Incidental Mutation 'R1914:Heatr5a'
ID 214708
Institutional Source Beutler Lab
Gene Symbol Heatr5a
Ensembl Gene ENSMUSG00000035181
Gene Name HEAT repeat containing 5A
Synonyms D930036F22Rik
MMRRC Submission 039932-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.249) question?
Stock # R1914 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 51922654-52018104 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 51952250 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Glutamic Acid at position 1130 (A1130E)
Ref Sequence ENSEMBL: ENSMUSP00000043115 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040583]
AlphaFold Q5PRF0
Predicted Effect probably damaging
Transcript: ENSMUST00000040583
AA Change: A1130E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000043115
Gene: ENSMUSG00000035181
AA Change: A1130E

DomainStartEndE-ValueType
low complexity region 56 67 N/A INTRINSIC
SCOP:d1qbkb_ 112 658 6e-13 SMART
low complexity region 1063 1078 N/A INTRINSIC
low complexity region 1081 1095 N/A INTRINSIC
low complexity region 1110 1120 N/A INTRINSIC
low complexity region 1122 1135 N/A INTRINSIC
low complexity region 1496 1507 N/A INTRINSIC
low complexity region 1722 1735 N/A INTRINSIC
low complexity region 1925 1936 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000217966
AA Change: A233E
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220369
Meta Mutation Damage Score 0.1416 question?
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 96.9%
  • 10x: 95.1%
  • 20x: 91.6%
Validation Efficiency 99% (90/91)
Allele List at MGI
Other mutations in this stock
Total: 87 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833420G17Rik T A 13: 119,622,386 (GRCm39) V618E possibly damaging Het
Abca6 T C 11: 110,103,036 (GRCm39) R852G probably benign Het
Akap12 G A 10: 4,306,685 (GRCm39) R1165H probably benign Het
Asxl1 T C 2: 153,243,826 (GRCm39) S1459P probably damaging Het
Bahcc1 C T 11: 120,176,225 (GRCm39) R1957C probably damaging Het
Bcar1 A G 8: 112,442,030 (GRCm39) V270A probably damaging Het
Camsap3 C T 8: 3,654,708 (GRCm39) R782C probably damaging Het
Capn15 C A 17: 26,183,837 (GRCm39) A215S probably benign Het
Casz1 T C 4: 149,017,415 (GRCm39) F235L probably damaging Het
Ccdc57 A T 11: 120,794,134 (GRCm39) probably benign Het
Cdh23 A G 10: 60,159,349 (GRCm39) V2142A probably damaging Het
Cdx1 A G 18: 61,152,970 (GRCm39) V212A probably benign Het
Cep104 T C 4: 154,074,296 (GRCm39) L516P possibly damaging Het
Cep95 C T 11: 106,705,464 (GRCm39) T483I probably damaging Het
Cfap100 T C 6: 90,389,329 (GRCm39) probably benign Het
Chia1 T A 3: 106,035,875 (GRCm39) N238K probably benign Het
Cntrl T C 2: 35,052,873 (GRCm39) M1126T probably benign Het
Col28a1 A G 6: 8,176,333 (GRCm39) F8S probably benign Het
Cpeb3 C T 19: 37,031,665 (GRCm39) R579Q probably damaging Het
Dbh A G 2: 27,058,234 (GRCm39) D134G probably damaging Het
Diaph3 A C 14: 86,893,921 (GRCm39) N29K probably damaging Het
Dnajc2 A G 5: 21,986,317 (GRCm39) probably null Het
Ephb1 C T 9: 101,806,577 (GRCm39) C819Y probably damaging Het
Eps8l2 G A 7: 140,941,765 (GRCm39) V650M probably damaging Het
Erlin1 T C 19: 44,047,504 (GRCm39) Y139C probably damaging Het
Fezf2 A T 14: 12,343,988 (GRCm38) V301E probably damaging Het
Fnbp4 T C 2: 90,609,537 (GRCm39) probably benign Het
