Incidental Mutation 'R5470:Heatr5b'
ID 433501
Institutional Source Beutler Lab
Gene Symbol Heatr5b
Ensembl Gene ENSMUSG00000039414
Gene Name HEAT repeat containing 5B
Synonyms 2010013B10Rik, A230048G03Rik, D330050P16Rik
MMRRC Submission 043031-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.633) question?
Stock # R5470 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 78752906-78835381 bp(-) (GRCm38)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 78821579 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000094882 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000097281]
AlphaFold Q8C547
Predicted Effect probably null
Transcript: ENSMUST00000097281
SMART Domains Protein: ENSMUSP00000094882
Gene: ENSMUSG00000039414

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 0.9755 question?
Coding Region Coverage
  • 1x: 98.3%
  • 3x: 97.3%
  • 10x: 95.1%
  • 20x: 90.4%
Validation Efficiency 99% (79/80)
Allele List at MGI
Other mutations in this stock
Total: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn1 T A 12: 80,168,941 (GRCm38) I813F probably damaging Het
Aqr G A 2: 114,157,575 (GRCm38) L169F probably damaging Het
Atp6v1d G A 12: 78,845,284 (GRCm38) R182C probably benign Het
Bcl2l13 G T 6: 120,862,872 (GRCm38) A44S probably benign Het
Brip1 T C 11: 86,148,542 (GRCm38) K389E possibly damaging Het
C530025M09Rik G A 2: 149,831,125 (GRCm38) probably benign Het
Ccdc7b T A 8: 129,072,600 (GRCm38) S53T possibly damaging Het
Chd8 A G 14: 52,212,609 (GRCm38) F154L probably damaging Het
Cop1 A T 1: 159,266,860 (GRCm38) probably benign Het
Cyp2c39 A G 19: 39,513,530 (GRCm38) K121R possibly damaging Het
Cyp3a57 A G 5: 145,372,619 (GRCm38) M256V probably benign Het
Deup1 T C 9: 15,582,620 (GRCm38) probably null Het
Dnah10 A G 5: 124,753,168 (GRCm38) N709D probably benign Het
Dthd1 A G 5: 62,818,766 (GRCm38) Y261C probably damaging Het
Ear-ps2 G A 14: 44,047,060 (GRCm38) noncoding transcript Het
En2 C T 5: 28,166,924 (GRCm38) T133M probably benign Het
Endou A G 15: 97,718,955 (GRCm38) F229S probably damaging Het
Etl4 A T 2: 20,529,980 (GRCm38) H79L probably damaging Het
Fah C T 7: 84,593,185 (GRCm38) probably null Het
Fetub C T 16: 22,932,331 (GRCm38) R143C probably damaging Het
Fignl1 T A 11: 11,802,640 (GRCm38) E138D probably benign Het
Fndc3a A G 14: 72,574,568 (GRCm38) L311P possibly damaging Het
Gdf9 T A 11: 53,436,754 (GRCm38) V179E probably benign Het
Gm14129 G T 2: 148,927,817 (GRCm38) noncoding transcript Het
Gorab A G 1: 163,392,509 (GRCm38) I188T probably damaging Het
Gpr152 G A 19: 4,143,129 (GRCm38) C223Y probably damaging Het
Hsd17b3 G T 13: 64,073,899 (GRCm38) T104N probably damaging Het
Il6ra C T 3: 89,885,995 (GRCm38) V283M probably benign Het
Klk1b16 A T 7: 44,137,331 (GRCm38) I5F probably damaging Het
Krt74 G A 15: 101,754,465 (GRCm38) noncoding transcript Het
Lrch3 T A 16: 32,998,590 (GRCm38) N650K probably damaging Het
Ly96 A T 1: 16,709,486 (GRCm38) E126D probably benign Het
Mgarp C A 3: 51,391,285 (GRCm38) R66L possibly damaging Het
Naalad2 T A 9: 18,330,851 (GRCm38) T586S probably damaging Het
Ndufaf3 T C 9: 108,566,444 (GRCm38) probably benign Het
Neb A G 2: 52,249,438 (GRCm38) M3055T possibly damaging Het
Neo1 G T 9: 58,931,067 (GRCm38) A478D probably damaging Het
Nmrk1 A T 19: 18,639,884 (GRCm38) probably null Het
Nsl1 T C 1: 191,080,540 (GRCm38) M184T probably benign Het
Nup133 T C 8: 123,930,966 (GRCm38) N410S probably benign Het
