Incidental Mutation 'IGL01318:Milr1'
ID73944
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Milr1
Ensembl Gene ENSMUSG00000040528
Gene Namemast cell immunoglobulin like receptor 1
SynonymsGm885, Allergin-1, LOC380732
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01318
Quality Score
Status
Chromosome11
Chromosomal Location106751226-106768794 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 106765245 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Threonine at position 114 (A114T)
Ref Sequence ENSEMBL: ENSMUSP00000138386 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021060] [ENSMUST00000086353] [ENSMUST00000106794] [ENSMUST00000127061] [ENSMUST00000147326] [ENSMUST00000155107] [ENSMUST00000182023] [ENSMUST00000182479] [ENSMUST00000182896] [ENSMUST00000182908] [ENSMUST00000183111]
Predicted Effect probably benign
Transcript: ENSMUST00000021060
SMART Domains Protein: ENSMUSP00000021060
Gene: ENSMUSG00000020718

DomainStartEndE-ValueType
low complexity region 2 16 N/A INTRINSIC
SCOP:d1g5ha2 41 330 4e-36 SMART
Pfam:HGTP_anticodon 354 452 3e-13 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000086353
AA Change: A217T

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000083538
Gene: ENSMUSG00000040528
AA Change: A217T

DomainStartEndE-ValueType
signal peptide 1 39 N/A INTRINSIC
IG 58 139 3.74e-3 SMART
transmembrane domain 151 173 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000106794
AA Change: A216T

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000102406
Gene: ENSMUSG00000040528
AA Change: A216T

DomainStartEndE-ValueType
signal peptide 1 33 N/A INTRINSIC
IG 58 139 1.5e-5 SMART
transmembrane domain 151 173 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000127061
SMART Domains Protein: ENSMUSP00000117441
Gene: ENSMUSG00000020718

DomainStartEndE-ValueType
low complexity region 2 16 N/A INTRINSIC
PDB:1G5I|D 17 170 1e-100 PDB
SCOP:d1g5ha2 41 163 1e-7 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000147326
AA Change: A217T

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000138742
Gene: ENSMUSG00000040528
AA Change: A217T

DomainStartEndE-ValueType
signal peptide 1 39 N/A INTRINSIC
IG 58 139 3.74e-3 SMART
transmembrane domain 151 173 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000155107
SMART Domains Protein: ENSMUSP00000118975
Gene: ENSMUSG00000020718

DomainStartEndE-ValueType
low complexity region 2 16 N/A INTRINSIC
PDB:1G5I|D 17 122 3e-69 PDB
SCOP:d1g5ha2 41 120 3e-6 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000157775
Predicted Effect probably benign
Transcript: ENSMUST00000182023
SMART Domains Protein: ENSMUSP00000138286
Gene: ENSMUSG00000040528

DomainStartEndE-ValueType
signal peptide 1 39 N/A INTRINSIC
IG 58 139 3.74e-3 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000182479
AA Change: A114T

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000138386
Gene: ENSMUSG00000040528
AA Change: A114T

DomainStartEndE-ValueType
Blast:IG 1 36 3e-19 BLAST
transmembrane domain 48 70 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000182896
AA Change: M214I
SMART Domains Protein: ENSMUSP00000138617
Gene: ENSMUSG00000040528
AA Change: M214I

DomainStartEndE-ValueType
signal peptide 1 39 N/A INTRINSIC
IG 58 139 3.74e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000182908
AA Change: A179T

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000138678
Gene: ENSMUSG00000040528
AA Change: A179T

DomainStartEndE-ValueType
signal peptide 1 39 N/A INTRINSIC
IG 58 139 3.74e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000183111
AA Change: A179T

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000138513
Gene: ENSMUSG00000040528
AA Change: A179T

