Incidental Mutation 'IGL02093:Heatr5a'
ID279497
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: 0.300) question?
Stock #IGL02093
Quality Score
Status
Chromosome12
Chromosomal Location51875871-51971321 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 51916075 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 1014 (E1014G)
Ref Sequence ENSEMBL: ENSMUSP00000043115 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040583]
Predicted Effect possibly damaging
Transcript: ENSMUST00000040583
AA Change: E1014G

PolyPhen 2 Score 0.677 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000043115
Gene: ENSMUSG00000035181
AA Change: E1014G

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: E108G
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219641
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220369
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ackr1 T A 1: 173,332,829 Y41F probably benign Het
Amigo1 T C 3: 108,187,898 Y238H probably benign Het
Ankrd17 A G 5: 90,242,963 S2283P possibly damaging Het
Apobec4 A G 1: 152,756,368 H49R possibly damaging Het
Arhgap44 T C 11: 65,074,534 K34R probably damaging Het
Arsg A G 11: 109,525,446 Y173C possibly damaging Het
Arv1 C A 8: 124,730,878 L56M probably damaging Het
B3glct A T 5: 149,732,685 R194S probably benign Het
Ccdc39 T A 3: 33,832,568 Y297F probably benign Het
Dnah8 A G 17: 30,717,880 E1552G probably damaging Het
Dnajb9 T C 12: 44,207,204 H140R probably damaging Het
Dock5 T G 14: 67,839,543 probably benign Het
Egr2 G A 10: 67,540,024 G92D probably damaging Het
Evi2a G A 11: 79,527,664 S40L probably benign Het
Fshr A G 17: 89,001,889 probably null Het
Glce G A 9: 62,070,539 T21I probably damaging Het
Gucy2d C A 7: 98,443,548 S44* probably null Het
Hnrnpll A T 17: 80,044,504 H337Q probably benign Het
Jhy G T 9: 40,944,867 probably null Het
Kat5 A T 19: 5,603,875 M427K probably benign Het
Lama5 G A 2: 180,188,587 P1876S probably damaging Het
Lamc3 C A 2: 31,887,655 H104Q probably damaging Het
Lcn5 T C 2: 25,658,450 Y84H probably damaging Het
Mageb18 T A X: 92,120,266 K123N probably damaging Het
Mfhas1 T A 8: 35,589,344 N324K probably damaging Het
Nagk T C 6: 83,799,370 F189S probably damaging Het
Nbas T A 12: 13,560,962 M2218K probably benign Het
Nuak2 C A 1: 132,332,112 P543T probably benign Het
Olfr1323 C T X: 50,009,828 M136I possibly damaging Het
Olfr699 C T 7: 106,790,823 M59I probably benign Het
Prl8a9 T C 13: 27,559,453 Y123C probably damaging Het
Rapgef5 T C 12: 117,719,132 F220S probably damaging Het
Rexo4 T C 2: 26,962,518 D135G probably benign Het
Slc39a10 C T 1: 46,835,209 R311Q probably damaging Het
Slfn10-ps A T 11: 83,032,190 noncoding transcript Het
Tfrc A G 16: 32,630,194 E717G probably benign Het
Tg T A 15: 66,692,374 N1141K possibly damaging Het
Topors T C 4: 40,261,467 S606G probably damaging Het
Usp11 A G X: 20,719,352 D827G probably benign Het
Vmn2r1 A T 3: 64,104,709 M664L probably benign Het
Vmn2r14 A T 5: 109,220,409 M239K possibly damaging Het
Xiap T C X: 42,099,827 probably benign Het
Zfp2 G A 11: 50,901,004 P71S probably benign Het
Zhx1 T A 15: 58,052,868 T661S probably benign 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
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
IGL03160:Heatr5a APN 12 51884496 splice site probably benign
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 On2015-04-16