Incidental Mutation 'R1932:Heatr1'
ID 215497
Institutional Source Beutler Lab
Gene Symbol Heatr1
Ensembl Gene ENSMUSG00000050244
Gene Name HEAT repeat containing 1
Synonyms B130016L12Rik
MMRRC Submission 039950-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.971) question?
Stock # R1932 (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 A at 12435185 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 620 (M620K)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059270] [ENSMUST00000099820] [ENSMUST00000099821] [ENSMUST00000124888] [ENSMUST00000135166] [ENSMUST00000143693]
AlphaFold G3X9B1
Predicted Effect probably benign
Transcript: ENSMUST00000059270
AA Change: M2020K

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000054084
Gene: ENSMUSG00000050244
AA Change: M2020K

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 probably benign
Transcript: ENSMUST00000099820
SMART Domains Protein: ENSMUSP00000097408
Gene: ENSMUSG00000057554

DomainStartEndE-ValueType
GLECT 16 151 3.05e-50 SMART
Gal-bind_lectin 22 150 7.41e-55 SMART
GLECT 184 316 1.38e-48 SMART
Gal-bind_lectin 190 315 1.28e-49 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000099821
SMART Domains Protein: ENSMUSP00000097409
Gene: ENSMUSG00000057554

DomainStartEndE-ValueType
GLECT 16 151 3.05e-50 SMART
Gal-bind_lectin 22 150 7.41e-55 SMART
GLECT 184 316 1.38e-48 SMART
Gal-bind_lectin 190 315 1.28e-49 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000124888
SMART Domains Protein: ENSMUSP00000115094
Gene: ENSMUSG00000057554

DomainStartEndE-ValueType
GLECT 16 151 3.05e-50 SMART
Gal-bind_lectin 22 150 7.41e-55 SMART
GLECT 184 316 1.38e-48 SMART
Gal-bind_lectin 190 315 1.28e-49 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133143
Predicted Effect probably benign
Transcript: ENSMUST00000135166
SMART Domains Protein: ENSMUSP00000120210
Gene: ENSMUSG00000057554

DomainStartEndE-ValueType
Pfam:Gal-bind_lectin 1 57 4e-16 PFAM
GLECT 91 223 1.38e-48 SMART
Gal-bind_lectin 97 222 1.28e-49 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000143693
SMART Domains Protein: ENSMUSP00000118925
Gene: ENSMUSG00000057554

