Incidental Mutation 'R3623:D17H6S53E'
ID 268756
Institutional Source Beutler Lab
Gene Symbol D17H6S53E
Ensembl Gene ENSMUSG00000043311
Gene Name DNA segment, Chr 17, human D6S53E
Synonyms NG34
Accession Numbers
Essential gene? Probably non essential (E-score: 0.064) question?
Stock # R3623 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 35345378-35347831 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 35346512 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 141 (E141G)
Ref Sequence ENSEMBL: ENSMUSP00000061264 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025249] [ENSMUST00000052167] [ENSMUST00000061859] [ENSMUST00000165306] [ENSMUST00000173043] [ENSMUST00000173380]
AlphaFold Q9Z1R4
Predicted Effect probably benign
Transcript: ENSMUST00000025249
SMART Domains Protein: ENSMUSP00000025249
Gene: ENSMUSG00000024391

DomainStartEndE-ValueType
Pfam:ApoM 1 189 9.2e-99 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000052167
SMART Domains Protein: ENSMUSP00000056646
Gene: ENSMUSG00000092417

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
low complexity region 82 99 N/A INTRINSIC
ANK 156 186 4.36e-1 SMART
G_patch 269 315 1.45e-14 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000061859
AA Change: E141G

PolyPhen 2 Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000061264
Gene: ENSMUSG00000043311
AA Change: E141G

DomainStartEndE-ValueType
Pfam:DUF4661 16 264 8.3e-141 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000165306
SMART Domains Protein: ENSMUSP00000133240
Gene: ENSMUSG00000092417

DomainStartEndE-ValueType
low complexity region 59 76 N/A INTRINSIC
ANK 133 163 4.36e-1 SMART
G_patch 246 292 1.45e-14 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000173043
SMART Domains Protein: ENSMUSP00000135684
Gene: ENSMUSG00000092417

DomainStartEndE-ValueType
low complexity region 59 76 N/A INTRINSIC
ANK 133 163 2.7e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000173380
SMART Domains Protein: ENSMUSP00000134694
Gene: ENSMUSG00000092417

DomainStartEndE-ValueType
low complexity region 59 76 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000173873
AA Change: E141G

PolyPhen 2 Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000133854
Gene: ENSMUSG00000043311
AA Change: E141G

