Incidental Mutation 'R1835:Heatr5b'
ID 205227
Institutional Source Beutler Lab
Gene Symbol Heatr5b
Ensembl Gene ENSMUSG00000039414
Gene Name HEAT repeat containing 5B
Synonyms 2010013B10Rik, A230048G03Rik, D330050P16Rik
MMRRC Submission 039862-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.633) question?
Stock # R1835 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 78752906-78835381 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 78773563 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 1420 (L1420Q)
Ref Sequence ENSEMBL: ENSMUSP00000094882 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000097281]
AlphaFold Q8C547
Predicted Effect probably damaging
Transcript: ENSMUST00000097281
AA Change: L1420Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000094882
Gene: ENSMUSG00000039414
AA Change: L1420Q

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
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 94.9%
  • 20x: 91.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 97 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acss2 T A 2: 155,558,630 (GRCm38) Y530N probably damaging Het
Adam4 T C 12: 81,419,559 (GRCm38) I763V probably benign Het
Aipl1 T G 11: 72,030,499 (GRCm38) K190T possibly damaging Het
Alms1 T A 6: 85,678,503 (GRCm38) S3344T possibly damaging Het
Alpi A G 1: 87,099,414 (GRCm38) V381A possibly damaging Het
Ankfn1 A T 11: 89,447,618 (GRCm38) S365R probably benign Het
Aox2 G A 1: 58,308,991 (GRCm38) A623T probably benign Het
Apc T A 18: 34,317,077 (GRCm38) L2308Q probably damaging Het
Atp9b C T 18: 80,778,883 (GRCm38) V501I probably benign Het
Baz2b T C 2: 59,901,819 (GRCm38) E1994G probably benign Het
Bltp2 G T 11: 78,287,750 (GRCm38) V1993F probably damaging Het
Cacna1a T C 8: 84,581,357 (GRCm38) probably null Het
Cacna1h C A 17: 25,392,076 (GRCm38) V583L probably benign Het
Cd55 T C 1: 130,447,609 (GRCm38) probably benign Het
Cep192 T A 18: 67,804,424 (GRCm38) S75T possibly damaging Het
Cfap54 T A 10: 92,962,375 (GRCm38) D1674V probably benign Het
Churc1 T C 12: 76,773,297 (GRCm38) F27L possibly damaging Het
Coro1c A G 5: 113,848,543 (GRCm38) I280T probably benign Het
Creb1 C T 1: 64,550,950 (GRCm38) Q32* probably null Het
Cyp2b9 A G 7: 26,200,783 (GRCm38) T339A probably benign Het
Dctn3 T C 4: 41,720,813 (GRCm38) R51G probably damaging Het
Ddb1 T C 19: 10,626,593 (GRCm38) V888A probably damaging Het
Disp1 A G 1: 183,089,000 (GRCm38) Y619H probably damaging Het
Dnajc9 T C 14: 20,388,334 (GRCm38) D96G possibly damaging Het
Eepd1 A G 9: 25,482,868 (GRCm38) T143A possibly damaging Het
Eps8 T A 6: 137,522,279 (GRCm38) K204* probably null Het
Ercc5 T A 1: 44,180,875 (GRCm38) S1102R probably benign Het
Ergic2 T A 6: 148,189,581 (GRCm38) Y211F possibly damaging Het
Fam135b G T 15: 71,490,711 (GRCm38) L274M probably damaging Het
Fat3 G A 9: 15,998,088 (GRCm38) T2206I probably damaging Het
Fat4 A G 3: 38,983,571 (GRCm38) I3791V probably benign Het
Gemin4 A G 11: 76,213,296 (GRCm38) M213T possibly damaging Het
Gnai3 T C 3: 108,118,407 (GRCm38) M119V probably benign Het
Herc2 G T 7: 56,206,765 (GRCm38) G3918* probably null Het
