Incidental Mutation 'R6220:Heatr5b'
ID 503980
Institutional Source Beutler Lab
Gene Symbol Heatr5b
Ensembl Gene ENSMUSG00000039414
Gene Name HEAT repeat containing 5B
Synonyms A230048G03Rik, D330050P16Rik, 2010013B10Rik
MMRRC Submission 044352-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.350) question?
Stock # R6220 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 79060327-79142793 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 79081106 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 1382 (L1382P)
Ref Sequence ENSEMBL: ENSMUSP00000094882 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000097281]
AlphaFold Q8C547
Predicted Effect probably damaging
Transcript: ENSMUST00000097281
AA Change: L1382P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000094882
Gene: ENSMUSG00000039414
AA Change: L1382P

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 0.6670 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.3%
Validation Efficiency 100% (65/65)
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd16b A G 2: 181,135,578 (GRCm39) D160G probably damaging Het
Acap1 A G 11: 69,780,505 (GRCm39) F15S probably damaging Het
Adam30 A T 3: 98,068,625 (GRCm39) S153C probably damaging Het
Afp A T 5: 90,652,269 (GRCm39) D420V possibly damaging Het
Ak9 T A 10: 41,246,095 (GRCm39) H729Q unknown Het
Armh3 T C 19: 45,834,554 (GRCm39) E618G possibly damaging Het
Arsi G A 18: 61,049,723 (GRCm39) G202E probably benign Het
Bcr A G 10: 74,898,124 (GRCm39) T423A probably benign Het
Cc2d1b C T 4: 108,490,422 (GRCm39) R825W probably damaging Het
Ctns T C 11: 73,083,954 (GRCm39) T23A probably benign Het
Ddx54 T A 5: 120,758,754 (GRCm39) N332K probably benign Het
Dysf T A 6: 84,126,727 (GRCm39) I1344N probably damaging Het
Elovl3 A T 19: 46,122,939 (GRCm39) M172L probably benign Het
Fbxo6 A T 4: 148,233,979 (GRCm39) I39N probably damaging Het
Filip1l T A 16: 57,390,352 (GRCm39) N313K probably benign Het
Foxp2 C A 6: 15,437,947 (GRCm39) T716K probably damaging Het
Gm10549 C A 18: 33,597,358 (GRCm39) probably benign Het
Gm10645 A G 8: 83,892,386 (GRCm39) probably benign Het
Gm10735 T C 13: 113,178,030 (GRCm39) probably benign Het
Gm4847 A T 1: 166,462,541 (GRCm39) D316E probably damaging Het
Gorasp2 T C 2: 70,521,134 (GRCm39) L388P probably damaging Het
Herc1 A G 9: 66,341,070 (GRCm39) Y1729C probably damaging Het
Ifi207 A T 1: 173,557,112 (GRCm39) L542H probably damaging Het
Ighv3-5 T A 12: 114,226,338 (GRCm39) N96I probably damaging Het
Isl1 T C 13: 116,439,803 (GRCm39) T182A probably benign Het
Jph4 T C 14: 55,347,542 (GRCm39) E421G probably benign Het
Lrrc45 T C 11: 120,610,353 (GRCm39) I488T probably benign Het
Mroh8 A G 2: 157,075,083 (GRCm39) I471T probably benign Het
Ms4a2 A T 19: 11,594,927 (GRCm39) D96E probably damaging Het
Mst1r T A 9: 107,784,547 (GRCm39) N68K probably benign Het
Myo18b A G 5: 112,905,373 (GRCm39) M2075T possibly damaging Het
Neb T C 2: 52,160,984 (GRCm39) K2229R probably null Het
Nkx6-3 T A 8: 23,643,987 (GRCm39) probably null Het
Nlrp1a C A 11: 71,033,164 (GRCm39) S10I probably benign Het
Npas2 A T 1: 39,375,142 (GRCm39) T487S probably benign Het
Nrxn1 G C 17: 91,395,904 (GRCm39) T84R probably benign Het
Or4k2 C A 14: 50,424,135 (GRCm39) D180Y probably damaging Het
Otx1 C A 11: 21,947,037 (GRCm39) A91S probably damaging Het
Pcdh18 A G 3: 49,699,700 (GRCm39) C921R probably damaging Het
Pcdha9 A G 18: 37,131,531 (GRCm39) Y200C probably damaging Het
Pknox1 A T 17: 31,822,177 (GRCm39) R315* probably null Het
Rasgrp1 C T 2: 117,115,410 (GRCm39) W726* probably null Het
Rassf8 G A 6: 145,762,859 (GRCm39) R402H probably damaging Het
Rev3l T A 10: 39,698,775 (GRCm39) Y1091N probably damaging Het
Riok3 T G 18: 12,282,608 (GRCm39) V349G probably damaging Het
Rps18 A T 17: 34,174,110 (GRCm39) V15E probably damaging Het
Rptor A T 11: 119,788,268 (GRCm39) Y1323F possibly damaging Het
Rspry1 T C 8: 95,385,378 (GRCm39) C437R probably damaging Het
Sema5a T A 15: 32,686,875 (GRCm39) Y996N probably damaging Het
Smarcad1 A G 6: 65,091,313 (GRCm39) I1011M probably benign Het
Supv3l1 A T 10: 62,274,800 (GRCm39) M295K possibly damaging Het
Sv2c T C 13: 96,113,134 (GRCm39) D605G probably damaging Het
Teddm1b G A 1: 153,750,947 (GRCm39) W252* probably null Het
Tes T A 6: 17,086,195 (GRCm39) C29* probably null Het
Thsd4 A G 9: 59,890,030 (GRCm39) W856R probably damaging Het
Treml4 A T 17: 48,571,876 (GRCm39) D93V possibly damaging Het
Trim66 T C 7: 109,082,300 (GRCm39) T218A probably damaging Het
Tssk5 T C 15: 76,257,973 (GRCm39) D128G probably damaging Het
Ubr3 T A 2: 69,850,819 (GRCm39) W1746R probably damaging Het
Vmn2r11 T C 5: 109,201,434 (GRCm39) I357V probably benign Het
Vmn2r87 A T 10: 130,315,807 (GRCm39) D86E probably benign Het
Zfp184 T G 13: 22,144,377 (GRCm39) H694Q probably damaging Het
Zranb3 A C 1: 127,927,141 (GRCm39) F341L probably benign 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
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
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'- GCTTTGCCAAGGACTGATTG -3'
(R):5'- GGAAACTCAGTGCTGCTCTG -3'

Sequencing Primer
(F):5'- GTTGTAACACACAGAGGGTTCTCC -3'
(R):5'- AAACTCAGTGCTGCTCTGTTTTG -3'
Posted On 2018-02-27