Incidental Mutation 'IGL01769:2310057M21Rik'
ID153816
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 2310057M21Rik
Ensembl Gene ENSMUSG00000040177
Gene NameRIKEN cDNA 2310057M21 gene
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.072) question?
Stock #IGL01769
Quality Score
Status
Chromosome7
Chromosomal Location131338220-131362759 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 131357486 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Leucine at position 162 (M162L)
Ref Sequence ENSEMBL: ENSMUSP00000147242 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059438] [ENSMUST00000124096] [ENSMUST00000207305] [ENSMUST00000207354] [ENSMUST00000208526]
Predicted Effect probably benign
Transcript: ENSMUST00000059438
AA Change: M208L

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000050128
Gene: ENSMUSG00000040177
AA Change: M208L

DomainStartEndE-ValueType
Pfam:DUF4506 59 198 1.8e-60 PFAM
low complexity region 320 328 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000124096
SMART Domains Protein: ENSMUSP00000130971
Gene: ENSMUSG00000030849

DomainStartEndE-ValueType
Pfam:Pkinase 1 118 4.8e-19 PFAM
Pfam:Pkinase_Tyr 1 118 1.7e-50 PFAM
low complexity region 146 160 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207117
Predicted Effect probably benign
Transcript: ENSMUST00000207305
Predicted Effect probably benign
Transcript: ENSMUST00000207354
AA Change: M162L

PolyPhen 2 Score 0.131 (Sensitivity: 0.93; Specificity: 0.86)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208509
Predicted Effect probably benign
Transcript: ENSMUST00000208526
AA Change: M208L

PolyPhen 2 Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh1a1 A T 19: 20,642,919 T487S probably benign Het
Bahcc1 T C 11: 120,280,204 probably benign Het
BC030867 T C 11: 102,255,596 C233R probably benign Het
Cldn10 G A 14: 118,873,717 probably benign Het
Cntn3 G A 6: 102,208,184 T657I probably damaging Het
Crb1 A T 1: 139,337,068 I204K probably damaging Het
Crim1 C A 17: 78,313,235 T368K probably benign Het
Csad C A 15: 102,180,081 V237L probably benign Het
Cyp39a1 T G 17: 43,749,915 H451Q possibly damaging Het
Dclk2 T C 3: 86,816,360 E376G possibly damaging Het
Dnah10 A T 5: 124,764,944 Y1331F possibly damaging Het
Dnajc11 A T 4: 151,979,302 I452L probably damaging Het
Dpf2 T C 19: 5,912,782 probably benign Het
Elovl2 A C 13: 41,186,944 V225G probably damaging Het
Fancd2 T A 6: 113,545,111 H222Q possibly damaging Het
Fhdc1 G A 3: 84,444,735 A1061V possibly damaging Het
Flt4 C T 11: 49,635,171 probably benign Het
Foxp2 T C 6: 15,409,835 V478A possibly damaging Het
H2-Q1 G A 17: 35,323,529 V317M probably benign Het
Igkv3-5 G A 6: 70,663,352 probably benign Het
Isg20 G A 7: 78,914,381 C12Y probably damaging Het
Itgb4 G A 11: 115,988,926 V635I probably damaging Het
Nat8f5 G A 6: 85,817,877 R34C probably benign Het
Olfr924 T C 9: 38,848,333 V73A probably benign Het
Pramel7 A G 2: 87,489,588 S454P probably benign Het
Rarb T A 14: 16,443,760 E176V probably damaging Het
Sema4a T A 3: 88,449,756 I303F possibly damaging Het
Slc25a24 G A 3: 109,149,500 E110K probably damaging Het
Slc7a13 A T 4: 19,839,527 I377L probably benign Het
Smim19 T C 8: 22,463,377 probably null Het
Tiam2 A G 17: 3,427,290 Y596C probably damaging Het
Tlr1 A T 5: 64,925,947 L429* probably null Het
Ubxn8 G A 8: 33,629,378 probably benign Het
Vmn2r108 C A 17: 20,471,018 M414I probably benign Het
Vmn2r99 A G 17: 19,380,115 N467S probably damaging Het
Zfp456 T A 13: 67,367,153 T145S probably benign Het
Other mutations in 2310057M21Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0600:2310057M21Rik UTSW 7 131357660 missense probably damaging 1.00
R0838:2310057M21Rik UTSW 7 131361806 missense probably damaging 0.97
R1703:2310057M21Rik UTSW 7 131343702 nonsense probably null
R2073:2310057M21Rik UTSW 7 131357513 missense probably benign 0.00
R2206:2310057M21Rik UTSW 7 131362602 missense probably benign 0.02
R4575:2310057M21Rik UTSW 7 131362596 missense probably benign 0.13
R4620:2310057M21Rik UTSW 7 131343606 nonsense probably null
R4704:2310057M21Rik UTSW 7 131357530 missense probably damaging 0.99
R4947:2310057M21Rik UTSW 7 131357614 missense probably damaging 1.00
R5512:2310057M21Rik UTSW 7 131350660 missense possibly damaging 0.90
R6137:2310057M21Rik UTSW 7 131357613 missense probably damaging 1.00
R7227:2310057M21Rik UTSW 7 131350720 missense probably damaging 1.00
R7748:2310057M21Rik UTSW 7 131361792 missense probably benign 0.04
X0062:2310057M21Rik UTSW 7 131350682 missense possibly damaging 0.69
Posted On2014-02-04