DomainStartEndE-ValueType
signal peptide 1 39 N/A INTRINSIC
IG 58 139 3.74e-3 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a null allele have decreased mast cell degranulation and an increased susceptibility to type I hypersensitivity reaction. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930550L24Rik T A X: 58,919,469 I196N probably damaging Het
Alg10b T C 15: 90,228,389 probably benign Het
Ambn T C 5: 88,460,695 probably benign Het
Asap2 A G 12: 21,247,295 D585G probably null Het
Chaf1a G T 17: 56,059,336 probably benign Het
Ddhd1 A G 14: 45,616,551 S443P probably damaging Het
Dlk2 A G 17: 46,302,464 E215G probably damaging Het
Efhd2 T C 4: 141,859,865 N202S probably benign Het
Fam208b A C 13: 3,575,067 S946A possibly damaging Het
Gkap1 A T 13: 58,237,039 I308K probably damaging Het
Gm14025 C A 2: 129,038,702 V435L probably benign Het
Gm9848 T A 13: 113,108,240 noncoding transcript Het
Hmcn1 G A 1: 150,719,240 T1826I probably damaging Het
Htr5a T C 5: 27,842,744 V99A probably benign Het
Inha T G 1: 75,509,928 F289C probably damaging Het
Kcna3 T C 3: 107,037,978 V519A probably benign Het
Kcnma1 A T 14: 23,314,322 probably benign Het
Kctd1 A G 18: 15,062,690 V292A possibly damaging Het
Map2k4 A G 11: 65,756,263 probably benign Het
Mfap2 G T 4: 141,015,545 A175S possibly damaging Het
Mogs G T 6: 83,118,577 V792F probably damaging Het
Nt5dc3 T A 10: 86,825,225 M418K possibly damaging Het
Olfr1098 A T 2: 86,922,949 N194K probably benign Het
Olfr1448 A G 19: 12,920,126 L61P probably damaging Het
Olfr77 A G 9: 19,920,758 E183G probably benign Het
Osbpl10 G A 9: 115,232,122 W756* probably null Het
Pgam5 A G 5: 110,265,525 Y235H probably damaging Het
Pgm5 G T 19: 24,816,478 A274E probably damaging Het
Prex1 C A 2: 166,569,340 probably benign Het
Prps1l1 A T 12: 34,985,378 N164I probably benign Het
Ralbp1 C A 17: 65,864,282 R232L probably damaging Het
Rnaseh2a C T 8: 84,965,123 probably benign Het
Stard9 A T 2: 120,698,719 H1819L possibly damaging Het
Stom T A 2: 35,336,877 I15F probably benign Het
Tph1 T G 7: 46,665,238 T22P probably damaging Het
Uqcrfs1 A G 13: 30,540,921 I212T probably benign Het
Ush2a T C 1: 188,814,353 I3442T probably benign Het
Vmn2r113 A G 17: 22,958,335 I698V probably benign Het
Vmn2r75 T C 7: 86,165,566 I240V probably benign Het
Wdr17 T C 8: 54,672,550 T432A probably damaging Het
Other mutations in Milr1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02396:Milr1 APN 11 106765239 nonsense probably null
IGL02525:Milr1 APN 11 106765275 missense probably benign 0.01
IGL02620:Milr1 APN 11 106754918 missense probably damaging 0.96
R0010:Milr1 UTSW 11 106767003 makesense probably null
R0240:Milr1 UTSW 11 106754896 nonsense probably null
R0240:Milr1 UTSW 11 106754896 nonsense probably null
R1087:Milr1 UTSW 11 106755022 missense probably damaging 1.00
R4349:Milr1 UTSW 11 106763882 missense possibly damaging 0.91
R5023:Milr1 UTSW 11 106766965 missense possibly damaging 0.90
R5057:Milr1 UTSW 11 106766965 missense possibly damaging 0.90
R5169:Milr1 UTSW 11 106754928 nonsense probably null
R5181:Milr1 UTSW 11 106754980 missense probably damaging 1.00
R6649:Milr1 UTSW 11 106757711 missense probably benign 0.01
R6868:Milr1 UTSW 11 106763921 missense probably damaging 1.00
R7008:Milr1 UTSW 11 106751314 missense probably damaging 0.99
Posted On2013-10-07