Olfr23 T C 11: 73,940,870 (GRCm38) I208T probably benign Het
Olfr399 A G 11: 74,053,907 (GRCm38) I284T possibly damaging Het
Olfr610 T G 7: 103,506,509 (GRCm38) I146L probably benign Het
Opalin A G 19: 41,066,531 (GRCm38) S75P probably benign Het
Palb2 C A 7: 122,114,351 (GRCm38) C903F probably damaging Het
Pcm1 T A 8: 41,287,683 (GRCm38) W989R probably damaging Het
Pfkfb4 T A 9: 109,027,593 (GRCm38) I389N probably damaging Het
Pitrm1 T C 13: 6,553,270 (GRCm38) C119R probably benign Het
Plekha1 T C 7: 130,908,376 (GRCm38) V45A probably damaging Het
Pold2 G A 11: 5,873,048 (GRCm38) P376S probably damaging Het
Rcan2 A G 17: 43,836,283 (GRCm38) D4G probably benign Het
Slc12a1 A T 2: 125,170,714 (GRCm38) T299S probably damaging Het
Slc22a29 A T 19: 8,161,516 (GRCm38) H527Q probably benign Het
Slc22a8 G A 19: 8,607,870 (GRCm38) R261H probably damaging Het
Slc35e2 C T 4: 155,610,026 (GRCm38) P10L probably benign Het
Slco4a1 T C 2: 180,474,114 (GRCm38) F681S probably benign Het
Sorcs2 A T 5: 36,031,183 (GRCm38) H860Q probably benign Het
Strn A T 17: 78,656,945 (GRCm38) H530Q probably benign Het
Tex14 A G 11: 87,551,604 (GRCm38) R179G probably damaging Het
Tjp3 T C 10: 81,279,547 (GRCm38) D350G probably benign Het
Tnrc6b G T 15: 80,916,711 (GRCm38) R1406L possibly damaging Het
Tnxb A G 17: 34,716,973 (GRCm38) D2666G probably null Het
Ttn A T 2: 76,729,864 (GRCm38) Y27652N probably benign Het
Utp20 T A 10: 88,817,896 (GRCm38) E287D probably benign Het
Vmn1r45 T C 6: 89,933,716 (GRCm38) I91V probably benign Het
Wdr72 A T 9: 74,139,699 (GRCm38) K76* probably null Het
Zfp689 C T 7: 127,444,253 (GRCm38) A402T probably damaging Het
Zfpm1 A G 8: 122,333,793 (GRCm38) E207G probably damaging Het
Zhx2 G T 15: 57,823,074 (GRCm38) R613L possibly damaging Het
Other mutations in Heatr5b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00338:Heatr5b APN 17 78,803,434 (GRCm38) missense probably damaging 1.00
IGL00418:Heatr5b APN 17 78,753,141 (GRCm38) missense probably damaging 1.00
IGL00786:Heatr5b APN 17 78,824,634 (GRCm38) missense possibly damaging 0.95
IGL00840:Heatr5b APN 17 78,765,437 (GRCm38) missense probably damaging 1.00
IGL01362:Heatr5b APN 17 78,816,338 (GRCm38) splice site probably benign
IGL01419:Heatr5b APN 17 78,796,510 (GRCm38) missense probably benign 0.19
IGL01447:Heatr5b APN 17 78,829,597 (GRCm38) missense probably benign 0.00
IGL01591:Heatr5b APN 17 78,808,472 (GRCm38) missense probably benign 0.01
IGL01743:Heatr5b APN 17 78,824,640 (GRCm38) nonsense probably null
IGL01860:Heatr5b APN 17 78,808,480 (GRCm38) missense probably damaging 0.98
IGL01862:Heatr5b APN 17 78,796,485 (GRCm38) missense possibly damaging 0.96
IGL01984:Heatr5b APN 17 78,796,497 (GRCm38) missense possibly damaging 0.63
IGL02045:Heatr5b APN 17 78,808,426 (GRCm38) missense probably damaging 1.00
IGL02097:Heatr5b APN 17 78,817,514 (GRCm38) missense probably damaging 1.00
IGL02168:Heatr5b APN 17 78,831,591 (GRCm38) unclassified probably benign
IGL02399:Heatr5b APN 17 78,827,967 (GRCm38) missense probably damaging 0.99
IGL02540:Heatr5b APN 17 78,773,572 (GRCm38) missense probably damaging 1.00
IGL02719:Heatr5b APN 17 78,815,540 (GRCm38) missense probably damaging 1.00
IGL02824:Heatr5b APN 17 78,773,680 (GRCm38) missense probably damaging 1.00
IGL02965:Heatr5b APN 17 78,753,073 (GRCm38) missense probably benign 0.37
IGL03032:Heatr5b APN 17 78,760,499 (GRCm38) missense probably benign 0.45
IGL03243:Heatr5b APN 17 78,763,080 (GRCm38) splice site probably benign
