Incidental Mutation 'R2119:Heatr1'
ID 231312
Institutional Source Beutler Lab
Gene Symbol Heatr1
Ensembl Gene ENSMUSG00000050244
Gene Name HEAT repeat containing 1
Synonyms B130016L12Rik
MMRRC Submission 040123-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.965) question?
Stock # R2119 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 12410256-12453774 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 12447527 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 1740 (L1740Q)
Ref Sequence ENSEMBL: ENSMUSP00000054084 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059270]
AlphaFold G3X9B1
Predicted Effect probably null
Transcript: ENSMUST00000059270
AA Change: L1740Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000054084
Gene: ENSMUSG00000050244
AA Change: L1740Q

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 noncoding transcript
Transcript: ENSMUST00000221051
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221616
Predicted Effect probably damaging
Transcript: ENSMUST00000222091
AA Change: L340Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933430I17Rik T A 4: 62,457,109 (GRCm39) L143M possibly damaging Het
Actbl2 G A 13: 111,391,694 (GRCm39) V10I probably benign Het
Adamts12 C T 15: 11,310,665 (GRCm39) T974I probably damaging Het
Aifm2 G A 10: 61,571,383 (GRCm39) V306M possibly damaging Het
Arhgef38 T C 3: 132,866,514 (GRCm39) K208E probably benign Het
Atxn7l3 C A 11: 102,182,807 (GRCm39) R278L possibly damaging Het
Bcl9 A G 3: 97,116,231 (GRCm39) L821P probably benign Het
Cdh19 C T 1: 110,847,320 (GRCm39) V430I probably benign Het
Clns1a T A 7: 97,363,111 (GRCm39) probably null Het
Col3a1 T A 1: 45,385,281 (GRCm39) C133S probably damaging Het
Csmd1 G A 8: 17,266,749 (GRCm39) T59I probably damaging Het
Cyp2a12 A G 7: 26,736,071 (GRCm39) *493W probably null Het
Cyp2j8 A T 4: 96,395,438 (GRCm39) D62E probably benign Het
Dcbld1 A T 10: 52,196,075 (GRCm39) M428L probably benign Het
Dhx32 A T 7: 133,323,976 (GRCm39) Y523* probably null Het
Dlgap2 C T 8: 14,828,206 (GRCm39) A538V possibly damaging Het
Dlgap3 T C 4: 127,129,982 (GRCm39) S919P probably benign Het
Dmd G C X: 83,356,089 (GRCm39) A2257P probably benign Het
Dsc1 A T 18: 20,243,209 (GRCm39) H81Q probably benign Het
Dusp8 A T 7: 141,636,298 (GRCm39) S431T possibly damaging Het
Dync1i1 A T 6: 5,767,096 (GRCm39) T59S probably damaging Het
Ecel1 A G 1: 87,075,997 (GRCm39) S727P probably damaging Het
Ednrb T A 14: 104,059,204 (GRCm39) D274V probably benign Het
Eef1d G T 15: 75,775,062 (GRCm39) A199E probably benign Het
Eml3 T A 19: 8,911,718 (GRCm39) probably null Het
Enah G T 1: 181,749,318 (GRCm39) A138E probably damaging Het
Fgf18 A C 11: 33,068,003 (GRCm39) F129C probably damaging Het
Gba1 A T 3: 89,112,868 (GRCm39) E170V probably benign Het
Hdac1 C T 4: 129,416,157 (GRCm39) R212Q probably benign Het
Inhbb T A 1: 119,348,431 (GRCm39) H129L probably benign Het
