Incidental Mutation 'R0226:Heatr1'
ID 33954
Institutional Source Beutler Lab
Gene Symbol Heatr1
Ensembl Gene ENSMUSG00000050244
Gene Name HEAT repeat containing 1
Synonyms B130016L12Rik
MMRRC Submission 038471-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.964) question?
Stock # R0226 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 12395027-12440289 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 12410562 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 628 (S628P)
Ref Sequence ENSEMBL: ENSMUSP00000054084 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059270] [ENSMUST00000221046]
AlphaFold G3X9B1
Predicted Effect probably damaging
Transcript: ENSMUST00000059270
AA Change: S628P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000054084
Gene: ENSMUSG00000050244
AA Change: S628P

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: ENSMUST00000221046
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221746
Meta Mutation Damage Score 0.2569 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.4%
Validation Efficiency 100% (98/98)
Allele List at MGI
Other mutations in this stock
Total: 90 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700129C05Rik G T 14: 59,142,120 (GRCm38) T54K possibly damaging Het
2210408I21Rik A T 13: 77,303,425 (GRCm38) E876V possibly damaging Het
Aasdh A T 5: 76,902,002 (GRCm38) L49Q probably damaging Het
Abca8b T C 11: 109,957,018 (GRCm38) probably null Het
Ablim1 A T 19: 57,043,870 (GRCm38) L556Q probably damaging Het
Afdn A G 17: 13,899,146 (GRCm38) T1700A probably benign Het
Agl G A 3: 116,752,071 (GRCm38) R1359C probably damaging Het
Agpat3 T A 10: 78,278,029 (GRCm38) H275L possibly damaging Het
Ahcyl1 A T 3: 107,670,270 (GRCm38) C180* probably null Het
Aim2 A G 1: 173,462,333 (GRCm38) probably benign Het
Angpt1 T C 15: 42,468,235 (GRCm38) N320S probably benign Het
Ankrd52 T A 10: 128,389,858 (GRCm38) probably null Het
Ap1g1 C T 8: 109,855,062 (GRCm38) S654L probably benign Het
Bpifa1 T A 2: 154,146,057 (GRCm38) S173R probably benign Het
Brd8 T C 18: 34,603,894 (GRCm38) probably benign Het
Btbd9 C T 17: 30,274,942 (GRCm38) D492N possibly damaging Het
C1qtnf2 A G 11: 43,490,843 (GRCm38) T161A probably benign Het
Car6 T C 4: 150,187,508 (GRCm38) Y228C probably damaging Het
Ccdc149 A G 5: 52,400,217 (GRCm38) L273P probably damaging Het
Cit G A 5: 115,984,840 (GRCm38) R1405Q probably damaging Het
Cox17 T C 16: 38,349,276 (GRCm38) L48P probably damaging Het
Cttn A G 7: 144,441,852 (GRCm38) probably benign Het
Cyp4f18 T C 8: 71,989,775 (GRCm38) probably benign Het
Dtnbp1 A G 13: 44,923,193 (GRCm38) L175P probably damaging Het
Efl1 T C 7: 82,693,011 (GRCm38) probably benign Het
Fbn1 C T 2: 125,320,910 (GRCm38) R2152Q possibly damaging Het
Fignl1 A T 11: 11,801,061 (GRCm38) S665T probably benign Het
Gm9843 A T 16: 76,403,561 (GRCm38) noncoding transcript Het
Gpr155 C T 2: 73,367,592 (GRCm38) V395I probably benign Het
Greb1l T C 18: 10,522,076 (GRCm38) probably benign Het
Hdgfl1 A T 13: 26,769,996 (GRCm38) H31Q probably benign Het
Hivep2 A G 10: 14,129,712 (GRCm38) T685A probably benign Het
Hmgcl T G 4: 135,958,728 (GRCm38) V168G probably damaging Het
Itch T C 2: 155,199,394 (GRCm38) I454T probably benign Het
Itih2 T C 2: 10,115,299 (GRCm38) D309G possibly damaging Het
Kcmf1 T C 6: 72,842,952 (GRCm38) I304V probably benign Het
Kcnh1 G A 1: 192,276,804 (GRCm38) W222* probably null Het
Kcnh1 G T 1: 192,276,805 (GRCm38) W222C probably damaging Het
