Incidental Mutation 'R7665:Heatr5a'
ID 591880
Institutional Source Beutler Lab
Gene Symbol Heatr5a
Ensembl Gene ENSMUSG00000035181
Gene Name HEAT repeat containing 5A
Synonyms D930036F22Rik
MMRRC Submission 045739-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.249) question?
Stock # R7665 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 51922654-52018104 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 52008313 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 10 (N10I)
Ref Sequence ENSEMBL: ENSMUSP00000043115 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040583]
AlphaFold Q5PRF0
Predicted Effect probably damaging
Transcript: ENSMUST00000040583
AA Change: N10I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000043115
Gene: ENSMUSG00000035181
AA Change: N10I

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
Meta Mutation Damage Score 0.6416 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 100% (72/72)
Allele List at MGI
Other mutations in this stock
Total: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930519G04Rik A G 5: 115,012,384 (GRCm39) probably null Het
A830018L16Rik T C 1: 12,042,323 (GRCm39) S448P probably damaging Het
Abca4 C T 3: 121,838,139 (GRCm39) probably benign Het
Ackr2 A G 9: 121,738,374 (GRCm39) M250V probably benign Het
Actn4 A G 7: 28,615,632 (GRCm39) I147T probably damaging Het
Adgrv1 C T 13: 81,647,261 (GRCm39) S3093N probably damaging Het
Arid5b C T 10: 67,934,417 (GRCm39) G495E probably benign Het
Armh1 C A 4: 117,070,938 (GRCm39) A396S probably benign Het
Brwd1 G A 16: 95,842,543 (GRCm39) T798M probably benign Het
Cdk13 G A 13: 17,947,138 (GRCm39) T540I possibly damaging Het
Cdkn1c A G 7: 143,014,371 (GRCm39) V25A possibly damaging Het
Col2a1 T C 15: 97,874,581 (GRCm39) E1420G unknown Het
Dbf4 G A 5: 8,447,867 (GRCm39) P448S probably damaging Het
Dnajb7 T C 15: 81,291,620 (GRCm39) N239S probably benign Het
Dnttip1 A G 2: 164,596,061 (GRCm39) D102G probably damaging Het
Dpp8 T A 9: 64,986,000 (GRCm39) V830D probably damaging Het
Eddm13 G A 7: 6,272,891 (GRCm39) probably null Het
Eef1g T C 19: 8,945,653 (GRCm39) V29A probably benign Het
Enpp2 T A 15: 54,702,790 (GRCm39) Y906F probably damaging Het
Epb41l4a A G 18: 34,139,069 (GRCm39) L23P possibly damaging Het
Exoc1 T A 5: 76,691,420 (GRCm39) M248K probably benign Het
Fam83b T C 9: 76,398,157 (GRCm39) Y982C probably damaging Het
Fat4 C T 3: 38,943,327 (GRCm39) A740V probably benign Het
Fsip2 T A 2: 82,812,149 (GRCm39) S2823T probably benign Het
Gckr T C 5: 31,454,899 (GRCm39) Het
Gpr150 A T 13: 76,204,093 (GRCm39) V284E probably damaging Het
Grtp1 T G 8: 13,227,103 (GRCm39) I344L probably benign Het
Herc2 C A 7: 55,802,903 (GRCm39) L2109I probably damaging Het
Hs1bp3 T A 12: 8,367,935 (GRCm39) D61E probably damaging Het
Ifit1bl1 T A 19: 34,572,283 (GRCm39) Y58F probably benign Het
Itfg1 A G 8: 86,490,979 (GRCm39) F317L probably benign Het
Itsn1 T C 16: 91,638,491 (GRCm39) I764T unknown Het
Med8 A C 4: 118,268,853 (GRCm39) probably null Het
Mpeg1 C A 19: 12,440,458 (GRCm39) P639T probably damaging Het
Mtcl3 T A 10: 29,072,393 (GRCm39) Y562N probably damaging Het
Nedd9 A G 13: 41,469,785 (GRCm39) L456P probably benign Het
Neo1 A G 9: 58,833,078 (GRCm39) S556P probably damaging Het
Nphp3 T A 9: 103,882,592 (GRCm39) probably null Het
Nup205 T C 6: 35,154,555 (GRCm39) V53A possibly damaging Het
Nvl A T 1: 180,962,509 (GRCm39) S154T probably benign Het
Or10h1 G T 17: 33,418,603 (GRCm39) G194* probably null Het
Or1e31 A T 11: 73,689,787 (GRCm39) N265K probably benign Het
Or2ag2 A T 7: 106,485,880 (GRCm39) V48D possibly damaging Het
Or2h2c A G 17: 37,422,283 (GRCm39) M197T probably benign Het
Or51ah3 A T 7: 103,210,523 (GRCm39) I280F probably benign Het
Or9k7 T A 10: 130,047,130 (GRCm39) probably null Het
Parvg T C 15: 84,222,002 (GRCm39) I243T probably damaging Het
Paxip1 T A 5: 27,970,736 (GRCm39) M538L unknown Het
Pgghg G T 7: 140,525,382 (GRCm39) D428Y probably damaging Het
Pik3cd C T 4: 149,738,507 (GRCm39) V777M possibly damaging Het
Plcl2 A C 17: 50,914,185 (GRCm39) K398T probably benign Het
Plxna1 A T 6: 89,301,520 (GRCm39) probably null Het
Rbbp6 T A 7: 122,589,255 (GRCm39) probably null Het
Rbbp6 T C 7: 122,593,909 (GRCm39) Y514H possibly damaging Het
Scin T A 12: 40,119,414 (GRCm39) N538I probably damaging Het
Sdcbp A G 4: 6,385,144 (GRCm39) D121G probably benign Het
Sgk1 T C 10: 21,872,561 (GRCm39) I311T probably damaging Het
Shq1 A C 6: 100,550,717 (GRCm39) L407W probably damaging Het
Sipa1 A T 19: 5,701,699 (GRCm39) S979T probably benign Het
Slc25a37 G T 14: 69,487,028 (GRCm39) T85K probably benign Het
Spag9 A T 11: 93,904,480 (GRCm39) Q112L probably damaging Het
Spg11 A T 2: 121,896,748 (GRCm39) V1686E probably damaging Het
Stap2 A G 17: 56,304,909 (GRCm39) V291A probably benign Het
Tnk2 C T 16: 32,499,344 (GRCm39) R886C probably damaging Het
Tnrc6c T A 11: 117,611,777 (GRCm39) D138E possibly damaging Het
Unc13c A G 9: 73,587,756 (GRCm39) S1426P probably benign Het
Vav1 G A 17: 57,604,086 (GRCm39) V163M probably damaging Het
Vmn2r67 T A 7: 84,801,196 (GRCm39) K247* probably null Het
Zc2hc1c T C 12: 85,343,336 (GRCm39) V491A possibly damaging Het
Zfp51 A G 17: 21,683,843 (GRCm39) T153A probably benign Het
Zyx A G 6: 42,333,096 (GRCm39) E374G probably 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
R1914:Heatr5a UTSW 12 51,952,250 (GRCm39) missense probably damaging 1.00
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
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'- AGGAATCCACCATATTTCACTGC -3'
(R):5'- TCCTGCGGCAGTTCTAAAGC -3'

Sequencing Primer
(F):5'- CCTTTCACAAACTGATAGGTGAC -3'
(R):5'- CTGCGGCAGTTCTAAAGCTATAC -3'
Posted On 2019-11-12