Incidental Mutation 'R9267:Heatr1'
ID 702635
Institutional Source Beutler Lab
Gene Symbol Heatr1
Ensembl Gene ENSMUSG00000050244
Gene Name HEAT repeat containing 1
Synonyms B130016L12Rik
MMRRC Submission
Accession Numbers
Essential gene? Probably essential (E-score: 0.964) question?
Stock # R9267 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 12410256-12453774 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 12421489 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 463 (F463S)
Ref Sequence ENSEMBL: ENSMUSP00000054084 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059270] [ENSMUST00000221046]
AlphaFold G3X9B1
Predicted Effect probably damaging
Transcript: ENSMUST00000059270
AA Change: F463S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000054084
Gene: ENSMUSG00000050244
AA Change: F463S

DomainStartEndE-ValueType
low complexity region 4 15 N/A INTRINSIC
Pfam:U3snoRNP10 238 354 7e-30 PFAM
SCOP:d1qbkb_ 919 1795 3e-8 SMART
low complexity region 1805 1814 N/A INTRINSIC
BP28CT 1856 2009 2.25e-77 SMART
Blast:BP28CT 2015 2061 2e-15 BLAST
coiled coil region 2109 2137 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000221046
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 98% (79/81)
Allele List at MGI
Other mutations in this stock
Total: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc4 G T 14: 118,869,657 (GRCm39) probably benign Het
Abcd2 T A 15: 91,063,423 (GRCm39) T422S possibly damaging Het
Acsl3 T G 1: 78,674,623 (GRCm39) I390S probably damaging Het
Adad1 T A 3: 37,139,074 (GRCm39) probably benign Het
Adam3 A G 8: 25,171,605 (GRCm39) V742A probably benign Het
Adgra3 A T 5: 50,155,618 (GRCm39) I450K possibly damaging Het
Adgrb2 T C 4: 129,885,901 (GRCm39) S14P possibly damaging Het
Arfgef3 T A 10: 18,475,028 (GRCm39) I1553F probably damaging Het
Btbd16 C T 7: 130,417,516 (GRCm39) R344C probably damaging Het
Ccdc27 A G 4: 154,117,441 (GRCm39) L502P probably damaging Het
Ccdc50 T A 16: 27,208,700 (GRCm39) L5Q Het
Cdh16 C T 8: 105,341,834 (GRCm39) G777D probably damaging Het
Cntn2 C A 1: 132,449,021 (GRCm39) V663L probably benign Het
Cpne4 T A 9: 104,884,833 (GRCm39) V343E probably damaging Het
Dctpp1 A T 7: 126,856,275 (GRCm39) I149N probably benign Het
Dlg5 T C 14: 24,204,745 (GRCm39) N1266S probably damaging Het
Dst A G 1: 34,232,145 (GRCm39) D3246G probably benign Het
Efcab8 G C 2: 153,646,861 (GRCm39) V397L unknown Het
Erbin T C 13: 103,987,292 (GRCm39) T423A probably damaging Het
Erich5 C T 15: 34,471,563 (GRCm39) P264L possibly damaging Het
Fam90a1a A G 8: 22,453,091 (GRCm39) M149V probably benign Het
Fbxl18 C T 5: 142,880,870 (GRCm39) G62R possibly damaging Het
Fech A G 18: 64,591,267 (GRCm39) S386P possibly damaging Het
Fhl3 T A 4: 124,601,498 (GRCm39) probably null Het
Fkbp5 A G 17: 28,629,558 (GRCm39) S256P probably benign Het
Frem2 A G 3: 53,564,504 (GRCm39) M1T probably null Het
Galnt5 T C 2: 57,925,220 (GRCm39) F834L possibly damaging Het
Gm3618 G T 14: 17,502,588 (GRCm39) T99N unknown Het
Gm9195 T A 14: 72,700,546 (GRCm39) Q1127L possibly damaging Het
Gpsm1 A G 2: 26,236,835 (GRCm39) D643G probably damaging Het
Grm4 A G 17: 27,654,183 (GRCm39) V589A possibly damaging Het
Gskip T A 12: 105,665,052 (GRCm39) F30L probably benign Het
Haus3 T A 5: 34,311,452 (GRCm39) probably null Het
Hmcn1 G A 1: 150,473,740 (GRCm39) S4851F probably benign Het
