Incidental Mutation 'IGL02572:C330011M18Rik'
ID299048
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol C330011M18Rik
Ensembl Gene ENSMUSG00000056753
Gene NameRIKEN cDNA C330011M18 gene
Synonyms
Accession Numbers
Is this an essential gene? Not available question?
Stock #IGL02572
Quality Score
Status
Chromosome8
Chromosomal Location84065204-84066738 bp(-) (GRCm38)
Type of Mutationunclassified
DNA Base Change (assembly) A to G at 84066579 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000147677 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005600] [ENSMUST00000098592] [ENSMUST00000211046]
Predicted Effect probably benign
Transcript: ENSMUST00000005600
SMART Domains Protein: ENSMUSP00000005600
Gene: ENSMUSG00000031706

DomainStartEndE-ValueType
low complexity region 11 47 N/A INTRINSIC
low complexity region 53 67 N/A INTRINSIC
low complexity region 73 92 N/A INTRINSIC
Pfam:RFX1_trans_act 106 176 9.6e-9 PFAM
Pfam:RFX1_trans_act 211 366 1.8e-59 PFAM
Pfam:RFX_DNA_binding 420 498 2.5e-35 PFAM
Blast:HisKA 705 768 3e-28 BLAST
low complexity region 908 920 N/A INTRINSIC
low complexity region 932 948 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000071067
SMART Domains Protein: ENSMUSP00000065182
Gene: ENSMUSG00000056753

DomainStartEndE-ValueType
low complexity region 14 25 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000098592
SMART Domains Protein: ENSMUSP00000096191
Gene: ENSMUSG00000074215

DomainStartEndE-ValueType
low complexity region 2 13 N/A INTRINSIC
low complexity region 88 99 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209362
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210660
Predicted Effect probably benign
Transcript: ENSMUST00000211046
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A630001G21Rik T C 1: 85,725,171 N92S probably damaging Het
Abca2 T C 2: 25,433,317 L99P possibly damaging Het
Adam19 T A 11: 46,131,721 Y500* probably null Het
Amy1 A T 3: 113,565,073 probably benign Het
Aox3 T C 1: 58,158,367 I624T probably damaging Het
Atad3a C T 4: 155,753,584 D244N possibly damaging Het
Atp5j2 C A 5: 145,187,237 Het
Bbof1 G A 12: 84,428,365 D443N probably damaging Het
BC017158 A T 7: 128,290,580 probably benign Het
Bod1l G A 5: 41,821,230 Q914* probably null Het
Cgref1 A G 5: 30,933,567 V301A probably benign Het
Coa6 T C 8: 126,422,741 Y19H probably damaging Het
Cop1 T A 1: 159,308,878 Het
Dmrta1 T C 4: 89,691,558 S252P probably benign Het
Dnaaf5 T G 5: 139,184,629 S484A probably benign Het
Dspp A T 5: 104,177,069 S433C probably damaging Het
Efcab5 G A 11: 77,137,888 R206* probably null Het
Epop A T 11: 97,628,201 S361T probably benign Het
Fat3 T A 9: 15,960,506 T3530S probably benign Het
Flvcr1 A G 1: 191,025,646 Y108H probably damaging Het
Fsip2 T G 2: 82,992,003 S6027A probably benign Het
Galnt14 A G 17: 73,535,267 L209P probably damaging Het
Hif3a C A 7: 17,050,588 R25L probably null Het
Hsf5 A G 11: 87,631,695 probably benign Het
Il22ra2 A T 10: 19,626,744 T104S probably benign Het
Klrk1 A G 6: 129,615,353 S138P probably damaging Het
Lrp5 G T 19: 3,614,283 Q815K probably benign Het
Morn4 A G 19: 42,076,447 probably benign Het
Nlrp14 T A 7: 107,182,722 Y375* probably null Het
Nsd1 T A 13: 55,296,130 M1714K probably damaging Het
Olfr171 T A 16: 19,625,098 M1L probably benign Het
Olfr259 G A 2: 87,108,366 T7I possibly damaging Het
Olfr806 T A 10: 129,738,866 D17V possibly damaging Het
Pappa2 C T 1: 158,851,216 A877T probably benign Het
Pcsk2 G A 2: 143,690,342 A137T probably damaging Het
Piezo1 A G 8: 122,485,305 V2054A probably benign Het
Rad52 A G 6: 119,915,227 Het
Rnf123 G A 9: 108,068,302 R390* probably null Het
Sbno1 A G 5: 124,381,677 Het
Scrn1 C T 6: 54,512,201 D312N probably benign Het
Sin3b A G 8: 72,744,481 Q352R probably benign Het
Slc25a28 A G 19: 43,664,446 Y259H probably damaging Het
Sppl2a T C 2: 126,926,296 M151V probably benign Het
Srrm1 G A 4: 135,325,104 Het
Stra8 G A 6: 34,939,159 D280N probably damaging Het
Thbs2 A T 17: 14,677,013 D744E possibly damaging Het
Tiparp A G 3: 65,531,889 T27A probably benign Het
Tmem38a T C 8: 72,579,974 F99S probably damaging Het
Tmod3 T C 9: 75,509,385 T222A probably benign Het
Tnn A G 1: 160,086,107 I1272T probably damaging Het
Tnpo1 A T 13: 98,849,159 I829N probably damaging Het
Trpm5 A T 7: 143,087,876 probably benign Het
Ttn A G 2: 76,767,871 V19566A probably damaging Het
V1ra8 A G 6: 90,203,058 D81G probably damaging Het
Zdhhc20 A G 14: 57,890,107 V25A probably benign Het
Posted On2015-04-16