Incidental Mutation 'IGL02614:Lrrc47'
ID300586
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lrrc47
Ensembl Gene ENSMUSG00000029028
Gene Nameleucine rich repeat containing 47
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.153) question?
Stock #IGL02614
Quality Score
Status
Chromosome4
Chromosomal Location154011731-154021513 bp(+) (GRCm38)
Type of Mutationunclassified (1535 bp from exon)
DNA Base Change (assembly) T to C at 154018935 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000138710 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030894] [ENSMUST00000125533] [ENSMUST00000126119] [ENSMUST00000130175] [ENSMUST00000131325] [ENSMUST00000132541] [ENSMUST00000139569] [ENSMUST00000143047] [ENSMUST00000145527] [ENSMUST00000146054] [ENSMUST00000146426] [ENSMUST00000146543] [ENSMUST00000169622] [ENSMUST00000182151] [ENSMUST00000182191]
Predicted Effect probably damaging
Transcript: ENSMUST00000030894
AA Change: L438P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000030894
Gene: ENSMUSG00000029028
AA Change: L438P

DomainStartEndE-ValueType
low complexity region 1 7 N/A INTRINSIC
low complexity region 10 36 N/A INTRINSIC
low complexity region 43 54 N/A INTRINSIC
LRR_TYP 100 123 2.61e-4 SMART
LRR_TYP 130 153 2.12e-4 SMART
LRR 155 177 3.75e0 SMART
LRR 180 202 9.77e1 SMART
LRR_TYP 203 226 2.27e-4 SMART
low complexity region 261 272 N/A INTRINSIC
low complexity region 277 292 N/A INTRINSIC
B3_4 331 507 8.94e-8 SMART
Predicted Effect probably null
Transcript: ENSMUST00000125533
SMART Domains Protein: ENSMUSP00000138324
Gene: ENSMUSG00000078350

DomainStartEndE-ValueType
low complexity region 22 33 N/A INTRINSIC
transmembrane domain 53 75 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000126119
SMART Domains Protein: ENSMUSP00000138560
Gene: ENSMUSG00000078350

DomainStartEndE-ValueType
low complexity region 22 33 N/A INTRINSIC
transmembrane domain 53 75 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000130175
SMART Domains Protein: ENSMUSP00000138675
Gene: ENSMUSG00000078350

DomainStartEndE-ValueType
low complexity region 22 33 N/A INTRINSIC
transmembrane domain 53 75 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000131325
SMART Domains Protein: ENSMUSP00000138777
Gene: ENSMUSG00000078350

DomainStartEndE-ValueType
low complexity region 22 33 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000132541
SMART Domains Protein: ENSMUSP00000138471
Gene: ENSMUSG00000078350

DomainStartEndE-ValueType
low complexity region 22 33 N/A INTRINSIC
transmembrane domain 53 75 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000139569
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142794
Predicted Effect probably null
Transcript: ENSMUST00000143047
SMART Domains Protein: ENSMUSP00000138733
Gene: ENSMUSG00000078350

DomainStartEndE-ValueType
low complexity region 22 33 N/A INTRINSIC
transmembrane domain 53 75 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000145527
SMART Domains Protein: ENSMUSP00000138448
Gene: ENSMUSG00000078350

DomainStartEndE-ValueType
low complexity region 22 33 N/A INTRINSIC
transmembrane domain 53 75 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000146054
SMART Domains Protein: ENSMUSP00000138605
Gene: ENSMUSG00000078350

DomainStartEndE-ValueType
low complexity region 22 33 N/A INTRINSIC
transmembrane domain 53 75 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000146426
Predicted Effect probably null
Transcript: ENSMUST00000146543
SMART Domains Protein: ENSMUSP00000138267
Gene: ENSMUSG00000078350

DomainStartEndE-ValueType
low complexity region 22 33 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000163672
Predicted Effect probably benign
Transcript: ENSMUST00000167947
SMART Domains Protein: ENSMUSP00000131382
Gene: ENSMUSG00000029028

DomainStartEndE-ValueType
Pfam:B3_4 1 54 1.1e-9 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000169622
AA Change: L460P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000133124
Gene: ENSMUSG00000029028
AA Change: L460P