Ints9 A G 14: 65,032,256 (GRCm38) Y465C probably damaging Het
Ist1 A G 8: 109,678,883 (GRCm38) V175A probably damaging Het
Kcnj12 T C 11: 61,069,557 (GRCm38) L227P possibly damaging Het
Kcnq5 T C 1: 21,466,387 (GRCm38) S416G probably benign Het
Kdm3a T A 6: 71,613,956 (GRCm38) T295S probably benign Het
Kif1c T A 11: 70,708,971 (GRCm38) M479K probably damaging Het
Kif20b T C 19: 34,956,038 (GRCm38) L83P probably damaging Het
Kndc1 A G 7: 139,927,711 (GRCm38) E1194G probably damaging Het
Llgl1 A G 11: 60,704,730 (GRCm38) M81V probably benign Het
Map4k5 C A 12: 69,824,662 (GRCm38) M495I probably damaging Het
Mest C T 6: 30,742,791 (GRCm38) R146C probably benign Het
Mettl24 T A 10: 40,737,816 (GRCm38) probably null Het
Mical1 T C 10: 41,483,535 (GRCm38) S586P probably benign Het
Mrgpra3 G T 7: 47,589,946 (GRCm38) Y77* probably null Het
Mss51 A T 14: 20,483,178 (GRCm38) C408* probably null Het
Myh6 T C 14: 54,957,401 (GRCm38) T666A probably benign Het
Myo10 T C 15: 25,805,587 (GRCm38) C1685R possibly damaging Het
Naip5 A T 13: 100,223,218 (GRCm38) Y503* probably null Het
Neil1 A C 9: 57,146,604 (GRCm38) F144C probably damaging Het
Nipbl T A 15: 8,343,517 (GRCm38) I1082F possibly damaging Het
Nkiras1 T C 14: 18,276,732 (GRCm38) V7A probably damaging Het
Nt5el C A 13: 105,082,194 (GRCm38) A12E unknown Het
Ntng2 G A 2: 29,197,057 (GRCm38) Q384* probably null Het
Ocrl T A X: 47,962,116 (GRCm38) I74N probably damaging Het
Or10j27 A G 1: 173,130,815 (GRCm38) V134A probably benign Het
Or13a22 A G 7: 140,492,709 (GRCm38) S24G probably benign Het
Or14j8 C T 17: 37,952,385 (GRCm38) G213E possibly damaging Het
Or1e22 A C 11: 73,486,374 (GRCm38) V150G probably benign Het
Or2j3 A T 17: 38,305,312 (GRCm38) S50T probably benign Het
Or2y1 A T 11: 49,494,670 (GRCm38) I46F probably damaging Het
Patj A G 4: 98,491,590 (GRCm38) D151G probably benign Het
Plpbp T C 8: 27,049,231 (GRCm38) V126A probably damaging Het
Pold2 A G 11: 5,873,454 (GRCm38) L325P possibly damaging Het
Ppp1r12c A C 7: 4,483,651 (GRCm38) S480A probably damaging Het
Pum1 T C 4: 130,701,048 (GRCm38) S124P possibly damaging Het
Pwp2 C G 10: 78,179,091 (GRCm38) G353A probably damaging Het
Reln C A 5: 21,979,002 (GRCm38) Q1666H probably damaging Het
Rnf19a T C 15: 36,265,925 (GRCm38) I9V probably benign Het
Ryr2 T C 13: 11,769,878 (GRCm38) H1063R probably benign Het
Samd14 C G 11: 95,023,600 (GRCm38) D361E probably damaging Het
Samd15 A T 12: 87,201,843 (GRCm38) N365I probably damaging Het
Sec16b A G 1: 157,531,312 (GRCm38) H105R probably benign Het
Sez6 T C 11: 77,953,503 (GRCm38) S51P probably benign Het
Sh3bp1 T A 15: 78,905,150 (GRCm38) L236Q probably damaging Het
Sspo C T 6: 48,457,340 (GRCm38) T991I probably damaging Het
Suco A T 1: 161,859,500 (GRCm38) L97* probably null Het
Tab1 C A 15: 80,148,296 (GRCm38) R35S probably benign Het
Tet3 C A 6: 83,404,163 (GRCm38) S341I possibly damaging Het
Tlr1 A T 5: 64,925,700 (GRCm38) D511E probably benign Het
Tmem132b A C 5: 125,785,899 (GRCm38) D656A probably damaging Het
Tmtc4 T A 14: 122,941,988 (GRCm38) probably null Het
