Incidental Mutation 'R5153:Heatr5b'
ID 395571
Institutional Source Beutler Lab
Gene Symbol Heatr5b
Ensembl Gene ENSMUSG00000039414
Gene Name HEAT repeat containing 5B
Synonyms A230048G03Rik, D330050P16Rik, 2010013B10Rik
MMRRC Submission 042735-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.350) question?
Stock # R5153 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 79060327-79142793 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to A at 79102536 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Stop codon at position 1281 (R1281*)
Ref Sequence ENSEMBL: ENSMUSP00000094882 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000097281]
AlphaFold Q8C547
Predicted Effect probably null
Transcript: ENSMUST00000097281
AA Change: R1281*
SMART Domains Protein: ENSMUSP00000094882
Gene: ENSMUSG00000039414
AA Change: R1281*

DomainStartEndE-ValueType
SCOP:d1qbkb_ 46 491 4e-6 SMART
SCOP:d1qbkb_ 846 1338 2e-16 SMART
low complexity region 1641 1650 N/A INTRINSIC
low complexity region 2039 2057 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2300003K06Rik A T 11: 99,728,073 (GRCm39) C257S unknown Het
4930596D02Rik C A 14: 35,532,212 (GRCm39) R121L probably benign Het
Aadacl4fm1 T A 4: 144,248,837 (GRCm39) M68K probably benign Het
Acin1 A G 14: 54,883,070 (GRCm39) V194A probably benign Het
Acsm1 T C 7: 119,239,950 (GRCm39) I298T possibly damaging Het
Aoc1 A G 6: 48,885,681 (GRCm39) N729D probably benign Het
Apobr C T 7: 126,186,904 (GRCm39) T20I possibly damaging Het
Arsb A G 13: 94,077,106 (GRCm39) E491G probably benign Het
AW209491 C G 13: 14,811,764 (GRCm39) Q206E probably benign Het
Camsap1 A T 2: 25,823,630 (GRCm39) N1473K probably damaging Het
Casp8 A G 1: 58,884,004 (GRCm39) Q457R probably benign Het
Ccdc154 G A 17: 25,387,315 (GRCm39) A350T probably damaging Het
Cecr2 A G 6: 120,711,521 (GRCm39) E183G probably benign Het
Cep295 A T 9: 15,268,925 (GRCm39) S39T probably benign Het
Cep350 A T 1: 155,811,692 (GRCm39) I416K probably damaging Het
Cidea C T 18: 67,500,490 (GRCm39) T184M probably damaging Het
Cnot10 G A 9: 114,442,803 (GRCm39) A468V probably damaging Het
Cstdc1 A G 2: 148,625,360 (GRCm39) Q98R probably benign Het
Defb22 A T 2: 152,327,722 (GRCm39) N154K unknown Het
Dnah17 A T 11: 117,973,800 (GRCm39) C1915* probably null Het
Dnah2 T C 11: 69,411,759 (GRCm39) T288A possibly damaging Het
Dop1b T A 16: 93,570,891 (GRCm39) M1512K probably damaging Het
Dsp T G 13: 38,366,282 (GRCm39) I572S probably damaging Het
Eepd1 A G 9: 25,498,049 (GRCm39) H378R probably benign Het
Elapor1 A T 3: 108,380,063 (GRCm39) Y349N possibly damaging Het
Emilin2 A G 17: 71,580,497 (GRCm39) M743T possibly damaging Het
Ext1 C A 15: 52,939,213 (GRCm39) W612L probably damaging Het
F2rl2 A G 13: 95,833,620 (GRCm39) T17A probably benign Het
Fbxl8 T G 8: 105,993,739 (GRCm39) C32G probably damaging Het
Fbxw17 A G 13: 50,573,897 (GRCm39) T38A probably damaging Het
Flii A T 11: 60,607,512 (GRCm39) L882Q possibly damaging Het
