Incidental Mutation 'R6527:Heatr4'
ID522014
Institutional Source Beutler Lab
Gene Symbol Heatr4
Ensembl Gene ENSMUSG00000090843
Gene NameHEAT repeat containing 4
SynonymsGm17673
MMRRC Submission
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.081) question?
Stock #R6527 (G1)
Quality Score225.009
Status Not validated
Chromosome12
Chromosomal Location83954499-83984852 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 83979763 bp
ZygosityHeterozygous
Amino Acid Change Glycine to Glutamic Acid at position 240 (G240E)
Ref Sequence ENSEMBL: ENSMUSP00000129832 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000164935]
Predicted Effect probably damaging
Transcript: ENSMUST00000164935
AA Change: G240E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000129832
Gene: ENSMUSG00000090843
AA Change: G240E

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: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 93.7%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik A G 3: 138,067,527 T826A probably damaging Het
Abca16 T A 7: 120,477,772 I686N possibly damaging Het
Abcb6 T C 1: 75,177,488 probably null Het
Adgrl3 A C 5: 81,787,517 E1299A probably damaging Het
Als2cr12 T C 1: 58,692,413 M1V probably null Het
Amd2 A C 10: 35,710,806 Y252D probably damaging Het
Cfap74 A G 4: 155,422,265 probably null Het
Dhx29 G T 13: 112,932,542 K135N probably damaging Het
Dlg5 T A 14: 24,190,448 D245V possibly damaging Het
Dscaml1 C T 9: 45,712,184 Q83* probably null Het
Dsp T A 13: 38,195,873 L1599Q probably damaging Het
Duox2 A G 2: 122,294,614 V369A probably benign Het
Gbe1 T A 16: 70,433,672 probably null Het
Gm7298 A G 6: 121,769,710 K600R probably benign Het
Jakmip2 A G 18: 43,556,524 V651A possibly damaging Het
Jam3 C T 9: 27,155,344 R8Q unknown Het
Letm2 A G 8: 25,592,506 probably benign Het
Lmod3 T C 6: 97,247,378 D494G probably benign Het
Mast2 T C 4: 116,314,939 D604G probably damaging Het
Mif4gd C T 11: 115,609,275 probably null Het
Msr1 T C 8: 39,624,233 E112G possibly damaging Het
Mtus2 A G 5: 148,277,598 probably null Het
Muc4 A G 16: 32,753,433 H1103R probably benign Het
Nudt14 T A 12: 112,934,887 I198F possibly damaging Het
Olfr1341 T A 4: 118,709,848 F147Y possibly damaging Het
Olfr353 T C 2: 36,890,582 T89A probably benign Het
Olfr736 T A 14: 50,393,428 L224* probably null Het
Osbpl8 T C 10: 111,293,205 I884T probably benign Het
Podxl2 T C 6: 88,842,930 N550S probably damaging Het
Ppp1r9a A G 6: 5,045,949 Y151C probably damaging Het
Prss42 T C 9: 110,800,856 V226A possibly damaging Het
Psmd12 A G 11: 107,488,968 I116V probably damaging Het
Psme4 A C 11: 30,832,175 I872L probably benign Het
Rab11fip1 A T 8: 27,174,392 V65E probably damaging Het
Ros1 T C 10: 52,143,377 N700S possibly damaging Het
Slc15a4 G A 5: 127,596,709 T547M probably damaging Het
Slfn3 T A 11: 83,213,106 C268S probably benign Het
Smc5 T C 19: 23,228,190 Q794R probably benign Het
Sqor A G 2: 122,809,286 Y434C probably damaging Het
Steap4 T A 5: 7,978,502 L360H probably damaging Het
Sycp1 A G 3: 102,898,887 V496A probably benign Het
Tmem161b T G 13: 84,272,264 M128R probably benign Het
Tmem59l T C 8: 70,486,125 E102G probably damaging Het
Tnks A T 8: 34,873,093 V457D probably benign Het
Tomt A G 7: 101,900,392 Y230H probably damaging Het
Trim37 A G 11: 87,190,084 N561D probably damaging Het
V1ra8 T A 6: 90,203,313 I166K probably damaging Het
Vmn1r56 A G 7: 5,196,576 V14A probably benign Het
Vsig8 T C 1: 172,560,358 V5A possibly damaging Het
Vwa8 A T 14: 78,947,213 S384C possibly damaging Het
Wwc1 C T 11: 35,853,437 E853K probably benign Het
Zfp984 T C 4: 147,755,924 N157D probably benign Het
Zzef1 G A 11: 72,874,990 D1448N probably benign Het
Other mutations in Heatr4
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1070:Heatr4 UTSW 12 83978067 missense possibly damaging 0.70
R1225:Heatr4 UTSW 12 83978046 missense probably benign 0.01
R1398:Heatr4 UTSW 12 83967621 missense possibly damaging 0.45
R1467:Heatr4 UTSW 12 83978067 missense possibly damaging 0.70
R1467:Heatr4 UTSW 12 83978067 missense possibly damaging 0.70
R1626:Heatr4 UTSW 12 83973721 missense probably benign 0.00
R1728:Heatr4 UTSW 12 83967572 missense probably benign 0.03
R1779:Heatr4 UTSW 12 83980160 missense probably benign 0.30
R1784:Heatr4 UTSW 12 83967572 missense probably benign 0.03
R1860:Heatr4 UTSW 12 83979728 nonsense probably null
R1903:Heatr4 UTSW 12 83958447 missense probably damaging 1.00
R1916:Heatr4 UTSW 12 83955817 missense probably benign 0.21
R1972:Heatr4 UTSW 12 83955020 missense probably damaging 1.00
R2008:Heatr4 UTSW 12 83979740 missense probably benign 0.01
R2081:Heatr4 UTSW 12 83980322 missense probably damaging 0.99
R2093:Heatr4 UTSW 12 83975081 missense possibly damaging 0.63
R2399:Heatr4 UTSW 12 83980333 missense probably benign 0.00
R2680:Heatr4 UTSW 12 83980463 missense possibly damaging 0.91
R4618:Heatr4 UTSW 12 83978067 missense probably damaging 1.00
R6400:Heatr4 UTSW 12 83955010 missense probably null 1.00
R6616:Heatr4 UTSW 12 83980130 missense probably benign
R6815:Heatr4 UTSW 12 83979727 missense probably damaging 0.96
R7070:Heatr4 UTSW 12 83969858 missense probably benign
R7219:Heatr4 UTSW 12 83957870 missense possibly damaging 0.89
Predicted Primers PCR Primer
(F):5'- ACTTTGCCAGGCCTGCTTAAG -3'
(R):5'- ATTTCCTGGACAAAGCCGC -3'

Sequencing Primer
(F):5'- AGGCCAGCCTACCTGAAGTAG -3'
(R):5'- TGGACAAAGCCGCCATCAC -3'
Posted On2018-06-06