Incidental Mutation 'IGL03035:Heatr1'
ID 408641
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Heatr1
Ensembl Gene ENSMUSG00000050244
Gene Name HEAT repeat containing 1
Synonyms B130016L12Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.965) question?
Stock # IGL03035
Quality Score
Status
Chromosome 13
Chromosomal Location 12410256-12453774 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 12428100 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000054084 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059270]
AlphaFold G3X9B1
Predicted Effect probably benign
Transcript: ENSMUST00000059270
SMART Domains Protein: ENSMUSP00000054084
Gene: ENSMUSG00000050244

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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc9 A G 6: 142,573,319 (GRCm39) L1004P probably damaging Het
Adgrf5 T C 17: 43,741,518 (GRCm39) I385T possibly damaging Het
Alpk3 T C 7: 80,728,352 (GRCm39) V494A probably benign Het
Camta2 C A 11: 70,562,335 (GRCm39) E1021* probably null Het
Ccdc6 T A 10: 70,018,006 (GRCm39) S334T probably benign Het
Cd84 T C 1: 171,679,601 (GRCm39) V93A probably damaging Het
Ceacam20 T C 7: 19,711,833 (GRCm39) probably null Het
Crip2 A C 12: 113,107,745 (GRCm39) T103P probably benign Het
Cyp4f14 T A 17: 33,133,608 (GRCm39) T83S probably benign Het
Dapk1 T A 13: 60,864,587 (GRCm39) V127D probably damaging Het
Dnah7c A G 1: 46,563,277 (GRCm39) E609G probably benign Het
Dscam T A 16: 96,621,170 (GRCm39) I513F possibly damaging Het
Ell2 T A 13: 75,911,767 (GRCm39) L351* probably null Het
Emcn G T 3: 137,078,612 (GRCm39) probably null Het
Fdft1 A T 14: 63,400,838 (GRCm39) C98* probably null Het
Fer1l4 A G 2: 155,864,526 (GRCm39) S1663P possibly damaging Het
Flt4 C A 11: 49,536,724 (GRCm39) Y1231* probably null Het
Gatb A G 3: 85,509,254 (GRCm39) K139E probably damaging Het
Gtf2a1 C A 12: 91,539,411 (GRCm39) probably benign Het
Gtf3c2 A C 5: 31,323,358 (GRCm39) V574G possibly damaging Het
Homer2 T A 7: 81,274,026 (GRCm39) T57S possibly damaging Het
Ice2 C A 9: 69,332,970 (GRCm39) F825L probably benign Het
Lepr C A 4: 101,622,177 (GRCm39) L370I probably damaging Het
Nalcn G A 14: 123,515,630 (GRCm39) Q1724* probably null Het
Nufip1 A G 14: 76,353,258 (GRCm39) D222G probably damaging Het
Or4f4b T C 2: 111,314,168 (GRCm39) V159A probably benign Het
Prl3b1 A G 13: 27,433,516 (GRCm39) probably benign Het
Ptbp3 A T 4: 59,477,218 (GRCm39) M393K probably benign Het
Ptgds T C 2: 25,359,622 (GRCm39) T22A probably benign Het
Rapgef2 T A 3: 79,001,731 (GRCm39) H282L probably damaging Het
Rars2 T C 4: 34,656,865 (GRCm39) probably null Het
Rnf213 G A 11: 119,336,452 (GRCm39) probably benign Het
Ros1 C A 10: 51,952,080 (GRCm39) probably benign Het
Slx4ip A G 2: 136,909,623 (GRCm39) D206G possibly damaging Het
Sprr1a T A 3: 92,391,884 (GRCm39) D39V probably benign Het
Stab1 A G 14: 30,869,726 (GRCm39) V1442A probably benign Het
Tbx3 C A 5: 119,821,161 (GRCm39) probably benign Het
Ubl3 A G 5: 148,442,947 (GRCm39) *118Q probably null Het
Vmn2r55 G A 7: 12,404,743 (GRCm39) S220L probably benign Het
Vps36 A G 8: 22,708,431 (GRCm39) K362E probably benign Het
Zfp268 C A 4: 145,348,802 (GRCm39) Q80K possibly damaging Het
Other mutations in Heatr1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00666:Heatr1 APN 13 12,425,331 (GRCm39) missense probably benign 0.00