IGL03259:Heatr5b APN 17 78,791,556 (GRCm38) missense probably damaging 1.00
IGL03349:Heatr5b APN 17 78,755,320 (GRCm38) missense probably benign 0.01
R5470_heatr5b_501 UTSW 17 78,821,579 (GRCm38) splice site probably null
R0124:Heatr5b UTSW 17 78,826,217 (GRCm38) splice site probably benign
R0285:Heatr5b UTSW 17 78,808,453 (GRCm38) missense probably benign 0.05
R0335:Heatr5b UTSW 17 78,827,946 (GRCm38) missense probably benign 0.15
R0412:Heatr5b UTSW 17 78,820,854 (GRCm38) missense probably benign 0.04
R0601:Heatr5b UTSW 17 78,768,545 (GRCm38) missense probably benign
R0725:Heatr5b UTSW 17 78,796,396 (GRCm38) missense probably benign 0.03
R1178:Heatr5b UTSW 17 78,813,269 (GRCm38) missense probably damaging 1.00
R1444:Heatr5b UTSW 17 78,755,427 (GRCm38) splice site probably benign
R1444:Heatr5b UTSW 17 78,753,193 (GRCm38) missense probably benign 0.17
R1453:Heatr5b UTSW 17 78,817,563 (GRCm38) missense probably damaging 1.00
R1469:Heatr5b UTSW 17 78,808,384 (GRCm38) missense probably damaging 1.00
R1469:Heatr5b UTSW 17 78,808,384 (GRCm38) missense probably damaging 1.00
R1506:Heatr5b UTSW 17 78,753,147 (GRCm38) missense probably damaging 1.00
R1819:Heatr5b UTSW 17 78,791,511 (GRCm38) missense probably damaging 0.98
R1835:Heatr5b UTSW 17 78,773,563 (GRCm38) missense probably damaging 1.00
R1837:Heatr5b UTSW 17 78,820,751 (GRCm38) missense possibly damaging 0.54
R1934:Heatr5b UTSW 17 78,795,918 (GRCm38) missense possibly damaging 0.93
R2014:Heatr5b UTSW 17 78,814,184 (GRCm38) missense probably damaging 1.00
R2037:Heatr5b UTSW 17 78,829,505 (GRCm38) nonsense probably null
R2154:Heatr5b UTSW 17 78,831,444 (GRCm38) missense probably benign 0.00
R2190:Heatr5b UTSW 17 78,801,756 (GRCm38) missense probably damaging 1.00
R2191:Heatr5b UTSW 17 78,773,677 (GRCm38) missense probably damaging 1.00
R2413:Heatr5b UTSW 17 78,756,861 (GRCm38) critical splice donor site probably null
R3424:Heatr5b UTSW 17 78,768,404 (GRCm38) missense possibly damaging 0.58
R3607:Heatr5b UTSW 17 78,834,217 (GRCm38) missense probably damaging 1.00
R3759:Heatr5b UTSW 17 78,824,540 (GRCm38) missense possibly damaging 0.94
R3761:Heatr5b UTSW 17 78,829,642 (GRCm38) missense probably damaging 1.00
R4127:Heatr5b UTSW 17 78,753,174 (GRCm38) missense possibly damaging 0.48
R4242:Heatr5b UTSW 17 78,756,922 (GRCm38) missense probably benign 0.00
R4345:Heatr5b UTSW 17 78,760,511 (GRCm38) missense possibly damaging 0.94
R4534:Heatr5b UTSW 17 78,810,596 (GRCm38) missense possibly damaging 0.91
R4623:Heatr5b UTSW 17 78,795,119 (GRCm38) missense possibly damaging 0.52
R4654:Heatr5b UTSW 17 78,820,701 (GRCm38) missense possibly damaging 0.95
R4939:Heatr5b UTSW 17 78,762,260 (GRCm38) missense probably benign 0.18
R4960:Heatr5b UTSW 17 78,831,584 (GRCm38) missense probably benign 0.01
R5037:Heatr5b UTSW 17 78,824,510 (GRCm38) missense probably benign 0.00
R5051:Heatr5b UTSW 17 78,795,274 (GRCm38) missense probably damaging 1.00
R5153:Heatr5b UTSW 17 78,795,107 (GRCm38) nonsense probably null
R5328:Heatr5b UTSW 17 78,826,362 (GRCm38) missense possibly damaging 0.94
R5346:Heatr5b UTSW 17 78,827,986 (GRCm38) missense probably benign 0.44
R5426:Heatr5b UTSW 17 78,773,713 (GRCm38) missense probably damaging 1.00
R5472:Heatr5b UTSW 17 78,801,660 (GRCm38) missense probably damaging 1.00
R5553:Heatr5b UTSW 17 78,753,351 (GRCm38) splice site probably null
R5706:Heatr5b UTSW 17 78,766,875 (GRCm38) splice site probably null