Il16 A C 7: 83,371,757 (GRCm39) F16L probably benign Het
Itga1 C A 13: 115,185,924 (GRCm39) C26F possibly damaging Het
Itga6 A G 2: 71,668,756 (GRCm39) E565G probably benign Het
Itgb4 A G 11: 115,870,465 (GRCm39) H98R probably benign Het
Kidins220 T A 12: 25,038,558 (GRCm39) S37T probably benign Het
Lrrc37 A T 11: 103,495,406 (GRCm39) D2804E unknown Het
Lrrk2 C T 15: 91,584,629 (GRCm39) L349F probably damaging Het
Malrd1 T G 2: 16,260,077 (GRCm39) I2099S unknown Het
Mapk8ip1 A G 2: 92,216,714 (GRCm39) I492T possibly damaging Het
Mest T A 6: 30,742,141 (GRCm39) D68E Het
Mthfd1l A G 10: 3,934,154 (GRCm39) D162G probably benign Het
Nalcn A T 14: 123,518,567 (GRCm39) D1657E probably benign Het
Nbeal2 C A 9: 110,462,115 (GRCm39) V1475F probably damaging Het
Nf1 C A 11: 79,331,716 (GRCm39) Q684K possibly damaging Het
Opn5 T A 17: 42,903,793 (GRCm39) T181S probably damaging Het
Or10ag54 T C 2: 87,099,326 (GRCm39) L67P possibly damaging Het
Or1j19 A T 2: 36,676,530 (GRCm39) probably benign Het
Or7a38 A G 10: 78,752,803 (GRCm39) N43S probably damaging Het
Or9s15 A T 1: 92,524,994 (GRCm39) H251L probably damaging Het
Or9s15 A T 1: 92,524,996 (GRCm39) M252L probably benign Het
Orc4 T A 2: 48,827,534 (GRCm39) R20* probably null Het
Pik3ca T C 3: 32,492,211 (GRCm39) Y270H probably damaging Het
Pkn2 T C 3: 142,517,676 (GRCm39) E474G probably null Het
Pnma8b A T 7: 16,679,159 (GRCm39) N48Y unknown Het
Pnpla2 A C 7: 141,036,503 (GRCm39) probably benign Het
Polr1a G A 6: 71,942,542 (GRCm39) M1127I probably benign Het
Ptpre A C 7: 135,274,549 (GRCm39) D507A probably damaging Het
Rab3gap2 T C 1: 184,983,331 (GRCm39) V490A probably damaging Het
Rab44 A T 17: 29,354,338 (GRCm39) probably benign Het
Rchy1 G T 5: 92,105,831 (GRCm39) T39N probably benign Het
Ripor1 A G 8: 106,348,063 (GRCm39) D1146G unknown Het
Sh3yl1 A T 12: 30,972,335 (GRCm39) I35F possibly damaging Het
Slc22a5 A G 11: 53,764,619 (GRCm39) F276L probably benign Het
Slc8a3 T A 12: 81,361,208 (GRCm39) D537V possibly damaging Het
Smc4 T A 3: 68,941,786 (GRCm39) I1263N probably damaging Het
Snai2 A T 16: 14,525,120 (GRCm39) T209S possibly damaging Het
Stam2 A T 2: 52,604,903 (GRCm39) Y211N probably damaging Het
Stxbp1 A G 2: 32,708,517 (GRCm39) S83P probably damaging Het
Susd4 T C 1: 182,716,389 (GRCm39) F325L probably benign Het
Tmem245 A G 4: 56,947,236 (GRCm39) V59A probably benign Het
Tnk2 A G 16: 32,494,489 (GRCm39) D469G probably damaging Het
Tpx2 A G 2: 152,732,517 (GRCm39) D597G probably damaging Het
Ube2w A T 1: 16,612,011 (GRCm39) S170R Het
Vmn2r102 A T 17: 19,896,928 (GRCm39) I92F probably damaging Het
Vmn2r11 T A 5: 109,199,929 (GRCm39) E508V possibly damaging Het
Vmn2r30 T A 7: 7,340,432 (GRCm39) I21F possibly damaging Het
Yipf2 G A 9: 21,501,489 (GRCm39) T187M possibly damaging Het
Zbtb8a T A 4: 129,248,267 (GRCm39) K335* probably null Het
Zfp609 T C 9: 65,608,328 (GRCm39) D1184G possibly damaging Het
Other mutations in Heatr1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00666:Heatr1 APN 13 12,425,331 (GRCm39) missense probably benign 0.00
IGL00863:Heatr1 APN 13 12,450,009 (GRCm39) missense probably benign 0.02
IGL00899:Heatr1 APN 13 12,450,057 (GRCm39) missense probably benign 0.31
IGL01147:Heatr1 APN 13 12,452,793 (GRCm39) missense probably damaging 0.99
IGL01317:Heatr1 APN 13 12,413,908 (GRCm39) missense probably damaging 1.00
