Incidental Mutation 'IGL03160:Heatr5a'
ID411398
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Heatr5a
Ensembl Gene ENSMUSG00000035181
Gene NameHEAT repeat containing 5A
SynonymsD930036F22Rik
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.271) question?
Stock #IGL03160
Quality Score
Status
Chromosome12
Chromosomal Location51875871-51971321 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to G at 51884496 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000043115 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040583]
Predicted Effect probably benign
Transcript: ENSMUST00000040583
SMART Domains Protein: ENSMUSP00000043115
Gene: ENSMUSG00000035181

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: ENSMUST00000181279
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218847
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220369
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actbl2 T C 13: 111,255,928 S266P probably benign Het
Agrn A T 4: 156,170,363 F1525Y probably damaging Het
Akap13 T C 7: 75,730,417 V2165A probably damaging Het
Cd109 G T 9: 78,661,056 probably null Het
Cdhr4 A C 9: 107,995,869 T339P probably benign Het
Chek1 T C 9: 36,722,645 H128R probably damaging Het
Clcn7 T A 17: 25,146,453 probably benign Het
Dnah9 A G 11: 66,108,054 F1056S probably damaging Het
Eml3 A T 19: 8,934,955 Q372L probably benign Het
Fam161b T C 12: 84,353,825 T458A probably benign Het
Fbxo3 T A 2: 104,030,347 C36* probably null Het
Gm28042 T A 2: 120,035,828 I369N possibly damaging Het
Gpc1 A G 1: 92,857,857 Y423C probably damaging Het
Hectd4 A T 5: 121,259,879 Y290F probably benign Het
Ifi207 T C 1: 173,735,104 probably benign Het
Kndc1 A T 7: 139,920,689 K657* probably null Het
Lama5 T C 2: 180,180,335 T2927A probably damaging Het
Lepr A T 4: 101,764,906 N345I probably damaging Het
Mtbp T C 15: 55,620,617 probably benign Het
Muc1 G A 3: 89,233,024 V608I possibly damaging Het
Olfr679 A G 7: 105,086,313 N199S probably damaging Het
P2ry13 A G 3: 59,210,075 L94P probably damaging Het
Retreg3 G T 11: 101,099,675 Q89K probably benign Het
Rhoq A C 17: 86,996,921 Y160S probably damaging Het
Samd9l A T 6: 3,374,894 V789D probably damaging Het
Slc35f5 T C 1: 125,574,735 S275P probably damaging Het
Slc51a G A 16: 32,478,750 R110C probably damaging Het
Snapc1 T A 12: 73,970,204 H205Q probably damaging Het
Stard3 G T 11: 98,378,911 R352L probably damaging Het
Stat5a A G 11: 100,861,845 I85V possibly damaging Het
Tenm3 A T 8: 48,646,418 D117E probably benign Het
Tg T A 15: 66,839,303 C971* probably null Het
Tnrc6c T A 11: 117,749,825 probably benign Het
Tra2a C T 6: 49,263,864 V4I possibly damaging Het
Trim54 C T 5: 31,132,080 T145I probably damaging Het
Vmn2r75 T C 7: 86,148,436 D723G probably damaging Het
Wisp3 T C 10: 39,153,237 T232A probably damaging Het
Wnk1 T C 6: 119,926,633 T2042A probably damaging Het
Zfp87 T C 13: 67,521,273 E18G probably damaging Het
Other mutations in Heatr5a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00339:Heatr5a APN 12 51888901 missense probably damaging 0.99
IGL01397:Heatr5a APN 12 51894369 missense possibly damaging 0.89
IGL01481:Heatr5a APN 12 51955425 missense probably damaging 1.00
IGL01684:Heatr5a APN 12 51955511 missense probably benign 0.36
IGL01766:Heatr5a APN 12 51889664 missense probably benign 0.15
IGL01799:Heatr5a APN 12 51897835 missense probably benign 0.17
IGL02007:Heatr5a APN 12 51916158 missense probably damaging 1.00
