Incidental Mutation 'R7138:Heatr5b'
ID 553233
Institutional Source Beutler Lab
Gene Symbol Heatr5b
Ensembl Gene ENSMUSG00000039414
Gene Name HEAT repeat containing 5B
Synonyms A230048G03Rik, D330050P16Rik, 2010013B10Rik
MMRRC Submission 045249-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.350) question?
Stock # R7138 (G1)
Quality Score 225.009
Status Not validated
Chromosome 17
Chromosomal Location 79060327-79142793 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 79135417 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 238 (V238A)
Ref Sequence ENSEMBL: ENSMUSP00000094882 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000097281]
AlphaFold Q8C547
Predicted Effect probably damaging
Transcript: ENSMUST00000097281
AA Change: V238A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000094882
Gene: ENSMUSG00000039414
AA Change: V238A

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 T A 3: 121,899,113 (GRCm39) C698* probably null Het
Acacb G A 5: 114,345,387 (GRCm39) V947M probably benign Het
Acadsb T G 7: 131,042,968 (GRCm39) L343R probably damaging Het
Adgrf2 C T 17: 43,021,874 (GRCm39) E317K probably damaging Het
Agap2 A G 10: 126,923,154 (GRCm39) T663A unknown Het
Akap8 A T 17: 32,535,515 (GRCm39) F166L possibly damaging Het
Ankrd17 A T 5: 90,390,836 (GRCm39) M2278K probably benign Het
Avl9 T C 6: 56,705,242 (GRCm39) S148P probably damaging Het
Brf1 T C 12: 112,933,835 (GRCm39) E266G probably damaging Het
Cabin1 T C 10: 75,581,187 (GRCm39) K380E probably damaging Het
Catsper2 T C 2: 121,227,544 (GRCm39) D542G possibly damaging Het
Cbln4 C A 2: 171,884,095 (GRCm39) D42Y probably damaging Het
Ccn6 T A 10: 39,034,473 (GRCm39) Q43L possibly damaging Het
Cd5 C T 19: 10,697,668 (GRCm39) R437Q probably damaging Het
Ceacam18 G C 7: 43,288,706 (GRCm39) E152D possibly damaging Het
Chd8 A G 14: 52,451,955 (GRCm39) S1347P possibly damaging Het
Chodl T G 16: 78,738,335 (GRCm39) I101R probably damaging Het
Clk4 T G 11: 51,168,759 (GRCm39) F377L probably damaging Het
Cntnap3 C T 13: 64,929,539 (GRCm39) probably null Het
Dab2 A G 15: 6,458,780 (GRCm39) S231G probably benign Het
Disp2 T A 2: 118,617,361 (GRCm39) H118Q probably benign Het
Dnah10 T C 5: 124,900,009 (GRCm39) F3869S probably damaging Het
Edil3 C T 13: 89,279,847 (GRCm39) T175I probably damaging Het
Eif1ad18 T G 12: 88,050,648 (GRCm39) I61R probably damaging Het
Fap A G 2: 62,372,522 (GRCm39) S319P probably benign Het
Frmpd2 T A 14: 33,293,761 (GRCm39) V1309E probably benign Het
Galntl5 T A 5: 25,394,842 (GRCm39) S70T probably benign Het
Gm5622 G T 14: 51,893,339 (GRCm39) E89* probably null Het
Gna15 G A 10: 81,343,881 (GRCm39) T260M probably damaging Het
Gucy2c A G 6: 136,705,342 (GRCm39) I531T probably damaging Het
Htr2a A G 14: 74,943,182 (GRCm39) Y254C probably damaging Het
Inpp5b A G 4: 124,679,065 (GRCm39) R491G probably damaging Het
