Incidental Mutation 'IGL00820:1110017D15Rik'
List |< first << previous [record 21 of 55675] next >> last >|
ID8409
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 1110017D15Rik
Ensembl Gene ENSMUSG00000028441
Gene NameRIKEN cDNA 1110017D15 gene
SynonymsSmrp1, Cbe1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.069) question?
Stock #IGL00820
Quality Score
Status
Chromosome4
Chromosomal Location41505009-41517333 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 41507178 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Glutamine at position 206 (L206Q)
Ref Sequence ENSEMBL: ENSMUSP00000030152 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030152] [ENSMUST00000054920] [ENSMUST00000095126] [ENSMUST00000149596]
Predicted Effect probably damaging
Transcript: ENSMUST00000030152
AA Change: L206Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000030152
Gene: ENSMUSG00000028441
AA Change: L206Q

DomainStartEndE-ValueType
Pfam:SMRP1 1 260 3.3e-157 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000054920
SMART Domains Protein: ENSMUSP00000059038
Gene: ENSMUSG00000046312

DomainStartEndE-ValueType
transmembrane domain 56 78 N/A INTRINSIC
Pfam:Glyco_hydro_31 311 712 9.7e-55 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000095126
SMART Domains Protein: ENSMUSP00000092744
Gene: ENSMUSG00000028441

DomainStartEndE-ValueType
Pfam:SMRP1 1 202 6.5e-102 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123356
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123865
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124019
Predicted Effect unknown
Transcript: ENSMUST00000125303
AA Change: L124Q
SMART Domains Protein: ENSMUSP00000122537
Gene: ENSMUSG00000028441
AA Change: L124Q

DomainStartEndE-ValueType
Pfam:SMRP1 1 176 5.2e-87 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134546
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138217
Predicted Effect probably benign
Transcript: ENSMUST00000149596
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a nuclear- or perinuclear-localized protein with no predicted domains or similarity to other known proteins. Expression of this gene is induced during the differentiation of bronchial epithelial cells, and the encoded protein may play a role in ciliogenesis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]
Allele List at MGI
Other mutations in this stock
Total: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg3 T A 5: 104,936,012 I631F probably benign Het
Baiap3 T C 17: 25,248,690 D314G probably benign Het
Ccl1 T C 11: 82,178,088 E41G possibly damaging Het
Ephx1 T C 1: 180,999,821 Y89C possibly damaging Het
Fbxw18 G A 9: 109,693,369 T144I probably damaging Het
Galt C T 4: 41,758,570 A357V probably benign Het
Gfra1 T C 19: 58,263,905 probably benign Het
Hivep1 A T 13: 42,183,818 I2458L probably benign Het
Itga8 A G 2: 12,232,892 V339A possibly damaging Het
Klk1b8 T C 7: 43,954,786 I226T probably benign Het
Mfsd6 C T 1: 52,708,306 V467M probably damaging Het
Mrpl16 T C 19: 11,774,413 V179A probably benign Het
Olfr603 G A 7: 103,383,465 T179I probably damaging Het
Pnpla6 A G 8: 3,532,358 T693A possibly damaging Het
Ptpn2 A C 18: 67,675,792 I318R possibly damaging Het
Slc17a2 A G 13: 23,819,334 H285R probably benign Het
Slit2 G A 5: 47,989,151 E95K possibly damaging Het
Sptb A G 12: 76,632,477 L68P probably damaging Het
Stxbp6 G A 12: 44,861,346 T163I probably damaging Het
Tex15 A G 8: 33,579,006 probably benign Het
Tti1 T C 2: 158,008,968 E117G probably damaging Het
Ube4b T C 4: 149,352,921 probably benign Het
Wipi1 A C 11: 109,583,119 probably benign Het
Zan A T 5: 137,386,364 C5133S unknown Het
Other mutations in 1110017D15Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01062:1110017D15Rik APN 4 41511433 missense probably damaging 1.00
IGL02645:1110017D15Rik APN 4 41517080 missense probably damaging 1.00
IGL03124:1110017D15Rik APN 4 41507287 missense possibly damaging 0.87
R0284:1110017D15Rik UTSW 4 41507538 missense probably damaging 1.00
R1760:1110017D15Rik UTSW 4 41507330 critical splice acceptor site probably null
R1761:1110017D15Rik UTSW 4 41507223 missense probably damaging 1.00
R2073:1110017D15Rik UTSW 4 41507519 critical splice donor site probably null
R2180:1110017D15Rik UTSW 4 41507170 missense probably benign 0.00
R4414:1110017D15Rik UTSW 4 41505574 missense possibly damaging 0.71
R4415:1110017D15Rik UTSW 4 41505574 missense possibly damaging 0.71
R4416:1110017D15Rik UTSW 4 41505574 missense possibly damaging 0.71
R4417:1110017D15Rik UTSW 4 41505574 missense possibly damaging 0.71
R4516:1110017D15Rik UTSW 4 41517200 unclassified probably benign
R5132:1110017D15Rik UTSW 4 41517178 unclassified probably benign
R6132:1110017D15Rik UTSW 4 41517160 start codon destroyed probably null 0.98
R6413:1110017D15Rik UTSW 4 41505135 missense possibly damaging 0.86
Posted On2012-12-06