Incidental Mutation 'R1506:Heatr5b'
ID 167962
Institutional Source Beutler Lab
Gene Symbol Heatr5b
Ensembl Gene ENSMUSG00000039414
Gene Name HEAT repeat containing 5B
Synonyms A230048G03Rik, D330050P16Rik, 2010013B10Rik
MMRRC Submission 039554-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.350) question?
Stock # R1506 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 79060327-79142793 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 79060576 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 2033 (R2033L)
Ref Sequence ENSEMBL: ENSMUSP00000094882 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000097281]
AlphaFold Q8C547
Predicted Effect probably damaging
Transcript: ENSMUST00000097281
AA Change: R2033L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000094882
Gene: ENSMUSG00000039414
AA Change: R2033L

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 0.2986 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.7%
Validation Efficiency 98% (61/62)
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc3 G T 11: 94,248,144 (GRCm39) T1152K possibly damaging Het
Acp3 T A 9: 104,201,373 (GRCm39) T82S probably damaging Het
Adam23 C T 1: 63,586,973 (GRCm39) P445S probably benign Het
Ap3b1 T A 13: 94,582,651 (GRCm39) probably benign Het
Artn A G 4: 117,784,058 (GRCm39) V136A probably damaging Het
Ash1l A G 3: 88,965,806 (GRCm39) T2403A probably damaging Het
Bbof1 G T 12: 84,470,273 (GRCm39) V120L probably damaging Het
Boc A G 16: 44,323,928 (GRCm39) Y158H probably damaging Het
Casp8 A G 1: 58,863,355 (GRCm39) E105G probably damaging Het
Cers4 T C 8: 4,570,557 (GRCm39) F206L probably benign Het
Chrna9 A G 5: 66,126,479 (GRCm39) T78A probably benign Het
Creb3 A T 4: 43,566,193 (GRCm39) T263S possibly damaging Het
Cyp2c40 A G 19: 39,766,443 (GRCm39) V384A probably damaging Het
Dip2b G A 15: 100,080,994 (GRCm39) V879M probably damaging Het
Dnah17 C A 11: 118,016,213 (GRCm39) V14F possibly damaging Het
Epb41l4b T A 4: 57,088,824 (GRCm39) K144N probably damaging Het
Ercc6 A T 14: 32,291,821 (GRCm39) I1062F probably benign Het
Fabp3 C T 4: 130,206,180 (GRCm39) T57I probably benign Het
Fat2 C A 11: 55,175,090 (GRCm39) E1874D probably benign Het
Fbxw21 T A 9: 108,977,257 (GRCm39) I151F probably damaging Het
Fhip2a A G 19: 57,357,007 (GRCm39) I33V probably benign Het
Foxn1 A G 11: 78,256,761 (GRCm39) probably benign Het
Gpr63 G A 4: 25,008,227 (GRCm39) R317H probably damaging Het
Grip1 C A 10: 119,814,356 (GRCm39) H296N probably damaging Het
Gtdc1 A T 2: 44,465,506 (GRCm39) M288K possibly damaging Het
Guf1 T A 5: 69,724,509 (GRCm39) D488E possibly damaging Het
Gvin3 C T 7: 106,200,788 (GRCm39) D819N probably benign Het
Hsd17b2 T A 8: 118,429,004 (GRCm39) probably null Het
Ino80 A T 2: 119,255,746 (GRCm39) L913* probably null Het
Inppl1 A C 7: 101,473,174 (GRCm39) S1159A probably benign Het
Kcnk7 G A 19: 5,756,140 (GRCm39) C122Y probably damaging Het
Mtor A G 4: 148,620,962 (GRCm39) probably benign Het
Muc4 A T 16: 32,574,033 (GRCm39) S704C possibly damaging Het
Nckap5 A T 1: 125,953,650 (GRCm39) C967* probably null Het
Nek10 T C 14: 14,999,078 (GRCm38) probably benign Het
Oas1h A T 5: 121,009,951 (GRCm39) D342V possibly damaging Het
Or10j2 A G 1: 173,098,336 (GRCm39) N198S probably benign Het
Or2ak7 T A 11: 58,575,014 (GRCm39) L105Q probably benign Het
Or2n1 A T 17: 38,486,091 (GRCm39) M39L probably benign Het
Or4m1 A G 14: 50,557,941 (GRCm39) V117A probably benign Het
Or8b1b T C 9: 38,375,439 (GRCm39) M34T probably benign Het
Prex1 A T 2: 166,429,001 (GRCm39) V694E probably damaging Het
Rad50 G A 11: 53,570,312 (GRCm39) A810V probably damaging Het
Rcor1 T C 12: 111,076,271 (GRCm39) S410P probably damaging Het
Rps14 A T 18: 60,909,551 (GRCm39) N26I probably benign Het
Slc38a1 T C 15: 96,483,431 (GRCm39) D299G probably benign Het
Slc5a1 T A 5: 33,312,052 (GRCm39) N481K possibly damaging Het
Slco3a1 A T 7: 74,009,683 (GRCm39) probably null Het
Spart T C 3: 55,024,992 (GRCm39) S196P probably damaging Het
Speg A G 1: 75,394,307 (GRCm39) T1701A probably benign Het
Sugt1 A G 14: 79,862,365 (GRCm39) N271S probably benign Het
Tbx15 A T 3: 99,259,228 (GRCm39) L366F possibly damaging Het
Tnc G A 4: 63,925,921 (GRCm39) T953I possibly damaging Het
Uqcc1 A G 2: 155,753,738 (GRCm39) S46P probably damaging Het
Vmn2r18 T C 5: 151,499,099 (GRCm39) probably null Het
Vmn2r7 T A 3: 64,614,500 (GRCm39) Y438F probably benign Het
Vmn2r72 T A 7: 85,398,419 (GRCm39) K520N probably benign Het
Vps52 T C 17: 34,176,868 (GRCm39) L74P probably damaging Het
Xpo5 G T 17: 46,538,814 (GRCm39) M673I probably benign Het
Zscan18 A G 7: 12,508,129 (GRCm39) V457A 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
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
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'- TCACTCATGCAAGCTGTCCACC -3'
(R):5'- GTCAGGCCAGTGATTTCTGTCCTC -3'

Sequencing Primer
(F):5'- AGAATGTACTGTATGAATGCTCTGTG -3'
(R):5'- GTTACAGGAGTCCAGTTACTCGC -3'
Posted On 2014-04-13