Incidental Mutation 'IGL02681:Il11ra1'
ID303356
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Il11ra1
Ensembl Gene ENSMUSG00000073889
Gene Nameinterleukin 11 receptor, alpha chain 1
SynonymsIl11ra, Il-11ra, NR1, Il-11ra-alpha
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.769) question?
Stock #IGL02681
Quality Score
Status
Chromosome4
Chromosomal Location41699989-41769474 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 41768552 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Lysine at position 412 (M412K)
Ref Sequence ENSEMBL: ENSMUSP00000103677 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074387] [ENSMUST00000098132] [ENSMUST00000108032] [ENSMUST00000108033] [ENSMUST00000108035] [ENSMUST00000108036] [ENSMUST00000108037] [ENSMUST00000108040] [ENSMUST00000108041] [ENSMUST00000108042] [ENSMUST00000131349] [ENSMUST00000151142] [ENSMUST00000155240] [ENSMUST00000155322] [ENSMUST00000173865]
Predicted Effect probably benign
Transcript: ENSMUST00000074387
SMART Domains Protein: ENSMUSP00000073990
Gene: ENSMUSG00000073888

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
SCY 31 97 5.12e-3 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000098132
AA Change: M412K

PolyPhen 2 Score 0.725 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000095736
Gene: ENSMUSG00000073889
AA Change: M412K

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
IG 33 108 5.75e-4 SMART
FN3 112 204 2.18e-2 SMART
FN3 218 304 4.93e-1 SMART
low complexity region 354 365 N/A INTRINSIC
transmembrane domain 369 391 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000108032
Predicted Effect probably benign
Transcript: ENSMUST00000108033
SMART Domains Protein: ENSMUSP00000103668
Gene: ENSMUSG00000073888

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
SCY 30 96 5.12e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000108035
SMART Domains Protein: ENSMUSP00000103670
Gene: ENSMUSG00000073888

DomainStartEndE-ValueType
SCY 38 104 5.12e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000108036
SMART Domains Protein: ENSMUSP00000103671
Gene: ENSMUSG00000073888

DomainStartEndE-ValueType
SCY 75 141 5.12e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000108037
SMART Domains Protein: ENSMUSP00000103672
Gene: ENSMUSG00000073888

DomainStartEndE-ValueType
SCY 75 141 5.12e-3 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000108040
AA Change: M412K

PolyPhen 2 Score 0.725 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000103675
Gene: ENSMUSG00000073889
AA Change: M412K

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
IG 33 108 5.75e-4 SMART
FN3 112 204 2.18e-2 SMART
FN3 218 304 4.93e-1 SMART
low complexity region 354 365 N/A INTRINSIC
transmembrane domain 369 391 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000108041
AA Change: M412K

PolyPhen 2 Score 0.725 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000103676
Gene: ENSMUSG00000073889
AA Change: M412K

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
IG 33 108 5.75e-4 SMART
FN3 112 204 2.18e-2 SMART
FN3 218 304 4.93e-1 SMART
low complexity region 354 365 N/A INTRINSIC
transmembrane domain 369 391 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000108042
AA Change: M412K

PolyPhen 2 Score 0.725 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000103677
Gene: ENSMUSG00000073889
AA Change: M412K

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
IG 33 108 5.75e-4 SMART
FN3 112 204 2.18e-2 SMART
FN3 218 304 4.93e-1 SMART
low complexity region 354 365 N/A INTRINSIC
transmembrane domain 369 391 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126759
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130197
Predicted Effect probably benign
Transcript: ENSMUST00000131349
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133556
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133572
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136768
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138337
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140894
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142059
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143676
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144090
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145445
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146608
Predicted Effect probably benign
Transcript: ENSMUST00000151142
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151909
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152748
Predicted Effect probably benign
Transcript: ENSMUST00000155240
Predicted Effect probably benign
Transcript: ENSMUST00000155322
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155538
Predicted Effect probably benign
Transcript: ENSMUST00000173865
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Female homozygotes for targeted null mutations are infertile due to defective decidua formation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bcar3 C T 3: 122,512,768 probably null Het
Cyp3a59 T C 5: 146,090,746 probably benign Het
Dnah2 G A 11: 69,452,933 T2844M probably benign Het
Ehbp1l1 T C 19: 5,720,825 I241M probably damaging Het
Fam129b A G 2: 32,911,390 Y122C probably benign Het
Fancl G A 11: 26,468,722 probably null Het
Filip1l A G 16: 57,571,779 Q910R probably benign Het
Fn1 A T 1: 71,619,482 V1139E probably damaging Het
Gm4787 A G 12: 81,378,769 V205A possibly damaging Het
Gpr158 T A 2: 21,815,630 L646Q probably damaging Het
Ifna1 A G 4: 88,850,286 D67G probably benign Het
Klra10 T A 6: 130,279,419 M91L probably damaging Het
Krba1 T A 6: 48,404,118 D129E probably damaging Het
Mat1a T C 14: 41,122,496 probably benign Het
Med24 T A 11: 98,709,739 K627* probably null Het
Mpl A T 4: 118,448,871 probably benign Het
Mynn T A 3: 30,616,642 D554E probably benign Het
Olfr382 T C 11: 73,516,530 Y223C probably benign Het
Prkcd T C 14: 30,601,233 probably null Het
Prrc2c T C 1: 162,705,612 probably benign Het
Scp2d1 T C 2: 144,823,884 F48L probably benign Het
Slc12a2 A G 18: 57,879,399 H198R probably benign Het
Sulf2 A G 2: 166,116,985 V101A probably benign Het
Synj2 T A 17: 5,990,336 V144E probably damaging Het
Tas2r113 T G 6: 132,893,367 F119L probably damaging Het
Tspan17 A G 13: 54,789,629 E12G probably damaging Het
Other mutations in Il11ra1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0013:Il11ra1 UTSW 4 41765060 missense probably damaging 1.00
R0032:Il11ra1 UTSW 4 41768187 missense probably damaging 1.00
R0032:Il11ra1 UTSW 4 41768187 missense probably damaging 1.00
R0365:Il11ra1 UTSW 4 41767527 missense probably damaging 1.00
R0399:Il11ra1 UTSW 4 41766185 missense probably benign 0.03
R1585:Il11ra1 UTSW 4 41768207 missense probably damaging 0.98
R1591:Il11ra1 UTSW 4 41766200 missense probably damaging 1.00
R2424:Il11ra1 UTSW 4 41768222 missense probably damaging 1.00
R3037:Il11ra1 UTSW 4 41765074 missense possibly damaging 0.94
R4393:Il11ra1 UTSW 4 41768577 critical splice donor site probably null
R4770:Il11ra1 UTSW 4 41768187 missense probably damaging 1.00
R4798:Il11ra1 UTSW 4 41766096 unclassified probably benign
R5256:Il11ra1 UTSW 4 41767932 unclassified probably benign
R6005:Il11ra1 UTSW 4 41763887 critical splice donor site probably null
R6309:Il11ra1 UTSW 4 41765279 missense possibly damaging 0.87
R6499:Il11ra1 UTSW 4 41765412 missense probably benign 0.04
R6833:Il11ra1 UTSW 4 41765454 missense probably benign 0.00
R6834:Il11ra1 UTSW 4 41765454 missense probably benign 0.00
R7015:Il11ra1 UTSW 4 41765421 missense probably benign 0.06
R7122:Il11ra1 UTSW 4 41766189 missense probably damaging 0.99
R7275:Il11ra1 UTSW 4 41765109 missense probably damaging 1.00
Posted On2015-04-16