Inpp5b T A 4: 124,691,662 (GRCm39) H862Q probably benign Het
Itsn2 C A 12: 4,757,025 (GRCm39) R1372S probably benign Het
Jaml T A 9: 45,012,362 (GRCm39) I283N probably damaging Het
Klk1b21 A T 7: 43,755,193 (GRCm39) T163S probably benign Het
Lmo3 A T 6: 138,393,492 (GRCm39) C43S probably damaging Het
Metrn C T 17: 26,014,197 (GRCm39) V210I probably benign Het
Ndufaf7 A T 17: 79,252,442 (GRCm39) I284F possibly damaging Het
Nlrp6 T C 7: 140,506,357 (GRCm39) V766A probably benign Het
Or10a5 A G 7: 106,635,938 (GRCm39) D192G probably damaging Het
Osbpl7 T C 11: 96,946,905 (GRCm39) S403P probably benign Het
Pabpc4l T C 3: 46,401,276 (GRCm39) T123A probably benign Het
Pde6d A G 1: 86,473,524 (GRCm39) F91L probably benign Het
Psg20 T A 7: 18,414,947 (GRCm39) Y316F probably benign Het
Psmd1 T A 1: 86,006,422 (GRCm39) S263T possibly damaging Het
Pum1 C A 4: 130,396,581 (GRCm39) T112K possibly damaging Het
Rasgrp2 T A 19: 6,454,425 (GRCm39) M156K probably benign Het
Reln T A 5: 22,223,998 (GRCm39) E917V probably damaging Het
Rfc4 A T 16: 22,943,314 (GRCm39) V61E probably damaging Het
Rnf112 C T 11: 61,341,854 (GRCm39) V317I possibly damaging Het
Rpe T C 1: 66,754,387 (GRCm39) M153T probably damaging Het
Rtn4ip1 A G 10: 43,811,993 (GRCm39) probably null Het
Sap18 T A 14: 58,036,011 (GRCm39) S66T probably damaging Het
Scamp5 C A 9: 57,354,508 (GRCm39) V49F possibly damaging Het
Serhl A G 15: 82,999,776 (GRCm39) Q252R probably benign Het
Sestd1 T C 2: 77,042,867 (GRCm39) D229G probably benign Het
Slc35g1 T C 19: 38,391,735 (GRCm39) V339A probably benign Het
Slc9b2 T A 3: 135,034,743 (GRCm39) probably null Het
Stk40 C T 4: 126,022,640 (GRCm39) T138I probably benign Het
Syt10 C T 15: 89,674,979 (GRCm39) D456N probably damaging Het
Tep1 T G 14: 51,076,443 (GRCm39) K1664Q probably benign Het
Tmod2 T C 9: 75,493,377 (GRCm39) K193E possibly damaging Het
Trak1 T A 9: 121,302,063 (GRCm39) *940R probably null Het
Ttc5 A T 14: 51,012,822 (GRCm39) Y189N probably damaging Het
Ugt2a3 A T 5: 87,484,430 (GRCm39) M198K probably damaging Het
Uox A G 3: 146,318,297 (GRCm39) H66R probably benign Het
Usp9y A T Y: 1,303,451 (GRCm39) D2487E probably benign Het
Vnn3 G A 10: 23,740,311 (GRCm39) G205R probably damaging Het
Vps11 T C 9: 44,260,294 (GRCm39) D856G probably benign Het
Zdhhc17 T C 10: 110,817,909 (GRCm39) N90D possibly damaging Het
Zfp105 T A 9: 122,758,743 (GRCm39) L138* probably null Het
Zfp28 A G 7: 6,397,875 (GRCm39) Y770C probably benign Het
Zfp655 T A 5: 145,181,594 (GRCm39) L484Q probably damaging Het
Zfp868 C A 8: 70,064,646 (GRCm39) E230* probably null Het
Zfpm2 A G 15: 40,966,419 (GRCm39) Y836C probably 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
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
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'- TCAGCACTGTTGGCACCAAG -3'
(R):5'- GACTGAGGGGTGAAACTGTC -3'

Sequencing Primer
(F):5'- GCATACTGTGGGTTACAG -3'
(R):5'- TGAAACTGTCCCCCTGGC -3'
Posted On 2014-09-18