IGL00863:Heatr1 APN 13 12,450,009 (GRCm39) missense probably benign 0.02
IGL00899:Heatr1 APN 13 12,450,057 (GRCm39) missense probably benign 0.31
IGL01147:Heatr1 APN 13 12,452,793 (GRCm39) missense probably damaging 0.99
IGL01317:Heatr1 APN 13 12,413,908 (GRCm39) missense probably damaging 1.00
IGL01323:Heatr1 APN 13 12,413,819 (GRCm39) missense possibly damaging 0.86
IGL01625:Heatr1 APN 13 12,428,409 (GRCm39) missense probably damaging 0.98
IGL01973:Heatr1 APN 13 12,444,680 (GRCm39) missense probably benign
IGL02803:Heatr1 APN 13 12,448,867 (GRCm39) missense probably damaging 0.96
IGL02830:Heatr1 APN 13 12,441,093 (GRCm39) missense possibly damaging 0.57
IGL02956:Heatr1 APN 13 12,430,940 (GRCm39) missense possibly damaging 0.53
IGL03000:Heatr1 APN 13 12,449,292 (GRCm39) missense probably damaging 0.99
IGL03024:Heatr1 APN 13 12,422,390 (GRCm39) unclassified probably benign
IGL03301:Heatr1 APN 13 12,449,086 (GRCm39) missense probably damaging 1.00
hasan UTSW 13 12,432,328 (GRCm39) splice site probably benign
H8562:Heatr1 UTSW 13 12,423,594 (GRCm39) missense probably benign 0.13
R0226:Heatr1 UTSW 13 12,425,443 (GRCm39) missense probably damaging 1.00
R0571:Heatr1 UTSW 13 12,445,121 (GRCm39) missense probably damaging 0.98
R0722:Heatr1 UTSW 13 12,420,918 (GRCm39) missense probably benign 0.14
R1264:Heatr1 UTSW 13 12,439,491 (GRCm39) unclassified probably benign
R1371:Heatr1 UTSW 13 12,432,513 (GRCm39) missense possibly damaging 0.80
R1388:Heatr1 UTSW 13 12,432,328 (GRCm39) splice site probably benign
R1396:Heatr1 UTSW 13 12,420,927 (GRCm39) missense possibly damaging 0.86
R1519:Heatr1 UTSW 13 12,427,040 (GRCm39) missense probably benign
R1689:Heatr1 UTSW 13 12,439,506 (GRCm39) missense probably benign 0.00
R1696:Heatr1 UTSW 13 12,438,602 (GRCm39) missense possibly damaging 0.96
R1756:Heatr1 UTSW 13 12,411,341 (GRCm39) missense probably benign 0.01
R1859:Heatr1 UTSW 13 12,418,040 (GRCm39) missense probably damaging 1.00
R1932:Heatr1 UTSW 13 12,450,066 (GRCm39) missense probably damaging 1.00
R1957:Heatr1 UTSW 13 12,411,419 (GRCm39) missense probably damaging 1.00
R2018:Heatr1 UTSW 13 12,429,359 (GRCm39) missense possibly damaging 0.68
R2106:Heatr1 UTSW 13 12,426,939 (GRCm39) missense probably benign 0.03
R2119:Heatr1 UTSW 13 12,447,527 (GRCm39) missense probably null 1.00
R2121:Heatr1 UTSW 13 12,418,145 (GRCm39) missense probably benign 0.10
R2122:Heatr1 UTSW 13 12,418,145 (GRCm39) missense probably benign 0.10
R2367:Heatr1 UTSW 13 12,448,605 (GRCm39) missense probably damaging 1.00
R3777:Heatr1 UTSW 13 12,428,229 (GRCm39) missense possibly damaging 0.92
R3783:Heatr1 UTSW 13 12,449,341 (GRCm39) missense probably damaging 1.00
R3784:Heatr1 UTSW 13 12,449,341 (GRCm39) missense probably damaging 1.00
R3786:Heatr1 UTSW 13 12,449,341 (GRCm39) missense probably damaging 1.00
R3787:Heatr1 UTSW 13 12,449,341 (GRCm39) missense probably damaging 1.00
R3843:Heatr1 UTSW 13 12,450,002 (GRCm39) missense probably benign 0.00
R4533:Heatr1 UTSW 13 12,449,392 (GRCm39) missense probably benign 0.05
R4725:Heatr1 UTSW 13 12,439,543 (GRCm39) nonsense probably null
R4763:Heatr1 UTSW 13 12,445,811 (GRCm39) missense possibly damaging 0.65
R4793:Heatr1 UTSW 13 12,446,718 (GRCm39) missense probably benign 0.00
R4797:Heatr1 UTSW 13 12,426,929 (GRCm39) missense probably benign 0.36
R4798:Heatr1 UTSW 13 12,426,929 (GRCm39) missense probably benign 0.36
R4942:Heatr1 UTSW 13 12,428,391 (GRCm39) critical splice acceptor site probably null