Focad T G 4: 88,278,121 (GRCm39) S1197A unknown Het
H1f11-ps A G 19: 47,159,356 (GRCm39) V73A probably damaging Het
Khdc3 A G 9: 73,010,720 (GRCm39) Q190R probably benign Het
Krt9 T A 11: 100,082,068 (GRCm39) D244V probably damaging Het
Ldhd T C 8: 112,353,724 (GRCm39) E463G probably benign Het
Lig4 A T 8: 10,023,003 (GRCm39) V259E possibly damaging Het
Luc7l3 A T 11: 94,186,806 (GRCm39) probably benign Het
Man1a2 T C 3: 100,563,579 (GRCm39) E22G probably damaging Het
Mmp23 T G 4: 155,735,797 (GRCm39) D258A probably damaging Het
Msantd2 C T 9: 37,434,509 (GRCm39) R250* probably null Het
Mynn T C 3: 30,665,738 (GRCm39) S457P probably benign Het
Nectin1 C T 9: 43,714,795 (GRCm39) H50Y probably damaging Het
Or10a3b T C 7: 108,444,906 (GRCm39) I104V probably benign Het
Or2d3c C T 7: 106,525,776 (GRCm39) V297M possibly damaging Het
Or4a47 G A 2: 89,665,578 (GRCm39) T237I possibly damaging Het
Or6c6c A G 10: 129,541,026 (GRCm39) N93S probably benign Het
Pfkfb2 G A 1: 130,629,527 (GRCm39) T303M probably damaging Het
Pkhd1l1 A G 15: 44,368,705 (GRCm39) D841G probably benign Het
Plxna4 A T 6: 32,201,094 (GRCm39) probably null Het
Podnl1 C T 8: 84,857,272 (GRCm39) H294Y probably benign Het
Ppig T A 2: 69,579,994 (GRCm39) D509E unknown Het
Ppp1r16a T A 15: 76,578,596 (GRCm39) Y433* probably null Het
Prdm1 A C 10: 44,326,221 (GRCm39) V134G possibly damaging Het
Prx T C 7: 27,217,901 (GRCm39) S940P probably damaging Het
Ptprd C T 4: 75,930,339 (GRCm39) V731I probably damaging Het
Qki A G 17: 10,457,820 (GRCm39) probably null Het
Rassf6 T C 5: 90,754,699 (GRCm39) K206R possibly damaging Het
Rdh16f2 G A 10: 127,712,124 (GRCm39) E194K possibly damaging Het
Rims1 C A 1: 22,522,328 (GRCm39) G457* probably null Het
Ripk1 T G 13: 34,197,279 (GRCm39) I123R probably damaging Het
Rnf111 A T 9: 70,383,422 (GRCm39) S170R probably benign Het
Shc3 A T 13: 51,615,413 (GRCm39) F181L probably damaging Het
Siglec1 A C 2: 130,927,497 (GRCm39) V103G probably damaging Het
Slc26a11 G T 11: 119,268,085 (GRCm39) A488S possibly damaging Het
Smoc2 A T 17: 14,556,841 (GRCm39) T97S probably damaging Het
Son T C 16: 91,451,910 (GRCm39) I219T possibly damaging Het
Sptbn1 A T 11: 30,071,510 (GRCm39) I1474N possibly damaging Het
Syt16 A T 12: 74,269,542 (GRCm39) D127V possibly damaging Het
Tet1 G T 10: 62,714,357 (GRCm39) N479K possibly damaging Het
Thsd7a G A 6: 12,338,654 (GRCm39) A1192V probably benign Het
Tmed3 G A 9: 89,581,825 (GRCm39) R213* probably null Het
Traj57 A G 14: 54,396,016 (GRCm39) probably benign Het
Trpv1 G T 11: 73,129,342 (GRCm39) R86S probably benign Het
Usp48 T A 4: 137,343,673 (GRCm39) F434L possibly damaging Het
Vmn2r59 A C 7: 41,691,834 (GRCm39) probably null Het
Vmn2r71 T A 7: 85,268,430 (GRCm39) I211N possibly damaging Het
Vps13b T A 15: 35,422,599 (GRCm39) D186E probably damaging Het
Vps33a A G 5: 123,696,691 (GRCm39) S321P probably damaging Het
Wdr12 A T 1: 60,133,670 (GRCm39) D19E probably benign Het
