Incidental Mutation 'IGL02803:Heatr1'
ID360293
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: 0.979) question?
Stock #IGL02803
Quality Score
Status
Chromosome13
Chromosomal Location12395027-12440289 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 12433986 bp
ZygosityHeterozygous
Amino Acid Change Serine to Threonine at position 1861 (S1861T)
Ref Sequence ENSEMBL: ENSMUSP00000054084 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059270]
Predicted Effect probably damaging
Transcript: ENSMUST00000059270
AA Change: S1861T

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000054084
Gene: ENSMUSG00000050244
AA Change: S1861T

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: ENSMUST00000221051
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221616
Predicted Effect unknown
Transcript: ENSMUST00000222091
AA Change: S461T
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agmo C T 12: 37,252,481 L106F probably benign Het
Appl1 A G 14: 26,951,516 I208T possibly damaging Het
Arap2 G T 5: 62,749,109 A189D probably benign Het
Arhgef12 T C 9: 42,972,028 K1402E possibly damaging Het
C7 A C 15: 5,049,560 F89V probably damaging Het
Camsap2 G A 1: 136,281,123 T877I probably damaging Het
Cpt2 T C 4: 107,907,386 T394A probably benign Het
Csnk2a1 G T 2: 152,274,085 probably benign Het
Dnah10 C A 5: 124,798,014 T2528N probably damaging Het
Entpd8 G T 2: 25,085,139 W494L probably damaging Het
Fam114a1 T A 5: 65,005,792 probably benign Het
Fat4 T C 3: 38,889,295 V779A probably damaging Het
Gckr T C 5: 31,298,204 S34P probably damaging Het
Golga4 T C 9: 118,535,460 V297A probably benign Het
Gpr65 T C 12: 98,275,210 S41P probably damaging Het
Gps1 G T 11: 120,786,823 A221S probably damaging Het
Hmces A G 6: 87,925,729 E184G probably damaging Het
Itfg1 T C 8: 85,725,511 probably null Het
Mkl2 C T 16: 13,403,156 T743I possibly damaging Het
Nfe2l3 A G 6: 51,457,311 S284G possibly damaging Het
Nlrp2 C A 7: 5,328,318 A360S probably damaging Het
Nop9 A G 14: 55,750,076 H298R probably benign Het
Olfr1434 A T 19: 12,283,983 S312C possibly damaging Het
Olfr183 T A 16: 58,999,958 V91E probably benign Het
Olfr522 T C 7: 140,162,374 D192G possibly damaging Het
Osgin1 A G 8: 119,443,267 M158V probably benign Het
Patj C A 4: 98,426,064 Q374K probably damaging Het
Pck1 G T 2: 173,156,004 G289W probably damaging Het
Phkg1 T G 5: 129,866,054 I219L possibly damaging Het
Ppp1r15b G A 1: 133,133,343 A533T probably damaging Het
Ppwd1 T C 13: 104,213,684 I398V probably benign Het
Prkdc A G 16: 15,833,666 probably benign Het
Psg25 G A 7: 18,526,287 L229F possibly damaging Het
Rps6ka1 T A 4: 133,880,954 Q24L probably benign Het
Sgk3 T C 1: 9,879,048 I147T possibly damaging Het
Slc25a24 T A 3: 109,155,071 I159N probably damaging Het
Slc26a4 T C 12: 31,522,527 probably null Het
Slc35f4 T C 14: 49,304,257 I347V probably benign Het
Spag17 A T 3: 100,109,397 M2163L probably benign Het
Stab2 C T 10: 86,950,269 probably benign Het
Sult2a8 G A 7: 14,411,705 probably benign Het
Syne2 T C 12: 76,031,546 L4718P probably damaging Het
Timd4 G T 11: 46,815,694 G108W probably damaging Het
Timm9 T C 12: 71,126,374 probably benign Het
Vmn2r98 G A 17: 19,066,013 V258I probably benign Het
Zcchc9 C T 13: 91,800,881 V174I probably benign Het
Zdbf2 T C 1: 63,303,077 V205A possibly damaging 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
IGL02830:Heatr1 APN 13 12426212 missense possibly damaging 0.57
IGL02956:Heatr1 APN 13 12416059 missense possibly damaging 0.53
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
Posted On2015-12-18