Incidental Mutation 'IGL02016:1810024B03Rik'
List |< first << previous [record 54 of 18487] next >> last >|
ID183764
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 1810024B03Rik
Ensembl Gene ENSMUSG00000044145
Gene NameRIKEN cDNA 1810024B03 gene
Synonyms
Accession Numbers
Is this an essential gene? Not available question?
Stock #IGL02016
Quality Score
Status
Chromosome2
Chromosomal Location127186355-127208280 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 127186955 bp
ZygosityHeterozygous
Amino Acid Change Glycine to Valine at position 108 (G108V)
Ref Sequence ENSEMBL: ENSMUSP00000061355 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056146]
Predicted Effect probably damaging
Transcript: ENSMUST00000056146
AA Change: G108V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000061355
Gene: ENSMUSG00000044145
AA Change: G108V

DomainStartEndE-ValueType
Pfam:Pkinase_Tyr 1 140 1.5e-30 PFAM
Pfam:Pkinase 1 189 2.1e-46 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931406P16Rik A G 7: 34,239,101 M791T possibly damaging Het
A2ml1 T C 6: 128,558,335 E804G probably damaging Het
Abcg4 G A 9: 44,287,350 T35M probably damaging Het
Acad9 A T 3: 36,088,486 probably null Het
Adgrv1 T C 13: 81,397,453 D5571G probably damaging Het
App T A 16: 85,056,521 D223V unknown Het
Arhgap30 A G 1: 171,407,747 E563G probably damaging Het
Atp6v1e2 A T 17: 86,944,394 V192D probably damaging Het
Atr G A 9: 95,927,175 V1969I probably benign Het
Bean1 T C 8: 104,210,918 L43S possibly damaging Het
Cand1 A G 10: 119,212,568 V436A probably damaging Het
Card6 T C 15: 5,108,256 I39V probably damaging Het
Ccdc73 A G 2: 104,975,616 T300A probably benign Het
Ccdc88c T C 12: 100,941,207 T962A possibly damaging Het
Chd6 G T 2: 160,983,678 L1169I probably damaging Het
Chrna7 A T 7: 63,103,835 V312E probably damaging Het
Dna2 A G 10: 62,960,412 N540S probably benign Het
Elavl2 T C 4: 91,260,935 E209G probably damaging Het
Elmo2 A G 2: 165,295,012 probably null Het
Fto A T 8: 91,666,406 R494* probably null Het
Gm13088 T A 4: 143,655,319 E269V possibly damaging Het
Gm9966 A T 7: 95,958,807 T112S unknown Het
Gtf3c1 A C 7: 125,668,039 I940S probably damaging Het
Hecw2 C A 1: 53,831,543 Q1426H possibly damaging Het
Iars2 A C 1: 185,303,306 L579R probably damaging Het
Ifih1 A C 2: 62,606,984 M537R probably benign Het
Kcnmb4 A G 10: 116,446,462 probably benign Het
Large2 A G 2: 92,369,543 V175A possibly damaging Het
Mad2l1bp A G 17: 46,153,502 probably benign Het
Muc20 A T 16: 32,797,352 F14Y possibly damaging Het
Myom2 A G 8: 15,125,195 E1258G probably benign Het
Olfr1066 A T 2: 86,455,497 M258K probably damaging Het
Parp1 A T 1: 180,598,951 probably null Het
Prkra A T 2: 76,643,309 probably null Het
Ror2 C T 13: 53,110,728 S764N probably damaging Het
Scd1 C T 19: 44,400,307 G235S probably benign Het
Sdk1 A G 5: 142,034,429 H654R possibly damaging Het
Sesn3 A G 9: 14,320,337 Y188C probably damaging Het
Slc26a4 T C 12: 31,535,667 M461V probably damaging Het
Slc28a2 A G 2: 122,455,341 I439V probably benign Het
Smc5 T A 19: 23,273,712 N36I probably benign Het
Smurf2 A G 11: 106,822,678 F745S probably damaging Het
Spata22 A G 11: 73,336,031 N65S possibly damaging Het
Tanc1 A G 2: 59,843,590 T1680A probably benign Het
Tnxb G A 17: 34,672,275 V531M probably damaging Het
Trpm3 T G 19: 22,902,069 Y727* probably null Het
Tssk1 A T 16: 17,894,894 Y181F probably damaging Het
Ucp3 T A 7: 100,480,559 V136E probably damaging Het
Uqcrfs1 A C 13: 30,545,114 V45G probably benign Het
Uvrag A G 7: 99,099,442 I101T probably benign Het
Vmn1r206 A T 13: 22,620,164 L291Q probably damaging Het
Wnk2 T A 13: 49,056,905 I1813F probably damaging Het
Zbtb3 T A 19: 8,803,215 V64E probably damaging Het
Zeb2 A G 2: 44,988,874 I1115T possibly damaging Het
Zfp280b C T 10: 76,039,111 L275F possibly damaging Het
Other mutations in 1810024B03Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02124:1810024B03Rik APN 2 127186734 missense possibly damaging 0.82
R0417:1810024B03Rik UTSW 2 127186944 missense probably damaging 1.00
R0554:1810024B03Rik UTSW 2 127187276 start codon destroyed probably null 1.00
R4603:1810024B03Rik UTSW 2 127187099 missense probably damaging 1.00
R5396:1810024B03Rik UTSW 2 127186953 missense probably damaging 1.00
R5875:1810024B03Rik UTSW 2 127186817 missense possibly damaging 0.51
X0027:1810024B03Rik UTSW 2 127186772 missense probably benign 0.01
Posted On2014-05-07