Trmo T C 4: 46,380,158 (GRCm38) T404A probably damaging Het
Trpm1 A G 7: 64,230,268 (GRCm38) K790E probably damaging Het
Ulk4 C A 9: 121,168,184 (GRCm38) R774M probably null Het
Ush2a C T 1: 188,451,818 (GRCm38) L1440F probably benign Het
Usp16 A G 16: 87,480,907 (GRCm38) K682E probably damaging Het
Virma T C 4: 11,540,511 (GRCm38) S1471P probably benign Het
Vmn1r177 A T 7: 23,865,686 (GRCm38) I255N probably damaging Het
Vmn2r61 A T 7: 42,266,652 (GRCm38) R230* probably null Het
Vps13c T A 9: 67,993,013 (GRCm38) F3671L probably benign Het
Washc5 T C 15: 59,359,340 (GRCm38) N358S possibly damaging Het
Wdr72 A G 9: 74,151,617 (GRCm38) K331E probably damaging Het
Zfp986 A T 4: 145,899,235 (GRCm38) K155I probably benign Het
Other mutations in Heatr5b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00338:Heatr5b APN 17 78,803,434 (GRCm38) missense probably damaging 1.00
IGL00418:Heatr5b APN 17 78,753,141 (GRCm38) missense probably damaging 1.00
IGL00786:Heatr5b APN 17 78,824,634 (GRCm38) missense possibly damaging 0.95
IGL00840:Heatr5b APN 17 78,765,437 (GRCm38) missense probably damaging 1.00
IGL01362:Heatr5b APN 17 78,816,338 (GRCm38) splice site probably benign
IGL01419:Heatr5b APN 17 78,796,510 (GRCm38) missense probably benign 0.19
IGL01447:Heatr5b APN 17 78,829,597 (GRCm38) missense probably benign 0.00
IGL01591:Heatr5b APN 17 78,808,472 (GRCm38) missense probably benign 0.01
IGL01743:Heatr5b APN 17 78,824,640 (GRCm38) nonsense probably null
IGL01860:Heatr5b APN 17 78,808,480 (GRCm38) missense probably damaging 0.98
IGL01862:Heatr5b APN 17 78,796,485 (GRCm38) missense possibly damaging 0.96
IGL01984:Heatr5b APN 17 78,796,497 (GRCm38) missense possibly damaging 0.63
IGL02045:Heatr5b APN 17 78,808,426 (GRCm38) missense probably damaging 1.00
IGL02097:Heatr5b APN 17 78,817,514 (GRCm38) missense probably damaging 1.00
IGL02168:Heatr5b APN 17 78,831,591 (GRCm38) unclassified probably benign
IGL02399:Heatr5b APN 17 78,827,967 (GRCm38) missense probably damaging 0.99
IGL02540:Heatr5b APN 17 78,773,572 (GRCm38) missense probably damaging 1.00
IGL02719:Heatr5b APN 17 78,815,540 (GRCm38) missense probably damaging 1.00
IGL02824:Heatr5b APN 17 78,773,680 (GRCm38) missense probably damaging 1.00
IGL02965:Heatr5b APN 17 78,753,073 (GRCm38) missense probably benign 0.37
IGL03032:Heatr5b APN 17 78,760,499 (GRCm38) missense probably benign 0.45
IGL03243:Heatr5b APN 17 78,763,080 (GRCm38) splice site probably benign
IGL03259:Heatr5b APN 17 78,791,556 (GRCm38) missense probably damaging 1.00
IGL03349:Heatr5b APN 17 78,755,320 (GRCm38) missense probably benign 0.01
R5470_heatr5b_501 UTSW 17 78,821,579 (GRCm38) splice site probably null
R0124:Heatr5b UTSW 17 78,826,217 (GRCm38) splice site probably benign
R0285:Heatr5b UTSW 17 78,808,453 (GRCm38) missense probably benign 0.05
R0335:Heatr5b UTSW 17 78,827,946 (GRCm38) missense probably benign 0.15
R0412:Heatr5b UTSW 17 78,820,854 (GRCm38) missense probably benign 0.04
R0601:Heatr5b UTSW 17 78,768,545 (GRCm38) missense probably benign
R0725:Heatr5b UTSW 17 78,796,396 (GRCm38) missense probably benign 0.03
