Incidental Mutation 'IGL01397:Heatr5a'
ID 79493
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Heatr5a
Ensembl Gene ENSMUSG00000035181
Gene Name HEAT repeat containing 5A
Synonyms D930036F22Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.249) question?
Stock # IGL01397
Quality Score
Status
Chromosome 12
Chromosomal Location 51922654-52018104 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 51941152 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 1366 (V1366D)
Ref Sequence ENSEMBL: ENSMUSP00000043115 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040583]
AlphaFold Q5PRF0
Predicted Effect possibly damaging
Transcript: ENSMUST00000040583
AA Change: V1366D

PolyPhen 2 Score 0.887 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000043115
Gene: ENSMUSG00000035181
AA Change: V1366D

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: ENSMUST00000220369
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acoxl A C 2: 127,876,811 (GRCm39) T436P possibly damaging Het
Afap1 T A 5: 36,126,052 (GRCm39) V349E probably damaging Het
Arfgef1 C T 1: 10,229,796 (GRCm39) V1302I probably benign Het
Atp11a T A 8: 12,862,321 (GRCm39) W58R probably damaging Het
Brpf3 A T 17: 29,036,606 (GRCm39) K670N probably benign Het
Cd4 G A 6: 124,856,341 (GRCm39) T50I probably benign Het
Cenpp T C 13: 49,794,759 (GRCm39) D136G probably damaging Het
Cep85 T C 4: 133,883,517 (GRCm39) E124G probably damaging Het
Crybb3 T C 5: 113,227,701 (GRCm39) E40G probably damaging Het
Dennd2d G T 3: 106,394,365 (GRCm39) probably null Het
Dhx34 A G 7: 15,944,468 (GRCm39) L582P probably damaging Het
Dst A G 1: 34,296,825 (GRCm39) K5738R probably damaging Het
Eif4g1 T A 16: 20,498,425 (GRCm39) L328Q probably damaging Het
Eya4 T C 10: 23,015,897 (GRCm39) K357E probably benign Het
F8 A G X: 74,423,145 (GRCm39) S25P probably benign Het
Fgd2 A G 17: 29,586,949 (GRCm39) E293G probably damaging Het
Foxi1 T A 11: 34,157,599 (GRCm39) Q142L probably damaging Het
Gfm1 A G 3: 67,350,991 (GRCm39) E316G probably benign Het
Glb1l3 C T 9: 26,736,491 (GRCm39) D524N probably benign Het
Idh1 T C 1: 65,207,754 (GRCm39) T142A possibly damaging Het
Lamc1 C A 1: 153,126,880 (GRCm39) G422V probably damaging Het
Lars1 A T 18: 42,361,094 (GRCm39) H691Q probably damaging Het
Ltbp2 T C 12: 84,837,042 (GRCm39) Y1259C probably damaging Het
Muc19 T A 15: 91,778,498 (GRCm39) noncoding transcript Het
Nphs1 A G 7: 30,186,089 (GRCm39) D1240G probably benign Het
Or3a1b T A 11: 74,012,590 (GRCm39) N158K probably damaging Het
Or5w1 A T 2: 87,487,249 (GRCm39) N5K probably damaging Het
Pabir2 G A X: 52,349,088 (GRCm39) T121I probably damaging Het
Parp14 T C 16: 35,679,098 (GRCm39) N290S probably benign Het
Pex5l G A 3: 33,006,746 (GRCm39) T541I probably damaging Het
Plch1 A C 3: 63,639,150 (GRCm39) probably null Het
Ppp4r3b C T 11: 29,163,594 (GRCm39) A722V probably benign Het
Ptges3 T C 10: 127,906,069 (GRCm39) S85P probably benign Het
R3hdm2 C T 10: 127,294,719 (GRCm39) R201W probably damaging Het
Rcan2 C A 17: 44,147,359 (GRCm39) Q66K possibly damaging Het
Skint4 A G 4: 111,977,207 (GRCm39) N199S possibly damaging Het
Smc4 A G 3: 68,938,877 (GRCm39) T951A probably benign Het
Smg1 A T 7: 117,762,444 (GRCm39) probably benign Het
Snx30 T C 4: 59,894,526 (GRCm39) V368A probably benign Het
Spata31d1a C T 13: 59,849,552 (GRCm39) A859T probably damaging Het
Tg G A 15: 66,567,941 (GRCm39) probably benign Het
Tmem132b T C 5: 125,775,792 (GRCm39) V422A probably benign Het
Tnxb T C 17: 34,933,647 (GRCm39) S2356P probably damaging Het
Vmn1r122 A G 7: 20,867,707 (GRCm39) V116A possibly damaging Het
Washc2 A G 6: 116,224,959 (GRCm39) D683G probably benign Het
Wdr35 C A 12: 9,058,550 (GRCm39) T580K probably benign Het
Wwc2 T A 8: 48,321,311 (GRCm39) N601I unknown Het
Other mutations in Heatr5a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00339:Heatr5a APN 12 51,935,684 (GRCm39) missense probably damaging 0.99
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
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
Posted On 2013-11-05