Incidental Mutation 'R5426:Heatr5b'
ID 426925
Institutional Source Beutler Lab
Gene Symbol Heatr5b
Ensembl Gene ENSMUSG00000039414
Gene Name HEAT repeat containing 5B
Synonyms A230048G03Rik, D330050P16Rik, 2010013B10Rik
MMRRC Submission 042992-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.350) question?
Stock # R5426 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 79060327-79142793 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 79081142 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Tyrosine at position 1370 (C1370Y)
Ref Sequence ENSEMBL: ENSMUSP00000094882 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000097281]
AlphaFold Q8C547
Predicted Effect probably damaging
Transcript: ENSMUST00000097281
AA Change: C1370Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000094882
Gene: ENSMUSG00000039414
AA Change: C1370Y

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 0.9607 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.6%
Validation Efficiency 97% (85/88)
Allele List at MGI
Other mutations in this stock
Total: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010315B03Rik T A 9: 124,056,633 (GRCm39) H122L probably damaging Het
9330182O14Rik G A 15: 40,011,932 (GRCm39) M90I unknown Het
9330182O14Rik G A 15: 40,011,933 (GRCm39) D91N unknown Het
Abca13 T A 11: 9,240,722 (GRCm39) S862T probably damaging Het
Acyp2 C T 11: 30,456,354 (GRCm39) E98K possibly damaging Het
Adgb C A 10: 10,226,004 (GRCm39) A1405S probably benign Het
Adpgk T A 9: 59,204,832 (GRCm39) V86E probably damaging Het
Agfg2 G C 5: 137,666,020 (GRCm39) P80A probably damaging Het
Akap11 G A 14: 78,736,304 (GRCm39) Q1829* probably null Het
Aldh1l1 G A 6: 90,536,281 (GRCm39) R62Q probably benign Het
Amd1 G T 10: 40,166,183 (GRCm39) D265E probably damaging Het
Aox4 A T 1: 58,259,253 (GRCm39) Q106L probably damaging Het
Arap2 A T 5: 62,800,159 (GRCm39) N1289K probably benign Het
Arhgef12 T C 9: 42,897,880 (GRCm39) S874G probably damaging Het
Ccdc166 T C 15: 75,853,945 (GRCm39) Q45R possibly damaging Het
Cdc45 C T 16: 18,614,647 (GRCm39) R205H probably damaging Het
Cdk14 A G 5: 4,938,975 (GRCm39) S388P possibly damaging Het
Chgb A T 2: 132,635,453 (GRCm39) Q465L possibly damaging Het
Commd9 T A 2: 101,729,220 (GRCm39) W109R probably damaging Het
Cspg4b G A 13: 113,505,587 (GRCm39) V2239I probably benign Het
Cyp2b9 T C 7: 25,887,080 (GRCm39) V163A probably benign Het
Dcpp2 T A 17: 24,118,287 (GRCm39) H27Q possibly damaging Het
Ddn T A 15: 98,704,347 (GRCm39) E315V possibly damaging Het
Defb29 C A 2: 152,380,868 (GRCm39) C47F probably damaging Het
Dnah7b T C 1: 46,281,366 (GRCm39) M2809T possibly damaging Het
Dock4 A T 12: 40,795,744 (GRCm39) I854F probably damaging Het
Dsg4 T C 18: 20,591,541 (GRCm39) Y427H probably damaging Het
E130114P18Rik C T 4: 97,578,907 (GRCm39) A23T unknown Het
Flacc1 T A 1: 58,706,045 (GRCm39) K275* probably null Het
Gemin5 A G 11: 58,016,113 (GRCm39) S1297P probably benign Het
Gm10309 A C 17: 86,806,161 (GRCm39) probably benign Het
Gpatch11 T A 17: 79,148,663 (GRCm39) S155R possibly damaging Het
Grin2b C A 6: 135,709,366 (GRCm39) Q1393H probably damaging Het