R5804:Heatr5b UTSW 17 78,831,522 (GRCm38) missense probably damaging 0.97
R5978:Heatr5b UTSW 17 78,806,036 (GRCm38) missense probably damaging 0.99
R6122:Heatr5b UTSW 17 78,813,173 (GRCm38) missense possibly damaging 0.96
R6153:Heatr5b UTSW 17 78,831,441 (GRCm38) missense possibly damaging 0.56
R6220:Heatr5b UTSW 17 78,773,677 (GRCm38) missense probably damaging 1.00
R6221:Heatr5b UTSW 17 78,766,954 (GRCm38) missense probably benign 0.05
R6255:Heatr5b UTSW 17 78,803,434 (GRCm38) missense probably damaging 1.00
R6291:Heatr5b UTSW 17 78,762,097 (GRCm38) missense probably benign 0.08
R6455:Heatr5b UTSW 17 78,753,073 (GRCm38) missense probably benign 0.37
R6524:Heatr5b UTSW 17 78,814,106 (GRCm38) missense possibly damaging 0.94
R6575:Heatr5b UTSW 17 78,762,989 (GRCm38) missense probably damaging 1.00
R6899:Heatr5b UTSW 17 78,803,509 (GRCm38) missense probably benign 0.03
R7084:Heatr5b UTSW 17 78,810,563 (GRCm38) missense possibly damaging 0.68
R7138:Heatr5b UTSW 17 78,827,988 (GRCm38) missense probably damaging 1.00
R7148:Heatr5b UTSW 17 78,831,434 (GRCm38) missense probably damaging 0.99
R7382:Heatr5b UTSW 17 78,803,507 (GRCm38) missense possibly damaging 0.64
R7420:Heatr5b UTSW 17 78,808,480 (GRCm38) missense probably damaging 1.00
R7436:Heatr5b UTSW 17 78,768,533 (GRCm38) missense probably benign
R7519:Heatr5b UTSW 17 78,755,217 (GRCm38) missense probably benign
R7606:Heatr5b UTSW 17 78,763,026 (GRCm38) missense probably benign
R7673:Heatr5b UTSW 17 78,795,983 (GRCm38) missense probably damaging 0.97
R7782:Heatr5b UTSW 17 78,795,941 (GRCm38) missense probably damaging 0.99
R7790:Heatr5b UTSW 17 78,818,823 (GRCm38) missense probably damaging 0.99
R7922:Heatr5b UTSW 17 78,760,559 (GRCm38) missense probably benign 0.01
R8184:Heatr5b UTSW 17 78,814,233 (GRCm38) missense probably benign 0.03
R8222:Heatr5b UTSW 17 78,801,701 (GRCm38) missense possibly damaging 0.95
R8276:Heatr5b UTSW 17 78,791,539 (GRCm38) nonsense probably null
R8324:Heatr5b UTSW 17 78,755,364 (GRCm38) missense possibly damaging 0.85
R8430:Heatr5b UTSW 17 78,829,624 (GRCm38) missense probably damaging 0.97
R8432:Heatr5b UTSW 17 78,803,501 (GRCm38) missense probably damaging 0.99
R8672:Heatr5b UTSW 17 78,762,203 (GRCm38) missense probably damaging 1.00
R8781:Heatr5b UTSW 17 78,795,309 (GRCm38) missense probably benign 0.19
R8794:Heatr5b UTSW 17 78,815,586 (GRCm38) missense probably benign 0.00
R8808:Heatr5b UTSW 17 78,765,405 (GRCm38) missense possibly damaging 0.92
R8850:Heatr5b UTSW 17 78,801,759 (GRCm38) missense probably benign 0.02
R8893:Heatr5b UTSW 17 78,761,995 (GRCm38) splice site probably benign
R9010:Heatr5b UTSW 17 78,773,710 (GRCm38) missense probably damaging 1.00
R9041:Heatr5b UTSW 17 78,796,432 (GRCm38) missense probably benign 0.12
R9150:Heatr5b UTSW 17 78,796,019 (GRCm38) missense probably benign
R9253:Heatr5b UTSW 17 78,827,994 (GRCm38) missense probably benign 0.13
R9318:Heatr5b UTSW 17 78,765,402 (GRCm38) missense probably benign 0.07
R9448:Heatr5b UTSW 17 78,760,586 (GRCm38) missense probably benign 0.26
R9489:Heatr5b UTSW 17 78,753,250 (GRCm38) nonsense probably null
R9649:Heatr5b UTSW 17 78,834,095 (GRCm38) critical splice donor site probably null
X0022:Heatr5b UTSW 17 78,760,545 (GRCm38) missense probably benign 0.38
Predicted Primers PCR Primer
(F):5'- GTACCTATGGACGCTTCCTG -3'
(R):5'- TCTGTTCAACAGCGTTTTAATGTCC -3'

Sequencing Primer
(F):5'- CCTATGGACGCTTCCTGAATAAGAG -3'
(R):5'- CGAAGCTTCATGACCTGAGTTCAG -3'
Posted On 2016-10-06