Zc3h12c A G 9: 52,037,947 (GRCm39) F278L probably damaging Het
Zpld1 T C 16: 55,067,007 (GRCm39) T183A probably damaging Het
Zswim2 G T 2: 83,770,010 (GRCm39) T68K possibly damaging Het
Other mutations in Heatr5b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00338:Heatr5b APN 17 79,110,863 (GRCm39) missense probably damaging 1.00
IGL00418:Heatr5b APN 17 79,060,570 (GRCm39) missense probably damaging 1.00
IGL00786:Heatr5b APN 17 79,132,063 (GRCm39) missense possibly damaging 0.95
IGL00840:Heatr5b APN 17 79,072,866 (GRCm39) missense probably damaging 1.00
IGL01362:Heatr5b APN 17 79,123,767 (GRCm39) splice site probably benign
IGL01419:Heatr5b APN 17 79,103,939 (GRCm39) missense probably benign 0.19
IGL01447:Heatr5b APN 17 79,137,026 (GRCm39) missense probably benign 0.00
IGL01591:Heatr5b APN 17 79,115,901 (GRCm39) missense probably benign 0.01
IGL01743:Heatr5b APN 17 79,132,069 (GRCm39) nonsense probably null
IGL01860:Heatr5b APN 17 79,115,909 (GRCm39) missense probably damaging 0.98
IGL01862:Heatr5b APN 17 79,103,914 (GRCm39) missense possibly damaging 0.96
IGL01984:Heatr5b APN 17 79,103,926 (GRCm39) missense possibly damaging 0.63
IGL02045:Heatr5b APN 17 79,115,855 (GRCm39) missense probably damaging 1.00
IGL02097:Heatr5b APN 17 79,124,943 (GRCm39) missense probably damaging 1.00
IGL02168:Heatr5b APN 17 79,139,020 (GRCm39) unclassified probably benign
IGL02399:Heatr5b APN 17 79,135,396 (GRCm39) missense probably damaging 0.99
IGL02540:Heatr5b APN 17 79,081,001 (GRCm39) missense probably damaging 1.00
IGL02719:Heatr5b APN 17 79,122,969 (GRCm39) missense probably damaging 1.00
IGL02824:Heatr5b APN 17 79,081,109 (GRCm39) missense probably damaging 1.00
IGL02965:Heatr5b APN 17 79,060,502 (GRCm39) missense probably benign 0.37
IGL03032:Heatr5b APN 17 79,067,928 (GRCm39) missense probably benign 0.45
IGL03243:Heatr5b APN 17 79,070,509 (GRCm39) splice site probably benign
IGL03259:Heatr5b APN 17 79,098,985 (GRCm39) missense probably damaging 1.00
IGL03349:Heatr5b APN 17 79,062,749 (GRCm39) missense probably benign 0.01
R5470_heatr5b_501 UTSW 17 79,129,008 (GRCm39) splice site probably null
R0124:Heatr5b UTSW 17 79,133,646 (GRCm39) splice site probably benign
R0285:Heatr5b UTSW 17 79,115,882 (GRCm39) missense probably benign 0.05
R0335:Heatr5b UTSW 17 79,135,375 (GRCm39) missense probably benign 0.15
R0412:Heatr5b UTSW 17 79,128,283 (GRCm39) missense probably benign 0.04
R0601:Heatr5b UTSW 17 79,075,974 (GRCm39) missense probably benign
R0725:Heatr5b UTSW 17 79,103,825 (GRCm39) missense probably benign 0.03
R1178:Heatr5b UTSW 17 79,120,698 (GRCm39) missense probably damaging 1.00
R1444:Heatr5b UTSW 17 79,062,856 (GRCm39) splice site probably benign
R1444:Heatr5b UTSW 17 79,060,622 (GRCm39) missense probably benign 0.17
R1453:Heatr5b UTSW 17 79,124,992 (GRCm39) missense probably damaging 1.00
R1469:Heatr5b UTSW 17 79,115,813 (GRCm39) missense probably damaging 1.00