DomainStartEndE-ValueType
Pfam:DUF4661 16 264 3.5e-141 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174311
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173576
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.6%
Validation Efficiency 100% (69/69)
Allele List at MGI
Other mutations in this stock
Total: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy1 A G 11: 7,080,348 (GRCm39) T364A probably benign Het
Adpgk G A 9: 59,221,036 (GRCm39) V281I probably benign Het
Akap9 C A 5: 4,026,235 (GRCm39) Q1297K possibly damaging Het
Ankrd13d T C 19: 4,331,968 (GRCm39) E110G probably damaging Het
Ankrd53 A G 6: 83,740,244 (GRCm39) E104G possibly damaging Het
Becn2 T C 1: 175,748,197 (GRCm39) C88R possibly damaging Het
Bscl2 T A 19: 8,818,514 (GRCm39) C40S probably benign Het
Btaf1 A G 19: 36,958,486 (GRCm39) T668A probably benign Het
Camk2g G A 14: 20,805,775 (GRCm39) probably benign Het
Cd109 A T 9: 78,574,639 (GRCm39) D541V probably damaging Het
Cep135 G A 5: 76,772,586 (GRCm39) G657D probably benign Het
Coch A G 12: 51,649,609 (GRCm39) I307V probably benign Het
Ddias T C 7: 92,508,800 (GRCm39) T372A probably benign Het
Dffb T C 4: 154,049,976 (GRCm39) T296A probably damaging Het
Dock8 A G 19: 25,057,241 (GRCm39) Q216R probably benign Het
Ep400 T C 5: 110,867,102 (GRCm39) Y1014C unknown Het
Ephx1 A G 1: 180,817,498 (GRCm39) I391T probably benign Het
Fcgbp A G 7: 27,800,701 (GRCm39) Y1249C probably damaging Het
Gm5592 T C 7: 40,807,052 (GRCm39) probably benign Het
Gm7964 A G 7: 83,405,629 (GRCm39) N149S probably benign Het
Greb1l T A 18: 10,542,380 (GRCm39) I1325N probably damaging Het
H2-T3 T C 17: 36,500,957 (GRCm39) T20A possibly damaging Het
Htr1d T C 4: 136,170,815 (GRCm39) I348T probably damaging Het
Hyal4 A T 6: 24,765,737 (GRCm39) S364C probably damaging Het
Igkv1-133 A T 6: 67,701,944 (GRCm39) Q16L probably benign Het
Irs2 C T 8: 11,057,643 (GRCm39) G263D probably damaging Het
Itga10 C T 3: 96,559,054 (GRCm39) probably benign Het
Kmt2a A G 9: 44,760,263 (GRCm39) Y529H probably damaging Het
Mdfic T A 6: 15,770,319 (GRCm39) N108K probably damaging Het
Met A T 6: 17,549,085 (GRCm39) D979V probably damaging Het
Mettl21e T A 1: 44,245,857 (GRCm39) I130F probably damaging Het
Mlh3 C T 12: 85,315,169 (GRCm39) C339Y probably damaging Het
Mog T C 17: 37,323,338 (GRCm39) H200R possibly damaging Het
Msrb3 C T 10: 120,620,103 (GRCm39) R72H probably damaging Het
Mtmr11 A G 3: 96,072,583 (GRCm39) H324R probably damaging Het
Myh7 T C 14: 55,210,838 (GRCm39) E1693G probably damaging Het
Nadk2 T A 15: 9,084,303 (GRCm39) W139R probably damaging Het
Ndufa9 A T 6: 126,821,362 (GRCm39) M76K possibly damaging Het
Nr1i2 A G 16: 38,086,269 (GRCm39) probably benign Het
Nsd3 A G 8: 26,152,835 (GRCm39) T392A probably damaging Het
Or14a259 A G 7: 86,013,308 (GRCm39) F79S probably benign Het
Or52d3 T C 7: 104,229,149 (GRCm39) S99P probably damaging Het
P2ry2 A T 7: 100,647,706 (GRCm39) S200T probably benign Het
Pcnt T A 10: 76,269,584 (GRCm39) E228V probably benign Het
Phka2 T A X: 159,327,291 (GRCm39) Y334* probably null Het
Pkhd1l1 A T 15: 44,390,265 (GRCm39) K1460N probably damaging Het
Rpl7a-ps3 G A 15: 36,308,429 (GRCm39) noncoding transcript Het
Rspry1 A G 8: 95,376,405 (GRCm39) D309G probably damaging Het
Scap A G 9: 110,209,271 (GRCm39) Y648C probably damaging Het
Sgcz T C 8: 38,420,201 (GRCm39) E17G probably damaging Het
Slc17a5 A T 9: 78,445,556 (GRCm39) V433D probably damaging Het
Smad9 C T 3: 54,696,705 (GRCm39) R257W probably damaging Het
Srcap T C 7: 127,141,319 (GRCm39) S1639P probably damaging Het
Strn3 T C 12: 51,707,999 (GRCm39) Y132C possibly damaging Het
Tas2r110 A T 6: 132,845,433 (GRCm39) M155L probably benign Het
Tasor2 T C 13: 3,645,556 (GRCm39) T98A probably benign Het
Thbd A G 2: 148,248,893 (GRCm39) V325A probably damaging Het
Trpd52l3 T A 19: 29,981,333 (GRCm39) C29* probably null Het
Trpm1 A G 7: 63,894,601 (GRCm39) Y951C probably damaging Het
Ube3a T A 7: 58,921,860 (GRCm39) N77K probably damaging Het
Upp2 G A 2: 58,680,128 (GRCm39) R300Q possibly damaging Het
Usp35 T C 7: 96,961,827 (GRCm39) H533R probably damaging Het
Veph1 C T 3: 66,122,858 (GRCm39) V224I probably benign Het
Vmn1r30 A T 6: 58,412,437 (GRCm39) F132I probably benign Het
Vmn2r24 A G 6: 123,792,997 (GRCm39) R775G probably damaging Het
Vps13c T A 9: 67,883,189 (GRCm39) probably null Het
Vps37c T A 19: 10,683,569 (GRCm39) probably null Het
Zap70 C T 1: 36,818,216 (GRCm39) T301I probably benign Het
Zfp341 A G 2: 154,466,801 (GRCm39) K57E probably damaging Het
Zfp60 T A 7: 27,448,753 (GRCm39) F474I probably benign Het
Zfp786 T C 6: 47,798,357 (GRCm39) N194D probably benign Het
Other mutations in D17H6S53E
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01065:D17H6S53E APN 17 35,346,259 (GRCm39) nonsense probably null 0.00
R0833:D17H6S53E UTSW 17 35,346,385 (GRCm39) splice site probably null
R0836:D17H6S53E UTSW 17 35,346,385 (GRCm39) splice site probably null
R1690:D17H6S53E UTSW 17 35,346,188 (GRCm39) missense possibly damaging 0.95
R3624:D17H6S53E UTSW 17 35,346,512 (GRCm39) missense probably benign 0.03
R4032:D17H6S53E UTSW 17 35,346,355 (GRCm39) missense probably benign 0.06
R6919:D17H6S53E UTSW 17 35,346,222 (GRCm39) missense probably damaging 1.00
R8467:D17H6S53E UTSW 17 35,346,246 (GRCm39) missense probably damaging 1.00
R9242:D17H6S53E UTSW 17 35,346,536 (GRCm39) missense possibly damaging 0.95
R9532:D17H6S53E UTSW 17 35,346,145 (GRCm39) missense possibly damaging 0.50
Predicted Primers PCR Primer
(F):5'- GACCTCAAAGTGGATCAACTGG -3'
(R):5'- GCCCAAAGCATCCAAGATGG -3'

Sequencing Primer
(F):5'- GGGAGCAAAAGAATGGATTCCCTC -3'
(R):5'- CATCCAAGATGGCTCGGAGTG -3'
Posted On 2015-02-19