Incidental Mutation 'IGL02067:1700028K03Rik'
List |< first << previous [record 72 of 33389] next >> last >|
ID185690
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 1700028K03Rik
Ensembl Gene ENSMUSG00000089798
Gene NameRIKEN cDNA 1700028K03 gene
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.123) question?
Stock #IGL02067
Quality Score
Status
Chromosome5
Chromosomal Location107534709-107551542 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) C to T at 107543950 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Stop codon at position 36 (R36*)
Ref Sequence ENSEMBL: ENSMUSP00000124398 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058921] [ENSMUST00000159902] [ENSMUST00000160160]
Predicted Effect probably null
Transcript: ENSMUST00000058921
AA Change: R36*
SMART Domains Protein: ENSMUSP00000058373
Gene: ENSMUSG00000089798
AA Change: R36*

DomainStartEndE-ValueType
Pfam:DUF4580 12 173 1.4e-81 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000143074
SMART Domains Protein: ENSMUSP00000122032
Gene: ENSMUSG00000106631

DomainStartEndE-ValueType
low complexity region 116 127 N/A INTRINSIC
low complexity region 364 375 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000159902
AA Change: R36*
SMART Domains Protein: ENSMUSP00000124574
Gene: ENSMUSG00000089798
AA Change: R36*

DomainStartEndE-ValueType
Pfam:DUF4580 10 177 1.4e-80 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000160160
AA Change: R36*
SMART Domains Protein: ENSMUSP00000124398
Gene: ENSMUSG00000106631
AA Change: R36*

DomainStartEndE-ValueType
Pfam:DUF4580 10 140 1.5e-61 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162591
Predicted Effect noncoding transcript
Transcript: ENSMUST00000163064
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aplp2 T A 9: 31,150,895 K688N probably damaging Het
Arhgef28 G T 13: 98,077,317 Q13K probably damaging Het
Brd8 C T 18: 34,602,727 S899N probably damaging Het
Chrna6 A G 8: 27,404,396 S494P probably damaging Het
Clcc1 T A 3: 108,668,721 L195H probably damaging Het
Coq3 A G 4: 21,900,397 E208G probably benign Het
Dock4 T G 12: 40,834,385 S1684A probably damaging Het
Duoxa2 G A 2: 122,300,591 V78M possibly damaging Het
Fam189b C T 3: 89,188,596 R545* probably null Het
Fam8a1 G T 13: 46,669,848 R88L possibly damaging Het
Ganc A G 2: 120,406,304 D23G probably benign Het
Gm14305 A T 2: 176,719,317 E53D probably damaging Het
Ing5 T A 1: 93,811,926 L58Q probably damaging Het
Klrb1-ps1 A G 6: 129,129,388 D164G probably damaging Het
Lama2 G A 10: 27,176,796 T1389M probably benign Het
Lrp6 A T 6: 134,480,396 I815K probably damaging Het
Nek10 A G 14: 14,861,639 D565G probably benign Het
Opa1 A G 16: 29,616,655 E641G probably damaging Het
Rbm44 T C 1: 91,152,845 S252P probably damaging Het
Sbf1 A G 15: 89,289,044 V1810A probably damaging Het
Sh3pxd2b T C 11: 32,423,095 V754A probably benign Het
Slc27a6 A G 18: 58,612,191 T566A probably benign Het
Stxbp6 C T 12: 44,861,298 R179Q probably damaging Het
Supt6 T A 11: 78,231,157 Y223F probably benign Het
Tdrd6 T C 17: 43,628,209 I649M probably damaging Het
Tecrl A T 5: 83,284,275 C258S probably benign Het
Zfp128 T C 7: 12,885,050 I74T possibly damaging Het
Other mutations in 1700028K03Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02152:1700028K03Rik APN 5 107548117 missense probably benign 0.05
R0519:1700028K03Rik UTSW 5 107548201 missense probably benign 0.34
R2040:1700028K03Rik UTSW 5 107545741 missense probably benign
R2858:1700028K03Rik UTSW 5 107545801 missense probably benign 0.33
R5618:1700028K03Rik UTSW 5 107548199 nonsense probably null
R6408:1700028K03Rik UTSW 5 107543992 missense probably damaging 1.00
Posted On2014-05-07