Incidental Mutation 'R7672:Heatr1'
ID 592254
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 # R7672 (G1)
Quality Score 225.009
Status Not validated
Chromosome 13
Chromosomal Location 12395027-12440289 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 12438664 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 2140 (Q2140L)
Ref Sequence ENSEMBL: ENSMUSP00000054084 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059270] [ENSMUST00000099820] [ENSMUST00000099821] [ENSMUST00000124888] [ENSMUST00000135166] [ENSMUST00000143693] [ENSMUST00000144283]
AlphaFold G3X9B1
Predicted Effect probably damaging
Transcript: ENSMUST00000059270
AA Change: Q2140L

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000054084
Gene: ENSMUSG00000050244
AA Change: Q2140L

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 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 probably benign
Transcript: ENSMUST00000144283
SMART Domains Protein: ENSMUSP00000114200
Gene: ENSMUSG00000057554

DomainStartEndE-ValueType
GLECT 16 151 3.05e-50 SMART
Gal-bind_lectin 22 150 7.41e-55 SMART
GLECT 193 325 1.38e-48 SMART
Gal-bind_lectin 199 324 1.28e-49 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000222091
AA Change: Q740L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9130023H24Rik T C 7: 128,237,019 (GRCm38) H134R probably damaging Het
Adcy4 A G 14: 55,780,905 (GRCm38) M195T probably benign Het
Aktip T C 8: 91,129,657 (GRCm38) N64S possibly damaging Het
Aldoart1 C A 4: 72,852,510 (GRCm38) M20I probably benign Het
Alms1 T C 6: 85,615,351 (GRCm38) L395P probably damaging Het
Ankrd9 C A 12: 110,976,746 (GRCm38) V252F probably benign Het
Apof A T 10: 128,269,016 (GRCm38) H13L probably benign Het
Bahcc1 T C 11: 120,283,346 (GRCm38) F1644S possibly damaging Het
Baz2a A G 10: 128,123,857 (GRCm38) D1377G possibly damaging Het
Bbox1 T A 2: 110,305,449 (GRCm38) I62F probably damaging Het
BC028528 CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT 3: 95,888,136 (GRCm38) probably benign Het
BC028528 GTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTG GTTCTGTGGTCACTGATTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTG 3: 95,888,143 (GRCm38) probably benign Het
BC028528 TCTGTGGTCACTGGT TCTGTGGTCACTGGTGCTGTGGTCACTGGT 3: 95,888,175 (GRCm38) probably benign Het
Bcas3 C T 11: 85,395,387 (GRCm38) R124* probably null Het
Bpnt1 T C 1: 185,346,682 (GRCm38) V114A probably damaging Het
Ccnd1 C T 7: 144,934,056 (GRCm38) R228H possibly damaging Het
Cd244a T C 1: 171,577,285 (GRCm38) V235A probably benign Het
Cramp1 C T 17: 24,982,466 (GRCm38) E681K probably damaging Het
Crebbp C T 16: 4,084,710 (GRCm38) A2222T probably benign Het
Cyp1a2 T A 9: 57,682,337 (GRCm38) T65S probably benign Het
Cyp26b1 T G 6: 84,584,369 (GRCm38) K104Q probably benign Het
D430041D05Rik T C 2: 104,241,236 (GRCm38) I556V probably benign Het
Dnase1l2 A G 17: 24,442,245 (GRCm38) L102P probably damaging Het
Eef1ece2 C A 16: 20,638,667 (GRCm38) A483E probably damaging Het
Elac1 C T 18: 73,738,854 (GRCm38) G357S probably benign Het
Enam C A 5: 88,503,971 (GRCm38) T1113N possibly damaging Het
Eogt A T 6: 97,113,909 (GRCm38) I423N probably damaging Het
Epc2 T C 2: 49,545,819 (GRCm38) S612P possibly damaging Het
Fam107b T C 2: 3,772,922 (GRCm38) V24A probably damaging Het
