Incidental Mutation 'R6815:Heatr4'
ID 537295
Institutional Source Beutler Lab
Gene Symbol Heatr4
Ensembl Gene ENSMUSG00000090843
Gene Name HEAT repeat containing 4
Synonyms Gm17673
MMRRC Submission 044927-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.069) question?
Stock # R6815 (G1)
Quality Score 225.009
Status Not validated
Chromosome 12
Chromosomal Location 84001273-84031626 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 84026501 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 252 (Q252L)
Ref Sequence ENSEMBL: ENSMUSP00000129832 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000164935]
AlphaFold E9Q357
Predicted Effect probably damaging
Transcript: ENSMUST00000164935
AA Change: Q252L

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000129832
Gene: ENSMUSG00000090843
AA Change: Q252L

DomainStartEndE-ValueType
low complexity region 153 166 N/A INTRINSIC
low complexity region 261 272 N/A INTRINSIC
low complexity region 289 303 N/A INTRINSIC
low complexity region 533 548 N/A INTRINSIC
internal_repeat_1 577 711 2.78e-6 PROSPERO
Pfam:HEAT_2 776 890 1.8e-8 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931414P19Rik T G 14: 54,828,610 (GRCm39) N297T probably damaging Het
6820408C15Rik A G 2: 152,282,975 (GRCm39) N251S probably benign Het
Abcc5 T C 16: 20,152,380 (GRCm39) T1389A probably damaging Het
Acad11 A G 9: 103,958,526 (GRCm39) T265A probably benign Het
Ace3 C T 11: 105,888,084 (GRCm39) Q302* probably null Het
Aip A T 19: 4,166,066 (GRCm39) H128Q probably benign Het
Akr1b7 A T 6: 34,389,269 (GRCm39) probably null Het
Arid4a T A 12: 71,063,856 (GRCm39) probably null Het
Armh1 T A 4: 117,087,134 (GRCm39) H177L probably damaging Het
Aspm A G 1: 139,407,880 (GRCm39) T2256A probably benign Het
Bco1 A T 8: 117,840,261 (GRCm39) M260L probably benign Het
Ccdc110 A G 8: 46,395,024 (GRCm39) N305S probably benign Het
Ccdc158 T A 5: 92,760,345 (GRCm39) Y1035F probably damaging Het
Cd180 C T 13: 102,841,937 (GRCm39) L328F probably damaging Het
Cntrl T C 2: 35,039,503 (GRCm39) L1121P probably damaging Het
Cyp2u1 A C 3: 131,091,659 (GRCm39) I287S probably damaging Het
Dnah3 C T 7: 119,570,950 (GRCm39) M2195I probably benign Het
Dnajc21 C T 15: 10,447,777 (GRCm39) probably null Het
Dock10 C T 1: 80,516,576 (GRCm39) V1398M possibly damaging Het
Dpy19l3 T A 7: 35,449,272 (GRCm39) I44F possibly damaging Het
Dst C A 1: 34,267,450 (GRCm39) T4964K possibly damaging Het
Ercc4 T C 16: 12,941,299 (GRCm39) I139T probably damaging Het
Gpr4 T A 7: 18,956,560 (GRCm39) F161I probably damaging Het
Gucy2e A C 11: 69,122,827 (GRCm39) L516R possibly damaging Het
Hdhd5 A G 6: 120,498,170 (GRCm39) V143A probably benign Het
Heatr5a T G 12: 52,002,291 (GRCm39) D215A possibly damaging Het
Hipk2 G T 6: 38,795,777 (GRCm39) A164D probably damaging Het
Igsf11 A G 16: 38,829,243 (GRCm39) I46V probably benign Het
Iqgap1 C T 7: 80,416,632 (GRCm39) probably null Het
Lrig1 A G 6: 94,602,010 (GRCm39) L281P probably damaging Het
Or10p22 A G 10: 128,826,191 (GRCm39) S137G probably benign Het
Or7g32 G T 9: 19,389,061 (GRCm39) H159N probably benign Het
Pcdha7 A G 18: 37,108,174 (GRCm39) T400A probably damaging Het
Pde5a A G 3: 122,618,573 (GRCm39) T629A probably benign Het
Pkhd1l1 A G 15: 44,426,051 (GRCm39) D3204G probably damaging Het
Prkd2 T C 7: 16,577,718 (GRCm39) F57S probably benign Het
Prr15l T C 11: 96,825,433 (GRCm39) V21A probably damaging Het
Rag2 T A 2: 101,460,900 (GRCm39) N403K probably damaging Het
Rsf1 ATGGCG ATGGCGACGGTGGCG 7: 97,229,111 (GRCm39) probably benign Het
Rtl1 C A 12: 109,560,937 (GRCm39) D301Y probably damaging Het