Gal3st4 T A 5: 138,263,672 (GRCm39) K442N probably benign Het
Gas6 T C 8: 13,527,152 (GRCm39) T199A probably benign Het
Gm10644 G A 8: 84,660,479 (GRCm39) probably benign Het
Gpr88 G T 3: 116,046,073 (GRCm39) S79R possibly damaging Het
Grm4 A T 17: 27,653,686 (GRCm39) C755S probably damaging Het
Hdgfl2 A G 17: 56,403,978 (GRCm39) D278G probably damaging Het
Heatr9 T G 11: 83,409,035 (GRCm39) I171L possibly damaging Het
Hectd4 A G 5: 121,460,357 (GRCm39) T2209A probably benign Het
Hsh2d A G 8: 72,947,365 (GRCm39) T21A probably damaging Het
Ing1 T A 8: 11,611,577 (GRCm39) V63E probably damaging Het
Irf4 A T 13: 30,945,445 (GRCm39) Q397L probably benign Het
Itgae T A 11: 73,009,469 (GRCm39) probably benign Het
Jrkl A T 9: 13,245,609 (GRCm39) D17E possibly damaging Het
Kcnh6 T A 11: 105,908,270 (GRCm39) Y295* probably null Het
Klf5 T C 14: 99,539,357 (GRCm39) S177P probably benign Het
Lats1 T A 10: 7,586,221 (GRCm39) probably benign Het
Lilrb4a A G 10: 51,368,045 (GRCm39) I53M probably benign Het
Lrrc2 T A 9: 110,810,007 (GRCm39) Y348N probably damaging Het
Man1c1 G C 4: 134,430,749 (GRCm39) P11R probably damaging Het
Med25 A G 7: 44,534,046 (GRCm39) S245P probably benign Het
Mlh3 T C 12: 85,308,442 (GRCm39) Y1115C probably benign Het
Mslnl G A 17: 25,961,908 (GRCm39) V128M probably damaging Het
Myh10 T C 11: 68,681,034 (GRCm39) L1025P probably damaging Het
Myof T A 19: 37,966,141 (GRCm39) N393I probably damaging Het
Naip6 T A 13: 100,435,936 (GRCm39) E862D probably benign Het
Ncald C T 15: 37,397,324 (GRCm39) A119T probably benign Het
Nipbl T C 15: 8,373,114 (GRCm39) E1044G possibly damaging Het
Nyap2 T C 1: 81,169,602 (GRCm39) S120P probably damaging Het
Oas1a A T 5: 121,043,876 (GRCm39) N85K possibly damaging Het
Or8b12i T C 9: 20,082,324 (GRCm39) Y181C probably benign Het
Pappa2 A T 1: 158,578,133 (GRCm39) D1721E probably damaging Het
Pcid2 A T 8: 13,144,141 (GRCm39) probably null Het
Pou2f2 C T 7: 24,799,581 (GRCm39) A92T possibly damaging Het
Ppp1r16a T C 15: 76,577,268 (GRCm39) L212P probably damaging Het
Ptbp3 A T 4: 59,517,635 (GRCm39) L84Q probably damaging Het
Ptgr2 A T 12: 84,349,096 (GRCm39) Q145L probably benign Het
Pudp T C 18: 50,701,278 (GRCm39) N152D probably benign Het
Rabggta A T 14: 55,958,646 (GRCm39) F62L possibly damaging Het
Rasal3 G A 17: 32,615,324 (GRCm39) Q505* probably null Het
Rbm20 T A 19: 53,852,518 (GRCm39) L1166Q probably damaging Het
Rictor T G 15: 6,789,053 (GRCm39) I223R probably damaging Het
Ripor1 A T 8: 106,343,518 (GRCm39) E270D probably damaging Het
Rorc T C 3: 94,298,480 (GRCm39) C322R probably damaging Het
Rpgrip1l T C 8: 91,959,552 (GRCm39) D1116G probably benign Het
Rsph4a A T 10: 33,789,068 (GRCm39) N638Y probably damaging Het
Scn9a A G 2: 66,396,594 (GRCm39) F100L probably damaging Het
Siglece A G 7: 43,307,219 (GRCm39) V256A probably benign Het
Slc23a2 A T 2: 131,898,686 (GRCm39) L617Q probably damaging Het
Snx9 T C 17: 5,978,531 (GRCm39) I567T possibly damaging Het
Sptan1 C G 2: 29,901,048 (GRCm39) Q1425E probably benign Het
Srd5a3 G A 5: 76,295,552 (GRCm39) V81I probably benign Het
Sugp2 T A 8: 70,706,310 (GRCm39) I790K probably damaging Het
Syde2 T G 3: 145,720,071 (GRCm39) Y764* probably null Het
Tbl1xr1 T C 3: 22,245,074 (GRCm39) probably benign Het
Tmem130 A G 5: 144,674,666 (GRCm39) F353S probably damaging Het
