCm39) probably benign Het
Rmc1 A G 18: 12,322,013 (GRCm39) probably benign Het
Scgb2b27 T G 7: 33,711,484 (GRCm39) probably benign Het
Serpina10 T C 12: 103,592,920 (GRCm39) D264G probably damaging Het
Sftpb A G 6: 72,281,651 (GRCm39) T15A possibly damaging Het
Slc20a1 T C 2: 129,052,739 (GRCm39) F674L probably benign Het
Syne2 A T 12: 75,985,495 (GRCm39) N1648Y probably benign Het
Thsd7a G T 6: 12,332,016 (GRCm39) N1265K possibly damaging Het
Trem2 T C 17: 48,658,802 (GRCm39) L189P probably benign Het
Washc4 A T 10: 83,417,201 (GRCm39) R865S probably damaging Het
Zfp536 A G 7: 37,268,217 (GRCm39) S400P probably damaging Het
Other mutations in Heatr9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02160:Heatr9 APN 11 83,409,651 (GRCm39) missense probably benign 0.00
IGL02832:Heatr9 APN 11 83,409,672 (GRCm39) splice site probably benign
IGL03325:Heatr9 APN 11 83,404,085 (GRCm39) splice site probably null
R0084:Heatr9 UTSW 11 83,403,721 (GRCm39) splice site probably benign
R0243:Heatr9 UTSW 11 83,404,164 (GRCm39) missense possibly damaging 0.69
R0326:Heatr9 UTSW 11 83,405,365 (GRCm39) missense probably damaging 1.00
R0589:Heatr9 UTSW 11 83,405,516 (GRCm39) splice site probably benign
R1386:Heatr9 UTSW 11 83,409,651 (GRCm39) missense probably benign 0.00
R1914:Heatr9 UTSW 11 83,409,035 (GRCm39) missense possibly damaging 0.74
R1915:Heatr9 UTSW 11 83,409,035 (GRCm39) missense possibly damaging 0.74
R4078:Heatr9 UTSW 11 83,403,254 (GRCm39) missense probably benign 0.24
R4756:Heatr9 UTSW 11 83,407,475 (GRCm39) missense probably damaging 1.00
R4789:Heatr9 UTSW 11 83,410,018 (GRCm39) missense probably benign 0.06
R4999:Heatr9 UTSW 11 83,409,618 (GRCm39) missense possibly damaging 0.93
R5060:Heatr9 UTSW 11 83,403,258 (GRCm39) missense probably benign 0.20
R5874:Heatr9 UTSW 11 83,405,426 (GRCm39) missense probably benign 0.36
R5922:Heatr9 UTSW 11 83,403,193 (GRCm39) critical splice donor site probably null
R6322:Heatr9 UTSW 11 83,407,538 (GRCm39) missense possibly damaging 0.51
R7007:Heatr9 UTSW 11 83,411,446 (GRCm39) missense possibly damaging 0.85
R7431:Heatr9 UTSW 11 83,410,094 (GRCm39) missense probably damaging 1.00
R7790:Heatr9 UTSW 11 83,409,019 (GRCm39) missense probably damaging 1.00
R7911:Heatr9 UTSW 11 83,403,234 (GRCm39) missense probably damaging 1.00
R8154:Heatr9 UTSW 11 83,402,703 (GRCm39) missense possibly damaging 0.87
R9248:Heatr9 UTSW 11 83,409,281 (GRCm39) missense possibly damaging 0.80
Predicted Primers PCR Primer
(F):5'- GTAAGTTTCACCAGCCCCTG -3'
(R):5'- GTGTGCACACATCCACTTG -3'

Sequencing Primer
(F):5'- CAACAGTCTTGAGCATCTGGG -3'
(R):5'- GTGCTCTCATTCCAAAGGCCAAG -3'
Posted On 2016-10-05