IGL01323:Heatr1 APN 13 12,413,819 (GRCm39) missense possibly damaging 0.86
IGL01625:Heatr1 APN 13 12,428,409 (GRCm39) missense probably damaging 0.98
IGL01973:Heatr1 APN 13 12,444,680 (GRCm39) missense probably benign
IGL02803:Heatr1 APN 13 12,448,867 (GRCm39) missense probably damaging 0.96
IGL02830:Heatr1 APN 13 12,441,093 (GRCm39) missense possibly damaging 0.57
IGL02956:Heatr1 APN 13 12,430,940 (GRCm39) missense possibly damaging 0.53
IGL03000:Heatr1 APN 13 12,449,292 (GRCm39) missense probably damaging 0.99
IGL03024:Heatr1 APN 13 12,422,390 (GRCm39) unclassified probably benign
IGL03035:Heatr1 APN 13 12,428,100 (GRCm39) splice site probably benign
IGL03301:Heatr1 APN 13 12,449,086 (GRCm39) missense probably damaging 1.00
hasan UTSW 13 12,432,328 (GRCm39) splice site probably benign
H8562:Heatr1 UTSW 13 12,423,594 (GRCm39) missense probably benign 0.13
R0226:Heatr1 UTSW 13 12,425,443 (GRCm39) missense probably damaging 1.00
R0571:Heatr1 UTSW 13 12,445,121 (GRCm39) missense probably damaging 0.98
R0722:Heatr1 UTSW 13 12,420,918 (GRCm39) missense probably benign 0.14
R1264:Heatr1 UTSW 13 12,439,491 (GRCm39) unclassified probably benign
R1371:Heatr1 UTSW 13 12,432,513 (GRCm39) missense possibly damaging 0.80
R1388:Heatr1 UTSW 13 12,432,328 (GRCm39) splice site probably benign
R1396:Heatr1 UTSW 13 12,420,927 (GRCm39) missense possibly damaging 0.86
R1519:Heatr1 UTSW 13 12,427,040 (GRCm39) missense probably benign
R1689:Heatr1 UTSW 13 12,439,506 (GRCm39) missense probably benign 0.00
R1696:Heatr1 UTSW 13 12,438,602 (GRCm39) missense possibly damaging 0.96
R1756:Heatr1 UTSW 13 12,411,341 (GRCm39) missense probably benign 0.01
R1859:Heatr1 UTSW 13 12,418,040 (GRCm39) missense probably damaging 1.00
R1932:Heatr1 UTSW 13 12,450,066 (GRCm39) missense probably damaging 1.00
R1957:Heatr1 UTSW 13 12,411,419 (GRCm39) missense probably damaging 1.00
R2018:Heatr1 UTSW 13 12,429,359 (GRCm39) missense possibly damaging 0.68
R2106:Heatr1 UTSW 13 12,426,939 (GRCm39) missense probably benign 0.03
R2119:Heatr1 UTSW 13 12,447,527 (GRCm39) missense probably null 1.00
R2121:Heatr1 UTSW 13 12,418,145 (GRCm39) missense probably benign 0.10
R2122:Heatr1 UTSW 13 12,418,145 (GRCm39) missense probably benign 0.10
R2367:Heatr1 UTSW 13 12,448,605 (GRCm39) missense probably damaging 1.00
R3777:Heatr1 UTSW 13 12,428,229 (GRCm39) missense possibly damaging 0.92
R3783:Heatr1 UTSW 13 12,449,341 (GRCm39) missense probably damaging 1.00
R3784:Heatr1 UTSW 13 12,449,341 (GRCm39) missense probably damaging 1.00
R3786:Heatr1 UTSW 13 12,449,341 (GRCm39) missense probably damaging 1.00
R3787:Heatr1 UTSW 13 12,449,341 (GRCm39) missense probably damaging 1.00
R3843:Heatr1 UTSW 13 12,450,002 (GRCm39) missense probably benign 0.00
R4533:Heatr1 UTSW 13 12,449,392 (GRCm39) missense probably benign 0.05
R4725:Heatr1 UTSW 13 12,439,543 (GRCm39) nonsense probably null
R4763:Heatr1 UTSW 13 12,445,811 (GRCm39) missense possibly damaging 0.65
R4793:Heatr1 UTSW 13 12,446,718 (GRCm39) missense probably benign 0.00
R4797:Heatr1 UTSW 13 12,426,929 (GRCm39) missense probably benign 0.36
R4798:Heatr1 UTSW 13 12,426,929 (GRCm39) missense probably benign 0.36
R4942:Heatr1 UTSW 13 12,428,391 (GRCm39) critical splice acceptor site probably null
R4952:Heatr1 UTSW 13 12,425,480 (GRCm39) missense probably benign 0.38
R4954:Heatr1 UTSW 13 12,422,397 (GRCm39) critical splice acceptor site probably null
