Incidental Mutation 'IGL02572:A630001G21Rik'
ID299063
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol A630001G21Rik
Ensembl Gene ENSMUSG00000052760
Gene NameRIKEN cDNA A630001G21 gene
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.071) question?
Stock #IGL02572
Quality Score
Status
Chromosome1
Chromosomal Location85717083-85778643 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 85725171 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Serine at position 92 (N92S)
Ref Sequence ENSEMBL: ENSMUSP00000124137 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064788] [ENSMUST00000159122] [ENSMUST00000162038]
Predicted Effect probably damaging
Transcript: ENSMUST00000064788
AA Change: N92S

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000070374
Gene: ENSMUSG00000052760
AA Change: N92S

DomainStartEndE-ValueType
Pfam:Sp100 11 109 3.1e-40 PFAM
low complexity region 168 187 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000159122
AA Change: N92S

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000124137
Gene: ENSMUSG00000052760
AA Change: N92S

DomainStartEndE-ValueType
Pfam:Sp100 9 112 8.3e-45 PFAM
low complexity region 168 187 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159320
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159325
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161453
Predicted Effect possibly damaging
Transcript: ENSMUST00000162038
AA Change: N92S

PolyPhen 2 Score 0.879 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000125643
Gene: ENSMUSG00000052760
AA Change: N92S

DomainStartEndE-ValueType
Pfam:Sp100 11 109 4e-41 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
C330011M18Rik A G 8: 84,066,579 probably benign 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
Other mutations in A630001G21Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
FR4737:A630001G21Rik UTSW 1 85723135 utr 3 prime probably benign
R0423:A630001G21Rik UTSW 1 85726466 missense probably benign 0.03
R3029:A630001G21Rik UTSW 1 85718245 missense probably benign 0.33
R4417:A630001G21Rik UTSW 1 85726463 missense probably damaging 0.98
R4876:A630001G21Rik UTSW 1 85719040 missense probably damaging 0.98
R5592:A630001G21Rik UTSW 1 85726611 missense probably damaging 0.96
R5719:A630001G21Rik UTSW 1 85723385 missense probably benign 0.01
R5780:A630001G21Rik UTSW 1 85718318 missense probably benign 0.02
X0020:A630001G21Rik UTSW 1 85725259 missense probably damaging 1.00
Posted On2015-04-16