Hmcn2 C T 2: 31,226,556 (GRCm39) T177I possibly damaging Het
Ildr1 A T 16: 36,529,981 (GRCm39) I123F probably damaging Het
Kalrn A T 16: 34,083,023 (GRCm39) V644D probably damaging Het
Kifap3 A G 1: 163,607,440 (GRCm39) M1V probably null Het
Klhl11 A G 11: 100,354,942 (GRCm39) L293P probably damaging Het
Klrc3 G A 6: 129,618,513 (GRCm39) S98L probably benign Het
Lrrc37 A T 11: 103,511,586 (GRCm39) H127Q unknown Het
Med12l G A 3: 59,156,143 (GRCm39) M1220I probably damaging Het
Ms4a7 C T 19: 11,303,166 (GRCm39) probably null Het
Mybpc2 A G 7: 44,159,253 (GRCm39) V599A probably benign Het
Naalad2 T C 9: 18,258,815 (GRCm39) N487D probably benign Het
Nat8f7 T G 6: 85,684,805 (GRCm39) S12R probably benign Het
Nefm T A 14: 68,357,515 (GRCm39) probably benign Het
Nlrp5 T C 7: 23,117,626 (GRCm39) V450A probably damaging Het
Nps G A 7: 134,870,376 (GRCm39) probably null Het
Or13c7d A G 4: 43,770,168 (GRCm39) I281T probably benign Het
Or2ag16 C A 7: 106,351,773 (GRCm39) S274I probably benign Het
Or4a74 T C 2: 89,440,083 (GRCm39) Y121C probably damaging Het
Or4b13 T A 2: 90,082,955 (GRCm39) K126* probably null Het
Or5e1 T C 7: 108,354,924 (GRCm39) L287P possibly damaging Het
Or5h24 G T 16: 58,918,665 (GRCm39) P230Q possibly damaging Het
Or5p67 T C 7: 107,922,017 (GRCm39) N289D probably damaging Het
Oxct2a C A 4: 123,216,506 (GRCm39) G292W possibly damaging Het
Pramel32 T A 4: 88,547,647 (GRCm39) probably benign Het
Prr27 T C 5: 87,998,744 (GRCm39) probably benign Het
Ptx3 T C 3: 66,128,143 (GRCm39) M68T probably damaging Het
Rufy1 A G 11: 50,312,561 (GRCm39) L131S probably damaging Het
Septin7 T A 9: 25,197,986 (GRCm39) I100N possibly damaging Het
Sgms2 T C 3: 131,135,446 (GRCm39) I143V probably benign Het
Slc25a34 A G 4: 141,350,877 (GRCm39) V44A probably damaging Het
Slc28a3 T A 13: 58,710,968 (GRCm39) D518V probably damaging Het
Slc6a7 C T 18: 61,136,308 (GRCm39) probably null Het
Slco4a1 C A 2: 180,113,028 (GRCm39) A420D possibly damaging Het
Smap1 T C 1: 23,888,471 (GRCm39) T180A probably benign Het
Specc1l T C 10: 75,103,384 (GRCm39) S920P probably benign Het
Tgtp2 A G 11: 48,950,083 (GRCm39) M163T probably benign Het
Tiam1 G T 16: 89,662,280 (GRCm39) Q613K possibly damaging Het
Vsig10l T A 7: 43,114,247 (GRCm39) S190T probably damaging Het
Vwa3b A G 1: 37,154,752 (GRCm39) Y512C probably damaging Het
Wdfy3 T A 5: 102,067,312 (GRCm39) N1207Y probably damaging Het
Wdr17 C T 8: 55,134,434 (GRCm39) G349R probably damaging Het
Wdr70 A G 15: 7,951,586 (GRCm39) L417S possibly damaging Het
Wdr81 A C 11: 75,341,722 (GRCm39) S1182A possibly damaging Het
Zfp458 A T 13: 67,405,256 (GRCm39) C391* probably null Het
Zfp638 A G 6: 83,953,396 (GRCm39) E1167G probably damaging Het
Zfp763 T A 17: 33,238,569 (GRCm39) D192V probably benign Het
Zfp853 T G 5: 143,274,624 (GRCm39) Q332P unknown 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
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'- TGTAGGCCATGCTTACCTCTG -3'
(R):5'- TTAGGAGATGAGTTCAGAGCCACC -3'

Sequencing Primer
(F):5'- TCTGCCCATGCCTTAAGAACGG -3'
(R):5'- AGTTCAGAGCCACCTTGTG -3'
Posted On 2016-09-01