Incidental Mutation 'R1519:Heatr1'
ID 167315
Institutional Source Beutler Lab
Gene Symbol Heatr1
Ensembl Gene ENSMUSG00000050244
Gene Name HEAT repeat containing 1
Synonyms B130016L12Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.971) question?
Stock # R1519 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 12395027-12440289 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 12412159 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Cysteine to Arginine at position 722 (C722R)
Ref Sequence ENSEMBL: ENSMUSP00000054084 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059270]
AlphaFold G3X9B1
Predicted Effect probably benign
Transcript: ENSMUST00000059270
AA Change: C722R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000054084
Gene: ENSMUSG00000050244
AA Change: C722R

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
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.4%
  • 20x: 92.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017N19Rik C G 10: 100,603,528 (GRCm38) P187R probably damaging Het
9230019H11Rik A G 10: 3,125,230 (GRCm38) noncoding transcript Het
9530077C05Rik T G 9: 22,430,375 (GRCm38) L114R probably benign Het
Abhd5 T C 9: 122,379,014 (GRCm38) probably null Het
Acadvl A G 11: 70,014,791 (GRCm38) probably null Het
Actn1 T C 12: 80,205,078 (GRCm38) E75G probably damaging Het
Adam4 A T 12: 81,420,877 (GRCm38) N323K possibly damaging Het
Anks6 G A 4: 47,027,152 (GRCm38) R689W probably damaging Het
Anxa2 T C 9: 69,485,241 (GRCm38) I124T probably damaging Het
Aph1c T C 9: 66,833,265 (GRCm38) T10A probably benign Het
Arhgap40 T A 2: 158,546,801 (GRCm38) W552R probably benign Het
Baz2b C T 2: 59,948,254 (GRCm38) R754H possibly damaging Het
Blmh A G 11: 76,966,781 (GRCm38) Y147C probably damaging Het
C1galt1 C T 6: 7,866,402 (GRCm38) L83F probably damaging Het
Cd163l1 G A 7: 140,228,156 (GRCm38) V747I probably benign Het
Cdh23 A T 10: 60,379,343 (GRCm38) Y1403N possibly damaging Het
Cic A T 7: 25,293,810 (GRCm38) probably null Het
Coro1b T A 19: 4,150,584 (GRCm38) V200D possibly damaging Het
Csl T A 10: 99,757,955 (GRCm38) E416V probably damaging Het
Cyp3a25 A G 5: 146,001,447 (GRCm38) probably null Het
Dennd2d T A 3: 106,492,559 (GRCm38) F266Y probably damaging Het
Dnah10 A G 5: 124,760,952 (GRCm38) E1072G probably damaging Het
Dnah6 T A 6: 73,049,048 (GRCm38) K3435N probably damaging Het
Dnah9 G A 11: 65,881,761 (GRCm38) A3715V probably damaging Het
Fam186a G A 15: 99,947,655 (GRCm38) S236L unknown Het
Fam198b A G 3: 79,941,464 (GRCm38) N506D possibly damaging Het
Frs3 A G 17: 47,702,978 (GRCm38) T199A probably benign Het
Fsd1 A G 17: 55,993,870 (GRCm38) N243S probably benign Het
Gabra5 A C 7: 57,408,893 (GRCm38) L369R probably benign Het
Gins4 A G 8: 23,234,776 (GRCm38) V54A probably benign Het
Gli1 T C 10: 127,334,269 (GRCm38) E339G possibly damaging Het
Gm12185 A G 11: 48,907,767 (GRCm38) V633A probably damaging Het
Gm8251 A G 1: 44,056,970 (GRCm38) V1656A probably benign Het
Gm8765 G A 13: 50,700,407 (GRCm38) probably null Het
Gpr83 T A 9: 14,868,197 (GRCm38) C182S probably null Het
Gspt1 A G 16: 11,220,855 (GRCm38) V627A probably damaging Het
Jak1 C T 4: 101,162,922 (GRCm38) R680Q probably damaging Het
Kif2c A G 4: 117,169,940 (GRCm38) V287A probably damaging Het
Kmo A G 1: 175,656,802 (GRCm38) E366G probably damaging Het
