Incidental Mutation 'R9649:Heatr5b'
ID 727005
Institutional Source Beutler Lab
Gene Symbol Heatr5b
Ensembl Gene ENSMUSG00000039414
Gene Name HEAT repeat containing 5B
Synonyms A230048G03Rik, D330050P16Rik, 2010013B10Rik
MMRRC Submission
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.350) question?
Stock # R9649 (G1)
Quality Score 225.009
Status Not validated
Chromosome 17
Chromosomal Location 79060327-79142793 bp(-) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) C to T at 79141524 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000094882 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000097281] [ENSMUST00000170759]
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
Predicted Effect probably benign
Transcript: ENSMUST00000170759
SMART Domains Protein: ENSMUSP00000126814
Gene: ENSMUSG00000050668

DomainStartEndE-ValueType
G_patch 71 117 5.8e-14 SMART
DUF4187 195 263 1.51e-25 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 103 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700010B08Rik A T 2: 173,561,706 (GRCm39) H5L unknown Het
Aatk A G 11: 119,901,733 (GRCm39) S888P probably damaging Het
Ahnak A T 19: 8,985,786 (GRCm39) K2357* probably null Het
Arl9 T A 5: 77,155,139 (GRCm39) L90Q probably damaging Het
Atosa A G 9: 74,924,349 (GRCm39) D864G possibly damaging Het
Atxn2 T C 5: 121,949,055 (GRCm39) V1144A probably damaging Het
Batf3 C T 1: 190,830,623 (GRCm39) probably benign Het
Bltp3b C A 10: 89,626,593 (GRCm39) T429K probably benign Het
Brpf3 G A 17: 29,037,597 (GRCm39) E822K probably benign Het
Cabin1 T A 10: 75,575,239 (GRCm39) Q602L probably damaging Het
Cadps T C 14: 12,597,418 (GRCm38) E424G probably damaging Het
Camta1 A G 4: 151,216,004 (GRCm39) L972P possibly damaging Het
Ccdc159 A G 9: 21,840,672 (GRCm39) N80D possibly damaging Het
Cdh1 A C 8: 107,388,604 (GRCm39) E553D possibly damaging Het
Cdk14 T A 5: 5,423,477 (GRCm39) E35V probably benign Het
Cfap70 A G 14: 20,450,546 (GRCm39) L995P probably damaging Het
Col18a1 T A 10: 76,916,673 (GRCm39) E334V unknown Het
Colec12 T A 18: 9,877,000 (GRCm39) I741K unknown Het
Crot A G 5: 9,024,170 (GRCm39) V342A probably benign Het
Ctnnal1 A G 4: 56,865,036 (GRCm39) S27P possibly damaging Het
Cyp2j9 A G 4: 96,460,193 (GRCm39) S437P probably damaging Het
Dennd4c A T 4: 86,743,160 (GRCm39) T1001S probably benign Het
Dffa G A 4: 149,202,276 (GRCm39) V227I probably benign Het
Dnaaf5 T A 5: 139,159,909 (GRCm39) H602Q probably benign Het
Efcab7 G T 4: 99,761,902 (GRCm39) K397N probably damaging Het
Egfl6 C T X: 165,319,235 (GRCm39) V379I probably benign Het
Fadd G A 7: 144,134,384 (GRCm39) T167I probably benign Het
Fam184b T C 5: 45,796,484 (GRCm39) D33G probably damaging Het
Fam237b C T 5: 5,625,549 (GRCm39) Q82* probably null Het
Fam83h G A 15: 75,877,976 (GRCm39) R141W probably damaging Het
Fanci G A 7: 79,076,954 (GRCm39) R564Q probably damaging Het
Fat3 A T 9: 15,908,054 (GRCm39) D2649E possibly damaging Het
Fcrl1 A G 3: 87,291,918 (GRCm39) T46A possibly damaging Het
Fig4 C T 10: 41,143,763 (GRCm39) G232D probably benign Het
Frem3 A T 8: 81,341,145 (GRCm39) H1146L probably damaging Het
Fyttd1 T A 16: 32,715,472 (GRCm39) F133L probably benign Het
Gata2 A G 6: 88,179,505 (GRCm39) N326D probably damaging Het
Gm7298 A T 6: 121,764,491 (GRCm39) T1457S probably damaging Het
Hdac1-ps A T 17: 78,799,075 (GRCm39) Y22F probably benign Het
Hfm1 T A 5: 107,066,329 (GRCm39) D33V possibly damaging Het
Hmcn2 G A 2: 31,292,450 (GRCm39) A2447T possibly damaging Het
Hs3st3b1 A G 11: 63,812,331 (GRCm39) F128S probably benign Het
Hs3st6 G T 17: 24,972,226 (GRCm39) R56L possibly damaging Het
Hsd17b3 C T 13: 64,212,171 (GRCm39) M168I probably damaging Het
Ighv1-34 G T 12: 114,814,885 (GRCm39) D92E possibly damaging Het
Itgb4 A T 11: 115,885,171 (GRCm39) I1018F possibly damaging Het
