Incidental Mutation 'R4654:Heatr5b'
ID 351586
Institutional Source Beutler Lab
Gene Symbol Heatr5b
Ensembl Gene ENSMUSG00000039414
Gene Name HEAT repeat containing 5B
Synonyms A230048G03Rik, D330050P16Rik, 2010013B10Rik
MMRRC Submission 041914-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.350) question?
Stock # R4654 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 79060327-79142793 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 79128130 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 502 (S502G)
Ref Sequence ENSEMBL: ENSMUSP00000094882 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000097281]
AlphaFold Q8C547
Predicted Effect possibly damaging
Transcript: ENSMUST00000097281
AA Change: S502G

PolyPhen 2 Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000094882
Gene: ENSMUSG00000039414
AA Change: S502G

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
Meta Mutation Damage Score 0.3018 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.2%
Validation Efficiency 97% (98/101)
Allele List at MGI
Other mutations in this stock
Total: 90 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam3 A T 8: 25,193,819 (GRCm39) C398S probably damaging Het
Adamts10 A G 17: 33,756,304 (GRCm39) K316E possibly damaging Het
Ap1m1 T C 8: 73,006,717 (GRCm39) F238L possibly damaging Het
Aph1a T A 3: 95,803,088 (GRCm39) D180E probably benign Het
Atp9b A G 18: 80,935,093 (GRCm39) F201L probably benign Het
Btbd9 A C 17: 30,704,561 (GRCm39) probably benign Het
C2cd5 T C 6: 142,975,910 (GRCm39) T768A probably benign Het
Casq1 C T 1: 172,037,965 (GRCm39) probably benign Het
Cimap2 C A 4: 106,467,612 (GRCm39) M341I probably benign Het
Cltc A T 11: 86,617,196 (GRCm39) M351K probably benign Het
Cnp A G 11: 100,469,877 (GRCm39) E271G possibly damaging Het
Col22a1 T C 15: 71,845,544 (GRCm39) D406G possibly damaging Het
Cylc2 T C 4: 51,228,279 (GRCm39) S117P probably benign Het
Cyp2b13 T C 7: 25,761,072 (GRCm39) L43P probably damaging Het
Cyp3a16 A G 5: 145,373,267 (GRCm39) V500A probably benign Het
Dclk2 T C 3: 86,743,683 (GRCm39) D262G probably damaging Het
Dcun1d3 A C 7: 119,458,742 (GRCm39) Y98D probably damaging Het
Ddx39b A G 17: 35,472,464 (GRCm39) *429W probably null Het
Dennd5b T C 6: 148,908,335 (GRCm39) N986S probably damaging Het
Dipk1a T C 5: 108,057,982 (GRCm39) probably null Het
Dusp9 G A X: 72,684,378 (GRCm39) R182Q probably benign Het
Ecpas A T 4: 58,834,523 (GRCm39) I785N possibly damaging Het
Edil3 A G 13: 89,437,589 (GRCm39) K397E probably damaging Het
Ehd1 T C 19: 6,326,994 (GRCm39) probably benign Het
Fam13a A T 6: 58,964,152 (GRCm39) H93Q probably benign Het
Farp1 T C 14: 121,513,716 (GRCm39) I837T possibly damaging Het
Fbxl5 T A 5: 43,922,771 (GRCm39) I216F probably damaging Het
Gadl1 G A 9: 115,770,408 (GRCm39) E74K probably damaging Het
Gnpnat1 A G 14: 45,618,436 (GRCm39) V122A probably damaging Het
Hdac10 C T 15: 89,011,036 (GRCm39) probably benign Het
Hr C A 14: 70,801,013 (GRCm39) A695E probably damaging Het
Ift80 A T 3: 68,825,870 (GRCm39) I490N possibly damaging Het
Ipo11 A G 13: 106,970,692 (GRCm39) probably benign Het
Iqch T G 9: 63,432,195 (GRCm39) Y400S probably damaging Het
Jag2 C T 12: 112,877,266 (GRCm39) D702N probably benign Het
Kiss1r T A 10: 79,757,624 (GRCm39) L326Q probably damaging Het
Lrrc42 A T 4: 107,104,746 (GRCm39) I73N probably damaging Het
Lrrc55 C T 2: 85,026,880 (GRCm39) G48D possibly damaging Het