Kmo C T 1: 175,651,618 (GRCm38) P240L possibly damaging Het
Lepr A T 4: 101,789,344 (GRCm38) N824I probably damaging Het
Lyrm7 T A 11: 54,848,599 (GRCm38) H75L possibly damaging Het
Map4k1 A T 7: 28,991,036 (GRCm38) Q351L probably benign Het
Mgam T C 6: 40,661,683 (GRCm38) I450T probably benign Het
Nbeal2 A G 9: 110,636,305 (GRCm38) L955P probably damaging Het
Nlrp9c T C 7: 26,378,101 (GRCm38) K752R possibly damaging Het
Nsmaf A T 4: 6,438,062 (GRCm38) I70K probably benign Het
Olfr201 C T 16: 59,268,944 (GRCm38) C241Y probably damaging Het
Olfr298 A G 7: 86,489,125 (GRCm38) M142T probably damaging Het
Otud7a A G 7: 63,758,643 (GRCm38) Y898C probably damaging Het
Pcdhb18 A C 18: 37,490,892 (GRCm38) D425A probably damaging Het
Prdm1 A T 10: 44,439,986 (GRCm38) L733* probably null Het
Prdm2 A T 4: 143,135,583 (GRCm38) I379N probably damaging Het
Ptprg A T 14: 12,220,596 (GRCm38) Y436F probably damaging Het
Riok3 A G 18: 12,137,306 (GRCm38) D167G probably damaging Het
Rnf215 G T 11: 4,135,451 (GRCm38) R60L probably damaging Het
Sdk1 A T 5: 141,999,950 (GRCm38) H779L probably benign Het
Serpine2 A G 1: 79,795,031 (GRCm38) F390L probably damaging Het
Sh3d21 T A 4: 126,151,726 (GRCm38) K387* probably null Het
Slc13a2 T C 11: 78,397,746 (GRCm38) Y568C possibly damaging Het
Slc27a5 T C 7: 12,988,459 (GRCm38) probably null Het
Slc32a1 T C 2: 158,614,577 (GRCm38) L384P probably damaging Het
Sorcs1 T C 19: 50,252,587 (GRCm38) N454D probably benign Het
Spag8 T C 4: 43,652,777 (GRCm38) Y228C possibly damaging Het
Spc25 T C 2: 69,200,087 (GRCm38) I71V probably damaging Het
Tcte1 T A 17: 45,535,252 (GRCm38) F261I probably damaging Het
Thsd7a T A 6: 12,471,175 (GRCm38) K481N probably benign Het
Tll2 G T 19: 41,086,400 (GRCm38) N908K probably benign Het
Tmem236 T C 2: 14,192,280 (GRCm38) V93A probably benign Het
Top2b G A 14: 16,408,953 (GRCm38) probably null Het
Topaz1 G A 9: 122,767,011 (GRCm38) S949N probably benign Het
Triobp A G 15: 78,973,738 (GRCm38) T1180A probably benign Het
Trip11 A C 12: 101,886,160 (GRCm38) D548E probably benign Het
Trpv2 T A 11: 62,589,826 (GRCm38) probably null Het
Vmn1r12 T A 6: 57,159,555 (GRCm38) H212Q probably damaging Het
Vmn2r112 A G 17: 22,618,903 (GRCm38) T782A possibly damaging Het
Vmn2r7 A G 3: 64,716,455 (GRCm38) V239A possibly damaging Het
Vmn2r80 T A 10: 79,194,219 (GRCm38) N626K probably damaging Het
Vmn2r99 A G 17: 19,380,060 (GRCm38) S449G probably benign Het
Wfikkn2 T C 11: 94,238,107 (GRCm38) T403A probably benign Het
Xirp2 A G 2: 67,515,679 (GRCm38) I2755V probably benign Het
Yjefn3 A G 8: 69,889,079 (GRCm38) V153A probably benign Het
Zfp677 C A 17: 21,397,237 (GRCm38) H185Q possibly damaging Het
Zfp947 C T 17: 22,146,292 (GRCm38) V134I probably benign Het
Other mutations in Heatr1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00666:Heatr1 APN 13 12,410,450 (GRCm38) missense probably benign 0.00
IGL00863:Heatr1 APN 13 12,435,128 (GRCm38) missense probably benign 0.02
IGL00899:Heatr1 APN 13 12,435,176 (GRCm38) missense probably benign 0.31
IGL01147:Heatr1 APN 13 12,437,912 (GRCm38) missense probably damaging 0.99
IGL01317:Heatr1 APN 13 12,399,027 (GRCm38) missense probably damaging 1.00
IGL01323:Heatr1 APN 13 12,398,938 (GRCm38) missense possibly damaging 0.86
IGL01625:Heatr1 APN 13 12,413,528 (GRCm38) missense probably damaging 0.98