R1469:Heatr5b UTSW 17 79,115,813 (GRCm39) missense probably damaging 1.00
R1506:Heatr5b UTSW 17 79,060,576 (GRCm39) missense probably damaging 1.00
R1819:Heatr5b UTSW 17 79,098,940 (GRCm39) missense probably damaging 0.98
R1835:Heatr5b UTSW 17 79,080,992 (GRCm39) missense probably damaging 1.00
R1837:Heatr5b UTSW 17 79,128,180 (GRCm39) missense possibly damaging 0.54
R1934:Heatr5b UTSW 17 79,103,347 (GRCm39) missense possibly damaging 0.93
R2014:Heatr5b UTSW 17 79,121,613 (GRCm39) missense probably damaging 1.00
R2037:Heatr5b UTSW 17 79,136,934 (GRCm39) nonsense probably null
R2154:Heatr5b UTSW 17 79,138,873 (GRCm39) missense probably benign 0.00
R2190:Heatr5b UTSW 17 79,109,185 (GRCm39) missense probably damaging 1.00
R2191:Heatr5b UTSW 17 79,081,106 (GRCm39) missense probably damaging 1.00
R2413:Heatr5b UTSW 17 79,064,290 (GRCm39) critical splice donor site probably null
R3424:Heatr5b UTSW 17 79,075,833 (GRCm39) missense possibly damaging 0.58
R3607:Heatr5b UTSW 17 79,141,646 (GRCm39) missense probably damaging 1.00
R3759:Heatr5b UTSW 17 79,131,969 (GRCm39) missense possibly damaging 0.94
R3761:Heatr5b UTSW 17 79,137,071 (GRCm39) missense probably damaging 1.00
R4127:Heatr5b UTSW 17 79,060,603 (GRCm39) missense possibly damaging 0.48
R4242:Heatr5b UTSW 17 79,064,351 (GRCm39) missense probably benign 0.00
R4345:Heatr5b UTSW 17 79,067,940 (GRCm39) missense possibly damaging 0.94
R4534:Heatr5b UTSW 17 79,118,025 (GRCm39) missense possibly damaging 0.91
R4623:Heatr5b UTSW 17 79,102,548 (GRCm39) missense possibly damaging 0.52
R4654:Heatr5b UTSW 17 79,128,130 (GRCm39) missense possibly damaging 0.95
R4939:Heatr5b UTSW 17 79,069,689 (GRCm39) missense probably benign 0.18
R4960:Heatr5b UTSW 17 79,139,013 (GRCm39) missense probably benign 0.01
R5037:Heatr5b UTSW 17 79,131,939 (GRCm39) missense probably benign 0.00
R5051:Heatr5b UTSW 17 79,102,703 (GRCm39) missense probably damaging 1.00
R5328:Heatr5b UTSW 17 79,133,791 (GRCm39) missense possibly damaging 0.94
R5346:Heatr5b UTSW 17 79,135,415 (GRCm39) missense probably benign 0.44
R5426:Heatr5b UTSW 17 79,081,142 (GRCm39) missense probably damaging 1.00
R5470:Heatr5b UTSW 17 79,129,008 (GRCm39) splice site probably null
R5472:Heatr5b UTSW 17 79,109,089 (GRCm39) missense probably damaging 1.00
R5553:Heatr5b UTSW 17 79,060,780 (GRCm39) splice site probably null
R5706:Heatr5b UTSW 17 79,074,304 (GRCm39) splice site probably null
R5804:Heatr5b UTSW 17 79,138,951 (GRCm39) missense probably damaging 0.97
R5978:Heatr5b UTSW 17 79,113,465 (GRCm39) missense probably damaging 0.99
R6122:Heatr5b UTSW 17 79,120,602 (GRCm39) missense possibly damaging 0.96
R6153:Heatr5b UTSW 17 79,138,870 (GRCm39) missense possibly damaging 0.56
R6220:Heatr5b UTSW 17 79,081,106 (GRCm39) missense probably damaging 1.00
R6221:Heatr5b UTSW 17 79,074,383 (GRCm39) missense probably benign 0.05
R6255:Heatr5b UTSW 17 79,110,863 (GRCm39) missense probably damaging 1.00