IGL02093:Heatr5a APN 12 51916075 missense possibly damaging 0.68
IGL02205:Heatr5a APN 12 51877337 missense probably damaging 1.00
IGL02450:Heatr5a APN 12 51945430 missense probably benign 0.02
IGL02565:Heatr5a APN 12 51951099 missense possibly damaging 0.54
IGL02707:Heatr5a APN 12 51921366 missense probably benign 0.01
IGL02735:Heatr5a APN 12 51915021 missense probably damaging 0.99
F5770:Heatr5a UTSW 12 51881278 splice site probably benign
R0034:Heatr5a UTSW 12 51925172 missense probably damaging 1.00
R0127:Heatr5a UTSW 12 51925405 missense probably benign
R0184:Heatr5a UTSW 12 51909969 missense probably benign 0.00
R0362:Heatr5a UTSW 12 51888861 missense probably damaging 1.00
R0567:Heatr5a UTSW 12 51910089 missense probably damaging 1.00
R0591:Heatr5a UTSW 12 51910101 splice site probably benign
R0736:Heatr5a UTSW 12 51896561 critical splice donor site probably null
R1532:Heatr5a UTSW 12 51952518 missense probably damaging 0.99
R1914:Heatr5a UTSW 12 51905467 missense probably damaging 1.00
R1956:Heatr5a UTSW 12 51945419 critical splice donor site probably null
R1978:Heatr5a UTSW 12 51939658 missense possibly damaging 0.77
R2044:Heatr5a UTSW 12 51955403 missense probably benign 0.19
R2263:Heatr5a UTSW 12 51916150 missense probably damaging 0.97
R2265:Heatr5a UTSW 12 51893745 missense possibly damaging 0.68
R2267:Heatr5a UTSW 12 51893745 missense possibly damaging 0.68
R2268:Heatr5a UTSW 12 51893745 missense possibly damaging 0.68
R2269:Heatr5a UTSW 12 51893745 missense possibly damaging 0.68
R2842:Heatr5a UTSW 12 51955478 missense probably null 1.00
R2842:Heatr5a UTSW 12 51955477 synonymous probably null
R3033:Heatr5a UTSW 12 51951038 nonsense probably null
R4303:Heatr5a UTSW 12 51956225 missense probably benign 0.01
R4675:Heatr5a UTSW 12 51877347 missense probably benign 0.17
R4718:Heatr5a UTSW 12 51916163 missense possibly damaging 0.95
R4807:Heatr5a UTSW 12 51877520 missense probably damaging 1.00
R5114:Heatr5a UTSW 12 51956237 nonsense probably null
R5229:Heatr5a UTSW 12 51947978 missense probably benign 0.33
R5411:Heatr5a UTSW 12 51888243 missense probably damaging 1.00
R5548:Heatr5a UTSW 12 51958951 nonsense probably null
R5603:Heatr5a UTSW 12 51877575 missense probably benign 0.26
R5631:Heatr5a UTSW 12 51955527 missense probably benign 0.22
R5742:Heatr5a UTSW 12 51955552 nonsense probably null
R5969:Heatr5a UTSW 12 51959040 missense probably benign
R6020:Heatr5a UTSW 12 51884327 missense probably benign 0.01
R6234:Heatr5a UTSW 12 51877454 missense possibly damaging 0.69
R6352:Heatr5a UTSW 12 51951166 missense possibly damaging 0.88
R6798:Heatr5a UTSW 12 51881265 missense probably benign 0.01
R6815:Heatr5a UTSW 12 51955508 missense possibly damaging 0.89
R7059:Heatr5a UTSW 12 51888234 missense probably damaging 0.98
R7143:Heatr5a UTSW 12 51961468 missense probably benign 0.09
R7178:Heatr5a UTSW 12 51925142 missense probably damaging 0.99
R7291:Heatr5a UTSW 12 51925339 missense probably damaging 0.97
R7454:Heatr5a UTSW 12 51961543 missense probably benign 0.20
R7511:Heatr5a UTSW 12 51879434 missense possibly damaging 0.94
R7636:Heatr5a UTSW 12 51888196 missense probably damaging 1.00
R7636:Heatr5a UTSW 12 51952558 missense probably damaging 1.00
R7665:Heatr5a UTSW 12 51961530 missense probably damaging 1.00
V7732:Heatr5a UTSW 12 51905324 missense possibly damaging 0.65
Z1088:Heatr5a UTSW 12 51891404 missense probably damaging 1.00
Z1088:Heatr5a UTSW 12 51951076 missense probably benign 0.29
Posted On2016-08-02