IGL01973:Heatr1 APN 13 12,429,799 (GRCm38) missense probably benign
IGL02803:Heatr1 APN 13 12,433,986 (GRCm38) missense probably damaging 0.96
IGL02830:Heatr1 APN 13 12,426,212 (GRCm38) missense possibly damaging 0.57
IGL02956:Heatr1 APN 13 12,416,059 (GRCm38) missense possibly damaging 0.53
IGL03000:Heatr1 APN 13 12,434,411 (GRCm38) missense probably damaging 0.99
IGL03024:Heatr1 APN 13 12,407,509 (GRCm38) unclassified probably benign
IGL03035:Heatr1 APN 13 12,413,219 (GRCm38) splice site probably benign
IGL03301:Heatr1 APN 13 12,434,205 (GRCm38) missense probably damaging 1.00
hasan UTSW 13 12,417,447 (GRCm38) splice site probably benign
H8562:Heatr1 UTSW 13 12,408,713 (GRCm38) missense probably benign 0.13
R0226:Heatr1 UTSW 13 12,410,562 (GRCm38) missense probably damaging 1.00
R0571:Heatr1 UTSW 13 12,430,240 (GRCm38) missense probably damaging 0.98
R0722:Heatr1 UTSW 13 12,406,037 (GRCm38) missense probably benign 0.14
R1264:Heatr1 UTSW 13 12,424,610 (GRCm38) unclassified probably benign
R1371:Heatr1 UTSW 13 12,417,632 (GRCm38) missense possibly damaging 0.80
R1388:Heatr1 UTSW 13 12,417,447 (GRCm38) splice site probably benign
R1396:Heatr1 UTSW 13 12,406,046 (GRCm38) missense possibly damaging 0.86
R1689:Heatr1 UTSW 13 12,424,625 (GRCm38) missense probably benign 0.00
R1696:Heatr1 UTSW 13 12,423,721 (GRCm38) missense possibly damaging 0.96
R1756:Heatr1 UTSW 13 12,396,460 (GRCm38) missense probably benign 0.01
R1859:Heatr1 UTSW 13 12,403,159 (GRCm38) missense probably damaging 1.00
R1932:Heatr1 UTSW 13 12,435,185 (GRCm38) missense probably damaging 1.00
R1957:Heatr1 UTSW 13 12,396,538 (GRCm38) missense probably damaging 1.00
R2018:Heatr1 UTSW 13 12,414,478 (GRCm38) missense possibly damaging 0.68
R2106:Heatr1 UTSW 13 12,412,058 (GRCm38) missense probably benign 0.03
R2119:Heatr1 UTSW 13 12,432,646 (GRCm38) missense probably null 1.00
R2121:Heatr1 UTSW 13 12,403,264 (GRCm38) missense probably benign 0.10
R2122:Heatr1 UTSW 13 12,403,264 (GRCm38) missense probably benign 0.10
R2367:Heatr1 UTSW 13 12,433,724 (GRCm38) missense probably damaging 1.00
R3777:Heatr1 UTSW 13 12,413,348 (GRCm38) missense possibly damaging 0.92
R3783:Heatr1 UTSW 13 12,434,460 (GRCm38) missense probably damaging 1.00
R3784:Heatr1 UTSW 13 12,434,460 (GRCm38) missense probably damaging 1.00
R3786:Heatr1 UTSW 13 12,434,460 (GRCm38) missense probably damaging 1.00
R3787:Heatr1 UTSW 13 12,434,460 (GRCm38) missense probably damaging 1.00
R3843:Heatr1 UTSW 13 12,435,121 (GRCm38) missense probably benign 0.00
R4533:Heatr1 UTSW 13 12,434,511 (GRCm38) missense probably benign 0.05
R4725:Heatr1 UTSW 13 12,424,662 (GRCm38) nonsense probably null
R4763:Heatr1 UTSW 13 12,430,930 (GRCm38) missense possibly damaging 0.65
R4793:Heatr1 UTSW 13 12,431,837 (GRCm38) missense probably benign 0.00
R4797:Heatr1 UTSW 13 12,412,048 (GRCm38) missense probably benign 0.36
R4798:Heatr1 UTSW 13 12,412,048 (GRCm38) missense probably benign 0.36
R4942:Heatr1 UTSW 13 12,413,510 (GRCm38) critical splice acceptor site probably null
R4952:Heatr1 UTSW 13 12,410,599 (GRCm38) missense probably benign 0.38
R4954:Heatr1 UTSW 13 12,407,516 (GRCm38) critical splice acceptor site probably null
R5370:Heatr1 UTSW 13 12,401,522 (GRCm38) missense probably benign 0.02
