Incidental Mutation 'R6352:Heatr5a'
ID 513298
Institutional Source Beutler Lab
Gene Symbol Heatr5a
Ensembl Gene ENSMUSG00000035181
Gene Name HEAT repeat containing 5A
Synonyms D930036F22Rik
MMRRC Submission 044504-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.249) question?
Stock # R6352 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 51922654-52018104 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 51997949 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 317 (S317T)
Ref Sequence ENSEMBL: ENSMUSP00000043115 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040583]
AlphaFold Q5PRF0
Predicted Effect possibly damaging
Transcript: ENSMUST00000040583
AA Change: S317T

PolyPhen 2 Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000043115
Gene: ENSMUSG00000035181
AA Change: S317T

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 noncoding transcript
Transcript: ENSMUST00000218254
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219277
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.2%
Validation Efficiency 96% (48/50)
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700122O11Rik T C 17: 48,347,945 (GRCm39) S120G probably benign Het
Abca13 G A 11: 9,259,139 (GRCm39) probably null Het
Aco1 G A 4: 40,186,367 (GRCm39) R593Q probably benign Het
Adgra3 T A 5: 50,136,478 (GRCm39) D669V probably benign Het
Adgra3 T A 5: 50,147,592 (GRCm39) M483L probably benign Het
Ccdc42 T C 11: 68,485,191 (GRCm39) V88A probably damaging Het
Cdh16 G C 8: 105,343,624 (GRCm39) S624C probably damaging Het
Cpt1c A T 7: 44,616,219 (GRCm39) probably null Het
Cul9 T C 17: 46,822,241 (GRCm39) T1795A probably benign Het
Dnah2 C T 11: 69,339,053 (GRCm39) V3098I probably damaging Het
Fbxl16 T C 17: 26,037,919 (GRCm39) L426P probably damaging Het
Flt4 T C 11: 49,534,333 (GRCm39) I1168T probably benign Het
Fmo5 T C 3: 97,552,991 (GRCm39) V313A probably benign Het
Foxj3 A G 4: 119,442,975 (GRCm39) N133S probably damaging Het
Gbp8 T C 5: 105,162,926 (GRCm39) I489M possibly damaging Het
Gm10801 TC TCGAC 2: 98,494,151 (GRCm39) probably benign Het
Hdgfl1 T G 13: 26,953,733 (GRCm39) E113D probably benign Het
Hycc2 A G 1: 58,596,471 (GRCm39) V38A probably damaging Het
Insr C T 8: 3,223,479 (GRCm39) probably null Het
Iqcf5 A G 9: 106,392,929 (GRCm39) E62G possibly damaging Het
Kcnj3 G A 2: 55,327,561 (GRCm39) V117I probably benign Het
Klf9 T A 19: 23,119,138 (GRCm39) M7K probably benign Het
Mboat1 G A 13: 30,386,403 (GRCm39) G139E possibly damaging Het
Mical3 T C 6: 120,929,434 (GRCm39) T1811A probably damaging Het
Mllt10 A C 2: 18,128,604 (GRCm39) K117T probably damaging Het
Mpped1 A G 15: 83,720,564 (GRCm39) D8G probably damaging Het
Myh4 A T 11: 67,143,108 (GRCm39) D1012V probably damaging Het
Myo9b C A 8: 71,801,054 (GRCm39) P1070T probably benign Het
Myo9b C T 8: 71,801,055 (GRCm39) P1071L probably benign Het
Nlrp1b T A 11: 71,072,527 (GRCm39) I439F probably damaging Het
Nlrp9a T A 7: 26,257,051 (GRCm39) I134N probably damaging Het
Nop2 C T 6: 125,114,170 (GRCm39) T212M probably benign Het
Notch4 T C 17: 34,786,435 (GRCm39) C188R probably damaging Het
Or10q12 A T 19: 13,745,828 (GRCm39) M41L probably benign Het
Or2ag19 G T 7: 106,444,429 (GRCm39) V204F probably damaging Het
Pgd C T 4: 149,245,209 (GRCm39) probably null Het
Plet1 T C 9: 50,412,407 (GRCm39) S142P probably damaging Het
Ptk7 A T 17: 46,887,816 (GRCm39) W539R probably benign Het
Ptprd A T 4: 76,009,789 (GRCm39) probably null Het
Rgs22 T G 15: 36,093,067 (GRCm39) Q402P probably damaging Het
Rpl10a T C 17: 28,549,820 (GRCm39) V167A possibly damaging Het
Sdr16c5 A G 4: 4,016,421 (GRCm39) S2P probably benign Het
Slc14a2 T C 18: 78,252,309 (GRCm39) M1V probably null Het
Spta1 T A 1: 174,039,212 (GRCm39) M1185K possibly damaging Het
Syde2 G T 3: 145,704,229 (GRCm39) E127* probably null Het
Thoc2l A G 5: 104,668,064 (GRCm39) E862G probably benign Het
Ugt2b38 T A 5: 87,571,860 (GRCm39) R57S possibly damaging Het
Wdr11 C T 7: 129,208,399 (GRCm39) L385F possibly damaging Het
Wdr74 T C 19: 8,716,822 (GRCm39) V200A 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
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
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'- GATCTCCTTTGCAGCAGCTATC -3'
(R):5'- TCACTGAGAGACTGGAACTCC -3'

Sequencing Primer
(F):5'- TGCGCCTTCTCTCCAAGCAG -3'
(R):5'- TCCAGTCTGGCCGCAAAC -3'
Posted On 2018-04-27