Incidental Mutation 'R0601:Heatr5b'
ID 55459
Institutional Source Beutler Lab
Gene Symbol Heatr5b
Ensembl Gene ENSMUSG00000039414
Gene Name HEAT repeat containing 5B
Synonyms A230048G03Rik, D330050P16Rik, 2010013B10Rik
MMRRC Submission 038790-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.350) question?
Stock # R0601 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 79060327-79142793 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 79075974 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 1448 (M1448K)
Ref Sequence ENSEMBL: ENSMUSP00000094882 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000097281]
AlphaFold Q8C547
Predicted Effect probably benign
Transcript: ENSMUST00000097281
AA Change: M1448K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000094882
Gene: ENSMUSG00000039414
AA Change: M1448K

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 0.0898 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.6%
  • 20x: 95.2%
Validation Efficiency 98% (119/122)
Allele List at MGI
Other mutations in this stock
Total: 119 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930596D02Rik T G 14: 35,532,146 (GRCm39) D143A probably damaging Het
Abca9 C T 11: 110,007,884 (GRCm39) probably null Het
Abcc5 A G 16: 20,223,309 (GRCm39) probably benign Het
Ablim3 T A 18: 61,982,441 (GRCm39) D168V probably benign Het
Acsl3 C T 1: 78,673,896 (GRCm39) S352F probably damaging Het
Adgrl4 A T 3: 151,204,066 (GRCm39) probably benign Het
Arhgap29 A G 3: 121,784,759 (GRCm39) K229E probably damaging Het
Atad3a A T 4: 155,831,864 (GRCm39) V470D probably damaging Het
Atp8b1 A G 18: 64,704,724 (GRCm39) probably null Het
Bcl2 G A 1: 106,640,292 (GRCm39) R107C probably damaging Het
Bpifa5 A G 2: 154,006,175 (GRCm39) N121S possibly damaging Het
Bpifb4 G A 2: 153,789,203 (GRCm39) probably benign Het
Bptf T A 11: 106,952,518 (GRCm39) T2112S probably benign Het
Btnl4 T C 17: 34,688,285 (GRCm39) K498E probably benign Het
Calhm2 A G 19: 47,129,469 (GRCm39) probably null Het
Capn3 A T 2: 120,333,077 (GRCm39) probably null Het
Caps2 T C 10: 112,031,695 (GRCm39) F265L possibly damaging Het
Casp3 G T 8: 47,089,262 (GRCm39) C170F probably benign Het
Ccdc39 T C 3: 33,873,988 (GRCm39) R615G probably damaging Het
Cd177 A G 7: 24,451,738 (GRCm39) I426T probably benign Het
Cfap53 G A 18: 74,433,221 (GRCm39) R102H possibly damaging Het
Cfhr3 G A 1: 139,521,623 (GRCm39) noncoding transcript Het
Col7a1 T C 9: 108,809,652 (GRCm39) probably benign Het
Cplx3 T C 9: 57,513,357 (GRCm39) E24G possibly damaging Het
Dhx30 A G 9: 109,915,782 (GRCm39) probably null Het
Dnah8 T A 17: 30,927,332 (GRCm39) N1329K probably benign Het
Dnajc11 C G 4: 152,054,393 (GRCm39) R200G probably damaging Het
Dok3 A T 13: 55,672,076 (GRCm39) F201I probably benign Het
Dpf2 A T 19: 5,952,240 (GRCm39) H303Q probably damaging Het