R6291:Heatr5b UTSW 17 79,069,526 (GRCm39) missense probably benign 0.08
R6455:Heatr5b UTSW 17 79,060,502 (GRCm39) missense probably benign 0.37
R6524:Heatr5b UTSW 17 79,121,535 (GRCm39) missense possibly damaging 0.94
R6575:Heatr5b UTSW 17 79,070,418 (GRCm39) missense probably damaging 1.00
R6899:Heatr5b UTSW 17 79,110,938 (GRCm39) missense probably benign 0.03
R7084:Heatr5b UTSW 17 79,117,992 (GRCm39) missense possibly damaging 0.68
R7138:Heatr5b UTSW 17 79,135,417 (GRCm39) missense probably damaging 1.00
R7148:Heatr5b UTSW 17 79,138,863 (GRCm39) missense probably damaging 0.99
R7382:Heatr5b UTSW 17 79,110,936 (GRCm39) missense possibly damaging 0.64
R7420:Heatr5b UTSW 17 79,115,909 (GRCm39) missense probably damaging 1.00
R7436:Heatr5b UTSW 17 79,075,962 (GRCm39) missense probably benign
R7519:Heatr5b UTSW 17 79,062,646 (GRCm39) missense probably benign
R7606:Heatr5b UTSW 17 79,070,455 (GRCm39) missense probably benign
R7673:Heatr5b UTSW 17 79,103,412 (GRCm39) missense probably damaging 0.97
R7782:Heatr5b UTSW 17 79,103,370 (GRCm39) missense probably damaging 0.99
R7790:Heatr5b UTSW 17 79,126,252 (GRCm39) missense probably damaging 0.99
R7922:Heatr5b UTSW 17 79,067,988 (GRCm39) missense probably benign 0.01
R8184:Heatr5b UTSW 17 79,121,662 (GRCm39) missense probably benign 0.03
R8222:Heatr5b UTSW 17 79,109,130 (GRCm39) missense possibly damaging 0.95
R8276:Heatr5b UTSW 17 79,098,968 (GRCm39) nonsense probably null
R8324:Heatr5b UTSW 17 79,062,793 (GRCm39) missense possibly damaging 0.85
R8430:Heatr5b UTSW 17 79,137,053 (GRCm39) missense probably damaging 0.97
R8432:Heatr5b UTSW 17 79,110,930 (GRCm39) missense probably damaging 0.99
R8672:Heatr5b UTSW 17 79,069,632 (GRCm39) missense probably damaging 1.00
R8781:Heatr5b UTSW 17 79,102,738 (GRCm39) missense probably benign 0.19
R8794:Heatr5b UTSW 17 79,123,015 (GRCm39) missense probably benign 0.00
R8808:Heatr5b UTSW 17 79,072,834 (GRCm39) missense possibly damaging 0.92
R8850:Heatr5b UTSW 17 79,109,188 (GRCm39) missense probably benign 0.02
R8893:Heatr5b UTSW 17 79,069,424 (GRCm39) splice site probably benign
R9010:Heatr5b UTSW 17 79,081,139 (GRCm39) missense probably damaging 1.00
R9041:Heatr5b UTSW 17 79,103,861 (GRCm39) missense probably benign 0.12
R9150:Heatr5b UTSW 17 79,103,448 (GRCm39) missense probably benign
R9253:Heatr5b UTSW 17 79,135,423 (GRCm39) missense probably benign 0.13
R9318:Heatr5b UTSW 17 79,072,831 (GRCm39) missense probably benign 0.07
R9448:Heatr5b UTSW 17 79,068,015 (GRCm39) missense probably benign 0.26
R9489:Heatr5b UTSW 17 79,060,679 (GRCm39) nonsense probably null
R9649:Heatr5b UTSW 17 79,141,524 (GRCm39) critical splice donor site probably null
X0022:Heatr5b UTSW 17 79,067,974 (GRCm39) missense probably benign 0.38
Predicted Primers PCR Primer
(F):5'- ATCCTGAGGAAATGTAAGCTGC -3'
(R):5'- GACGCCATGTTCACGACACTAG -3'

Sequencing Primer
(F):5'- GGAAATGTAAGCTGCAAACTTTG -3'
(R):5'- CATGTTCACGACACTAGGCGAG -3'
Posted On 2016-06-21