R1178:Heatr5b UTSW 17 78,813,269 (GRCm38) missense probably damaging 1.00
R1444:Heatr5b UTSW 17 78,755,427 (GRCm38) splice site probably benign
R1444:Heatr5b UTSW 17 78,753,193 (GRCm38) missense probably benign 0.17
R1453:Heatr5b UTSW 17 78,817,563 (GRCm38) missense probably damaging 1.00
R1469:Heatr5b UTSW 17 78,808,384 (GRCm38) missense probably damaging 1.00
R1469:Heatr5b UTSW 17 78,808,384 (GRCm38) missense probably damaging 1.00
R1506:Heatr5b UTSW 17 78,753,147 (GRCm38) missense probably damaging 1.00
R1819:Heatr5b UTSW 17 78,791,511 (GRCm38) missense probably damaging 0.98
R1837:Heatr5b UTSW 17 78,820,751 (GRCm38) missense possibly damaging 0.54
R1934:Heatr5b UTSW 17 78,795,918 (GRCm38) missense possibly damaging 0.93
R2014:Heatr5b UTSW 17 78,814,184 (GRCm38) missense probably damaging 1.00
R2037:Heatr5b UTSW 17 78,829,505 (GRCm38) nonsense probably null
R2154:Heatr5b UTSW 17 78,831,444 (GRCm38) missense probably benign 0.00
R2190:Heatr5b UTSW 17 78,801,756 (GRCm38) missense probably damaging 1.00
R2191:Heatr5b UTSW 17 78,773,677 (GRCm38) missense probably damaging 1.00
R2413:Heatr5b UTSW 17 78,756,861 (GRCm38) critical splice donor site probably null
R3424:Heatr5b UTSW 17 78,768,404 (GRCm38) missense possibly damaging 0.58
R3607:Heatr5b UTSW 17 78,834,217 (GRCm38) missense probably damaging 1.00
R3759:Heatr5b UTSW 17 78,824,540 (GRCm38) missense possibly damaging 0.94
R3761:Heatr5b UTSW 17 78,829,642 (GRCm38) missense probably damaging 1.00
R4127:Heatr5b UTSW 17 78,753,174 (GRCm38) missense possibly damaging 0.48
R4242:Heatr5b UTSW 17 78,756,922 (GRCm38) missense probably benign 0.00
R4345:Heatr5b UTSW 17 78,760,511 (GRCm38) missense possibly damaging 0.94
R4534:Heatr5b UTSW 17 78,810,596 (GRCm38) missense possibly damaging 0.91
R4623:Heatr5b UTSW 17 78,795,119 (GRCm38) missense possibly damaging 0.52
R4654:Heatr5b UTSW 17 78,820,701 (GRCm38) missense possibly damaging 0.95
R4939:Heatr5b UTSW 17 78,762,260 (GRCm38) missense probably benign 0.18
R4960:Heatr5b UTSW 17 78,831,584 (GRCm38) missense probably benign 0.01
R5037:Heatr5b UTSW 17 78,824,510 (GRCm38) missense probably benign 0.00
R5051:Heatr5b UTSW 17 78,795,274 (GRCm38) missense probably damaging 1.00
R5153:Heatr5b UTSW 17 78,795,107 (GRCm38) nonsense probably null
R5328:Heatr5b UTSW 17 78,826,362 (GRCm38) missense possibly damaging 0.94
R5346:Heatr5b UTSW 17 78,827,986 (GRCm38) missense probably benign 0.44
R5426:Heatr5b UTSW 17 78,773,713 (GRCm38) missense probably damaging 1.00
R5470:Heatr5b UTSW 17 78,821,579 (GRCm38) splice site probably null
R5472:Heatr5b UTSW 17 78,801,660 (GRCm38) missense probably damaging 1.00
R5553:Heatr5b UTSW 17 78,753,351 (GRCm38) splice site probably null
R5706:Heatr5b UTSW 17 78,766,875 (GRCm38) splice site probably null
R5804:Heatr5b UTSW 17 78,831,522 (GRCm38) missense probably damaging 0.97
R5978:Heatr5b UTSW 17 78,806,036 (GRCm38) missense probably damaging 0.99
R6122:Heatr5b UTSW 17 78,813,173 (GRCm38) missense possibly damaging 0.96
R6153:Heatr5b UTSW 17 78,831,441 (GRCm38) missense possibly damaging 0.56
R6220:Heatr5b UTSW 17 78,773,677 (GRCm38) missense probably damaging 1.00