DomainStartEndE-ValueType
Pfam:Gal-bind_lectin 1 57 4e-16 PFAM
GLECT 91 223 1.38e-48 SMART
Gal-bind_lectin 97 222 1.28e-49 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221051
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221616
Predicted Effect probably damaging
Transcript: ENSMUST00000222091
AA Change: M620K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 97.0%
  • 10x: 95.6%
  • 20x: 93.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 92 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg4 T A 9: 44,279,394 (GRCm38) Q278H probably benign Het
Ace3 T C 11: 106,004,610 (GRCm38) probably null Het
Aco1 T C 4: 40,176,499 (GRCm38) V221A probably damaging Het
Adamts20 T A 15: 94,404,010 (GRCm38) H27L probably benign Het
Adamts8 A G 9: 30,956,512 (GRCm38) D544G probably benign Het
Angptl4 C A 17: 33,781,275 (GRCm38) E40* probably null Het
Arsi G A 18: 60,916,651 (GRCm38) G202E probably benign Het
Atf7ip2 T A 16: 10,241,703 (GRCm38) I369N possibly damaging Het
Atp6ap1l T A 13: 90,883,687 (GRCm38) Y292F probably damaging Het
Atp6v1b2 A T 8: 69,102,807 (GRCm38) K217* probably null Het
Bid C T 6: 120,897,255 (GRCm38) A110T possibly damaging Het
Blvra T A 2: 127,095,148 (GRCm38) W174R probably damaging Het
Catsperg1 C T 7: 29,198,143 (GRCm38) G239R probably damaging Het
Ccdc157 G T 11: 4,146,549 (GRCm38) A400D probably damaging Het
Chd2 G T 7: 73,454,445 (GRCm38) P1298T probably damaging Het
CK137956 G A 4: 127,946,858 (GRCm38) L352F possibly damaging Het
Col22a1 G A 15: 71,870,140 (GRCm38) P503S unknown Het
Cox15 C T 19: 43,746,785 (GRCm38) R181H probably benign Het
Crem C T 18: 3,299,284 (GRCm38) G47R probably benign Het
Crygs T A 16: 22,806,554 (GRCm38) T46S probably benign Het
Cts8 T A 13: 61,253,615 (GRCm38) H62L probably damaging Het
Cyp4a32 T A 4: 115,611,277 (GRCm38) F319I possibly damaging Het
Dchs1 T C 7: 105,765,902 (GRCm38) S692G probably damaging Het
Ddx23 G A 15: 98,650,718 (GRCm38) R370W possibly damaging Het
Defa29 A T 8: 21,326,849 (GRCm38) S43T probably damaging Het
Dnajc14 A G 10: 128,816,792 (GRCm38) D573G probably damaging Het
Drd5 A G 5: 38,319,976 (GRCm38) Y104C probably benign Het
Efcab7 C T 4: 99,911,018 (GRCm38) P102L probably damaging Het
Efhc1 A G 1: 20,967,400 (GRCm38) Y267C probably damaging Het
Eif2ak4 T C 2: 118,448,486 (GRCm38) Y243H probably damaging Het
Gfm2 T A 13: 97,141,967 (GRCm38) I7N probably damaging Het
Gmds A G 13: 32,127,997 (GRCm38) F150L possibly damaging Het
Gp2 T C 7: 119,454,232 (GRCm38) T169A possibly damaging Het
Grb14 A G 2: 64,912,802 (GRCm38) F508L probably damaging Het
Hdac5 T A 11: 102,195,872 (GRCm38) probably benign Het
Herc3 A G 6: 58,876,793 (GRCm38) E608G probably damaging Het
Hoxb4 T C 11: 96,320,041 (GRCm38) Y156H probably damaging Het
Ifi205 T A 1: 174,028,414 (GRCm38) I17F possibly damaging Het
Il2rb A T 15: 78,491,777 (GRCm38) S25T possibly damaging Het
Kansl1 T C 11: 104,335,097 (GRCm38) T998A probably damaging Het
Kcna6 G T 6: 126,738,488 (GRCm38) H479Q probably benign Het
Kif2a T C 13: 106,978,091 (GRCm38) K350R probably benign Het
Lct G T 1: 128,294,161 (GRCm38) A1547E probably damaging Het
Lhx9 T A 1: 138,842,009 (GRCm38) probably benign Het
Lingo1 T A 9: 56,619,650 (GRCm38) I552F possibly damaging Het
Lrp4 G A 2: 91,497,355 (GRCm38) W1516* probably null Het
Lrp5 C T 19: 3,610,131 (GRCm38) V978I probably benign Het
Ltbp1 T A 17: 75,313,034 (GRCm38) D719E probably benign Het
Ltbp4 A G 7: 27,307,766 (GRCm38) probably null Het
Macf1 A G 4: 123,452,037 (GRCm38) I1326T probably damaging Het
Manba T C 3: 135,544,740 (GRCm38) F376S probably benign Het
Mink1 T C 11: 70,608,428 (GRCm38) probably null Het
Nfatc2ip C T 7: 126,384,992 (GRCm38) V410I probably damaging Het
Nlrp1b A T 11: 71,182,138 (GRCm38) I293N probably damaging Het
Olfr432 T C 1: 174,050,678 (GRCm38) Y102H probably damaging Het
Otol1 A C 3: 70,028,104 (GRCm38) E476D probably benign Het
Pcdhb4 C T 18: 37,309,541 (GRCm38) P635S probably benign Het
Pfkfb4 T A 9: 108,999,169 (GRCm38) F91I probably damaging Het
Polq G A 16: 37,062,304 (GRCm38) R1610Q possibly damaging Het
Polr3c A T 3: 96,719,298 (GRCm38) L270H probably damaging Het
Ppp1r15b C T 1: 133,131,625 (GRCm38) probably benign Het
Prkca T G 11: 108,192,149 (GRCm38) D90A probably benign Het
Sall3 T C 18: 80,969,753 (GRCm38) D1156G probably benign Het
Scn7a A T 2: 66,676,102 (GRCm38) L1481H probably damaging Het
Selenon A T 4: 134,544,618 (GRCm38) I292N probably damaging Het
Sema6d T A 2: 124,659,886 (GRCm38) probably null Het
Sgpp1 G T 12: 75,716,179 (GRCm38) Y409* probably null Het
Sh3pxd2a A G 19: 47,267,508 (GRCm38) S924P probably benign Het
Slc25a13 A G 6: 6,042,264 (GRCm38) V638A probably benign Het
Snhg11 T C 2: 158,376,826 (GRCm38) probably benign Het
Sorbs2 A G 8: 45,796,352 (GRCm38) Q800R probably benign Het
Srf C A 17: 46,549,986 (GRCm38) G401C probably damaging Het
Stradb A C 1: 58,991,105 (GRCm38) N173H probably benign Het
Swap70 C T 7: 110,279,263 (GRCm38) A480V possibly damaging Het
Sycp2 A G 2: 178,381,957 (GRCm38) V422A probably damaging Het
Taf4 G A 2: 179,932,029 (GRCm38) T682M probably damaging Het
Tet3 T C 6: 83,404,379 (GRCm38) N269S possibly damaging Het
Thap12 A T 7: 98,716,838 (GRCm38) I738F possibly damaging Het
Tiam2 C T 17: 3,514,725 (GRCm38) R1413C possibly damaging Het
Tmem229a A T 6: 24,955,011 (GRCm38) F248Y probably damaging Het
Tmprss7 G A 16: 45,684,593 (GRCm38) Q145* probably null Het
Tnc A T 4: 63,993,025 (GRCm38) probably null Het
Tonsl A T 15: 76,624,597 (GRCm38) Y21N probably damaging Het
Tpr A G 1: 150,421,663 (GRCm38) D1009G probably benign Het
Trpm2 G A 10: 77,941,158 (GRCm38) A435V probably damaging Het
Ubr3 T A 2: 69,953,476 (GRCm38) probably null Het
Vcan T C 13: 89,705,534 (GRCm38) N436D possibly damaging Het
Vmn2r104 T A 17: 20,040,769 (GRCm38) Y464F probably damaging Het
Vmn2r44 T A 7: 8,367,982 (GRCm38) R688S probably benign Het
Wdr74 G T 19: 8,737,947 (GRCm38) V157L probably benign Het
Wnt7a T A 6: 91,394,548 (GRCm38) D144V probably benign Het
Zfp106 C T 2: 120,531,681 (GRCm38) A986T possibly damaging 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
R1519:Heatr1 UTSW 13 12,412,159 (GRCm38) missense probably benign
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
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'- ACCAGGACTGAGTGTTTTGC -3'
(R):5'- AGCGAGGCTCCTTTAACAATAG -3'

Sequencing Primer
(F):5'- ACCAGGACTGAGTGTTTTGCATTTG -3'
(R):5'- GCGAGGCTCCTTTAACAATAGTTAAC -3'
Posted On 2014-07-14