Dtnb A G 12: 3,785,039 (GRCm39) probably benign Het
Dync2i1 T C 12: 116,219,555 (GRCm39) D129G possibly damaging Het
Elk3 T C 10: 93,101,343 (GRCm39) E136G probably damaging Het
Ephb1 T C 9: 102,072,329 (GRCm39) D150G probably damaging Het
Erbb3 A G 10: 128,412,881 (GRCm39) S570P probably benign Het
F2 A T 2: 91,463,656 (GRCm39) probably null Het
Fanca A T 8: 124,035,252 (GRCm39) M231K probably damaging Het
Fbxo34 T C 14: 47,767,714 (GRCm39) V358A probably benign Het
Foxp1 C T 6: 98,907,083 (GRCm39) E666K probably damaging Het
Fto A G 8: 92,128,430 (GRCm39) probably null Het
Gbp2 C T 3: 142,336,519 (GRCm39) R290C possibly damaging Het
Gm57859 T A 11: 113,578,712 (GRCm39) S36T probably benign Het
Grik2 T G 10: 49,298,693 (GRCm39) S343R probably damaging Het
Hmgn3 A T 9: 83,028,482 (GRCm39) probably null Het
Htt T C 5: 35,003,347 (GRCm39) V1274A probably benign Het
Kcnh8 A G 17: 53,201,033 (GRCm39) D489G probably damaging Het
Kcnip3 A T 2: 127,300,317 (GRCm39) probably benign Het
Kdm5a A G 6: 120,379,632 (GRCm39) T647A possibly damaging Het
Krt72 T C 15: 101,694,491 (GRCm39) R135G probably damaging Het
Larp7 T A 3: 127,337,858 (GRCm39) K400N probably damaging Het
Lifr T C 15: 7,198,753 (GRCm39) probably null Het
Lima1 G A 15: 99,678,353 (GRCm39) P696L probably damaging Het
Lrrc8e T G 8: 4,285,239 (GRCm39) probably null Het
Map1a A G 2: 121,129,083 (GRCm39) R116G probably damaging Het
Map3k13 A G 16: 21,723,999 (GRCm39) E327G possibly damaging Het
Med13 A G 11: 86,236,788 (GRCm39) V123A possibly damaging Het
Megf8 A C 7: 25,027,965 (GRCm39) H205P probably benign Het
Met G A 6: 17,555,631 (GRCm39) probably null Het
Mfsd14b A C 13: 65,234,964 (GRCm39) V71G possibly damaging Het
Mpl T A 4: 118,300,733 (GRCm39) T599S probably benign Het
Myh15 A T 16: 48,881,944 (GRCm39) D62V probably damaging Het
Myo5a A G 9: 75,081,297 (GRCm39) T961A probably benign Het
Myrfl A G 10: 116,612,665 (GRCm39) Y895H probably damaging Het
Nap1l1 T C 10: 111,326,224 (GRCm39) probably benign Het
Ncapd3 T A 9: 26,952,803 (GRCm39) Y111N probably benign Het
Nlrc3 A G 16: 3,766,113 (GRCm39) probably benign Het
Nsun2 G T 13: 69,781,361 (GRCm39) V657L probably benign Het
Or10g1b C A 14: 52,627,283 (GRCm39) G316* probably null Het
Or4a74 T A 2: 89,439,564 (GRCm39) N294I probably benign Het
Or4b13 T C 2: 90,083,278 (GRCm39) D18G probably benign Het
Or52d1 A T 7: 103,756,349 (GRCm39) I288F possibly damaging Het
Or52e19 T C 7: 102,959,371 (GRCm39) S148P probably damaging Het
Or5k3 G A 16: 58,970,117 (GRCm39) M301I probably benign Het
Or5m13b A T 2: 85,753,722 (GRCm39) I37F probably benign Het
Or6c68 T A 10: 129,157,885 (GRCm39) M131K possibly damaging Het
Osbpl3 A T 6: 50,276,383 (GRCm39) V795D probably benign Het
Osbpl5 T C 7: 143,263,286 (GRCm39) D155G probably damaging Het
Parm1 G A 5: 91,742,123 (GRCm39) V164I probably benign Het