R5370:Heatr1 UTSW 13 12,416,403 (GRCm39) missense probably benign 0.02
R5464:Heatr1 UTSW 13 12,448,524 (GRCm39) missense probably benign 0.00
R5483:Heatr1 UTSW 13 12,413,795 (GRCm39) missense probably damaging 1.00
R5497:Heatr1 UTSW 13 12,435,945 (GRCm39) missense possibly damaging 0.93
R5504:Heatr1 UTSW 13 12,421,500 (GRCm39) missense possibly damaging 0.64
R5527:Heatr1 UTSW 13 12,419,829 (GRCm39) missense probably benign
R5527:Heatr1 UTSW 13 12,417,641 (GRCm39) missense probably damaging 1.00
R5836:Heatr1 UTSW 13 12,423,617 (GRCm39) missense probably damaging 0.99
R5916:Heatr1 UTSW 13 12,449,352 (GRCm39) missense probably damaging 1.00
R6018:Heatr1 UTSW 13 12,420,939 (GRCm39) missense probably benign 0.26
R6018:Heatr1 UTSW 13 12,419,828 (GRCm39) missense probably benign
R6216:Heatr1 UTSW 13 12,447,545 (GRCm39) missense probably benign 0.16
R6396:Heatr1 UTSW 13 12,420,978 (GRCm39) missense possibly damaging 0.86
R6472:Heatr1 UTSW 13 12,449,111 (GRCm39) missense probably benign 0.29
R6922:Heatr1 UTSW 13 12,449,956 (GRCm39) missense probably benign 0.00
R7077:Heatr1 UTSW 13 12,433,045 (GRCm39) missense possibly damaging 0.63
R7297:Heatr1 UTSW 13 12,435,941 (GRCm39) nonsense probably null
R7445:Heatr1 UTSW 13 12,445,919 (GRCm39) missense possibly damaging 0.70
R7669:Heatr1 UTSW 13 12,426,143 (GRCm39) missense probably benign 0.33
R7672:Heatr1 UTSW 13 12,453,545 (GRCm39) missense probably damaging 0.96
R7772:Heatr1 UTSW 13 12,432,522 (GRCm39) missense probably benign 0.03
R8205:Heatr1 UTSW 13 12,430,928 (GRCm39) missense probably benign
R8518:Heatr1 UTSW 13 12,425,415 (GRCm39) missense probably benign
R8754:Heatr1 UTSW 13 12,428,175 (GRCm39) missense probably damaging 0.99
R8874:Heatr1 UTSW 13 12,445,793 (GRCm39) missense probably damaging 1.00
R8992:Heatr1 UTSW 13 12,415,995 (GRCm39) missense probably damaging 0.98
R9045:Heatr1 UTSW 13 12,428,233 (GRCm39) missense probably benign 0.00
R9077:Heatr1 UTSW 13 12,428,247 (GRCm39) missense probably benign
R9183:Heatr1 UTSW 13 12,436,266 (GRCm39) missense probably damaging 0.99
R9186:Heatr1 UTSW 13 12,436,227 (GRCm39) missense probably damaging 1.00
R9223:Heatr1 UTSW 13 12,419,802 (GRCm39) missense probably benign 0.00
R9242:Heatr1 UTSW 13 12,448,806 (GRCm39) missense probably benign
R9289:Heatr1 UTSW 13 12,447,608 (GRCm39) missense probably benign 0.13
R9310:Heatr1 UTSW 13 12,453,491 (GRCm39) missense probably benign
R9312:Heatr1 UTSW 13 12,446,565 (GRCm39) missense probably benign
R9358:Heatr1 UTSW 13 12,433,087 (GRCm39) missense probably benign 0.09
R9385:Heatr1 UTSW 13 12,421,423 (GRCm39) missense probably damaging 1.00
R9530:Heatr1 UTSW 13 12,439,607 (GRCm39) missense probably damaging 1.00
R9532:Heatr1 UTSW 13 12,429,306 (GRCm39) missense possibly damaging 0.72
R9647:Heatr1 UTSW 13 12,441,679 (GRCm39) missense probably benign 0.00
R9683:Heatr1 UTSW 13 12,449,140 (GRCm39) missense probably damaging 1.00
R9695:Heatr1 UTSW 13 12,438,624 (GRCm39) missense probably damaging 1.00
RF011:Heatr1 UTSW 13 12,422,425 (GRCm39) missense probably benign 0.00
Z1176:Heatr1 UTSW 13 12,413,889 (GRCm39) missense possibly damaging 0.68
Predicted Primers PCR Primer
(F):5'- GTGACAGACTTGATCAATATTAGCC -3'
(R):5'- TAATCATGTGACTGCAGGCCC -3'

Sequencing Primer
(F):5'- GCATGTGTTAAAATTACGTTTCACTC -3'
(R):5'- TGCACTGGTAGATGCACG -3'
Posted On 2022-03-25