Incidental Mutation 'R5779:D11Wsu47e'
ID446887
Institutional Source Beutler Lab
Gene Symbol D11Wsu47e
Ensembl Gene ENSMUSG00000041623
Gene NameDNA segment, Chr 11, Wayne State University 47, expressed
Synonyms
MMRRC Submission 043377-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.061) question?
Stock #R5779 (G1)
Quality Score225
Status Validated
Chromosome11
Chromosomal Location113684412-113694647 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 113687992 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 71 (D71G)
Ref Sequence ENSEMBL: ENSMUSP00000116817 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042227] [ENSMUST00000106621] [ENSMUST00000120194] [ENSMUST00000123466] [ENSMUST00000153732]
Predicted Effect probably benign
Transcript: ENSMUST00000042227
AA Change: D71G

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000042025
Gene: ENSMUSG00000041623
AA Change: D71G

DomainStartEndE-ValueType
low complexity region 273 283 N/A INTRINSIC
low complexity region 491 510 N/A INTRINSIC
transmembrane domain 529 548 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000106621
AA Change: D71G

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000102232
Gene: ENSMUSG00000041623
AA Change: D71G

DomainStartEndE-ValueType
low complexity region 273 283 N/A INTRINSIC
low complexity region 491 510 N/A INTRINSIC
transmembrane domain 529 548 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000120194
SMART Domains Protein: ENSMUSP00000113652
Gene: ENSMUSG00000041629

DomainStartEndE-ValueType
low complexity region 2 16 N/A INTRINSIC
low complexity region 22 48 N/A INTRINSIC
low complexity region 52 71 N/A INTRINSIC
Pfam:FAM104 75 185 3.1e-58 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000123466
AA Change: D71G

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
Predicted Effect probably benign
Transcript: ENSMUST00000153732
AA Change: D71G

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
Meta Mutation Damage Score 0.1304 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency 88% (52/59)
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700061G19Rik A T 17: 56,881,061 N190Y probably benign Het
2310035C23Rik T G 1: 105,687,347 N246K probably damaging Het
Abca6 T C 11: 110,184,670 M1332V probably benign Het
Afg3l2 T C 18: 67,440,443 K132R probably null Het
Arap3 T C 18: 37,984,365 D886G probably damaging Het
B3gntl1 G T 11: 121,651,676 probably null Het
Cdk12 T A 11: 98,219,074 S640R probably benign Het
Ceacam12 C A 7: 18,069,154 P162T probably benign Het
Chrna5 C A 9: 54,998,104 H67N probably benign Het
Copb1 T A 7: 114,219,572 D837V probably damaging Het
Dcaf5 C T 12: 80,338,832 R840H probably benign Het
Ect2l T A 10: 18,163,438 Q324L probably benign Het
Eef1e1 T C 13: 38,646,273 N141S probably damaging Het
Eif2ak4 A C 2: 118,412,963 N208T possibly damaging Het
Ext1 A G 15: 53,344,553 Y271H probably damaging Het
Fam173a A G 17: 25,790,657 V194A probably benign Het
Fbxo5 G A 10: 5,800,303 R323C possibly damaging Het
Fpr-rs3 C A 17: 20,624,226 A218S possibly damaging Het
Gm20499 G A 5: 114,817,021 probably benign Het
Gucy1b2 C A 14: 62,414,301 L400F possibly damaging Het
Hgd T A 16: 37,593,371 L24H probably benign Het
Hmx3 C A 7: 131,544,328 S255* probably null Het
Ifrd1 A T 12: 40,203,370 F448I probably damaging Het
Igfn1 T A 1: 135,966,840 E1996V probably benign Het
Itpr1 G A 6: 108,352,143 G173R probably damaging Het
Kbtbd8 T C 6: 95,118,534 S26P probably benign Het
Kctd17 A T 15: 78,437,133 probably benign Het
Matr3 T C 18: 35,584,522 S258P possibly damaging Het
Mpp4 G A 1: 59,151,666 A90V probably benign Het
Mrpl20 G A 4: 155,806,921 R34Q probably damaging Het
Neb A T 2: 52,245,301 S3266T probably damaging Het
Nipal3 A G 4: 135,452,339 probably benign Het
Npas2 A T 1: 39,287,571 T46S possibly damaging Het
Nsd3 G T 8: 25,682,669 E815* probably null Het
Nup98 C A 7: 102,152,361 V786L probably benign Het
Olfr730 A T 14: 50,186,746 M157K possibly damaging Het
Pcdhb3 T C 18: 37,301,467 V162A probably benign Het
Pcgf2 G A 11: 97,690,291 P58L probably damaging Het
Penk A G 4: 4,134,318 F110L probably damaging Het
Scfd1 A G 12: 51,431,529 N508S probably benign Het
Scn2a T C 2: 65,764,483 V1892A probably benign Het
Sema6a G A 18: 47,248,826 R885C probably damaging Het
Sik2 T C 9: 50,895,845 H755R probably benign Het
Slc36a3 A T 11: 55,135,268 Y241* probably null Het
Smg5 T C 3: 88,351,618 probably benign Het
Spag9 A G 11: 94,114,253 T1049A probably benign Het
Tas2r103 T C 6: 133,036,945 M53V probably benign Het
Tpr C T 1: 150,423,541 A1090V probably damaging Het
Traf5 T A 1: 191,997,672 R473W probably damaging Het
Ush2a T C 1: 188,443,510 probably null Het
Vit A G 17: 78,546,426 T34A probably benign Het
Other mutations in D11Wsu47e
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01097:D11Wsu47e APN 11 113692470 missense probably benign 0.19
IGL01701:D11Wsu47e APN 11 113689101 missense probably benign 0.27
R0483:D11Wsu47e UTSW 11 113689195 missense possibly damaging 0.92
R0601:D11Wsu47e UTSW 11 113687886 missense probably benign 0.38
R1567:D11Wsu47e UTSW 11 113687902 missense probably damaging 0.99
R4834:D11Wsu47e UTSW 11 113688979 missense probably benign 0.03
R4923:D11Wsu47e UTSW 11 113688979 missense probably benign 0.03
R5194:D11Wsu47e UTSW 11 113688828 missense possibly damaging 0.83
R5815:D11Wsu47e UTSW 11 113687957 unclassified probably null
R6174:D11Wsu47e UTSW 11 113688975 missense possibly damaging 0.46
R6566:D11Wsu47e UTSW 11 113687998 missense probably damaging 0.96
R6837:D11Wsu47e UTSW 11 113688613 missense possibly damaging 0.90
R6974:D11Wsu47e UTSW 11 113687992 missense probably benign 0.02
Predicted Primers PCR Primer
(F):5'- GAAGTGTGTCCTTATTGTAAGAAGC -3'
(R):5'- ATCTGACGCAGGAGACCAAG -3'

Sequencing Primer
(F):5'- GCCGTTTAAGCGTTTAAAATCCCAC -3'
(R):5'- CCAAGGGGTTGTGACTCTC -3'
Posted On2016-12-15