Incidental Mutation 'IGL01120:2210010C04Rik'
ID51345
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 2210010C04Rik
Ensembl Gene ENSMUSG00000029882
Gene NameRIKEN cDNA 2210010C04 gene
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.076) question?
Stock #IGL01120
Quality Score
Status
Chromosome6
Chromosomal Location41030268-41035509 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 41031673 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Asparagine at position 236 (Y236N)
Ref Sequence ENSEMBL: ENSMUSP00000031931 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031931]
Predicted Effect probably damaging
Transcript: ENSMUST00000031931
AA Change: Y236N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000031931
Gene: ENSMUSG00000029882
AA Change: Y236N

DomainStartEndE-ValueType
Tryp_SPc 24 240 3.52e-102 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5830411N06Rik T C 7: 140,296,559 L648P probably benign Het
Abhd11 T A 5: 135,011,475 probably null Het
Armcx5 T C X: 135,746,363 I396T probably damaging Het
Atm T C 9: 53,461,122 probably null Het
Atp6v1c2 C T 12: 17,308,293 E88K probably damaging Het
Caskin1 A G 17: 24,505,369 T1044A possibly damaging Het
Ccdc155 G T 7: 45,184,198 S560Y probably damaging Het
Cyp3a59 T A 5: 146,102,861 S315T probably damaging Het
Dnaja1 T A 4: 40,730,248 I240N probably damaging Het
Dnttip2 C T 3: 122,278,737 probably benign Het
Elavl2 A T 4: 91,264,072 M136K probably damaging Het
Eml5 C T 12: 98,844,019 V893I probably benign Het
Fbxw4 G T 19: 45,640,516 A2E probably benign Het
Flg2 T G 3: 93,201,168 S168A probably damaging Het
Fndc3a G A 14: 72,556,662 T857I probably benign Het
Gria1 A G 11: 57,317,669 K797E probably damaging Het
Herc1 T C 9: 66,428,880 F1569S probably benign Het
Lrrc45 T C 11: 120,720,010 V524A probably benign Het
Myo19 T C 11: 84,907,278 L708P probably damaging Het
Nup107 A G 10: 117,770,241 probably benign Het
Olfr479 T G 7: 108,055,567 M195R probably damaging Het
Olfr651 T C 7: 104,553,345 V142A probably benign Het
Palm A G 10: 79,816,787 probably benign Het
Phf14 T C 6: 11,962,740 V462A probably damaging Het
Pkhd1l1 G A 15: 44,505,312 probably null Het
Pkp3 T A 7: 141,084,182 L424* probably null Het
Prss29 A G 17: 25,322,133 K184E probably benign Het
Ptcd1 C T 5: 145,152,243 probably benign Het
Pth1r T C 9: 110,727,130 H225R probably damaging Het
Rffl C T 11: 82,806,022 V332I probably damaging Het
Rsl1 T C 13: 67,177,166 probably benign Het
Scn9a T C 2: 66,526,972 K986R probably benign Het
Slc22a15 A G 3: 101,897,166 L181P probably damaging Het
Slc34a1 T A 13: 55,409,071 L241H probably damaging Het
Slc4a4 C A 5: 89,132,379 H354Q probably damaging Het
Sorcs2 T C 5: 36,021,252 E1131G probably damaging Het
Ssc4d C A 5: 135,967,963 D95Y probably damaging Het
Tcte1 A T 17: 45,539,668 D290V probably damaging Het
Thyn1 T A 9: 27,003,774 M74K probably benign Het
Tlr4 C T 4: 66,840,425 T485I probably benign Het
Trem1 A G 17: 48,237,249 T101A probably benign Het
Ttc17 T C 2: 94,371,796 E387G probably damaging Het
Vmn2r103 A T 17: 19,792,997 T127S probably benign Het
Other mutations in 2210010C04Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01625:2210010C04Rik APN 6 41032948 missense probably benign 0.01
IGL02159:2210010C04Rik APN 6 41032957 missense probably benign 0.34
IGL03161:2210010C04Rik APN 6 41034306 missense probably damaging 0.96
R0419:2210010C04Rik UTSW 6 41034347 missense probably benign 0.05
R1715:2210010C04Rik UTSW 6 41032936 splice site probably null
R2057:2210010C04Rik UTSW 6 41032381 missense probably benign 0.06
R2059:2210010C04Rik UTSW 6 41032381 missense probably benign 0.06
R2136:2210010C04Rik UTSW 6 41035462 missense probably benign 0.28
R2446:2210010C04Rik UTSW 6 41031648 missense probably benign 0.15
R4862:2210010C04Rik UTSW 6 41032411 missense possibly damaging 0.74
R5068:2210010C04Rik UTSW 6 41032436 missense probably benign 0.35
R5369:2210010C04Rik UTSW 6 41033006 missense probably benign 0.00
R6392:2210010C04Rik UTSW 6 41032372 missense probably damaging 1.00
Posted On2013-06-21