Kif24 T A 4: 41,414,939 (GRCm38) K287* probably null Het
Lrig3 A G 10: 125,972,117 (GRCm38) probably benign Het
Lrp2 A T 2: 69,537,563 (GRCm38) C202S probably null Het
Lrrc37 A T 11: 103,603,241 (GRCm38) F663L probably benign Het
Lrrn2 A G 1: 132,937,820 (GRCm38) N208D probably damaging Het
Mcm5 C T 8: 75,126,252 (GRCm38) T664I possibly damaging Het
Mfsd10 A G 5: 34,634,446 (GRCm38) L365S probably benign Het
Mfsd6 A G 1: 52,658,690 (GRCm38) probably benign Het
Mgat4e A G 1: 134,541,103 (GRCm38) V401A probably benign Het
Mllt3 C A 4: 87,840,732 (GRCm38) V360L probably benign Het
Mrm1 G A 11: 84,819,170 (GRCm38) A68V possibly damaging Het
Myo19 A G 11: 84,897,732 (GRCm38) probably benign Het
Myo3b A G 2: 70,217,166 (GRCm38) T311A probably benign Het
Myo5b T C 18: 74,742,180 (GRCm38) F1552L probably benign Het
Myo7b C T 18: 31,972,896 (GRCm38) V1353I probably benign Het
Myo9b T C 8: 71,353,832 (GRCm38) S1512P probably damaging Het
Nanos3 C T 8: 84,176,134 (GRCm38) R133Q probably damaging Het
Osbpl3 A G 6: 50,353,008 (GRCm38) W63R probably damaging Het
Pcdh17 T C 14: 84,448,201 (GRCm38) S703P probably damaging Het
Pclo T C 5: 14,765,223 (GRCm38) I1231T probably damaging Het
Pex16 A C 2: 92,375,687 (GRCm38) probably benign Het
Pfkl T C 10: 77,992,534 (GRCm38) N399S probably benign Het
Pkhd1l1 G A 15: 44,526,784 (GRCm38) R1432K possibly damaging Het
Prdm1 T A 10: 44,456,696 (GRCm38) T106S probably benign Het
Prrc1 A G 18: 57,363,291 (GRCm38) M105V probably benign Het
Psg26 A G 7: 18,483,958 (GRCm38) C12R possibly damaging Het
Rnf43 A T 11: 87,731,437 (GRCm38) S455C probably damaging Het
Ryr2 T C 13: 11,772,556 (GRCm38) K977R probably damaging Het
Sart1 C T 19: 5,381,122 (GRCm38) probably benign Het
Sec14l5 A G 16: 5,180,303 (GRCm38) S509G probably benign Het
Sin3b A T 8: 72,744,508 (GRCm38) E361V probably benign Het
Slc35e3 C T 10: 117,740,890 (GRCm38) E179K possibly damaging Het
Sntb2 T C 8: 107,001,583 (GRCm38) S388P probably damaging Het
Srms A G 2: 181,212,382 (GRCm38) S131P probably benign Het
Sting1 A T 18: 35,739,088 (GRCm38) F120L probably benign Het
Stxbp5 T C 10: 9,866,698 (GRCm38) probably benign Het
Taar2 G A 10: 23,941,495 (GRCm38) R311H probably benign Het
Taar2 T C 10: 23,941,063 (GRCm38) V167A probably damaging Het
Thsd7a A G 6: 12,321,900 (GRCm38) Y1516H possibly damaging Het
Tlk1 T A 2: 70,714,169 (GRCm38) probably benign Het
Tnfaip3 T C 10: 19,002,747 (GRCm38) K771R probably damaging Het
Treml1 C T 17: 48,360,458 (GRCm38) L124F probably damaging Het
Ttn G T 2: 76,780,797 (GRCm38) Q9137K possibly damaging Het
Unkl T A 17: 25,230,711 (GRCm38) I469N probably damaging Het
Vmn1r173 G T 7: 23,703,083 (GRCm38) V248L possibly damaging Het
Vps35 T C 8: 85,273,575 (GRCm38) Q474R probably damaging Het
Wdr17 T A 8: 54,663,008 (GRCm38) T580S probably benign Het
Xpnpep1 T C 19: 53,010,152 (GRCm38) K222E probably benign Het
Ylpm1 A G 12: 85,049,737 (GRCm38) T1446A probably benign Het
Zfp277 A G 12: 40,364,162 (GRCm38) L228S possibly damaging Het
Zfp941 T A 7: 140,813,275 (GRCm38) K57M probably damaging Het
Zmpste24 A T 4: 121,081,209 (GRCm38) S244R 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
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
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'- ACAACCTGTCACCAGTTGATCCAGA -3'
(R):5'- AAAGTTGTTCCAGGCCAGCTTGA -3'

Sequencing Primer
(F):5'- ACTTTCATGTCTTCCAGGTTCAGG -3'
(R):5'- cactgactgactgctcttcc -3'
Posted On 2013-05-09