Incidental Mutation 'IGL01625:Heatr1'
ID92708
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 #IGL01625
Quality Score
Status
Chromosome13
Chromosomal Location12395027-12440289 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 12413528 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Lysine at position 814 (N814K)
Ref Sequence ENSEMBL: ENSMUSP00000054084 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059270]
Predicted Effect probably damaging
Transcript: ENSMUST00000059270
AA Change: N814K

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000054084
Gene: ENSMUSG00000050244
AA Change: N814K

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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700018F24Rik T A 5: 145,043,147 H37Q possibly damaging Het
2210010C04Rik A C 6: 41,032,948 S151A probably benign Het
Akr1c19 T A 13: 4,233,817 I16N probably damaging Het
Arpc1b T C 5: 145,121,745 probably null Het
Bzw1 A G 1: 58,401,440 T191A probably benign Het
Cacna1h T C 17: 25,383,485 D1523G probably damaging Het
Cacna1h G A 17: 25,385,712 T1209I possibly damaging Het
Cdc20b T C 13: 113,059,785 L148P possibly damaging Het
Cubn A G 2: 13,306,274 F3147L possibly damaging Het
Dagla A G 19: 10,251,202 probably benign Het
Dnah9 T C 11: 66,044,645 N1983D probably damaging Het
Fbxw10 G A 11: 62,860,027 D479N probably damaging Het
Fer A T 17: 64,037,626 Q630L probably damaging Het
Gbp5 A G 3: 142,503,028 N111D probably damaging Het
Gm8127 T G 14: 43,291,063 probably benign Het
Iba57 G A 11: 59,158,949 R191W probably damaging Het
Itgae C A 11: 73,119,437 F584L probably benign Het
Kdm5b A G 1: 134,617,968 K956E possibly damaging Het
Muc4 C T 16: 32,755,544 probably benign Het
Mybpc2 T C 7: 44,516,913 K218E possibly damaging Het
Pcdh10 T C 3: 45,379,397 S49P probably damaging Het
Rai14 T C 15: 10,572,374 D889G probably benign Het
Rbpjl A G 2: 164,407,785 K102R possibly damaging Het
Retreg2 A G 1: 75,144,715 probably benign Het
Rfc4 A T 16: 23,115,823 L149Q probably damaging Het
Rft1 T A 14: 30,676,896 D274E possibly damaging Het
Rlf A T 4: 121,188,260 S143R possibly damaging Het
Rptn T A 3: 93,397,894 S845T probably benign Het
Slamf8 C A 1: 172,582,482 D267Y probably damaging Het
Smoc2 C T 17: 14,325,614 S55L probably damaging Het
Sptan1 C T 2: 30,026,114 A2038V probably damaging Het
Stx17 C A 4: 48,181,526 P210T probably damaging Het
Tbc1d5 A G 17: 50,917,573 Y317H probably benign Het
Tenm4 C A 7: 96,885,358 T1737N probably damaging Het
Tesk2 T C 4: 116,771,801 F116L possibly damaging Het
Tln2 T C 9: 67,370,623 S370G probably damaging Het
Tm6sf2 G T 8: 70,076,083 G162C probably null Het
Togaram2 A C 17: 71,714,698 E718D probably benign Het
Ttn A C 2: 76,747,983 F15862V probably damaging Het
Uba6 T A 5: 86,120,529 R916* probably null Het
Umodl1 A G 17: 30,996,255 M1018V probably benign Het
Wdr26 G A 1: 181,191,816 T332I possibly damaging Het
Xdh A T 17: 73,916,786 probably null 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
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
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
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 On2013-12-09