R5464:Heatr1 UTSW 13 12,433,643 (GRCm38) missense probably benign 0.00
R5483:Heatr1 UTSW 13 12,398,914 (GRCm38) missense probably damaging 1.00
R5497:Heatr1 UTSW 13 12,421,064 (GRCm38) missense possibly damaging 0.93
R5504:Heatr1 UTSW 13 12,406,619 (GRCm38) missense possibly damaging 0.64
R5527:Heatr1 UTSW 13 12,404,948 (GRCm38) missense probably benign
R5527:Heatr1 UTSW 13 12,402,760 (GRCm38) missense probably damaging 1.00
R5836:Heatr1 UTSW 13 12,408,736 (GRCm38) missense probably damaging 0.99
R5916:Heatr1 UTSW 13 12,434,471 (GRCm38) missense probably damaging 1.00
R6018:Heatr1 UTSW 13 12,406,058 (GRCm38) missense probably benign 0.26
R6018:Heatr1 UTSW 13 12,404,947 (GRCm38) missense probably benign
R6216:Heatr1 UTSW 13 12,432,664 (GRCm38) missense probably benign 0.16
R6396:Heatr1 UTSW 13 12,406,097 (GRCm38) missense possibly damaging 0.86
R6472:Heatr1 UTSW 13 12,434,230 (GRCm38) missense probably benign 0.29
R6922:Heatr1 UTSW 13 12,435,075 (GRCm38) missense probably benign 0.00
R7077:Heatr1 UTSW 13 12,418,164 (GRCm38) missense possibly damaging 0.63
R7297:Heatr1 UTSW 13 12,421,060 (GRCm38) nonsense probably null
R7445:Heatr1 UTSW 13 12,431,038 (GRCm38) missense possibly damaging 0.70
R7669:Heatr1 UTSW 13 12,411,262 (GRCm38) missense probably benign 0.33
R7672:Heatr1 UTSW 13 12,438,664 (GRCm38) missense probably damaging 0.96
R7772:Heatr1 UTSW 13 12,417,641 (GRCm38) missense probably benign 0.03
R8205:Heatr1 UTSW 13 12,416,047 (GRCm38) missense probably benign
R8518:Heatr1 UTSW 13 12,410,534 (GRCm38) missense probably benign
R8754:Heatr1 UTSW 13 12,413,294 (GRCm38) missense probably damaging 0.99
R8874:Heatr1 UTSW 13 12,430,912 (GRCm38) missense probably damaging 1.00
R8992:Heatr1 UTSW 13 12,401,114 (GRCm38) missense probably damaging 0.98
R9045:Heatr1 UTSW 13 12,413,352 (GRCm38) missense probably benign 0.00
R9077:Heatr1 UTSW 13 12,413,366 (GRCm38) missense probably benign
R9183:Heatr1 UTSW 13 12,421,385 (GRCm38) missense probably damaging 0.99
R9186:Heatr1 UTSW 13 12,421,346 (GRCm38) missense probably damaging 1.00
R9223:Heatr1 UTSW 13 12,404,921 (GRCm38) missense probably benign 0.00
R9242:Heatr1 UTSW 13 12,433,925 (GRCm38) missense probably benign
R9267:Heatr1 UTSW 13 12,406,608 (GRCm38) missense probably damaging 1.00
R9289:Heatr1 UTSW 13 12,432,727 (GRCm38) missense probably benign 0.13
R9310:Heatr1 UTSW 13 12,438,610 (GRCm38) missense probably benign
R9312:Heatr1 UTSW 13 12,431,684 (GRCm38) missense probably benign
R9358:Heatr1 UTSW 13 12,418,206 (GRCm38) missense probably benign 0.09
R9385:Heatr1 UTSW 13 12,406,542 (GRCm38) missense probably damaging 1.00
R9530:Heatr1 UTSW 13 12,424,726 (GRCm38) missense probably damaging 1.00
R9532:Heatr1 UTSW 13 12,414,425 (GRCm38) missense possibly damaging 0.72
R9647:Heatr1 UTSW 13 12,426,798 (GRCm38) missense probably benign 0.00
R9683:Heatr1 UTSW 13 12,434,259 (GRCm38) missense probably damaging 1.00
R9695:Heatr1 UTSW 13 12,423,743 (GRCm38) missense probably damaging 1.00
RF011:Heatr1 UTSW 13 12,407,544 (GRCm38) missense probably benign 0.00
Z1176:Heatr1 UTSW 13 12,399,008 (GRCm38) missense possibly damaging 0.68
Predicted Primers PCR Primer
(F):5'- GCATGTTGGACAGATTATCTGAAGTCCT -3'
(R):5'- CTCAGTTTAGCTGTGACCATCAGACC -3'

Sequencing Primer
(F):5'- GTATCATGGCTTAGCAATCAGTG -3'
(R):5'- TGTGACCATCAGACCACAGTG -3'
Posted On 2014-04-13