Septin14 T C 5: 129,770,051 (GRCm39) N215S probably benign Het
Sin3a T A 9: 57,024,824 (GRCm39) D1061E probably benign Het
Skint5 T A 4: 113,574,324 (GRCm39) probably null Het
Stox2 A T 8: 47,646,136 (GRCm39) D441E probably damaging Het
Tmem52b G A 6: 129,493,705 (GRCm39) probably null Het
Tpm3-rs7 A G 14: 113,552,292 (GRCm39) E62G probably benign Het
Trim54 G T 5: 31,291,424 (GRCm39) V182L probably damaging Het
Trmt6 A C 2: 132,651,778 (GRCm39) V214G probably damaging Het
Ttc21b T C 2: 66,057,134 (GRCm39) S613G probably benign Het
Ttll4 C A 1: 74,718,508 (GRCm39) R120S possibly damaging Het
Wdr41 A T 13: 95,154,682 (GRCm39) K354N probably damaging Het
Zfp652 A T 11: 95,640,230 (GRCm39) K52* probably null Het
Other mutations in Heatr4
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1070:Heatr4 UTSW 12 84,024,841 (GRCm39) missense possibly damaging 0.70
R1225:Heatr4 UTSW 12 84,024,820 (GRCm39) missense probably benign 0.01
R1398:Heatr4 UTSW 12 84,014,395 (GRCm39) missense possibly damaging 0.45
R1467:Heatr4 UTSW 12 84,024,841 (GRCm39) missense possibly damaging 0.70
R1467:Heatr4 UTSW 12 84,024,841 (GRCm39) missense possibly damaging 0.70
R1626:Heatr4 UTSW 12 84,020,495 (GRCm39) missense probably benign 0.00
R1728:Heatr4 UTSW 12 84,014,346 (GRCm39) missense probably benign 0.03
R1779:Heatr4 UTSW 12 84,026,934 (GRCm39) missense probably benign 0.30
R1784:Heatr4 UTSW 12 84,014,346 (GRCm39) missense probably benign 0.03
R1860:Heatr4 UTSW 12 84,026,502 (GRCm39) nonsense probably null
R1903:Heatr4 UTSW 12 84,005,221 (GRCm39) missense probably damaging 1.00
R1916:Heatr4 UTSW 12 84,002,591 (GRCm39) missense probably benign 0.21
R1972:Heatr4 UTSW 12 84,001,794 (GRCm39) missense probably damaging 1.00
R2008:Heatr4 UTSW 12 84,026,514 (GRCm39) missense probably benign 0.01
R2081:Heatr4 UTSW 12 84,027,096 (GRCm39) missense probably damaging 0.99
R2093:Heatr4 UTSW 12 84,021,855 (GRCm39) missense possibly damaging 0.63
R2399:Heatr4 UTSW 12 84,027,107 (GRCm39) missense probably benign 0.00
R2680:Heatr4 UTSW 12 84,027,237 (GRCm39) missense possibly damaging 0.91
R4618:Heatr4 UTSW 12 84,024,841 (GRCm39) missense probably damaging 1.00
R6400:Heatr4 UTSW 12 84,001,784 (GRCm39) missense probably null 1.00
R6527:Heatr4 UTSW 12 84,026,537 (GRCm39) missense probably damaging 1.00
R6616:Heatr4 UTSW 12 84,026,904 (GRCm39) missense probably benign
R7070:Heatr4 UTSW 12 84,016,632 (GRCm39) missense probably benign
R7219:Heatr4 UTSW 12 84,004,644 (GRCm39) missense possibly damaging 0.89
R7329:Heatr4 UTSW 12 84,024,856 (GRCm39) missense probably benign 0.00
R7477:Heatr4 UTSW 12 84,026,604 (GRCm39) missense probably damaging 0.97
R7570:Heatr4 UTSW 12 84,026,418 (GRCm39) missense probably benign 0.10
R7709:Heatr4 UTSW 12 84,004,499 (GRCm39) missense probably damaging 0.98
R8280:Heatr4 UTSW 12 84,016,670 (GRCm39) missense probably benign
R8423:Heatr4 UTSW 12 84,027,104 (GRCm39) missense probably benign 0.04
R8465:Heatr4 UTSW 12 84,024,707 (GRCm39) critical splice donor site probably null
R8515:Heatr4 UTSW 12 84,001,478 (GRCm39) missense probably damaging 1.00
R8694:Heatr4 UTSW 12 84,027,038 (GRCm39) missense probably damaging 1.00
R8947:Heatr4 UTSW 12 84,001,431 (GRCm39) missense probably benign
R9585:Heatr4 UTSW 12 84,014,472 (GRCm39) missense probably damaging 0.99
R9717:Heatr4 UTSW 12 84,024,829 (GRCm39) missense probably damaging 1.00
Z1177:Heatr4 UTSW 12 84,027,252 (GRCm39) missense probably benign 0.02
Predicted Primers PCR Primer
(F):5'- AAGAAGCCTATGGGGAGTCC -3'
(R):5'- AGAAACCCTGGAGCTGTCAG -3'

Sequencing Primer
(F):5'- GACTTTGCCAGGCCTGCTTAAG -3'
(R):5'- TGGAGCTGTCAGCCTCTC -3'
Posted On 2018-10-18