R6221:Heatr5b UTSW 17 78,766,954 (GRCm38) missense probably benign 0.05
R6255:Heatr5b UTSW 17 78,803,434 (GRCm38) missense probably damaging 1.00
R6291:Heatr5b UTSW 17 78,762,097 (GRCm38) missense probably benign 0.08
R6455:Heatr5b UTSW 17 78,753,073 (GRCm38) missense probably benign 0.37
R6524:Heatr5b UTSW 17 78,814,106 (GRCm38) missense possibly damaging 0.94
R6575:Heatr5b UTSW 17 78,762,989 (GRCm38) missense probably damaging 1.00
R6899:Heatr5b UTSW 17 78,803,509 (GRCm38) missense probably benign 0.03
R7084:Heatr5b UTSW 17 78,810,563 (GRCm38) missense possibly damaging 0.68
R7138:Heatr5b UTSW 17 78,827,988 (GRCm38) missense probably damaging 1.00
R7148:Heatr5b UTSW 17 78,831,434 (GRCm38) missense probably damaging 0.99
R7382:Heatr5b UTSW 17 78,803,507 (GRCm38) missense possibly damaging 0.64
R7420:Heatr5b UTSW 17 78,808,480 (GRCm38) missense probably damaging 1.00
R7436:Heatr5b UTSW 17 78,768,533 (GRCm38) missense probably benign
R7519:Heatr5b UTSW 17 78,755,217 (GRCm38) missense probably benign
R7606:Heatr5b UTSW 17 78,763,026 (GRCm38) missense probably benign
R7673:Heatr5b UTSW 17 78,795,983 (GRCm38) missense probably damaging 0.97
R7782:Heatr5b UTSW 17 78,795,941 (GRCm38) missense probably damaging 0.99
R7790:Heatr5b UTSW 17 78,818,823 (GRCm38) missense probably damaging 0.99
R7922:Heatr5b UTSW 17 78,760,559 (GRCm38) missense probably benign 0.01
R8184:Heatr5b UTSW 17 78,814,233 (GRCm38) missense probably benign 0.03
R8222:Heatr5b UTSW 17 78,801,701 (GRCm38) missense possibly damaging 0.95
R8276:Heatr5b UTSW 17 78,791,539 (GRCm38) nonsense probably null
R8324:Heatr5b UTSW 17 78,755,364 (GRCm38) missense possibly damaging 0.85
R8430:Heatr5b UTSW 17 78,829,624 (GRCm38) missense probably damaging 0.97
R8432:Heatr5b UTSW 17 78,803,501 (GRCm38) missense probably damaging 0.99
R8672:Heatr5b UTSW 17 78,762,203 (GRCm38) missense probably damaging 1.00
R8781:Heatr5b UTSW 17 78,795,309 (GRCm38) missense probably benign 0.19
R8794:Heatr5b UTSW 17 78,815,586 (GRCm38) missense probably benign 0.00
R8808:Heatr5b UTSW 17 78,765,405 (GRCm38) missense possibly damaging 0.92
R8850:Heatr5b UTSW 17 78,801,759 (GRCm38) missense probably benign 0.02
R8893:Heatr5b UTSW 17 78,761,995 (GRCm38) splice site probably benign
R9010:Heatr5b UTSW 17 78,773,710 (GRCm38) missense probably damaging 1.00
R9041:Heatr5b UTSW 17 78,796,432 (GRCm38) missense probably benign 0.12
R9150:Heatr5b UTSW 17 78,796,019 (GRCm38) missense probably benign
R9253:Heatr5b UTSW 17 78,827,994 (GRCm38) missense probably benign 0.13
R9318:Heatr5b UTSW 17 78,765,402 (GRCm38) missense probably benign 0.07
R9448:Heatr5b UTSW 17 78,760,586 (GRCm38) missense probably benign 0.26
R9489:Heatr5b UTSW 17 78,753,250 (GRCm38) nonsense probably null
R9649:Heatr5b UTSW 17 78,834,095 (GRCm38) critical splice donor site probably null
X0022:Heatr5b UTSW 17 78,760,545 (GRCm38) missense probably benign 0.38
Predicted Primers PCR Primer
(F):5'- CCCAGCAGTGAGTAAATGTGG -3'
(R):5'- ATATGAGGACAGCCATCCCG -3'

Sequencing Primer
(F):5'- CAGCAGTGAGTAAATGTGGACACC -3'
(R):5'- CAGTTGCTCTGTACACAGTAAC -3'
Posted On 2014-06-23