Kcnt2 C T 1: 140,523,778 (GRCm39) L1093F possibly damaging Het
Kcp C A 6: 29,491,861 (GRCm39) E922* probably null Het
Lrp2 G A 2: 69,296,089 (GRCm39) A3340V possibly damaging Het
Lrrn1 T G 6: 107,545,336 (GRCm39) V378G probably damaging Het
Naip5 T A 13: 100,356,338 (GRCm39) E1092D probably benign Het
Net1 G A 13: 3,938,510 (GRCm39) R126C probably damaging Het
Nipsnap3a T C 4: 52,993,978 (GRCm39) C20R probably benign Het
Nxpe2 C T 9: 48,232,006 (GRCm39) C317Y probably damaging Het
Or10v9 T A 19: 11,832,652 (GRCm39) I222F probably damaging Het
Or52h1 T C 7: 103,829,504 (GRCm39) Y37C probably damaging Het
Or8b8 T C 9: 37,809,360 (GRCm39) I220T probably damaging Het
Or8g54 T G 9: 39,707,086 (GRCm39) Y138* probably null Het
Orm1 T A 4: 63,262,949 (GRCm39) W39R probably damaging Het
Pds5b A T 5: 150,724,142 (GRCm39) K1240* probably null Het
Pdss1 T A 2: 22,802,681 (GRCm39) H173Q probably damaging Het
Pebp1 A G 5: 117,423,882 (GRCm39) W84R probably damaging Het
Pla2g4e C T 2: 120,001,759 (GRCm39) C630Y probably damaging Het
Plaat3 T A 19: 7,556,550 (GRCm39) V117E probably damaging Het
Plekho2 G T 9: 65,463,635 (GRCm39) Q405K probably benign Het
Plppr2 T A 9: 21,855,708 (GRCm39) V227E probably damaging Het
Pphln1-ps1 T A 16: 13,495,589 (GRCm39) D229E probably benign Het
Rapgef4 T C 2: 72,028,707 (GRCm39) S393P probably damaging Het
Rapgefl1 A G 11: 98,737,900 (GRCm39) probably null Het
Ripk3 C A 14: 56,025,803 (GRCm39) R19L probably benign Het
Rnase10 G T 14: 51,247,167 (GRCm39) V182F probably damaging Het
Rsf1 T A 7: 97,319,002 (GRCm39) S917R Het
Sephs2 T C 7: 126,872,187 (GRCm39) N302S possibly damaging Het
Slc13a2 C T 11: 78,289,950 (GRCm39) V455M possibly damaging Het
Slc30a2 A T 4: 134,071,429 (GRCm39) D54V probably benign Het
Slco6c1 T C 1: 97,047,706 (GRCm39) E199G possibly damaging Het
Snx27 A T 3: 94,436,247 (GRCm39) M256K probably benign Het
Spag4 T A 2: 155,908,519 (GRCm39) S150T probably benign Het
Spon1 T A 7: 113,635,945 (GRCm39) C720S probably damaging Het
Tbc1d22a T C 15: 86,123,356 (GRCm39) S166P probably benign Het
Tbc1d9 T C 8: 83,937,113 (GRCm39) I65T probably damaging Het
Tmem176a T A 6: 48,820,953 (GRCm39) V141D probably damaging Het
Tmem268 G A 4: 63,480,687 (GRCm39) probably benign Het
Tonsl A G 15: 76,518,976 (GRCm39) V519A probably benign Het
Ttn G A 2: 76,612,376 (GRCm39) P17204S possibly damaging Het
Wrap53 T A 11: 69,454,694 (GRCm39) D225V probably benign Het
Zfhx4 G A 3: 5,477,107 (GRCm39) A3241T possibly damaging Het
Zfp1002 T C 2: 150,097,372 (GRCm39) H47R probably damaging Het
Znfx1 T C 2: 166,898,697 (GRCm39) R76G probably benign 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
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'- GCTAACAATTTAAGTGCCTTTAAAGT -3'
(R):5'- GCTGACCCTGTTTCTTGTGTTAT -3'

Sequencing Primer
(F):5'- GTGGCCTCCATGCGTAATAAC -3'
(R):5'- CAGTACCTTGCACAGTGTAGGAC -3'
Posted On 2019-05-15