Incidental Mutation 'IGL02956:Heatr1'
ID365108
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Heatr1
Ensembl Gene ENSMUSG00000050244
Gene NameHEAT repeat containing 1
SynonymsB130016L12Rik
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.966) question?
Stock #IGL02956
Quality Score
Status
Chromosome13
Chromosomal Location12395027-12440289 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 12416059 bp
ZygosityHeterozygous
Amino Acid Change Serine to Threonine at position 1012 (S1012T)
Ref Sequence ENSEMBL: ENSMUSP00000054084 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059270]
Predicted Effect possibly damaging
Transcript: ENSMUST00000059270
AA Change: S1012T

PolyPhen 2 Score 0.532 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000054084
Gene: ENSMUSG00000050244
AA Change: S1012T

DomainStartEndE-ValueType
low complexity region 4 15 N/A INTRINSIC
Pfam:U3snoRNP10 238 354 7e-30 PFAM
SCOP:d1qbkb_ 919 1795 3e-8 SMART
low complexity region 1805 1814 N/A INTRINSIC
BP28CT 1856 2009 2.25e-77 SMART
Blast:BP28CT 2015 2061 2e-15 BLAST
coiled coil region 2109 2137 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221746
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3830406C13Rik A G 14: 12,287,326 N29S probably benign Het
5830473C10Rik A G 5: 90,579,638 I372V possibly damaging Het
Adamts13 C T 2: 26,983,037 A339V probably benign Het
Adck2 T C 6: 39,576,502 V349A probably benign Het
Akna G T 4: 63,386,279 T546K probably benign Het
Ankrd29 T C 18: 12,260,936 K274E probably damaging Het
Apc2 A T 10: 80,306,375 N376I probably damaging Het
Cadps A G 14: 12,418,047 probably benign Het
Cbl T C 9: 44,169,034 T243A probably damaging Het
Cfap52 T C 11: 67,954,075 E56G probably benign Het
Chd5 C A 4: 152,379,956 P1561Q probably benign Het
Dscam A G 16: 96,801,272 S657P probably damaging Het
Ece1 T C 4: 137,962,838 F732L probably damaging Het
Eno2 T C 6: 124,763,119 D199G probably damaging Het
Enpp3 A G 10: 24,774,943 probably benign Het
Fbxl15 G T 19: 46,329,251 C124F probably damaging Het
Fermt3 T C 19: 7,002,344 S474G probably benign Het
Fkbp6 T C 5: 135,339,496 E252G probably damaging Het
Gm6625 A T 8: 89,147,039 noncoding transcript Het
Gnl1 T C 17: 35,987,612 I416T probably benign Het
Gp1bb C A 16: 18,620,925 A140S probably benign Het
Grin2c A G 11: 115,257,959 V271A possibly damaging Het
Ighv5-6 T A 12: 113,625,903 probably benign Het
Itga10 A G 3: 96,655,113 E737G possibly damaging Het
Lmod2 A C 6: 24,603,632 N202T probably damaging Het
Lrp1 C T 10: 127,544,559 V3908I probably benign Het
Lrrtm4 T C 6: 80,021,650 V15A probably benign Het
Mup4 A T 4: 59,959,263 D77E probably benign Het
Myh7b A T 2: 155,632,903 E1787V probably damaging Het
Myh7b T A 2: 155,625,954 M804K possibly damaging Het
Nup133 T C 8: 123,949,083 S32G probably benign Het
Olfr145 A G 9: 37,898,108 K235E probably damaging Het
Olfr159 T A 4: 43,770,399 N204I probably benign Het
Olfr648 T C 7: 104,180,127 I94V probably damaging Het
Olfr77 T C 9: 19,921,052 V281A possibly damaging Het
Polr2m T C 9: 71,483,629 D97G possibly damaging Het
Pou2f3 A G 9: 43,142,805 probably benign Het
Rex1bd C A 8: 70,505,902 V72F possibly damaging Het
Rgp1 A G 4: 43,581,505 T261A possibly damaging Het
Satb2 A G 1: 56,948,175 F84L probably damaging Het
Sec14l1 G A 11: 117,153,147 D494N probably benign Het
Spn G A 7: 127,137,260 T25M probably damaging Het
Trp73 G A 4: 154,064,463 probably benign Het
Tsc22d2 A G 3: 58,417,546 T620A unknown Het
Zfp276 T C 8: 123,254,744 L10P probably damaging Het
Zfp93 T A 7: 24,274,975 N128K probably benign Het
Other mutations in Heatr1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00666:Heatr1 APN 13 12410450 missense probably benign 0.00
IGL00863:Heatr1 APN 13 12435128 missense probably benign 0.02
IGL00899:Heatr1 APN 13 12435176 missense probably benign 0.31
IGL01147:Heatr1 APN 13 12437912 missense probably damaging 0.99
IGL01317:Heatr1 APN 13 12399027 missense probably damaging 1.00
IGL01323:Heatr1 APN 13 12398938 missense possibly damaging 0.86
IGL01625:Heatr1 APN 13 12413528 missense probably damaging 0.98
