Incidental Mutation 'R3843:Heatr1'
ID 277256
Institutional Source Beutler Lab
Gene Symbol Heatr1
Ensembl Gene ENSMUSG00000050244
Gene Name HEAT repeat containing 1
Synonyms B130016L12Rik
MMRRC Submission 040783-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.965) question?
Stock # R3843 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 12410256-12453774 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 12450002 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 1999 (Y1999H)
Ref Sequence ENSEMBL: ENSMUSP00000054084 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059270] [ENSMUST00000099820] [ENSMUST00000099821] [ENSMUST00000124888] [ENSMUST00000135166] [ENSMUST00000143693]
AlphaFold G3X9B1
Predicted Effect probably benign
Transcript: ENSMUST00000059270
AA Change: Y1999H

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000054084
Gene: ENSMUSG00000050244
AA Change: Y1999H

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: ENSMUST00000099820
SMART Domains Protein: ENSMUSP00000097408
Gene: ENSMUSG00000057554

DomainStartEndE-ValueType
GLECT 16 151 3.05e-50 SMART
Gal-bind_lectin 22 150 7.41e-55 SMART
GLECT 184 316 1.38e-48 SMART
Gal-bind_lectin 190 315 1.28e-49 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000099821
SMART Domains Protein: ENSMUSP00000097409
Gene: ENSMUSG00000057554

DomainStartEndE-ValueType
GLECT 16 151 3.05e-50 SMART
Gal-bind_lectin 22 150 7.41e-55 SMART
GLECT 184 316 1.38e-48 SMART
Gal-bind_lectin 190 315 1.28e-49 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000124888
SMART Domains Protein: ENSMUSP00000115094
Gene: ENSMUSG00000057554

DomainStartEndE-ValueType
GLECT 16 151 3.05e-50 SMART
Gal-bind_lectin 22 150 7.41e-55 SMART
GLECT 184 316 1.38e-48 SMART
Gal-bind_lectin 190 315 1.28e-49 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133143
Predicted Effect probably benign
Transcript: ENSMUST00000135166
SMART Domains Protein: ENSMUSP00000120210
Gene: ENSMUSG00000057554

DomainStartEndE-ValueType
Pfam:Gal-bind_lectin 1 57 4e-16 PFAM
GLECT 91 223 1.38e-48 SMART
Gal-bind_lectin 97 222 1.28e-49 SMART
Predicted Effect unknown
Transcript: ENSMUST00000222091
AA Change: Y599H
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221616
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221051
Predicted Effect probably benign
Transcript: ENSMUST00000143693
SMART Domains Protein: ENSMUSP00000118925
Gene: ENSMUSG00000057554

DomainStartEndE-ValueType
Pfam:Gal-bind_lectin 1 57 4e-16 PFAM
GLECT 91 223 1.38e-48 SMART
Gal-bind_lectin 97 222 1.28e-49 SMART
Meta Mutation Damage Score 0.0853 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 96.0%
Validation Efficiency 100% (35/35)
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass A T 6: 23,092,495 (GRCm39) Y168* probably null Het
Amt C T 9: 108,174,420 (GRCm39) R62C possibly damaging Het
Arid2 C T 15: 96,249,721 (GRCm39) T145I possibly damaging Het
Ccdc8 T C 7: 16,729,039 (GRCm39) V176A probably damaging Het
Cdhr1 G T 14: 36,806,884 (GRCm39) F440L probably benign Het
Ckap2 A T 8: 22,665,774 (GRCm39) N424K probably damaging Het
Col6a1 C T 10: 76,547,175 (GRCm39) R730H unknown Het
Dennd1b C A 1: 138,981,092 (GRCm39) P102Q probably damaging Het
E2f1 A G 2: 154,402,748 (GRCm39) S340P probably benign Het
Eef1akmt2 C T 7: 132,433,305 (GRCm39) V134I probably damaging Het
Elp3 A T 14: 65,802,932 (GRCm39) probably null Het
Grap T G 11: 61,551,151 (GRCm39) probably null Het
Hectd4 G T 5: 121,397,936 (GRCm39) W288L possibly damaging Het
Hnf4g G A 3: 3,716,362 (GRCm39) C262Y probably benign Het
Hrh4 A G 18: 13,155,343 (GRCm39) Y294C possibly damaging Het
Igkv5-39 C A 6: 69,877,526 (GRCm39) G77W probably damaging Het
Kdm2b A T 5: 123,072,856 (GRCm39) Y341N probably damaging Het
Kif26b T C 1: 178,755,742 (GRCm39) L1952P probably damaging Het
Lgr4 C T 2: 109,827,118 (GRCm39) probably benign Het
Nlrc3 G A 16: 3,782,828 (GRCm39) R194W probably benign Het
Nup214 T C 2: 31,941,112 (GRCm39) F547L probably damaging Het
Or5m3 A G 2: 85,838,548 (GRCm39) I143V probably benign Het
Pdp1 T C 4: 11,961,961 (GRCm39) K117E probably benign Het
Phtf2 G A 5: 20,979,020 (GRCm39) A31V probably damaging Het
Pip4p2 T A 4: 14,886,553 (GRCm39) Y42* probably null Het
Pkhd1 A T 1: 20,628,947 (GRCm39) C667S probably benign Het
Pnp2 T A 14: 51,200,878 (GRCm39) L121Q probably null Het
Ppfia1 C T 7: 144,058,707 (GRCm39) R698Q probably benign Het
Sidt1 A T 16: 44,104,587 (GRCm39) F275I probably benign Het
Slc50a1 A T 3: 89,177,207 (GRCm39) I70N probably damaging Het
Sytl2 C G 7: 90,009,367 (GRCm39) T123R possibly damaging Het
Tlk1 T A 2: 70,579,671 (GRCm39) T214S probably benign Het
Tmco3 A G 8: 13,346,114 (GRCm39) probably benign Het
Trim71 T C 9: 114,344,914 (GRCm39) T335A probably benign Het
Zbtb47 T A 9: 121,592,499 (GRCm39) V273E 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
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
R9267:Heatr1 UTSW 13 12,421,489 (GRCm39) missense probably damaging 1.00
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'- TCTAAAGGAGAGCCCCATCTG -3'
(R):5'- GACTAAGCCTTGTAAGCTATCATG -3'

Sequencing Primer
(F):5'- GTTGTACCATTTACAGCTTCTAGG -3'
(R):5'- TGTCACATATACAAACCCTGCAGAG -3'
Posted On 2015-04-06