Tmem131 T A 1: 36,835,347 (GRCm39) K1591N probably damaging Het
Trim43c T A 9: 88,722,670 (GRCm39) D105E probably benign Het
Urb2 C A 8: 124,756,537 (GRCm39) T748K possibly damaging Het
Vmn2r18 T C 5: 151,499,286 (GRCm39) N393D probably benign Het
Zfp292 G A 4: 34,805,100 (GRCm39) S2648F possibly damaging Het
Other mutations in Heatr5a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00339:Heatr5a APN 12 51,935,684 (GRCm39) missense probably damaging 0.99
IGL01397:Heatr5a APN 12 51,941,152 (GRCm39) missense possibly damaging 0.89
IGL01481:Heatr5a APN 12 52,002,208 (GRCm39) missense probably damaging 1.00
IGL01684:Heatr5a APN 12 52,002,294 (GRCm39) missense probably benign 0.36
IGL01766:Heatr5a APN 12 51,936,447 (GRCm39) missense probably benign 0.15
IGL01799:Heatr5a APN 12 51,944,618 (GRCm39) missense probably benign 0.17
IGL02007:Heatr5a APN 12 51,962,941 (GRCm39) missense probably damaging 1.00
IGL02093:Heatr5a APN 12 51,962,858 (GRCm39) missense possibly damaging 0.68
IGL02205:Heatr5a APN 12 51,924,120 (GRCm39) missense probably damaging 1.00
IGL02450:Heatr5a APN 12 51,992,213 (GRCm39) missense probably benign 0.02
IGL02565:Heatr5a APN 12 51,997,882 (GRCm39) missense possibly damaging 0.54
IGL02707:Heatr5a APN 12 51,968,149 (GRCm39) missense probably benign 0.01
IGL02735:Heatr5a APN 12 51,961,804 (GRCm39) missense probably damaging 0.99
IGL03160:Heatr5a APN 12 51,931,279 (GRCm39) splice site probably benign
F5770:Heatr5a UTSW 12 51,928,061 (GRCm39) splice site probably benign
R0034:Heatr5a UTSW 12 51,971,955 (GRCm39) missense probably damaging 1.00
R0127:Heatr5a UTSW 12 51,972,188 (GRCm39) missense probably benign
R0184:Heatr5a UTSW 12 51,956,752 (GRCm39) missense probably benign 0.00
R0362:Heatr5a UTSW 12 51,935,644 (GRCm39) missense probably damaging 1.00
R0567:Heatr5a UTSW 12 51,956,872 (GRCm39) missense probably damaging 1.00
R0591:Heatr5a UTSW 12 51,956,884 (GRCm39) splice site probably benign
R0736:Heatr5a UTSW 12 51,943,344 (GRCm39) critical splice donor site probably null
R1532:Heatr5a UTSW 12 51,999,301 (GRCm39) missense probably damaging 0.99
R1956:Heatr5a UTSW 12 51,992,202 (GRCm39) critical splice donor site probably null
R1978:Heatr5a UTSW 12 51,986,441 (GRCm39) missense possibly damaging 0.77
R2044:Heatr5a UTSW 12 52,002,186 (GRCm39) missense probably benign 0.19
R2263:Heatr5a UTSW 12 51,962,933 (GRCm39) missense probably damaging 0.97
R2265:Heatr5a UTSW 12 51,940,528 (GRCm39) missense possibly damaging 0.68
R2267:Heatr5a UTSW 12 51,940,528 (GRCm39) missense possibly damaging 0.68
R2268:Heatr5a UTSW 12 51,940,528 (GRCm39) missense possibly damaging 0.68
R2269:Heatr5a UTSW 12 51,940,528 (GRCm39) missense possibly damaging 0.68
R2842:Heatr5a UTSW 12 52,002,260 (GRCm39) splice site probably null
R2842:Heatr5a UTSW 12 52,002,261 (GRCm39) missense probably null 1.00
R3033:Heatr5a UTSW 12 51,997,821 (GRCm39) nonsense probably null
R4303:Heatr5a UTSW 12 52,003,008 (GRCm39) missense probably benign 0.01
R4675:Heatr5a UTSW 12 51,924,130 (GRCm39) missense probably benign 0.17
R4718:Heatr5a UTSW 12 51,962,946 (GRCm39) missense possibly damaging 0.95
R4807:Heatr5a UTSW 12 51,924,303 (GRCm39) missense probably damaging 1.00
R5114:Heatr5a UTSW 12 52,003,020 (GRCm39) nonsense probably null
R5229:Heatr5a UTSW 12 51,994,761 (GRCm39) missense probably benign 0.33