Itih3 T C 14: 30,637,605 (GRCm39) D518G possibly damaging Het
Kcnma1 C T 14: 23,501,666 (GRCm39) probably null Het
Klhl11 A T 11: 100,363,506 (GRCm39) S17T probably benign Het
Lilra6 T C 7: 3,917,521 (GRCm39) E158G possibly damaging Het
Loxl1 A G 9: 58,220,037 (GRCm39) W45R probably damaging Het
Lratd1 T C 12: 14,200,190 (GRCm39) N179S probably benign Het
Lrfn1 G T 7: 28,166,255 (GRCm39) V550F probably damaging Het
Lrp1 T C 10: 127,409,368 (GRCm39) K1584E probably benign Het
Lrp4 C G 2: 91,338,914 (GRCm39) P1782A possibly damaging Het
Map3k1 A G 13: 111,885,478 (GRCm39) S1480P probably damaging Het
Mark4 G T 7: 19,160,015 (GRCm39) N748K probably benign Het
Mrpl38 G A 11: 116,025,900 (GRCm39) T142M probably damaging Het
Mrpl41 T C 2: 24,864,481 (GRCm39) T64A probably benign Het
Mrps2 G A 2: 28,359,764 (GRCm39) R207K possibly damaging Het
Myo5a A T 9: 75,099,726 (GRCm39) E96D Het
Nbas A T 12: 13,633,417 (GRCm39) E2274V probably damaging Het
Or4x13 T C 2: 90,231,338 (GRCm39) F111S probably damaging Het
Or51a8 T C 7: 102,549,652 (GRCm39) I26T probably benign Het
Or51ac3 T C 7: 103,213,850 (GRCm39) D212G probably damaging Het
Or5m10b T C 2: 85,699,278 (GRCm39) L114P possibly damaging Het
Or5m10b T A 2: 85,699,819 (GRCm39) N294K probably damaging Het
Or6c35 T A 10: 129,169,368 (GRCm39) I206N possibly damaging Het
Pcdhga12 T A 18: 37,900,288 (GRCm39) D373E probably damaging Het
Pgd A C 4: 149,235,596 (GRCm39) F395V probably damaging Het
Pi16 A G 17: 29,538,363 (GRCm39) M59V possibly damaging Het
Pik3r5 A T 11: 68,381,720 (GRCm39) T255S probably benign Het
Plch2 A T 4: 155,068,516 (GRCm39) V1370E probably benign Het
Plec A G 15: 76,067,153 (GRCm39) I1309T unknown Het
Ppp2r3d A T 9: 124,440,831 (GRCm38) S22R Het
Pramel26 A G 4: 143,542,609 (GRCm39) C4R probably damaging Het
Ptk2b C A 14: 66,413,154 (GRCm39) E342* probably null Het
Ptpn23 T C 9: 110,215,226 (GRCm39) probably null Het
Rfx8 A C 1: 39,722,850 (GRCm39) S256A probably damaging Het
Rnf115 C T 3: 96,665,337 (GRCm39) T69I probably damaging Het
Rnf213 A G 11: 119,370,457 (GRCm39) Y4753C Het
S100a10 A C 3: 93,471,590 (GRCm39) D58A possibly damaging Het
Serpina12 T C 12: 104,004,317 (GRCm39) K105R probably benign Het
Slc20a2 G A 8: 23,028,900 (GRCm39) G124S probably damaging Het
Stab2 ACC AC 10: 86,692,561 (GRCm39) probably null Het
Stard9 C A 2: 120,526,635 (GRCm39) T964N probably benign Het
Stxbp5 T A 10: 9,774,938 (GRCm39) I72F probably damaging Het
Sumf2 T A 5: 129,891,482 (GRCm39) M282K possibly damaging Het
Tle7 T C 8: 110,837,580 (GRCm39) F375L probably damaging Het
Tmem135 G C 7: 88,797,186 (GRCm39) L357V probably benign Het
Tmem185b G T 1: 119,454,613 (GRCm39) V125L probably benign Het
Tmtc1 A G 6: 148,144,714 (GRCm39) M887T probably damaging Het
Tnfaip8 C T 18: 50,223,512 (GRCm39) Q83* probably null Het
Tnks A G 8: 35,306,089 (GRCm39) V1162A probably damaging Het
Tomm70a T A 16: 56,961,072 (GRCm39) Y342N possibly damaging Het
Tpo T A 12: 30,125,875 (GRCm39) D828V probably damaging Het
Ugt8a A T 3: 125,708,338 (GRCm39) N257K probably damaging Het
Unc13d AATGCCTCCCATGCC AATGCCTCCCATGCCTCCCATGCC 11: 115,958,998 (GRCm39) probably benign Het
Vim T A 2: 13,579,703 (GRCm39) M154K probably damaging Het
Virma G T 4: 11,486,045 (GRCm39) M1I probably null Het
Zfp715 A T 7: 42,950,653 (GRCm39) M100K probably benign Het
Zfp748 A T 13: 67,690,647 (GRCm39) C204* probably null Het
Zmynd8 A T 2: 165,680,772 (GRCm39) D236E 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
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
X0022:Heatr5b UTSW 17 79,067,974 (GRCm39) missense probably benign 0.38
Predicted Primers PCR Primer
(F):5'- GCGCTGCCTAGACAGATATG -3'
(R):5'- TTCCCTAGCTTAGTGGTTGC -3'

Sequencing Primer
(F):5'- CTGCCTAGACAGATATGAAGCATGC -3'
(R):5'- AACCATCTGTAACTCCAGTTCTAGGG -3'
Posted On 2022-10-06