IGL01973:Heatr1 APN 13 12429799 missense probably benign
IGL02803:Heatr1 APN 13 12433986 missense probably damaging 0.96
IGL02830:Heatr1 APN 13 12426212 missense possibly damaging 0.57
IGL03000:Heatr1 APN 13 12434411 missense probably damaging 0.99
IGL03024:Heatr1 APN 13 12407509 unclassified probably benign
IGL03035:Heatr1 APN 13 12413219 splice site probably benign
IGL03301:Heatr1 APN 13 12434205 missense probably damaging 1.00
hasan UTSW 13 12417447 splice site probably benign
H8562:Heatr1 UTSW 13 12408713 missense probably benign 0.13
R0226:Heatr1 UTSW 13 12410562 missense probably damaging 1.00
R0571:Heatr1 UTSW 13 12430240 missense probably damaging 0.98
R0722:Heatr1 UTSW 13 12406037 missense probably benign 0.14
R1264:Heatr1 UTSW 13 12424610 unclassified probably benign
R1371:Heatr1 UTSW 13 12417632 missense possibly damaging 0.80
R1388:Heatr1 UTSW 13 12417447 splice site probably benign
R1396:Heatr1 UTSW 13 12406046 missense possibly damaging 0.86
R1519:Heatr1 UTSW 13 12412159 missense probably benign
R1689:Heatr1 UTSW 13 12424625 missense probably benign 0.00
R1696:Heatr1 UTSW 13 12423721 missense possibly damaging 0.96
R1756:Heatr1 UTSW 13 12396460 missense probably benign 0.01
R1859:Heatr1 UTSW 13 12403159 missense probably damaging 1.00
R1932:Heatr1 UTSW 13 12435185 missense probably damaging 1.00
R1957:Heatr1 UTSW 13 12396538 missense probably damaging 1.00
R2018:Heatr1 UTSW 13 12414478 missense possibly damaging 0.68
R2106:Heatr1 UTSW 13 12412058 missense probably benign 0.03
R2119:Heatr1 UTSW 13 12432646 missense probably null 1.00
R2121:Heatr1 UTSW 13 12403264 missense probably benign 0.10
R2122:Heatr1 UTSW 13 12403264 missense probably benign 0.10
R2367:Heatr1 UTSW 13 12433724 missense probably damaging 1.00
R3777:Heatr1 UTSW 13 12413348 missense possibly damaging 0.92
R3783:Heatr1 UTSW 13 12434460 missense probably damaging 1.00
R3784:Heatr1 UTSW 13 12434460 missense probably damaging 1.00
R3786:Heatr1 UTSW 13 12434460 missense probably damaging 1.00
R3787:Heatr1 UTSW 13 12434460 missense probably damaging 1.00
R3843:Heatr1 UTSW 13 12435121 missense probably benign 0.00
R4533:Heatr1 UTSW 13 12434511 missense probably benign 0.05
R4725:Heatr1 UTSW 13 12424662 nonsense probably null
R4763:Heatr1 UTSW 13 12430930 missense possibly damaging 0.65
R4793:Heatr1 UTSW 13 12431837 missense probably benign 0.00
R4797:Heatr1 UTSW 13 12412048 missense probably benign 0.36
R4798:Heatr1 UTSW 13 12412048 missense probably benign 0.36
R4942:Heatr1 UTSW 13 12413510 critical splice acceptor site probably null
R4952:Heatr1 UTSW 13 12410599 missense probably benign 0.38
R4954:Heatr1 UTSW 13 12407516 critical splice acceptor site probably null
R5370:Heatr1 UTSW 13 12401522 missense probably benign 0.02
R5464:Heatr1 UTSW 13 12433643 missense probably benign 0.00
R5483:Heatr1 UTSW 13 12398914 missense probably damaging 1.00
R5497:Heatr1 UTSW 13 12421064 missense possibly damaging 0.93
R5504:Heatr1 UTSW 13 12406619 missense possibly damaging 0.64
R5527:Heatr1 UTSW 13 12402760 missense probably damaging 1.00
R5527:Heatr1 UTSW 13 12404948 missense probably benign
R5836:Heatr1 UTSW 13 12408736 missense probably damaging 0.99
R5916:Heatr1 UTSW 13 12434471 missense probably damaging 1.00
R6018:Heatr1 UTSW 13 12404947 missense probably benign
R6018:Heatr1 UTSW 13 12406058 missense probably benign 0.26
R6216:Heatr1 UTSW 13 12432664 missense probably benign 0.16
R6396:Heatr1 UTSW 13 12406097 missense possibly damaging 0.86
R6472:Heatr1 UTSW 13 12434230 missense probably benign 0.29
R6922:Heatr1 UTSW 13 12435075 missense probably benign 0.00
R7077:Heatr1 UTSW 13 12418164 missense possibly damaging 0.63
R7297:Heatr1 UTSW 13 12421060 nonsense probably null
R7445:Heatr1 UTSW 13 12431038 missense possibly damaging 0.70
R7669:Heatr1 UTSW 13 12411262 missense probably benign 0.33
R7672:Heatr1 UTSW 13 12438664 missense probably damaging 0.96
R7772:Heatr1 UTSW 13 12417641 missense probably benign 0.03
RF011:Heatr1 UTSW 13 12407544 missense probably benign 0.00
Z1176:Heatr1 UTSW 13 12399008 missense possibly damaging 0.68
Posted On2015-12-18