Fhip2a A G 19: 57,385,318 (GRCm38) H670R possibly damaging Het
Foxj3 C T 4: 119,620,232 (GRCm38) P413L unknown Het
Frg1 T C 8: 41,417,003 (GRCm38) probably benign Het
Fsip2 T A 2: 82,990,111 (GRCm38) V5396D possibly damaging Het
Hdlbp T C 1: 93,437,099 (GRCm38) T149A possibly damaging Het
Iqcd T C 5: 120,606,816 (GRCm38) L403P probably damaging Het
Kifbp A G 10: 62,578,073 (GRCm38) I102T probably benign Het
Kpna2 T G 11: 106,988,963 (GRCm38) N505T probably benign Het
Lipo1 T A 19: 33,780,385 (GRCm38) E228V probably benign Het
Map4k3 C T 17: 80,615,071 (GRCm38) V474I possibly damaging Het
Mrpl11 T C 19: 4,962,396 (GRCm38) S2P probably damaging Het
Mug2 A G 6: 122,040,719 (GRCm38) I472V probably benign Het
Myom1 G A 17: 71,084,240 (GRCm38) V915M possibly damaging Het
Nedd9 A T 13: 41,338,722 (GRCm38) I104N possibly damaging Het
Nphp3 A G 9: 104,031,960 (GRCm38) M790V probably benign Het
Nr3c2 C T 8: 76,909,209 (GRCm38) P313L probably damaging Het
Obsl1 A G 1: 75,492,721 (GRCm38) V1192A probably benign Het
Or10j2 C T 1: 173,270,873 (GRCm38) R233W probably benign Het
Or52e7 A G 7: 105,035,543 (GRCm38) H115R probably damaging Het
Or5t16 T C 2: 86,988,319 (GRCm38) I286V possibly damaging Het
Prr5l T G 2: 101,734,738 (GRCm38) E151A probably damaging Het
Psmb8 G T 17: 34,198,430 (GRCm38) R11L probably benign Het
Ptprg T A 14: 12,211,668 (GRCm38) H983Q probably benign Het
Ptprj T C 2: 90,460,596 (GRCm38) N600D possibly damaging Het
Rasgrp1 T C 2: 117,287,943 (GRCm38) I522V probably damaging Het
Rc3h1 A G 1: 160,950,884 (GRCm38) S460G probably damaging Het
Rhot2 A G 17: 25,843,105 (GRCm38) probably null Het
Sall1 T C 8: 89,031,299 (GRCm38) T726A probably damaging Het
Samd9l G A 6: 3,373,646 (GRCm38) T1205I probably benign Het
Sh2b3 C T 5: 121,818,759 (GRCm38) probably null Het
Slc22a18 G T 7: 143,490,820 (GRCm38) C170F probably damaging Het
Slc24a1 G A 9: 64,947,927 (GRCm38) T566I unknown Het
Slc4a5 T A 6: 83,260,535 (GRCm38) C167S probably damaging Het
Slc8b1 T G 5: 120,533,035 (GRCm38) V579G probably damaging Het
Snrnp200 T C 2: 127,221,902 (GRCm38) V667A probably damaging Het
Sp8 C A 12: 118,849,335 (GRCm38) S308R possibly damaging Het
Srsf9 T A 5: 115,330,560 (GRCm38) V85E probably damaging Het
Syne1 T C 10: 5,218,527 (GRCm38) I5285V probably benign Het
Tmem245 T C 4: 56,947,069 (GRCm38) I115V probably benign Het
Triqk A G 4: 12,980,502 (GRCm38) D82G probably benign Het
Trmt11 A T 10: 30,587,524 (GRCm38) S198R probably damaging Het
Ube4b C T 4: 149,387,204 (GRCm38) R75Q probably benign Het
Ugt3a1 C T 15: 9,310,693 (GRCm38) Q354* probably null Het
Vmn1r202 A G 13: 22,501,680 (GRCm38) V189A probably benign Het
Vmn2r26 A G 6: 124,039,647 (GRCm38) I357V probably benign Het
Wdr6 T C 9: 108,573,748 (GRCm38) K914R probably benign Het
Zfat T C 15: 68,258,686 (GRCm38) M1V probably null Het
Zfp207 A G 11: 80,389,290 (GRCm38) M171V probably benign Het
Zfp568 C T 7: 29,997,787 (GRCm38) T44I probably 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
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
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'- TCCAAGAACAAGTACATGCCTG -3'
(R):5'- TTCTGTGGTATCCCAGACAGG -3'

Sequencing Primer
(F):5'- ACAAGTACATGCCTGTGAGG -3'
(R):5'- TCCCAGACAGGCAGGGATTTTG -3'
Posted On 2019-11-12