Incidental Mutation 'R1978:Heatr5a'
ID 222050
Institutional Source Beutler Lab
Gene Symbol Heatr5a
Ensembl Gene ENSMUSG00000035181
Gene Name HEAT repeat containing 5A
Synonyms D930036F22Rik
MMRRC Submission 039991-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.249) question?
Stock # R1978 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 51922654-52018104 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 51986441 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 591 (S591T)
Ref Sequence ENSEMBL: ENSMUSP00000043115 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040583]
AlphaFold Q5PRF0
Predicted Effect possibly damaging
Transcript: ENSMUST00000040583
AA Change: S591T

PolyPhen 2 Score 0.773 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000043115
Gene: ENSMUSG00000035181
AA Change: S591T

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220369
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik T A 5: 64,055,880 (GRCm39) C205* probably null Het
4921539E11Rik T A 4: 103,127,961 (GRCm39) T55S possibly damaging Het
Akap12 A G 10: 4,263,855 (GRCm39) D88G probably benign Het
Ankrd53 C A 6: 83,740,185 (GRCm39) F84L probably damaging Het
Apol7b A C 15: 77,307,539 (GRCm39) F319V probably damaging Het
Bsn A G 9: 107,991,748 (GRCm39) S1335P probably benign Het
Cep192 T C 18: 67,936,228 (GRCm39) probably null Het
Cfap57 A G 4: 118,450,329 (GRCm39) S598P probably benign Het
Commd8 T C 5: 72,322,842 (GRCm39) H25R probably damaging Het
Crisp4 T C 1: 18,198,889 (GRCm39) I143V probably benign Het
Cyp4a12b A T 4: 115,295,342 (GRCm39) T483S probably benign Het
Dbx2 C T 15: 95,530,234 (GRCm39) M244I probably damaging Het
Dnah6 T G 6: 73,098,953 (GRCm39) H1982P possibly damaging Het
Fam220a C A 5: 143,548,882 (GRCm39) P98Q probably damaging Het
Ggnbp1 A G 17: 27,248,517 (GRCm39) K29E possibly damaging Het
Gm14569 A C X: 35,695,781 (GRCm39) M976R probably benign Het
Hck G T 2: 152,971,776 (GRCm39) W112C probably damaging Het
Hhat A G 1: 192,399,415 (GRCm39) S242P probably benign Het
Hnrnpll A G 17: 80,351,947 (GRCm39) S333P probably benign Het
Hoxc6 T C 15: 102,918,439 (GRCm39) probably null Het
Inpp5j G A 11: 3,452,150 (GRCm39) P367S probably damaging Het
Lamc2 A G 1: 153,009,343 (GRCm39) probably null Het
Loxhd1 T A 18: 77,409,338 (GRCm39) I194N possibly damaging Het
Miga1 CCAGGGCAG CCAG 3: 152,040,941 (GRCm39) probably null Het
Mkln1 C T 6: 31,467,465 (GRCm39) Q60* probably null Het
Muc21 T A 17: 35,933,857 (GRCm39) probably benign Het
Mybph C A 1: 134,124,734 (GRCm39) H185N probably benign Het
Myo1g T C 11: 6,470,829 (GRCm39) D9G possibly damaging Het
Myo6 A T 9: 80,136,207 (GRCm39) D110V probably damaging Het
Ncoa7 A G 10: 30,567,295 (GRCm39) V412A probably benign Het
Neb T C 2: 52,177,357 (GRCm39) K1328R probably damaging Het
Olfm5 T A 7: 103,813,948 (GRCm39) Q22L unknown Het
Or10ak7 A T 4: 118,791,381 (GRCm39) Y221* probably null Het
Or4d11 T C 19: 12,013,705 (GRCm39) T134A probably benign Het
Or5j1 C T 2: 86,879,179 (GRCm39) V134M possibly damaging Het
Or6b3 C A 1: 92,439,499 (GRCm39) G84C probably damaging Het
Or6p1 T A 1: 174,258,657 (GRCm39) I221N probably damaging Het
Or7a39 A G 10: 78,715,114 (GRCm39) Y36C probably damaging Het
P3h1 A T 4: 119,105,173 (GRCm39) Q717L probably null Het
Pclo T C 5: 14,763,809 (GRCm39) I4094T unknown Het
Pfdn6 G A 17: 34,158,051 (GRCm39) R73W probably benign Het
Phyhipl A C 10: 70,395,591 (GRCm39) M205R possibly damaging Het
Pitpnm1 C T 19: 4,157,973 (GRCm39) probably null Het
Plcg1 A G 2: 160,594,498 (GRCm39) probably null Het
Pnldc1 A G 17: 13,125,392 (GRCm39) S81P possibly damaging Het
Pno1 T C 11: 17,154,519 (GRCm39) I221V possibly damaging Het
Porcn A G X: 8,070,540 (GRCm39) V75A probably damaging Het
Prkcg T A 7: 3,353,862 (GRCm39) C69S probably damaging Het
Rbbp6 G T 7: 122,598,711 (GRCm39) probably benign Het
Resf1 T A 6: 149,227,930 (GRCm39) N325K probably benign Het
Rif1 GCCACCA GCCA 2: 52,000,336 (GRCm39) probably benign Het
Scly A G 1: 91,247,891 (GRCm39) D413G probably damaging Het
Scn11a G A 9: 119,609,861 (GRCm39) R996* probably null Het
Skic3 T C 13: 76,282,934 (GRCm39) V752A probably benign Het
Slc6a13 A T 6: 121,309,332 (GRCm39) D281V probably damaging Het
Slfn5 T C 11: 82,847,442 (GRCm39) V109A probably benign Het
Smyd1 A T 6: 71,289,703 (GRCm39) probably null Het
Snx29 T A 16: 11,185,588 (GRCm39) M57K probably benign Het
Stag1 T G 9: 100,770,139 (GRCm39) I603S probably benign Het
Svep1 C A 4: 58,097,292 (GRCm39) C1417F possibly damaging Het
Tbc1d23 T C 16: 57,009,714 (GRCm39) I392V probably benign Het
Tchh T C 3: 93,354,106 (GRCm39) L1182P unknown Het
Tle3 T A 9: 61,301,915 (GRCm39) V108E probably damaging Het
Tmem144 T C 3: 79,732,707 (GRCm39) probably null Het
Tpr T G 1: 150,295,658 (GRCm39) L894V possibly damaging Het
Trappc9 A T 15: 72,871,874 (GRCm39) V472E probably damaging Het
Trim38 T C 13: 23,975,081 (GRCm39) V340A probably damaging Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Vmn1r12 T A 6: 57,136,494 (GRCm39) I197N possibly damaging Het
Vmn1r26 T C 6: 57,986,111 (GRCm39) Y26C possibly damaging Het
Vwa3a A G 7: 120,358,177 (GRCm39) I83V probably null Het
Xirp1 C T 9: 119,847,657 (GRCm39) E409K probably benign Het
Zc3h14 T G 12: 98,730,181 (GRCm39) I46R probably damaging Het
Zfp976 A G 7: 42,263,265 (GRCm39) C191R 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
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'- GGAAACACCAGCCAGATTCCTG -3'
(R):5'- CTGGGCTGCAACACTTAATAACC -3'

Sequencing Primer
(F):5'- AGATTCCTGTCCCCTTACACTAAATG -3'
(R):5'- CTGCAACACTTAATAACCATTCATTG -3'
Posted On 2014-08-25