Incidental Mutation 'IGL02883:1810055G02Rik'
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ID362874
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 1810055G02Rik
Ensembl Gene ENSMUSG00000035372
Gene NameRIKEN cDNA 1810055G02 gene
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.071) question?
Stock #IGL02883
Quality Score
Status
Chromosome19
Chromosomal Location3708333-3717881 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 3716972 bp
ZygosityHeterozygous
Amino Acid Change Serine to Arginine at position 186 (S186R)
Ref Sequence ENSEMBL: ENSMUSP00000047063 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039048]
Predicted Effect possibly damaging
Transcript: ENSMUST00000039048
AA Change: S186R

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000047063
Gene: ENSMUSG00000035372
AA Change: S186R

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
low complexity region 86 97 N/A INTRINSIC
low complexity region 265 288 N/A INTRINSIC
low complexity region 292 310 N/A INTRINSIC
transmembrane domain 343 365 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acap2 A G 16: 31,096,345 probably benign Het
Cacna1h G T 17: 25,380,532 R1726S probably damaging Het
Cdca2 T C 14: 67,707,497 S133G probably damaging Het
Cep295nl A T 11: 118,333,909 S36R probably benign Het
Crispld1 A G 1: 17,746,789 N190S possibly damaging Het
Crtam A G 9: 40,994,501 V44A probably benign Het
Crtc1 C T 8: 70,406,125 G112S probably benign Het
Cyp17a1 T C 19: 46,669,351 N254S probably benign Het
Dmrta1 T C 4: 89,688,774 S156P probably benign Het
Eno2 A C 6: 124,766,209 V188G probably damaging Het
Fam20a A T 11: 109,675,127 I427N probably damaging Het
Fat2 T C 11: 55,256,618 K3933E probably benign Het
Gm15448 A G 7: 3,822,180 S488P possibly damaging Het
Igkv8-30 T C 6: 70,117,617 M1V probably null Het
Ist1 G A 8: 109,683,668 Het
Kank4 T C 4: 98,773,453 E765G possibly damaging Het
Kat14 T C 2: 144,393,529 L92S probably damaging Het
Kcnu1 G A 8: 25,849,827 V58I probably benign Het
Lrba T A 3: 86,445,413 I1956N probably damaging Het
Lrba T A 3: 86,354,206 V1489E probably damaging Het
Mdn1 G A 4: 32,763,199 V5100I probably benign Het
Mkrn2os C A 6: 115,586,709 G122* probably null Het
Nme3 T C 17: 24,896,906 Y78H probably benign Het
Pkd1l2 G A 8: 117,065,745 T436I probably benign Het
Ppp2r5c T G 12: 110,522,563 V56G possibly damaging Het
Pramef25 T C 4: 143,949,848 T229A possibly damaging Het
Prdm10 G A 9: 31,327,348 V179M probably damaging Het
Rab11fip2 A G 19: 59,906,998 V344A probably damaging Het
Selp G A 1: 164,130,102 A267T probably benign Het
Sf3a1 T A 11: 4,179,192 W718R probably damaging Het
Taar9 T C 10: 24,109,480 N19D probably benign Het
Tas2r113 T G 6: 132,893,419 S137A probably damaging Het
Traf4 A T 11: 78,161,621 I66N possibly damaging Het
Ucp3 A T 7: 100,480,642 T164S probably benign Het
Uggt1 A T 1: 36,177,615 N96K probably benign Het
Uqcc1 T A 2: 155,911,829 Q42L possibly damaging Het
Vmn1r128 A G 7: 21,349,515 K48R probably benign Het
Other mutations in 1810055G02Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01024:1810055G02Rik APN 19 3717040 missense probably benign 0.02
R0909:1810055G02Rik UTSW 19 3715788 missense probably benign 0.00
R1482:1810055G02Rik UTSW 19 3717192 missense probably benign 0.01
R2158:1810055G02Rik UTSW 19 3716608 missense possibly damaging 0.46
R4833:1810055G02Rik UTSW 19 3716872 missense possibly damaging 0.87
R5012:1810055G02Rik UTSW 19 3717217 missense possibly damaging 0.92
R5557:1810055G02Rik UTSW 19 3717501 missense possibly damaging 0.66
X0026:1810055G02Rik UTSW 19 3716826 missense probably damaging 0.96
Posted On2015-12-18