R4952:Heatr1 UTSW 13 12,425,480 (GRCm39) missense probably benign 0.38
R4954:Heatr1 UTSW 13 12,422,397 (GRCm39) critical splice acceptor site probably null
R5370:Heatr1 UTSW 13 12,416,403 (GRCm39) missense probably benign 0.02
R5464:Heatr1 UTSW 13 12,448,524 (GRCm39) missense probably benign 0.00
R5483:Heatr1 UTSW 13 12,413,795 (GRCm39) missense probably damaging 1.00
R5497:Heatr1 UTSW 13 12,435,945 (GRCm39) missense possibly damaging 0.93
R5504:Heatr1 UTSW 13 12,421,500 (GRCm39) missense possibly damaging 0.64
R5527:Heatr1 UTSW 13 12,419,829 (GRCm39) missense probably benign
R5527:Heatr1 UTSW 13 12,417,641 (GRCm39) missense probably damaging 1.00
R5836:Heatr1 UTSW 13 12,423,617 (GRCm39) missense probably damaging 0.99
R5916:Heatr1 UTSW 13 12,449,352 (GRCm39) missense probably damaging 1.00
R6018:Heatr1 UTSW 13 12,420,939 (GRCm39) missense probably benign 0.26
R6018:Heatr1 UTSW 13 12,419,828 (GRCm39) missense probably benign
R6216:Heatr1 UTSW 13 12,447,545 (GRCm39) missense probably benign 0.16
R6396:Heatr1 UTSW 13 12,420,978 (GRCm39) missense possibly damaging 0.86
R6472:Heatr1 UTSW 13 12,449,111 (GRCm39) missense probably benign 0.29
R6922:Heatr1 UTSW 13 12,449,956 (GRCm39) missense probably benign 0.00
R7077:Heatr1 UTSW 13 12,433,045 (GRCm39) missense possibly damaging 0.63
R7297:Heatr1 UTSW 13 12,435,941 (GRCm39) nonsense probably null
R7445:Heatr1 UTSW 13 12,445,919 (GRCm39) missense possibly damaging 0.70
R7669:Heatr1 UTSW 13 12,426,143 (GRCm39) missense probably benign 0.33
R7672:Heatr1 UTSW 13 12,453,545 (GRCm39) missense probably damaging 0.96
R7772:Heatr1 UTSW 13 12,432,522 (GRCm39) missense probably benign 0.03
R8205:Heatr1 UTSW 13 12,430,928 (GRCm39) missense probably benign
R8518:Heatr1 UTSW 13 12,425,415 (GRCm39) missense probably benign
R8754:Heatr1 UTSW 13 12,428,175 (GRCm39) missense probably damaging 0.99
R8874:Heatr1 UTSW 13 12,445,793 (GRCm39) missense probably damaging 1.00
R8992:Heatr1 UTSW 13 12,415,995 (GRCm39) missense probably damaging 0.98
R9045:Heatr1 UTSW 13 12,428,233 (GRCm39) missense probably benign 0.00
R9077:Heatr1 UTSW 13 12,428,247 (GRCm39) missense probably benign
R9183:Heatr1 UTSW 13 12,436,266 (GRCm39) missense probably damaging 0.99
R9186:Heatr1 UTSW 13 12,436,227 (GRCm39) missense probably damaging 1.00
R9223:Heatr1 UTSW 13 12,419,802 (GRCm39) missense probably benign 0.00
R9242:Heatr1 UTSW 13 12,448,806 (GRCm39) missense probably benign
R9267:Heatr1 UTSW 13 12,421,489 (GRCm39) missense probably damaging 1.00
R9289:Heatr1 UTSW 13 12,447,608 (GRCm39) missense probably benign 0.13
R9310:Heatr1 UTSW 13 12,453,491 (GRCm39) missense probably benign
R9312:Heatr1 UTSW 13 12,446,565 (GRCm39) missense probably benign
R9358:Heatr1 UTSW 13 12,433,087 (GRCm39) missense probably benign 0.09
R9385:Heatr1 UTSW 13 12,421,423 (GRCm39) missense probably damaging 1.00
R9530:Heatr1 UTSW 13 12,439,607 (GRCm39) missense probably damaging 1.00
R9532:Heatr1 UTSW 13 12,429,306 (GRCm39) missense possibly damaging 0.72
R9647:Heatr1 UTSW 13 12,441,679 (GRCm39) missense probably benign 0.00
R9683:Heatr1 UTSW 13 12,449,140 (GRCm39) missense probably damaging 1.00
R9695:Heatr1 UTSW 13 12,438,624 (GRCm39) missense probably damaging 1.00
RF011:Heatr1 UTSW 13 12,422,425 (GRCm39) missense probably benign 0.00
Z1176:Heatr1 UTSW 13 12,413,889 (GRCm39) missense possibly damaging 0.68
Posted On 2016-08-02