R5411:Heatr5a UTSW 12 51,935,026 (GRCm39) missense probably damaging 1.00
R5548:Heatr5a UTSW 12 52,005,734 (GRCm39) nonsense probably null
R5603:Heatr5a UTSW 12 51,924,358 (GRCm39) missense probably benign 0.26
R5631:Heatr5a UTSW 12 52,002,310 (GRCm39) missense probably benign 0.22
R5742:Heatr5a UTSW 12 52,002,335 (GRCm39) nonsense probably null
R5969:Heatr5a UTSW 12 52,005,823 (GRCm39) missense probably benign
R6020:Heatr5a UTSW 12 51,931,110 (GRCm39) missense probably benign 0.01
R6234:Heatr5a UTSW 12 51,924,237 (GRCm39) missense possibly damaging 0.69
R6352:Heatr5a UTSW 12 51,997,949 (GRCm39) missense possibly damaging 0.88
R6798:Heatr5a UTSW 12 51,928,048 (GRCm39) missense probably benign 0.01
R6815:Heatr5a UTSW 12 52,002,291 (GRCm39) missense possibly damaging 0.89
R7059:Heatr5a UTSW 12 51,935,017 (GRCm39) missense probably damaging 0.98
R7143:Heatr5a UTSW 12 52,008,251 (GRCm39) missense probably benign 0.09
R7178:Heatr5a UTSW 12 51,971,925 (GRCm39) missense probably damaging 0.99
R7291:Heatr5a UTSW 12 51,972,122 (GRCm39) missense probably damaging 0.97
R7454:Heatr5a UTSW 12 52,008,326 (GRCm39) missense probably benign 0.20
R7511:Heatr5a UTSW 12 51,926,217 (GRCm39) missense possibly damaging 0.94
R7636:Heatr5a UTSW 12 51,999,341 (GRCm39) missense probably damaging 1.00
R7636:Heatr5a UTSW 12 51,934,979 (GRCm39) missense probably damaging 1.00
R7665:Heatr5a UTSW 12 52,008,313 (GRCm39) missense probably damaging 1.00
R8088:Heatr5a UTSW 12 51,994,779 (GRCm39) missense possibly damaging 0.85
R8205:Heatr5a UTSW 12 52,005,792 (GRCm39) missense probably benign 0.05
R8212:Heatr5a UTSW 12 51,946,012 (GRCm39) missense probably benign 0.00
R8213:Heatr5a UTSW 12 51,938,226 (GRCm39) missense probably damaging 0.96
R8323:Heatr5a UTSW 12 52,002,289 (GRCm39) missense probably benign 0.02
R8326:Heatr5a UTSW 12 51,934,702 (GRCm39) critical splice donor site probably benign
R8339:Heatr5a UTSW 12 51,934,702 (GRCm39) critical splice donor site probably benign
R8395:Heatr5a UTSW 12 51,962,961 (GRCm39) missense
R8410:Heatr5a UTSW 12 51,984,903 (GRCm39) missense probably benign 0.01
R8676:Heatr5a UTSW 12 51,934,702 (GRCm39) critical splice donor site probably benign
R8834:Heatr5a UTSW 12 51,956,739 (GRCm39) critical splice donor site probably null
R8916:Heatr5a UTSW 12 51,934,702 (GRCm39) critical splice donor site probably benign
R9057:Heatr5a UTSW 12 51,986,420 (GRCm39) missense probably damaging 1.00
R9248:Heatr5a UTSW 12 51,963,026 (GRCm39) missense
R9287:Heatr5a UTSW 12 51,967,260 (GRCm39) missense probably damaging 0.97
R9332:Heatr5a UTSW 12 51,946,068 (GRCm39) missense probably benign 0.33
R9454:Heatr5a UTSW 12 51,934,702 (GRCm39) critical splice donor site probably benign
R9515:Heatr5a UTSW 12 51,934,702 (GRCm39) critical splice donor site probably benign
R9654:Heatr5a UTSW 12 52,005,778 (GRCm39) missense probably damaging 1.00
V7732:Heatr5a UTSW 12 51,952,107 (GRCm39) missense possibly damaging 0.65
Z1088:Heatr5a UTSW 12 51,997,859 (GRCm39) missense probably benign 0.29
Z1088:Heatr5a UTSW 12 51,938,187 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGTTGTCAGGGAGCCATTTCC -3'
(R):5'- CAACTTCAGTAGATAGGGCACAGTATC -3'

Sequencing Primer
(F):5'- GTCAGGGAGCCATTTCCTACTAG -3'
(R):5'- TAGATAGGGCACAGTATCTCAGCTC -3'
Posted On 2014-07-14