DomainStartEndE-ValueType
low complexity region 22 29 N/A INTRINSIC
low complexity region 32 58 N/A INTRINSIC
low complexity region 65 76 N/A INTRINSIC
LRR_TYP 122 145 2.61e-4 SMART
LRR_TYP 152 175 2.12e-4 SMART
LRR 177 199 3.75e0 SMART
LRR 202 224 9.77e1 SMART
LRR_TYP 225 248 2.27e-4 SMART
low complexity region 283 294 N/A INTRINSIC
low complexity region 299 314 N/A INTRINSIC
B3_4 353 529 8.94e-8 SMART
Predicted Effect probably null
Transcript: ENSMUST00000182151
SMART Domains Protein: ENSMUSP00000138692
Gene: ENSMUSG00000078350

DomainStartEndE-ValueType
low complexity region 22 33 N/A INTRINSIC
transmembrane domain 53 75 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000182191
SMART Domains Protein: ENSMUSP00000138710
Gene: ENSMUSG00000078350

DomainStartEndE-ValueType
low complexity region 22 33 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdh A T 5: 76,896,368 probably benign Het
Acadsb A G 7: 131,424,628 T67A probably benign Het
Aff2 A G X: 69,864,087 D1225G possibly damaging Het
Atp2a2 T C 5: 122,489,303 D133G probably benign Het
Cacul1 A T 19: 60,563,223 M187K possibly damaging Het
Ccdc129 A T 6: 55,968,277 D661V probably damaging Het
Celf4 A G 18: 25,504,150 Y263H probably damaging Het
Cmbl G T 15: 31,589,684 V187F probably damaging Het
Epha1 T C 6: 42,360,557 N896S probably benign Het
Fbxo27 G A 7: 28,696,776 probably null Het
Galnt16 T C 12: 80,576,563 S166P probably damaging Het
Gm1110 A G 9: 26,920,714 V47A probably benign Het
Gmnn A G 13: 24,760,154 probably benign Het
Gpbp1 T C 13: 111,436,473 I382V probably benign Het
Gpr87 C A 3: 59,179,317 V256L probably damaging Het
Il4ra C A 7: 125,575,790 S390* probably null Het
Lrriq4 A T 3: 30,655,639 L362F probably damaging Het
Lrrtm4 A T 6: 80,021,844 N79Y probably benign Het
Nr1i2 T A 16: 38,253,756 H165L probably damaging Het
Olfr1511 T C 14: 52,390,170 E201G probably damaging Het
Phf11a T A 14: 59,279,368 T214S possibly damaging Het
Prr14l A T 5: 32,830,543 I536K possibly damaging Het
Rpn1 T A 6: 88,102,105 I510N probably benign Het
Sall4 A T 2: 168,755,885 L20Q probably null Het
Sema3f T C 9: 107,682,511 E759G probably benign Het
Slc5a1 T C 5: 33,154,601 S446P probably benign Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Tcn2 C A 11: 3,926,158 S90I possibly damaging Het
Ttn T C 2: 76,711,987 T31806A possibly damaging Het
Ubr1 T C 2: 120,870,979 probably benign Het
Vac14 T G 8: 110,635,118 L214R probably damaging Het
Vmn2r58 T C 7: 41,837,129 K781E probably damaging Het
Vmn2r92 T C 17: 18,167,241 probably benign Het
Zfp518a G A 19: 40,914,617 G997R probably damaging Het
Zfp609 G A 9: 65,702,790 P964S probably damaging Het
Other mutations in Lrrc47
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02502:Lrrc47 APN 4 154016014 missense probably benign 0.01
IGL03001:Lrrc47 APN 4 154015993 missense probably damaging 0.99
R0372:Lrrc47 UTSW 4 154019632 missense probably benign 0.00
R0433:Lrrc47 UTSW 4 154018365 unclassified probably benign
R0720:Lrrc47 UTSW 4 154019887 intron probably null
R1163:Lrrc47 UTSW 4 154011817 start codon destroyed probably null
R2078:Lrrc47 UTSW 4 154019431 missense probably damaging 1.00
R2103:Lrrc47 UTSW 4 154015893 missense probably damaging 1.00
R5105:Lrrc47 UTSW 4 154012216 missense probably damaging 1.00
R5109:Lrrc47 UTSW 4 154017476 missense probably damaging 0.99
R5687:Lrrc47 UTSW 4 154015683 missense probably benign 0.10
R5885:Lrrc47 UTSW 4 154015972 missense possibly damaging 0.75
R6198:Lrrc47 UTSW 4 154015672 missense probably damaging 1.00
R6384:Lrrc47 UTSW 4 154015860 missense probably benign 0.00
R7040:Lrrc47 UTSW 4 154020452 makesense probably null
R7680:Lrrc47 UTSW 4 154016101 missense probably benign 0.00
Posted On2015-04-16