Incidental Mutation 'IGL01973:2410004P03Rik'
ID182607
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 2410004P03Rik
Ensembl Gene ENSMUSG00000071398
Gene NameRIKEN cDNA 2410004P03 gene
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.047) question?
Stock #IGL01973
Quality Score
Status
Chromosome12
Chromosomal Location17003319-17011727 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 17011171 bp
ZygosityHeterozygous
Amino Acid Change Tryptophan to Arginine at position 59 (W59R)
Ref Sequence ENSEMBL: ENSMUSP00000140028 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095823] [ENSMUST00000189479] [ENSMUST00000190691]
Predicted Effect probably damaging
Transcript: ENSMUST00000095823
AA Change: W59R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000189479
AA Change: W59R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000140028
Gene: ENSMUSG00000071398
AA Change: W59R

DomainStartEndE-ValueType
Pfam:LLC1 52 99 6.6e-6 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000190691
AA Change: W59R

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam17 C T 12: 21,349,943 R154K probably damaging Het
Atp9b A T 18: 80,758,303 F791I probably benign Het
Atr T G 9: 95,871,674 S776R probably damaging Het
AW554918 A T 18: 25,419,999 T487S probably damaging Het
Bckdhb T A 9: 83,991,736 F217Y probably benign Het
Cacna1i G A 15: 80,382,033 A1574T probably damaging Het
Ccdc150 G A 1: 54,300,488 probably null Het
Clca4c-ps A T 3: 144,879,832 noncoding transcript Het
Clec4a1 T C 6: 122,930,721 S123P probably damaging Het
Col6a4 T C 9: 106,062,894 Y1279C probably damaging Het
Cox8c T A 12: 102,899,367 M1K probably null Het
Crat G T 2: 30,405,481 S370Y probably damaging Het
Cts7 A T 13: 61,355,600 D183E probably benign Het
Cyp1a2 C A 9: 57,682,395 W45C probably damaging Het
Eml5 T A 12: 98,863,280 I492L probably benign Het
Fbxl4 T G 4: 22,422,766 L456R probably damaging Het
Flt1 G T 5: 147,683,889 H148Q probably benign Het
Galnt3 T C 2: 66,084,262 M604V probably benign Het
Gatb T C 3: 85,611,424 V279A probably damaging Het
Gm6904 A G 14: 59,251,129 V73A probably benign Het
Gm996 G T 2: 25,579,572 S109* probably null Het
Heatr1 C A 13: 12,429,799 H1543Q probably benign Het
Ighg2b C T 12: 113,307,685 V83I unknown Het
Jcad A G 18: 4,675,514 Q1092R probably benign Het
Kirrel3 A G 9: 35,016,468 E6G probably damaging Het
Klhl22 A G 16: 17,792,711 S609G probably benign Het
Kntc1 A G 5: 123,765,958 Y346C probably damaging Het
Maneal T C 4: 124,859,155 D233G probably benign Het
Mcm3ap T C 10: 76,471,117 S355P probably benign Het
Mettl11b A G 1: 163,717,120 I98T probably benign Het
Mtus2 C T 5: 148,303,476 probably benign Het
Muc4 A G 16: 32,754,265 T1380A probably benign Het
Nedd4 T A 9: 72,736,934 M661K possibly damaging Het
Nomo1 T C 7: 46,083,227 probably benign Het
Ntsr2 T A 12: 16,656,774 W268R probably benign Het
Nup188 A C 2: 30,339,850 Q1360P possibly damaging Het
Olfr15 A T 16: 3,839,777 Q268L probably damaging Het
Olfr231 A G 1: 174,117,533 F161S probably damaging Het
Pabpc1 A T 15: 36,599,275 V392E probably benign Het
Pcdhb11 C A 18: 37,423,512 R632S probably damaging Het
Pnpla6 T A 8: 3,517,619 M87K probably damaging Het
Prkd1 C T 12: 50,366,379 G670R probably damaging Het
Raf1 G A 6: 115,676,569 probably benign Het
Rapgef2 T A 3: 79,091,809 probably null Het
Rnf215 A T 11: 4,136,615 H164L probably damaging Het
Slc24a3 T C 2: 145,245,027 V19A probably benign Het
Tbc1d16 A T 11: 119,156,707 V396E probably benign Het
Tecpr1 T C 5: 144,197,988 probably benign Het
Thap12 T A 7: 98,716,499 Y625N possibly damaging Het
Tshz2 A T 2: 169,884,683 M400L probably damaging Het
Ttc28 A G 5: 111,224,235 Y850C possibly damaging Het
Ugt1a7c A G 1: 88,095,134 D5G probably benign Het
Vmn2r10 C T 5: 108,995,677 M802I probably damaging Het
Washc4 T C 10: 83,556,109 Y220H probably damaging Het
Zfhx3 T A 8: 108,947,193 M1625K probably damaging Het
Zfp677 T A 17: 21,396,907 N75K probably damaging Het
Zzz3 T C 3: 152,428,370 V355A probably benign Het
Other mutations in 2410004P03Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0079:2410004P03Rik UTSW 12 17007182 missense possibly damaging 0.93
R4685:2410004P03Rik UTSW 12 17007184 missense probably damaging 1.00
R6140:2410004P03Rik UTSW 12 17005922 unclassified probably benign
R6184:2410004P03Rik UTSW 12 17007178 missense probably benign 0.35
R6914:2410004P03Rik UTSW 12 17011297 nonsense probably null
X0021:2410004P03Rik UTSW 12 17011344 start codon destroyed probably null 0.92
Posted On2014-05-07