Incidental Mutation 'IGL01862:Heatr5b'
ID 178351
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Heatr5b
Ensembl Gene ENSMUSG00000039414
Gene Name HEAT repeat containing 5B
Synonyms A230048G03Rik, D330050P16Rik, 2010013B10Rik
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.350) question?
Stock # IGL01862
Quality Score
Status
Chromosome 17
Chromosomal Location 79060327-79142793 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 79103914 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 1087 (V1087E)
Ref Sequence ENSEMBL: ENSMUSP00000094882 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000097281]
AlphaFold Q8C547
Predicted Effect possibly damaging
Transcript: ENSMUST00000097281
AA Change: V1087E

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000094882
Gene: ENSMUSG00000039414
AA Change: V1087E

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
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b G T 11: 109,837,997 (GRCm39) S1085* probably null Het
Akap9 T G 5: 4,001,705 (GRCm39) S94A probably damaging Het
Akap9 T A 5: 4,115,856 (GRCm39) N3425K probably damaging Het
Anapc7 T A 5: 122,578,182 (GRCm39) I389N probably benign Het
Aqp7 G A 4: 41,045,321 (GRCm39) R20* probably null Het
Cacna1h C T 17: 25,602,457 (GRCm39) G1524R probably damaging Het
Cacng4 T C 11: 107,685,196 (GRCm39) Y32C probably damaging Het
Cep120 A C 18: 53,847,839 (GRCm39) S673R probably benign Het
Cep162 T C 9: 87,135,986 (GRCm39) E19G possibly damaging Het
Cpxm2 C T 7: 131,661,540 (GRCm39) V416I probably benign Het
Dapk1 A G 13: 60,874,424 (GRCm39) T427A probably benign Het
Ecm1 A T 3: 95,641,586 (GRCm39) D549E probably benign Het
Efemp1 T A 11: 28,871,428 (GRCm39) N342K probably damaging Het
Erc2 T C 14: 27,993,526 (GRCm39) probably benign Het
Fhip2b C T 14: 70,825,130 (GRCm39) R402H probably benign Het
Galnt13 T C 2: 54,747,926 (GRCm39) V269A probably damaging Het
Gm6465 T G 5: 11,899,020 (GRCm39) L171R probably damaging Het
Gpatch1 A G 7: 34,994,703 (GRCm39) V521A probably benign Het
Ikzf2 A T 1: 69,578,057 (GRCm39) V484D probably damaging Het
Ints4 T A 7: 97,190,360 (GRCm39) V953E probably damaging Het
Iqce T C 5: 140,685,480 (GRCm39) D15G possibly damaging Het
Kif3a T A 11: 53,461,368 (GRCm39) N4K possibly damaging Het
Lrch4 A T 5: 137,635,271 (GRCm39) I254F probably damaging Het
Ly75 A T 2: 60,129,516 (GRCm39) V1623D probably damaging Het
Mapt T A 11: 104,180,828 (GRCm39) probably benign Het
Mast1 A T 8: 85,639,875 (GRCm39) probably null Het
Mcc G T 18: 44,892,363 (GRCm39) Q84K probably benign Het
Mgat4f G A 1: 134,318,349 (GRCm39) V374I probably benign Het
Mtfr2 G A 10: 20,224,149 (GRCm39) V28M probably benign Het
Myh8 T A 11: 67,180,520 (GRCm39) Y585* probably null Het
Napsa T C 7: 44,231,917 (GRCm39) V202A probably damaging Het
Nsd2 A G 5: 34,001,080 (GRCm39) K199R probably null Het
Ntpcr C T 8: 126,462,837 (GRCm39) A18V probably benign Het
Or2aj4 A T 16: 19,385,426 (GRCm39) M69K probably damaging Het
Or2g25 G T 17: 37,970,368 (GRCm39) N285K probably damaging Het
Or56b35 T A 7: 104,963,439 (GRCm39) I76N probably damaging Het
Or5g9 G T 2: 85,552,472 (GRCm39) C241F probably damaging Het
Or8b9 A G 9: 37,766,477 (GRCm39) D121G probably damaging Het
Os9 A G 10: 126,935,573 (GRCm39) V299A probably benign Het
Pcdhb7 T C 18: 37,476,915 (GRCm39) S684P possibly damaging Het
Phf19 A C 2: 34,787,067 (GRCm39) probably null Het
Pkd1l3 G A 8: 110,357,908 (GRCm39) probably null Het
Pkhd1 A G 1: 20,429,134 (GRCm39) I2422T probably damaging Het
Plxna2 T A 1: 194,326,258 (GRCm39) V64E possibly damaging Het
Psme4 T A 11: 30,762,038 (GRCm39) C459* probably null Het
Ptk6 T C 2: 180,841,433 (GRCm39) S159G probably benign Het
Rhd T C 4: 134,617,650 (GRCm39) I329T possibly damaging Het
Scfd1 A G 12: 51,492,494 (GRCm39) Y601C probably damaging Het
Shroom3 T C 5: 93,110,148 (GRCm39) S1753P probably damaging Het
Slc8a1 A C 17: 81,749,630 (GRCm39) probably null Het
Spg7 T A 8: 123,803,669 (GRCm39) L233Q probably damaging Het
Strip1 C A 3: 107,529,198 (GRCm39) R353L probably damaging Het
Ubr1 T C 2: 120,764,823 (GRCm39) N544D possibly damaging Het
Ubr4 A G 4: 139,204,469 (GRCm39) T4794A possibly damaging Het
Usp24 A G 4: 106,266,095 (GRCm39) probably benign Het
Vmn1r193 A T 13: 22,403,984 (GRCm39) C3S probably benign Het
Yju2b G T 8: 84,987,163 (GRCm39) probably benign Het
Zdhhc5 C T 2: 84,520,836 (GRCm39) R447H probably benign Het
Zfp202 A G 9: 40,123,124 (GRCm39) I629V probably benign Het
Zfp462 T A 4: 55,023,441 (GRCm39) C990S 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
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
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
Posted On 2014-05-07