Pgd A T 4: 149,241,267 (GRCm39) probably benign Het
Pkp1 G A 1: 135,805,920 (GRCm39) R593W probably damaging Het
Polr2l A T 7: 141,053,255 (GRCm39) V53E probably damaging Het
Ppp4c G T 7: 126,386,460 (GRCm39) T29K probably benign Het
Ppp4r4 T A 12: 103,566,779 (GRCm39) probably benign Het
Ptprd A G 4: 76,018,711 (GRCm39) S688P probably benign Het
Rab3b A T 4: 108,747,586 (GRCm39) I28F probably damaging Het
Rnase4 T C 14: 51,342,552 (GRCm39) L92P probably benign Het
Rnpc3 T C 3: 113,413,755 (GRCm39) E229G probably benign Het
Rtraf A T 14: 19,866,274 (GRCm39) D147E possibly damaging Het
Rttn G A 18: 89,061,090 (GRCm39) G1086D probably benign Het
Ryr2 A G 13: 11,720,519 (GRCm39) probably null Het
Sft2d2 T C 1: 165,011,430 (GRCm39) I126V probably benign Het
Skap1 G T 11: 96,614,236 (GRCm39) probably benign Het
Slc14a2 A T 18: 78,200,394 (GRCm39) L753* probably null Het
Slc25a5 G A X: 36,059,408 (GRCm39) A9T probably benign Het
Slc30a5 T C 13: 100,951,278 (GRCm39) probably benign Het
Slc5a4b A C 10: 75,899,870 (GRCm39) I456S possibly damaging Het
Slc9a4 A T 1: 40,642,230 (GRCm39) S400C probably damaging Het
Slx1b T A 7: 126,291,812 (GRCm39) H84L probably damaging Het
Sptbn1 T C 11: 30,100,008 (GRCm39) Y190C probably damaging Het
Stk32b T C 5: 37,688,910 (GRCm39) Q138R probably damaging Het
Syt6 C A 3: 103,528,206 (GRCm39) D308E probably damaging Het
Sytl2 G A 7: 90,044,374 (GRCm39) D572N probably damaging Het
Taok2 A T 7: 126,478,605 (GRCm39) L109Q probably damaging Het
Tbl1xr1 T C 3: 22,233,483 (GRCm39) probably benign Het
Tlk1 A G 2: 70,544,502 (GRCm39) I711T probably benign Het
Trf A G 9: 103,100,132 (GRCm39) probably null Het
Trpc2 A G 7: 101,733,572 (GRCm39) T548A possibly damaging Het
Ttbk2 A T 2: 120,655,777 (GRCm39) I29N possibly damaging Het
Tti1 A T 2: 157,835,292 (GRCm39) C989S probably damaging Het
Txndc8 A G 4: 58,000,256 (GRCm39) Y108H probably benign Het
Ugt2b1 A T 5: 87,065,539 (GRCm39) V500D possibly damaging Het
Vmn1r34 A G 6: 66,614,648 (GRCm39) I30T possibly damaging Het
Vmn2r115 A G 17: 23,579,074 (GRCm39) K849R probably null Het
Vmn2r76 T A 7: 85,875,323 (GRCm39) probably null Het
Vps13c T A 9: 67,834,754 (GRCm39) S1694R probably benign Het
Wdfy3 G T 5: 101,984,038 (GRCm39) P3509T probably benign Het
Wdr59 GGGTGGTG GGGTG 8: 112,207,172 (GRCm39) probably benign Het
Wnt8b T A 19: 44,482,106 (GRCm39) W40R probably benign Het
Xrra1 A G 7: 99,560,175 (GRCm39) I384V possibly damaging Het
Zfp11 A T 5: 129,734,971 (GRCm39) H163Q probably 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
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
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'- TGGTTCTAGTCTCTGCCAAGTCCAC -3'
(R):5'- TAGACAGGAAGGTGCTCTGTGCTG -3'

Sequencing Primer
(F):5'- CACGTAGTACTTACCATCTGGGG -3'
(R):5'- cacacacctttaatctcagcac -3'
Posted On 2013-07-11