Lrrk2 T C 15: 91,649,884 (GRCm39) S1674P probably damaging Het
Mctp2 A G 7: 71,739,942 (GRCm39) L816P probably damaging Het
Mipol1 A T 12: 57,352,918 (GRCm39) T86S probably benign Het
Mkrn3 C T 7: 62,069,452 (GRCm39) R113H probably damaging Het
Mmp1b A G 9: 7,370,849 (GRCm39) V302A probably benign Het
Msc A T 1: 14,826,053 (GRCm39) probably null Het
Msmo1 C A 8: 65,180,888 (GRCm39) V9L probably benign Het
Nbeal2 G A 9: 110,461,072 (GRCm39) R1630C probably damaging Het
Nlgn1 C T 3: 26,187,850 (GRCm39) V12I possibly damaging Het
Npas3 T C 12: 54,108,915 (GRCm39) probably null Het
Nr2e3 A G 9: 59,856,355 (GRCm39) probably benign Het
Oca2 C T 7: 55,978,560 (GRCm39) A576V probably benign Het
Or5b21 T A 19: 12,839,596 (GRCm39) C152* probably null Het
Or6d12 T C 6: 116,493,409 (GRCm39) Y224H probably damaging Het
Or6z7 T C 7: 6,484,045 (GRCm39) T37A probably benign Het
Parp6 A G 9: 59,548,383 (GRCm39) probably null Het
Pate13 T A 9: 35,820,287 (GRCm39) C4S probably damaging Het
Phlpp1 A T 1: 106,267,231 (GRCm39) M715L probably benign Het
Pi4k2a G A 19: 42,101,544 (GRCm39) probably null Het
Pik3ap1 A G 19: 41,316,348 (GRCm39) S305P probably damaging Het
Plcg2 G A 8: 118,231,054 (GRCm39) M45I probably benign Het
Ppm1m A T 9: 106,073,601 (GRCm39) L317H probably damaging Het
Ppp1r21 T G 17: 88,866,227 (GRCm39) M341R probably benign Het
Prdx3 A G 19: 60,853,674 (GRCm39) V217A possibly damaging Het
Ptk2b A G 14: 66,400,496 (GRCm39) V773A possibly damaging Het
Raly T C 2: 154,699,376 (GRCm39) V60A probably damaging Het
Reps1 A G 10: 17,990,148 (GRCm39) D420G probably damaging Het
Rev1 A T 1: 38,118,337 (GRCm39) probably benign Het
Rgs2 T G 1: 143,878,650 (GRCm39) probably benign Het
Rlf G T 4: 121,007,798 (GRCm39) T394K probably benign Het
Rptn A T 3: 93,304,792 (GRCm39) R708S possibly damaging Het
Sec23b T A 2: 144,414,494 (GRCm39) M402K probably benign Het
Skic2 A G 17: 35,068,922 (GRCm39) C26R probably damaging Het
Slx9 T C 10: 77,325,860 (GRCm39) M170V possibly damaging Het
Smpd4 A G 16: 17,459,992 (GRCm39) probably benign Het
Synj2 A G 17: 6,063,813 (GRCm39) E434G probably damaging Het
Tatdn2 T A 6: 113,684,326 (GRCm39) F64I probably benign Het
Tex21 A C 12: 76,263,860 (GRCm39) H177Q probably benign Het
Tln1 T A 4: 43,535,954 (GRCm39) Q2077L probably null Het
Tnrc6c T C 11: 117,611,797 (GRCm39) V145A probably benign Het
Ttn C T 2: 76,616,936 (GRCm39) probably benign Het
Uggt2 A G 14: 119,269,670 (GRCm39) F954S possibly damaging Het
Ugt2a1 A G 5: 87,634,083 (GRCm39) S175P probably damaging Het
Vcl A G 14: 21,035,820 (GRCm39) probably null Het
Vegfa A T 17: 46,336,176 (GRCm39) probably benign Het
Vmn2r68 G A 7: 84,882,769 (GRCm39) Q328* probably null Het
Vmn2r7 A G 3: 64,626,864 (GRCm39) Y142H probably benign Het
Wdr17 C T 8: 55,134,434 (GRCm39) G349R probably damaging Het
Ybx3 G T 6: 131,347,290 (GRCm39) R282S probably damaging Het
Zfp566 T C 7: 29,777,194 (GRCm39) H329R probably damaging Het
Zfp786 T C 6: 47,797,868 (GRCm39) I357V probably benign Het
Zfr2 C A 10: 81,087,083 (GRCm39) probably null 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
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
R5153:Heatr5b UTSW 17 79,102,536 (GRCm39) nonsense probably null
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'- CTCAGCAGTAAAGGCAGCAG -3'
(R):5'- TGTTGGCAAAGCTGGGGAAC -3'

Sequencing Primer
(F):5'- CAGTACTGTAGTGAGGACAAAGCCC -3'
(R):5'- CTGGGGAACTGAAATTATGAGGCTTG -3'
Posted On 2015-10-08